@article{bonfigli_high_2007,

title = {High frequency of the TCRBV20S1 null allele in the Sardinian population.},

author = {Bonfigli, Silvana and Fozza, Claudio and Contini, Salvatore and Buzzetti, Raffaella and Cucca, Francesco and Longinotti, Maurizio},

doi = {10.1016/j.humimm.2007.01.011},

issn = {0198-8859 0198-8859},

year  = {2007},

date = {2007-05-01},

journal = {Hum Immunol},

volume = {68},

number = {5},

pages = {426--429},

abstract = {Single nucleotide polymorphisms (SNPs) in the T-cell receptor (TCR) gene segments might play a role in shaping the TCR repertoire. Three polymorphisms have been described for the TCRBV20S1 gene segment, one of which is responsible for a nucleotide substitution at position 524, resulting in the introduction of a stop codon. Individuals homozygous for this inactivating polymorphism ("null allele") are unable to express TCRBV20 gene products. Using DNA restriction digestion analysis, we investigated the frequency of this polymorphism in 111 healthy Sardinian subjects. Inhabitants of the Mediterranean island of Sardinia are considered to represent a genetically isolated population. Our analyses revealed an incidence of 19.8% of homozygosity for the null allele, corresponding to an allele frequency of 0.45. Such an incidence, significantly higher than the one detected in 83 non-Sardinian Caucasians (6%), is the most elevated so far reported in the literature. BV20 is a single member subfamily and the null allele produces a gap in the potential TCR repertoire. Therefore, it is possible that an undetermined selective pressure could have played a role in determining the high frequency of this inactivating polymorphism in Sardinians. Alternatively, this finding could be related to a founder effect in this ancient island population.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{marrosu_variation_2007,

title = {Variation of the myelin oligodendrocyte glycoprotein gene is not primarily associated with multiple sclerosis in the Sardinian population.},

author = {Marrosu, Maria Giovanna and Murru, Raffaele and Costa, Gianna and Melis, Maria Cristina and Rolesu, Marcella and Schirru, Lucia and Solla, Elisabetta and Cuccu, Stefania and Secci, Maria Antonietta and Whalen, Michael B. and Cocco, Eleonora and Pugliatti, Maura and Sotgiu, Stefano and Rosati, Giulio and Cucca, Francesco},

doi = {10.1186/1471-2156-8-25},

issn = {1471-2156 1471-2156},

year  = {2007},

date = {2007-05-01},

journal = {BMC Genet},

volume = {8},

pages = {25},

abstract = {BACKGROUND: Multiple sclerosis (MS) is consistently associated with particular},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid17476358,

title = {A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome},

author = {V Marrella and P L Poliani and A Casati and F Rucci and L Frascoli and M L Gougeon and B Lemercier and M Bosticardo and M Ravanini and M Battaglia and M G Roncarolo and M Cavazzana-Calvo and F Facchetti and L D Notarangelo and P Vezzoni and F Grassi and A Villa},

year  = {2007},

date = {2007-05-01},

journal = {J Clin Invest},

volume = {117},

number = {5},

pages = {1260--1269},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid17273969,

title = {Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation},

author = {M A Deardorff and M Kaur and D Yaeger and A Rampuria and S Korolev and J Pie and C Gil-Rodríguez and M Arnedo and B Loeys and A D Kline and M Wilson and K Lillquist and V Siu and F J Ramos and A Musio and L S Jackson and D Dorsett and I D Krantz},

year  = {2007},

date = {2007-03-01},

volume = {80},

number = {3},

pages = {485--494},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{jores_hla-dqb1*0201_2007,

title = {HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease.},

author = {Jores, Rita-Desiree and Frau, Fulvia and Cucca, Francesco and Grazia Clemente, Maria and Orru, Sandra and Rais, Marco and De Virgiliis, Stefano and Congia, Mauro},

doi = {10.1080/00365520600789859},

issn = {0036-5521 0036-5521},

year  = {2007},

date = {2007-01-01},

journal = {Scand J Gastroenterol},

volume = {42},

number = {1},

pages = {48--53},

abstract = {OBJECTIVE: Celiac disease (CD) is a T-lymphocyte-mediated small intestinal enteropathy triggered and maintained by dietary gluten, with a strong genetic component mapping to the HLA genes encoding for the class II DQ(alpha1*0501, beta1*02) molecule. Damage of the small intestine may cause a variety of clinical signs ranging from isolated long-standing iron-deficiency anemia refractory to iron supplementation to forms of severe malnutrition that may become life threatening. However, patients carrying the typical intestinal lesions of CD and presenting no symptoms at all (silent CD) are also a common clinical observation. Since it is commonly assumed that clinical signs and symptoms tend to correlate with the severity of the intestinal damage, the purpose of this study was to investigate whether particular HLA class II genotypes might also influence the extent of intestinal damage and consequently the clinical presentation of the disease. MATERIAL AND METHODS: We retrospectively compared histological grading of celiac disease intestinal biopsies with HLA haplotype, age at onset of disease and clinical signs and symptoms. RESULTS: Our findings showed that homozygosis for the DQB1*0201 allele is associated with a higher severity of the histological score (ptextless0.008). Of note for the clinician, this work also suggests that the same type 3c of intestinal damage causes a different clinical syndrome, depending on the patient's age. CONCLUSIONS: The genetic predisposition at the HLA-DQB1 locus influences the severity of the mucosal damage in a dose-dependent manner, but not the clinical presentation, of celiac disease.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{balaci_irak-m_2007,

title = {IRAK-M is involved in the pathogenesis of early-onset persistent asthma.},

author = {Balaci, Lenuta and Spada, Maria Cristina and Olla, Nazario and Sole, Gabriella and Loddo, Laura and Anedda, Francesca and Naitza, Silvia and Zuncheddu, Maria Antonietta and Maschio, Andrea and Altea, Daniele and Uda, Manuela and Pilia, Sabrina and Sanna, Serena and Masala, Marco and Crisponi, Laura and Fattori, Matilde and Devoto, Marcella and Doratiotto, Silvia and Rassu, Stefania and Mereu, Simonetta and Giua, Enrico and Cadeddu, Natalina Graziella and Atzeni, Roberto and Pelosi, Umberto and Corrias, Adriano and Perra, Roberto and Torrazza, Pier Luigi and Pirina, Pietro and Ginesu, Francesco and Marcias, Silvano and Schintu, Maria Grazia and Del Giacco, Gennaro Sergio and Manconi, Paolo Emilio and Malerba, Giovanni and Bisognin, Andrea and Trabetti, Elisabetta and Boner, Attilio and Pescollderungg, Lydia and Pignatti, Pier Franco and Schlessinger, David and Cao, Antonio and Pilia, Giuseppe},

doi = {10.1086/518259},

issn = {0002-9297 0002-9297},

year  = {2007},

date = {2007-01-01},

journal = {Am J Hum Genet},

volume = {80},

number = {6},

pages = {1103--1114},

abstract = {Asthma is a multifactorial disease influenced by genetic and environmental factors. In the past decade, several loci and textgreater100 genes have been found to be associated with the disease in at least one population. Among these loci, region 12q13-24 has been implicated in asthma etiology in multiple populations, suggesting that it harbors one or more asthma susceptibility genes. We performed linkage and association analyses by transmission/disequilibrium test and case-control analysis in the candidate region 12q13-24, using the Sardinian founder population, in which limited heterogeneity of pathogenetic alleles for monogenic and complex disorders as well as of environmental conditions should facilitate the study of multifactorial traits. We analyzed our cohort, using a cutoff age of 13 years at asthma onset, and detected significant linkage to a portion of 12q13-24. We identified IRAK-M as the gene contributing to the linkage and showed that it is associated with early-onset persistent asthma. We defined protective and predisposing SNP haplotypes and replicated associations in an outbred Italian population. Sequence analysis in patients found mutations, including inactivating lesions, in the IRAK-M coding region. Immunohistochemistry of lung biopsies showed that IRAK-M is highly expressed in epithelial cells. We report that IRAK-M is involved in the pathogenesis of early-onset persistent asthma. IRAK-M, a negative regulator of the Toll-like receptor/IL-1R pathways, is a master regulator of NF- kappa B and inflammation. Our data suggest a mechanistic link between hyperactivation of the innate immune system and chronic airway inflammation and indicate IRAK-M as a potential target for therapeutic intervention against asthma.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{crisponi_crisponi_2007,

title = {Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.},

author = {Crisponi, Laura and Crisponi, Giangiorgio and Meloni, Alessandra and Toliat, Mohammad Reza and Nurnberg, Gudrun and Usala, Gianluca and Uda, Manuela and Masala, Marco and Hohne, Wolfgang and Becker, Christian and Marongiu, Mara and Chiappe, Francesca and Kleta, Robert and Rauch, Anita and Wollnik, Bernd and Strasser, Friedrich and Reese, Thomas and Jakobs, Cornelis and Kurlemann, Gerd and Cao, Antonio and Nurnberg, Peter and Rutsch, Frank},

doi = {10.1086/516843},

issn = {0002-9297 0002-9297},

year  = {2007},

date = {2007-01-01},

journal = {Am J Hum Genet},

volume = {80},

number = {5},

pages = {971--981},

abstract = {Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed homozygosity mapping in five Sardinian and three Turkish families with Crisponi syndrome, using high-density single-nucleotide polymorphism arrays, and identified a critical region on chromosome 19p12-13.1. The most prominent candidate gene was CRLF1, recently found to be involved in the pathogenesis of cold-induced sweating syndrome type 1 (CISS1). CISS1 belongs to a group of conditions with overlapping phenotypes, also including cold-induced sweating syndrome type 2 and Stuve-Wiedemann syndrome. All these syndromes are caused by mutations of genes of the ciliary neurotrophic factor (CNTF)-receptor pathway. Here, we describe the identification of four different CRLF1 mutations in eight different Crisponi-affected families, including a missense mutation, a single-nucleotide insertion, and a nonsense and an insertion/deletion (indel) mutation, all segregating with the disease trait in the families. Comparison of the mutation spectra of Crisponi syndrome and CISS1 suggests that neither the type nor the location of the CRLF1 mutations points to a phenotype/genotype correlation that would account for the most severe phenotype in Crisponi syndrome. Other, still-unknown molecular factors may be responsible for the variable phenotypic expression of the CRLF1 mutations. We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid17632511,

title = {Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL},

author = {C Sobacchi and A Frattini and M M Guerrini and M Abinun and A Pangrazio and L Susani and R Bredius and G Mancini and A Cant and N Bishop and P Grabowski and A Del Fattore and C Messina and G Errigo and F P Coxon and D I Scott and A Teti and M J Rogers and P Vezzoni and A Villa and M H Helfrich},

year  = {2007},

date = {2007-01-01},

journal = {Nat Genet},

volume = {39},

number = {8},

pages = {960--962},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid17671653,

title = {Multilineage hematopoietic reconstitution without clonal selection in AĐA-SCIĐ patients treated with stem cell gene therapy},

year  = {2007},

date = {2007-01-01},

journal = {J Clin Invest},

volume = {117},

number = {8},

pages = {2233--2240},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{orofino_no_2006,

title = {No influence of chromosome Y haplogroup variation in acute graft-versus-host disease in sardinia.},

author = {Orofino, Maria Grazia and Contu, Daniela and Argiolu, Francesca and Sanna, Maria Adele and Gaziev, Javid and La Nasa, Giorgio and Vacca, Adriana and Cao, Antonio and Cucca, Francesco},

doi = {10.1097/01.tp.0000235822.46197.61},

issn = {0041-1337 0041-1337},

year  = {2006},

date = {2006-12-01},

journal = {Transplantation},

volume = {82},

number = {11},

pages = {1529--1532},

abstract = {The donor-recipient sex-related mismatch has been reported as a risk factor for acute graft-versus-host disease (GVHD). However, the results obtained in previous studies appear to be contradictory. Here we evaluate the impact of donor-recipient sex-related mismatch in a series of 204 Sardinian individuals (92.1% of them affected by Beta- Thalassemia major) who underwent bone marrow transplantation (BMT) from human leukocyte antigen (HLA) identical siblings. In all, 78 of these patients had acute GVHD (aGVHD). We found that also in this homogenous group of patients from a homogenous population, the donor-female/recipient-male pair provided an increased risk for aGVHD when compared with a reference donor-male/recipient-male pair (POR=2.3},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16931591,

title = {A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening},

author = { V. Faà and P. P. Bettoli and M. Demurtas and M. Zanda and V. Ferri and A. Cao and M. C. Rosatelli},

year  = {2006},

date = {2006-09-01},

journal = {J Mol Diagn},

volume = {8},

number = {4},

pages = {499--503},

abstract = {Previous studies performed on Sardinian patients affected by cystic fibrosis (CF) have led to the identification of molecular defects in 87 of 88 patients. Two mutations, the F508del and T338I, were quite prevalent and accounted for 50% and 20% of the molecular defects, respectively. T338I has been detected rarely in other populations, most likely because of the genetic isolation of Sardinians. In the present study, we have performed a molecular analysis of the CF gene in eight Sardinian patients in whom only a single mutation has been defined. Using DNA analyses (Southern blot, single nucleotide polymorphisms, microsatellite analyses, and Extra-Long polymerase chain reaction) selected to detect gross gene rearrangement and by using mRNA studies, we detected a novel mutation c.54-5811_164 + 2186del8108ins182 in six of the eight patients investigated. This mutation consists of a gross deletion of 8108 bp spanning exon 2 with an insertion of 182 bp at the deletion junction, between nucleotide 54-5811 of intron 1 (IVS1 nt16864) and nucleotide 164 + 2186 of intron 2 (IVS2 nt 2186). By including the novel mutation in our mutation panel we are now able to reach a 95% detection rate, thereby improving the process of carrier detection and genetic counseling in Sardinia.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Bottini2006,

title = {Role of PTPN22 in type 1 diabetes and other autoimmune diseases},

author = {Bottini, Nunzio and Vang, Torkel and Cucca, Francesco and Mustelin, Tomas},

url = {http://www.ncbi.nlm.nih.gov/pubmed/16697661 http://linkinghub.elsevier.com/retrieve/pii/S1044532306000455},

doi = {10.1016/j.smim.2006.03.008},

issn = {10445323},

year  = {2006},

date = {2006-08-01},

journal = {Seminars in Immunology},

volume = {18},

number = {4},

pages = {207--213},

abstract = {We recently discovered that a single-nucleotide polymorphism (SNP) in the lymphoid tyrosine phosphatase (LYP), encoded by the PTPN22 gene on chromosome 1p13, correlates strongly with the incidence of type 1 diabetes (T1D) in two independent populations. This findings has now been verified by numerous studies and it has been expanded to rheumatoid arthritis, juvenile rheumatoid arthritis, systemic lupus erythematosus, Graves' disease, generalized vitiligo and other autoimmune disease. Here we review the genetics of the SNP and its association with autoimmunity, discuss the function of the phosphatase in signaling, the biochemistry of the disease-predisposing allele, and the possible mechanisms by which PTPN22 contributes to the development of human disease.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16813530,

title = {Mutations in OSŦM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement},

author = {A Pangrazio and P L Poliani and A Megarbane and G Lefranc and E Lanino and M Di Rocco and F Rucci and F Lucchini and M Ravanini and F Facchetti and M Abinun and P Vezzoni and A Villa and A Frattini},

year  = {2006},

date = {2006-07-01},

journal = {J Bone Miner Res},

volume = {21},

number = {7},

pages = {1098--1105},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16769824,

title = {Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle},

author = {M L Bang and X Li and R Littlefield and S Bremner and A Thor and K U Knowlton and R L Lieber and J Chen},

year  = {2006},

date = {2006-06-01},

journal = {J Cell Biol},

volume = {173},

number = {6},

pages = {905--916},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{sapone_zonulin_2006,

title = {Zonulin upregulation is associated with increased gut permeability in subjects with type 1 diabetes and their relatives.},

author = {Sapone, Anna and de Magistris, Laura and Pietzak, Michelle and Clemente, Maria G. and Tripathi, Amit and Cucca, Francesco and Lampis, Rosanna and Kryszak, Deborah and Carteni, Maria and Generoso, Maddalena and Iafusco, Dario and Prisco, Francesco and Laghi, Francesca and Riegler, Gabriele and Carratu, Romano and Counts, Debra and Fasano, Alessio},

issn = {0012-1797 0012-1797},

year  = {2006},

date = {2006-05-01},

journal = {Diabetes},

volume = {55},

number = {5},

pages = {1443--1449},

abstract = {Zonulin, a protein that modulates intestinal permeability, is upregulated in several autoimmune diseases and is involved in the pathogenesis of autoimmune diabetes in the BB/Wor animal model of the disease. To verify the association between serum zonulin levels and in vivo intestinal permeability in patients with type 1 diabetes, both parameters were investigated in different stages of the autoimmune process. Forty-two percent (141 of 339) of the patients had abnormal serum zonulin levels, as compared with age-matched control subjects. The increased zonulin levels correlated with increased intestinal permeability in vivo and changes in claudin-1, claudin-2, and myosin IXB genes expression, while no changes were detected in ZO1 and occludin genes expression. When tested in serum samples collected during the pre-type 1 diabetes phase, elevated serum zonulin was detected in 70% of subjects and preceded by 3.5 +/- 0.9 years the onset of the disease in those patients who went on to develop type 1 diabetes. Combined, these results suggest that zonulin upregulation is associated with increased intestinal permeability in a subgroup of type 1 diabetic patients. Zonulin upregulation seems to precede the onset of the disease, providing a possible link between increased intestinal permeability, environmental exposure to non-self antigens, and the development of autoimmunity in genetically susceptible individuals.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16604071,

title = {X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations},

author = {A Musio and A Selicorni and M L Focarelli and C Gervasini and D Milani and S Russo and P Vezzoni and L Larizza},

year  = {2006},

date = {2006-05-01},

journal = {Nat Genet},

volume = {38},

number = {5},

pages = {528--530},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16445840,

title = {Thalassaemia-like carriers not linked to the beta-globin gene cluster},

author = { V. Faà and A. Meloni and L. Moi and G. Ibba and M. Travi and A. Vitucci and A. Cao and M. C. Rosatelli},

year  = {2006},

date = {2006-03-01},

journal = {Br J Haematol},

volume = {132},

number = {5},

pages = {640--650},

abstract = {This study describes the largest series reported to date, of individuals belonging to unrelated families carrying a beta-thalassaemia-like phenotype in whom the beta-globin gene was found to be structurally intact by sequence analysis. This genetic determinant appears haematologically heterogeneous, displaying either a silent beta-thalassaemia-like phenotype or a typical beta-thalassaemia carrier-like phenotype in different families. Compound heterozygosity for both beta-thalassaemia-like determinant and typical beta-thalassaemia allele resulted either in thalassaemia intermedia or thalassaemia major. By linkage analysis both the silent and the typical beta-like determinants were found not to be linked to the beta-globin cluster. Sequence analysis of the hypersensitive site cores of locus control region and of the genes coding for the transcription factors erythroid Kruppel-like factor and nuclear factor (erythroid-derived 2) were normal. beta-globin mRNA levels determined by real-time polymerase chain reaction were reduced in both types of beta-like carriers. These results indicate the existence of causative genetic determinants not yet molecularly defined, but most likely, resulting from either the reduction or loss of function of a gene coding for unknown transcriptional regulator(s) of the beta-globin gene. The knowledge of these rare beta-thalassaemia-like determinants have implications for clinical and, especially, prenatal diagnosis of beta-thalassaemia.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pilia_heritability_2006,

title = {Heritability of cardiovascular and personality traits in 6,148 Sardinians.},

author = {Pilia, Giuseppe and Chen, Wei-Min and Scuteri, Angelo and Orru, Marco and Albai, Giuseppe and Dei, Mariano and Lai, Sandra and Usala, Gianluca and Lai, Monica and Loi, Paola and Mameli, Cinzia and Vacca, Loredana and Deiana, Manila and Olla, Nazario and Masala, Marco and Cao, Antonio and Najjar, Samer S. and Terracciano, Antonio and Nedorezov, Timur and Sharov, Alexei and Zonderman, Alan B. and Abecasis, Goncalo R. and Costa, Paul and Lakatta, Edward and Schlessinger, David},

doi = {10.1371/journal.pgen.0020132},

issn = {1553-7404 1553-7390},

year  = {2006},

date = {2006-01-01},

journal = {PLoS Genet},

volume = {2},

number = {8},

pages = {e132},

abstract = {In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14-102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance in young and old, and in males and females. In summary, we find significant evidence for heritability of many medically important traits, including cardiovascular function and personality. Evidence for heterogeneity by age and sex suggests that models allowing for these differences will be important in mapping quantitative traits.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Vang2005,

title = {Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.},

author = {Vang, Torkel and Congia, Mauro and Macis, Maria Doloretta and Musumeci, Lucia and Orr{ú}, Valeria and Zavattari, Patrizia and Nika, Konstantina and Tautz, Lutz and Task{é}n, Kjetil and Cucca, Francesco and Mustelin, Tomas and Bottini, Nunzio},

url = {http://www.nature.com/doifinder/10.1038/ng1673 http://www.ncbi.nlm.nih.gov/pubmed/16273109},

doi = {10.1038/ng1673},

issn = {1061-4036},

year  = {2005},

date = {2005-12-01},

journal = {Nature genetics},

volume = {37},

number = {12},

pages = {1317--9},

abstract = {A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{vang_autoimmune-associated_2005,

title = {Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.},

author = {Vang, Torkel and Congia, Mauro and Macis, Maria Doloretta and Musumeci, Lucia and Orru, Valeria and Zavattari, Patrizia and Nika, Konstantina and Tautz, Lutz and Tasken, Kjetil and Cucca, Francesco and Mustelin, Tomas and Bottini, Nunzio},

doi = {10.1038/ng1673},

issn = {1061-4036 1061-4036},

year  = {2005},

date = {2005-12-01},

journal = {Nat Genet},

volume = {37},

number = {12},

pages = {1317--1319},

abstract = {A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Vang2005-xl,

title = {Äutoimmune-associated lymphoid tyrosine phosphatase is a  gain-of-function variant},

author = {Torkel Vang and Mauro Congia and Maria Doloretta Macis and Lucia Musumeci and Valeria Orr'u and Patrizia Zavattari and Konstantina Nika and Lutz Tautz and Kjetil Taskén and Francesco Cucca and Tomas Mustelin and Nunzio Bottini},

doi = {10.1038/ng1673},

year  = {2005},

date = {2005-12-01},

urldate = {2005-12-01},

journal = {Nat. Genet.},

volume = {37},

number = {12},

pages = {1317--1319},

publisher = {Springer Science and Business Media LLC},

abstract = {Ä SNP in the gene PTPN22 is associated with type 1 diabetes, 

 rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease 

 and other autoimmune disorders. T cells from carriers of the 

 predisposing allele produce less interleukin-2 upon TCR 

 stimulation, and the encoded phosphatase has higher catalytic 

 activity and is a more potent negative regulator of T lymphocyte 

 activation. We conclude that the autoimmune-predisposing allele 

 is a gain-of-function mutant."},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid16195375,

title = {Rescue of AŦPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero},

author = {A Frattini and H C Blair and M G Sacco and F Cerisoli and F Faggioli and E M Catò and A Pangrazio and A Musio and F Rucci and C Sobacchi and A C Sharrow and S E Kalla and M G Bruzzone and R Colombo and M C Magli and P Vezzoni and A Villa},

year  = {2005},

date = {2005-01-01},

journal = {Proc Natl Acad Sci U S A},

volume = {102},

number = {41},

pages = {14629--14634},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid15837556,

title = {C1-inhibitor protects against brain ischemia-reperfusion injury via inhibition of cell recruitment and inflammation},

author = {C Storini and E Rossi and V Marrella and M Distaso and R Veerhuis and C Vergani and L Bergamaschini and M G De Simoni},

year  = {2005},

date = {2005-01-01},

journal = {Neurobiol Dis},

volume = {19},

number = {1-2},

pages = {10--17},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Marrosu2004,

title = {The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone.},

author = {Marrosu, Maria Giovanna and Motzo, Costantino and Murru, Raffaele and Lampis, Rosanna and Costa, Gianna and Zavattari, Patrizia and Contu, Daniela and Fadda, Elisabetta and Cocco, Eleonora and Cucca, Francesco},

url = {https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddh319 http://www.ncbi.nlm.nih.gov/pubmed/15471889},

doi = {10.1093/hmg/ddh319},

issn = {0964-6906},

year  = {2004},

date = {2004-12-01},

journal = {Human molecular genetics},

volume = {13},

number = {23},

pages = {2919--24},

abstract = {Type 1 diabetes (T1D) and multiple sclerosis (MS) are two autoimmune diseases which exhibit a considerably higher incidence in Sardinia compared with the surrounding southern European populations. Surprisingly, a 5-fold increased prevalence of T1D has also been observed in Sardinian MS patients. Susceptibility to both disorders is associated with common variants of the HLA-DRB1 and -DQB1 loci. In this study, we determined the relative contribution of genotype variation of these loci to the co-occurrence of the two disorders in Sardinia. We genotyped 1052 T1D patients and 1049 MS patients (31 of whom also had T1D) together with 1917 ethnically matched controls. On the basis of the absolute risks for T1D of the HLA-DRB1-DQB1 genotypes, we established that these loci would only contribute to a 2-fold increase in T1D prevalence in MS patients. From this evidence, we conclude that shared disease associations due to the HLA-DRB1-DQB1 loci provide only a partial explanation for the observed increased prevalence of T1D in Sardinian MS patients. The data suggest that variation at other non-HLA class II loci, and/or unknown environmental factors contribute significantly to the co-occurrence of these two traits.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{motzo_heterogeneity_2004,

title = {Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes.},

author = {Motzo, Costantino and Contu, Daniela and Cordell, Heather J. and Lampis, Rosanna and Congia, Mauro and Marrosu, Maria Giovanna and Todd, John A. and Devoto, Marcella and Cucca, Francesco},

issn = {0012-1797 0012-1797},

year  = {2004},

date = {2004-12-01},

journal = {Diabetes},

volume = {53},

number = {12},

pages = {3286--3291},

abstract = {There is still uncertainty concerning the joint action of the two established type 1 diabetes susceptibility loci, the HLA class II DQB1 and DRB1 genes (IDDM1) and the insulin gene (INS) promoter (IDDM2). Some previous studies reported independence, whereas others suggested heterogeneity in the relative effects of the genotypes at these disease loci. In this study, we have assessed the combined effects of the HLA-DQB1/DRB1 and INS genotypes in 944 type 1 diabetic patients and 1,023 control subjects, all from Sardinia. Genotype variation at INS significantly influenced disease susceptibility in all HLA genotype risk categories. However, there was a significant heterogeneity (P = 2.4 x 10(-4)) in the distribution of the INS genotypes in patients with different HLA genotypes. The INS predisposing genotype was less frequent (74.9%) in high-risk HLA genotype-positive patients than in those with HLA intermediate-risk (86.1%) and low-risk (84.8%) categories. Gene-gene interaction modeling led to rejection of the additive model, whereas a multiplicative model showed a better, albeit still partial, fit to the observed data. These genetic results are consistent with an interaction between the protein products of the HLA and INS alleles, in which both the affinity of the various HLA class II molecules for a preproinsulin-derived peptide and the levels of this peptide in the thymus act jointly as key regulators of type 1 diabetes autoimmunity.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid15564141,

title = {IL-3 or IL-7 increases ex vivo gene transfer efficiency in AĐA-SCIĐ BM CĐ34+ cells while maintaining in vivo lymphoid potential},

author = {F Ficara and D B Superchi and R J Hernández and C Mocchetti and N Carballido-Perrig and G Andolfi and S Deola and A Colombo and C Bordignon and J M Carballido and M G Roncarolo and A Aiuti},

year  = {2004},

date = {2004-12-01},

journal = {Mol Ther},

volume = {10},

number = {6},

pages = {1096--1108},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid15300850,

title = {ŦCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA},

author = {L Susani and A Pangrazio and C Sobacchi and A Taranta and G Mortier and R Savarirayan and A Villa and P Orchard and P Vezzoni and A Albertini and A Frattini and F Pagani},

year  = {2004},

date = {2004-09-01},

journal = {Hum Mutat},

volume = {24},

number = {3},

pages = {225--235},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{koeleman_genotype_2004,

title = {Genotype effects and epistasis in type 1 diabetes and HLA-DQ trans dimer associations with disease.},

author = {Koeleman, B. P. C. and Lie, B. A. and Undlien, D. E. and Dudbridge, F. and Thorsby, E. and de Vries, R. R. P. and Cucca, F. and Roep, B. O. and Giphart, M. J. and Todd, J. A.},

doi = {10.1038/sj.gene.6364106},

issn = {1466-4879 1466-4879},

year  = {2004},

date = {2004-08-01},

journal = {Genes Immun},

volume = {5},

number = {5},

pages = {381--388},

abstract = {Alleles of HLA class II genes DQB1, DQA1, and DRB1 in the MHC region are major determinants of genetic predisposition to type 1 diabetes (T1D). Several alleles of each of these three loci are associated with susceptibility or protection from disease. In addition, relative risks for some DR-DQ genotypes are not simply the sum or product of the single haplotype relative risks. For example, the risk of the DRB1*03-DQB1*02/DRB1*0401-DQB1*0302 genotype is often found to be higher than for the individual DRB1*03-DQB1*02 and DRB1*0401-DQB1*0302 homozygous genotypes. It has been hypothesized that this synergy or epistasis occurs through formation of highly susceptible trans-encoded HLA-DQ(alpha 1, beta 1) heterodimers. Here, we evaluated this hypothesis by estimating the disease associations of the range of DR-DQ genotypes and their inferred dimers in a large collection of nuclear families. We determined whether the risk of haplotypes in DRB1*0401-DQB1*0302-positive genotypes relative to the DRB1*03-DQB1*02-positive genotypes is different from that of DRB1*01-DQB1*0501, which we used as a baseline reference. Several haplotypes showed a different risk compared to DRB1*01-DQB1*0501, which correlated with their ability to form certain trans-encoded DQ dimers. This result provides new evidence for the potential importance of trans-encoded HLA DQ molecules in the determination of},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{zavattari_no_2004,

title = {No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population.},

author = {Zavattari, Patrizia and Deidda, Elisabetta and Pitzalis, Maristella and Zoa, Barbara and Moi, Loredana and Lampis, Rosanna and Contu, Daniela and Motzo, Costantino and Frongia, Paola and Angius, Efisio and Maioli, Mario and Todd, John A. and Cucca, Francesco},

issn = {0012-1797 0012-1797},

year  = {2004},

date = {2004-07-01},

journal = {Diabetes},

volume = {53},

number = {7},

pages = {1911--1914},

abstract = {Mutations of the forkhead/winged helix transcription factor FOXP3 gene on chromosome Xp11.23 cause a rare recessive monogenic disorder called IPEX (immune dysregulation, polyendocrinopathy, including type 1 diabetes, enteropathy, and},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid15056605,

title = {Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development},

year  = {2004},

date = {2004-06-01},

journal = {Hum Mol Genet},

volume = {13},

number = {11},

pages = {1171--1181},

abstract = {FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversus syndrome', BPES). Here we report that mice lacking Foxl2 recapitulate relevant features of human BPES: males and females are small and show distinctive craniofacial morphology with upper eyelids absent. Furthermore, in mice as in humans, sterility is confined to females. Features of Foxl2 null animals point toward a new mechanism of POF, with all major somatic cell lineages failing to develop around growing oocytes from the time of primordial follicle formation. Foxl2 disruption thus provides a model for histogenesis and reproductive competence of the ovary.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid15384985,

title = {The distal beta-globin CACCC box is required for maximal stimulation of the beta-globin gene by EKLF},

author = { M. G. Marini and I. Asunis and L. Porcu and M. G. Salgo and M. G. Loi and A. Brucchietti and A. Cao and P. Moi},

year  = {2004},

date = {2004-01-01},

journal = {Br J Haematol},

volume = {127},

number = {1},

pages = {114--117},

abstract = {The transcription factor erythroid Kruppel-like factor (EKLF) specifically activates the beta-globin gene by interacting with the proximal beta-globin CACCC box, a known hot spot for thalassaemia mutations. This study investigated whether EKLF could also bind to, and activate from, the distal CACCC, which is a rare site of thalassaemia mutations. Using band shift and transient expression analysis with wild type, single and double CACCC mutants, we established that the distal CACCC box is weakly bound by EKLF, but, when mutated, significantly impairs EKLF-dependent beta-globin stimulation. Thus, EKLF requires both CACCC boxes to maximally stimulate the beta-globin gene.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{maier_testing_2003,

title = {Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene.},

author = {Maier, L. M. and Twells, R. C. J. and Howson, J. M. M. and Lam, A. C. and Clayton, D. G. and Smyth, D. J. and Savage, D. and Carson, D. and Patterson, C. C. and Smink, L. J. and Walker, N. M. and Burren, O. S. and Nutland, S. and Rance, H. and Tuomilehto-Wolf, E. and Tuomilehto, J. and Guja, C. and Ionescu-Tirgoviste, C. and Undlien, D. E. and Ronningen, K. S. and Cucca, F. and Todd, J. A.},

doi = {10.1038/sj.gene.6364007},

issn = {1466-4879 1466-4879},

year  = {2003},

date = {2003-10-01},

journal = {Genes Immun},

volume = {4},

number = {7},

pages = {469--475},

abstract = {Variations in the interleukin 4 receptor A (IL4RA) gene have been reported to be associated with atopy, asthma, and allergy, which may occur less frequently in subjects with type 1 diabetes (T1D). Since atopy shows a humoral immune reactivity pattern, and T1D results from a cellular (T lymphocyte) response, we hypothesised that alleles predisposing to atopy could be protective for T1D and transmitted less often than the expected 50% from heterozygous parents to offspring with T1D. We genotyped seven exonic single nucleotide polymorphisms (SNPs) and the -3223 CtextgreaterT SNP in the putative promoter region of IL4RA in up to 3475 T1D families, including 1244 Finnish T1D families. Only the -3223 CtextgreaterT SNP showed evidence of negative association (P=0.014). There was some evidence for an interaction between -3233 CtextgreaterT and the T1D locus IDDM2 in the insulin gene region (P=0.001 in the combined and P=0.02 in the Finnish data set). We, therefore, cannot rule out a genetic effect of IL4RA in T1D, but it is not a major one.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12826371,

title = {T-cell receptor repertoire in healthy Sardinian subjects},

author = {Bonfigli, S. and Doro, M. G. and Fozza, C. and Derudas, D. and Dore, F. and Longinotti, M.},

year  = {2003},

date = {2003-07-01},

journal = {Hum Immunol},

volume = {64},

number = {7},

pages = {689--695},

abstract = {The T-cell receptor (TCR) Vbeta gene usage of CD4+ and CD8+ T-cell subpopulations was evaluated by flow cytometric analysis and by CDR3 spectratyping in healthy subjects belonging to Sardinian population, which is ethnically homogeneous and genetically distant from all other Italian and Caucasoid groups. As described in healthy Caucasian subjects, we found a nonrandom Vbeta gene usage and in some Vbeta families a significant skewed reactivity toward CD4+ T cells. Moreover, different subjects showed expansions in some Vbeta subfamilies, mainly in the CD8+ T cells. By CDR3 spectratyping analysis we found a significantly higher degree of skewness in the TCR Vbeta repertoire of CD8+ than in that of CD4+ T cells. The similarity found in the TCR Vbeta gene usage between the population examined and other Caucasoid groups suggest that the shape of the TCR repertoire is more influenced by rearrangement processes than ethnic background. However, genetic polymorphisms may condition the expression levels of some Vbetas, determining the variability of the TCR repertoire between different populations. Finally, the profound perturbations evidenced in the CD8+ T cell subpopulation could be related to a different response to the antigenic stimulation between CD8+ and CD4+ T lymphocytes.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{cucca_[correlation_2003,

title = {[Correlation between major histocompatibility complex (MHC)-class II and type 1 diabetes].},

author = {Cucca, F. and Contu, D. and Zavattari, P. and Murru, D.},

issn = {0391-1977 0391-1977},

year  = {2003},

date = {2003-06-01},

journal = {Minerva Endocrinol},

volume = {28},

number = {2},

pages = {111--122},

abstract = {The autoimmune disease type 1 diabetes (T1D) results from a T lymphocyte-dependent, selective destruction of the insulin-producing pancreatic beta-cells and subsequent irreversible insulin deficiency. The disease is caused by a combination of genetic and environmental factors. Numerous genetic, structural and biological studies have provided a convincing case that in human T1D and in its murine model, the non obese diabetes (NOD) mouse, the major histocompatibility complex (MHC) class II molecules, HLA-DQB1 and -DRB1 and their murine orthologues, IA and IE, are the major genetic determinants. The two loci act as a complex superlocus, with both haplotype- and genotype-specific effects. In humans the HLA class II molecule-association with the disease is constituted by a two-sided gradient from positively associated-high risk to negatively associated-low risk molecules. Very low risk corresponds to dominant protection from the disease. The protein structure of DQ/IA and DR/IE molecules have been established. Molecular modeling work revealed that there are marked similarities both within, and cross species between T1D protective class II molecules. Likewise, the T1D predisposing molecules show conserved similarities that differ with the shared structural patterns observed between the protective molecules. The available data provide evidence for a joint action of the class II peptide-binding pockets P1, P4 and P9 in disease susceptibility and resistance with a main role for P9 in DQ/IA and for P1 and P4 in DR/IE. Overall these observations suggest shared pathways in human and murine T1D.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12782591,

title = {Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts},

author = {A Musio and C Montagna and D Zambroni and E Indino and O Barbieri and L Citti and A Villa and T Ried and P Vezzoni},

year  = {2003},

date = {2003-06-01},

journal = {Cancer Res},

volume = {63},

number = {11},

pages = {2855--2863},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Gianfrancesco2003,

title = {Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate},

author = {Fernando Gianfrancesco and Teresa Esposito and Maria Neve Ombra and Paola Forabosco and Giuseppe Maninchedda and Mauro Fattorini and Stefania Casula and Simona Vaccargiu and Giuseppina Casu and Francesco Cardia and Ivo Deiana and Paola Melis and Mario Falchi and Mario Pirastu},

doi = {10.1086/375628},

issn = {0002-9297},

year  = {2003},

date = {2003-06-00},

journal = {The American Journal of Human Genetics},

volume = {72},

number = {6},

pages = {1479--1491},

publisher = {Elsevier BV},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{ueda_association_2003,

title = {Association of the Ŧ-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.},

author = {Ueda, Hironori and Howson, Joanna M. M. and Esposito, Laura and Heward, Joanne and Snook, Hywel and Chamberlain, Giselle and Rainbow, Daniel B. and Hunter, Kara M. D. and Smith, Annabel N. and Di Genova, Gianfranco and Herr, Mathias H. and Dahlman, Ingrid and Payne, Felicity and Smyth, Deborah and Lowe, Christopher and Twells, Rebecca C. J. and Howlett, Sarah and Healy, Barry and Nutland, Sarah and Rance, Helen E. and Everett, Vin and Smink, Luc J. and Lam, Alex C. and Cordell, Heather J. and Walker, Neil M. and Bordin, Cristina and Hulme, John and Motzo, Costantino and Cucca, Francesco and Hess, J. Fred and Metzker, Michael L. and Rogers, Jane and Gregory, Simon and Allahabadia, Amit and Nithiyananthan, Ratnasingam and Tuomilehto-Wolf, Eva and Tuomilehto, Jaakko and Bingley, Polly and Gillespie, Kathleen M. and Undlien, Dag E. and Ronningen, Kjersti S. and Guja, Cristian and Ionescu-Tirgoviste, Constantin and Savage, David A. and Maxwell, A. Peter and Carson, Dennis J. and Patterson, Chris C. and Franklyn, Jayne A. and Clayton, David G. and Peterson, Laurence B. and Wicker, Linda S. and Todd, John A. and Gough, Stephen C. L.},

doi = {10.1038/nature01621},

issn = {0028-0836 0028-0836},

year  = {2003},

date = {2003-05-01},

journal = {Nature},

volume = {423},

number = {6939},

pages = {506--511},

abstract = {Genes and mechanisms involved in common complex diseases, such as the autoimmune disorders that affect approximately 5% of the population, remain obscure. Here we identify polymorphisms of the cytotoxic T lymphocyte antigen 4 gene (CTLA4)--which encodes a vital negative regulatory molecule of the immune system--as candidates for primary determinants of risk of the common autoimmune disorders Graves' disease, autoimmune hypothyroidism and type 1 diabetes. In humans, disease susceptibility was mapped to a non-coding 6.1 kb 3' region of CTLA4, the common allelic variation of which was correlated with lower messenger RNA levels of the soluble alternative splice form of CTLA4. In the mouse model of type 1 diabetes, susceptibility was also associated with variation in CTLA-4 gene splicing with reduced production of a splice form encoding a molecule lacking the CD80/CD86 ligand-binding domain. Genetic mapping of variants conferring a small disease risk can identify pathways in complex disorders, as exemplified by our discovery of inherited, quantitative alterations of CTLA4 contributing to autoimmune tissue destruction.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid14584882,

title = {Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis},

author = {A Frattini and A Pangrazio and L Susani and C Sobacchi and M Mirolo and M Abinun and M Andolina and A Flanagan and E M Horwitz and E Mihci and L D Notarangelo and U Ramenghi and A Teti and J Van Hove and D Vujic and T Young and A Albertini and P J Orchard and P Vezzoni and A Villa},

year  = {2003},

date = {2003-01-01},

journal = {J Bone Miner Res},

volume = {18},

number = {10},

pages = {1740--1747},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{contu_sex-related_2002,

title = {Sex-related bias and exclusion mapping of the nonrecombinant portion of chromosome Y in human type 1 diabetes in the isolated founder population of Sardinia.},

author = {Contu, Daniela and Morelli, Laura and Zavattari, Patrizia and Lampis, Rosanna and Angius, Efisio and Frongia, Paola and Murru, Daniela and Maioli, Mario and Francalacci, Paolo and Todd, John A. and Cucca, Francesco},

issn = {0012-1797 0012-1797},

year  = {2002},

date = {2002-12-01},

journal = {Diabetes},

volume = {51},

number = {12},

pages = {3573--3576},

abstract = {A male excess in Sardinian type 1 diabetic cases has previously been reported and was largely restricted to those patients carrying the HLA-DR3/nonDR4 genotype. In the present study, we have measured the male- to-female (M:F) ratio in a sample set of 542 newly collected, early-onset type 1 diabetic Sardinian patients. This data not only confirm the excess of male type 1 diabetic patients overall (M:F ratio = 1.3},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12150951,

title = {Evidence for a role of the nerve growth factor receptor ŦrĄ in tyrosine phosphorylation and processing of beta-APP},

author = {P E Tarr and C Contursi and R Roncarati and C Noviello and E Ghersi and M H Scheinfeld and N Zambrano and T Russo and L DÁdamio},

year  = {2002},

date = {2002-07-01},

journal = {Biochem Biophys Res Commun},

volume = {295},

number = {2},

pages = {324--329},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12089448,

title = {Correction of AĐA-SCIĐ by stem cell gene therapy combined with nonmyeloablative conditioning},

year  = {2002},

date = {2002-06-01},

journal = {Science},

volume = {296},

number = {5577},

pages = {2410--2413},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12089448b,

title = {Correction of AĐA-SCIĐ by stem cell gene therapy combined with nonmyeloablative conditioning},

year  = {2002},

date = {2002-06-01},

journal = {Science},

volume = {296},

number = {5577},

pages = {2410--2413},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12089448c,

title = {Correction of AĐA-SCIĐ by stem cell gene therapy combined with nonmyeloablative conditioning},

year  = {2002},

date = {2002-06-01},

journal = {Science},

volume = {296},

number = {5577},

pages = {2410--2413},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12077301,

title = {Đome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland},

author = {I Zucchi and L Bini and D Albani and R Valaperta and S Liberatori and R Raggiaschi and C Montagna and L Susani and O Barbieri and V Pallini and P Vezzoni and R Dulbecco},

year  = {2002},

date = {2002-06-01},

journal = {Proc Natl Acad Sci U S A},

volume = {99},

number = {13},

pages = {8660--8665},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12011466,

title = {Ŧhe gamma-secretase-generated intracellular domain of beta-amyloid precursor protein binds Numb and inhibits Notch signaling},

author = {R Roncarati and N Sestan and M H Scheinfeld and B E Berechid and P A Lopez and O Meucci and J C McGlade and P Rakic and L DÁdamio},

year  = {2002},

date = {2002-05-01},

journal = {Proc Natl Acad Sci U S A},

volume = {99},

number = {10},

pages = {7102--7107},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{dahlman_parameters_2002,

title = {Parameters for reliable results in genetic association studies in common disease.},

author = {Dahlman, Ingrid and Eaves, Iain A. and Kosoy, Roman and Morrison, V. Anne and Heward, Joanne and Gough, Stephen C. L. and Allahabadia, Amit and Franklyn, Jayne A. and Tuomilehto, Jaakko and Tuomilehto-Wolf, Eva and Cucca, Francesco and Guja, Cristian and Ionescu-Tirgoviste, Constantin and Stevens, Helen and Carr, Philippa and Nutland, Sarah and McKinney, Patricia and Shield, Julian P. and Wang, William and Cordell, Heather J. and Walker, Neil and Todd, John A. and Concannon, Patrick},

doi = {10.1038/ng825},

issn = {1061-4036 1061-4036},

year  = {2002},

date = {2002-02-01},

journal = {Nat Genet},

volume = {30},

number = {2},

pages = {149--150},

abstract = {It is increasingly apparent that the identification of true genetic associations in common multifactorial disease will require studies comprising thousands rather than the hundreds of individuals employed to date. Using 2,873 families, we were unable to confirm a recently published association of the interleukin 12B gene in 422 type I diabetic families. These results emphasize the need for large datasets, small P values and independent replication if results are to be reliable.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid11724784,

title = {Jun NĦ2-terminal kinase (JNK) interacting protein 1 (JIP1) binds the cytoplasmic domain of the Alzheimer's beta-amyloid precursor protein (APP)},

author = {M H Scheinfeld and R Roncarati and P Vito and P A Lopez and M Abdallah and L DÁdamio},

year  = {2002},

date = {2002-02-01},

journal = {J Biol Chem},

volume = {277},

number = {5},

pages = {3767--3775},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid12490281,

title = {Cloning MafF by recognition site screening with the NFE2 tandem repeat of ĦS2: analysis of its role in globin and GCSl genes regulation},

author = { M. G. Marini and I. Asunis and K. Chan and J. Y. Chan and Y. W. Kan and L. Porcu and A. Cao and P. Moi},

year  = {2002},

date = {2002-01-01},

journal = {Blood Cells Mol Dis},

volume = {29},

number = {2},

pages = {145--158},

abstract = {The erythroid-specific enhancer within hypersensitivity site 2 (HS2) of the human beta-globin locus control region is required for high level globin gene expression. We used an oligonucleotide of the NF-E2 tandem repeat, within HS2, as recognition site probe to screen a K562 cDNA library for interacting transcription factors. A 2.3 kb full length cDNA encoding the b-zip transcription factor MafF was isolated. MafF can form both homodimers and high affinity heterodimers with Nrf1, Nrf2 and Nf-E2, three members of the CNC-bZip family. Despite obvious structural similarities with the other small Maf proteins, MafF differs in its tissue distribution and its inability to repress transcription when overexpressed as homodimer. In fact, in different cell lines and on different promoters (gamma-globin, beta-globin and glutamylcysteine synthetase genes) the MafF homodimers do not appreciably affect transcription of target promoters, whereas MafF/CNC member heterodimers act as weak transcriptional activators. Even though MafF was cloned using probes derived from the globin LCR, it is in the context of the GCSl promoter and in combination with Jun that MafF shows a rather distinct and specific regulatory role. These observations suggest that a complex network of small Maf and CNC-AP1 protein interactions might be involved in regulating transcription in diverse tissues or developmental stages.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Marrosu2001,

title = {Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia.},

author = {Marrosu, M G and Murru, R and Murru, M R and Costa, G and Zavattari, P and Whalen, M and Cocco, E and Mancosu, C and Schirru, L and Solla, E and Fadda, E and Melis, C and Porru, I and Rolesu, M and Cucca, F},

url = {http://www.ncbi.nlm.nih.gov/pubmed/11741834},

issn = {0964-6906},

year  = {2001},

date = {2001-12-01},

journal = {Human molecular genetics},

volume = {10},

number = {25},

pages = {2907--16},

abstract = {Several studies have indicated that multiple sclerosis (MS) is associated and linked to the major histocompatibility complex (MHC)/human leukocyte antigen (HLA) region of chromosome 6p21.3, but the exact location and nature of the primarily associated locus within the HLA complex is still controversial and largely presumptive. By linkage disequilibrium mapping, we have systematically investigated this chromosome region in the founder population of Sardinia to determine the relative associations of the various loci with MS. An overall 11.4 Mb region, which encompasses the whole HLA complex, was scanned with 19 microsatellite markers and with single nucleotide polymorphisms within 12 functional candidate genes and assessed for MS association using the extended transmission disequilibrium test (ETDT). A peak of association represented by the three adjacent DRB1, -DQA1 and -DQB1 loci was detected in the class II region. Two additional less significant areas of association were detected, respectively, in the centromeric side of the class II region at the DPB1 locus and, telomeric of the classically defined class I loci, at the D6S1683 microsatellite. Conditional ETDT analysis indicated that these regions of association could be independent of each other. Within the main peak of association, DRB1 and DQB1 contribute to the disease association independently of each other whereas DQA1 had no detectable primary genetic effects. We evaluated the haplotype distribution at the region showing the strongest association and found five DQB1-DRB1 haplotypes positively associated with MS in Sardinia. These consistently included all the haplotypes previously found associated with MS in the various human populations, thus supporting a primary effect of the products of these loci in MS. Overall these results are consistent with a multilocus model of the MHC encoded susceptibility to MS.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{catassi_distribution_2001,

title = {The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence.},

author = {Catassi, C. and Doloretta Macis, M. and Ratsch, I. M. and De Virgiliis, S. and Cucca, F.},

issn = {0001-2815 0001-2815},

year  = {2001},

date = {2001-12-01},

journal = {Tissue Antigens},

volume = {58},

number = {6},

pages = {402--406},

abstract = {Celiac disease (CD) is a multifactorial disorder of the small intestine caused by a permanent dietary intolerance to gluten. The combined presence of the HLA class II DQA1*0501 and DQB1*0201 alleles represents the major genetic component for disease predisposition. It has been shown that the Saharawi refugees living in northern Africa have a very high frequency of CD. In the present study we analysed this population to evaluate the degree of association with CD of the haplotypes and genotypes at the main HLA-DQB1 and DQA1 disease loci. We found a strong association of the DR3, DQB1*0201-DQA1*0501-positive haplotypes and genotypes. A very high frequency of DR3, DQB1*0201-DQA1*0501 was also observed in the general Saharawi population. These results indicate that there is a good correlation between disease prevalence and frequency of the main predisposing haplotype in the background population. However, the correlation is incomplete because similar frequencies of DR3 are also observed in populations such as the Sardinians showing a much lower prevalence of CD. We can conclude that the distribution of DQ genes in the Saharawi population only provides a partial explanation for the high prevalence of CD. Other factors, such as rapidly changing dietary habits and/or non-DQ genes, may also play some role.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}