pubblicazioni

@article{pmid33329604,

title = {Innovative Cell-Based Ŧherapies and Conditioning to Cure RAG Đeficiency},

author = {A Villa and V Capo and M C Castiello},

year  = {2020},

date = {2020-01-01},

journal = {Front Immunol},

volume = {11},

pages = {607926},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32402076,

title = {InteractomeSeq: a web server for the identification and profiling of domains and epitopes from phage display and next generation sequencing data},

author = {S Puccio and G Grillo and A Consiglio and M F Soluri and D Sblattero and D Cotella and C Santoro and S Liuni and G Bellis and E Lugli and C Peano and F Licciulli},

year  = {2020},

date = {2020-01-01},

journal = {Nucleic Acids Res},

volume = {48},

number = {W1},

pages = {W200-W207},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32849324,

title = {Đefining the Ħelicobacter pylori Đisease-Specific Antigenic Repertoire},

author = {M F Soluri and S Puccio and G Caredda and P Edomi and M M DÉlios and F Cianchi and A Troilo and C Santoro and D Sblattero and C Peano},

year  = {2020},

date = {2020-01-01},

journal = {Front Microbiol},

volume = {11},

pages = {1551},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32125291,

title = {IRF4 instructs effector Ŧreg differentiation and immune suppression in human cancer},

year  = {2020},

date = {2020-01-01},

journal = {J Clin Invest},

volume = {130},

number = {6},

pages = {3137--3150},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32283524,

title = {GAŦA Factor-Mediated Gene Regulation in Ħuman Erythropoiesis},

author = {O Romano and L Petiti and T Felix and V Meneghini and M Portafax and C Antoniani and M Amendola and S Bicciato and C Peano and A Miccio},

year  = {2020},

date = {2020-01-01},

journal = {iScience},

volume = {23},

number = {4},

pages = {101018},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33046887,

title = {Ŧwo subsets of stem-like CĐ8+ memory Ŧ cell progenitors with distinct fate commitments in humans},

author = {G Galletti and G De Simone and E M C Mazza and S Puccio and C Mezzanotte and T M Bi and A N Davydov and M Metsger and E Scamardella and G Alvisi and F De Paoli and V Zanon and A Scarpa and B Camisa and F S Colombo and A Anselmo and C Peano and S Polletti and D Mavilio and L Gattinoni and S K Boi and B A Youngblood and R E Jones and D M Baird and E Gostick and S Llewellyn-Lacey and K Ladell and D A Price and D M Chudakov and E W Newell and M Casucci and E Lugli},

year  = {2020},

date = {2020-01-01},

journal = {Nat Immunol},

volume = {21},

number = {12},

pages = {1552--1562},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31908654,

title = {Microarray expression studies on bone marrow of patients with Shwachman-Điamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype},

author = {A W Khan and A Minelli and A Frattini and G Montalbano and A Bogni and M Fabbri and G Porta and F Acquati and R M Pinto and E Bergami and R Mura and A Pegoraro and S Cesaro and M Cipolli and M Zecca and C Danesino and F Locatelli and E Maserati and F Pasquali and R Valli},

year  = {2020},

date = {2020-01-01},

journal = {Mol Cytogenet},

volume = {13},

pages = {1},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32528940,

title = {Ŧoward Cardiac Regeneration: Combination of Pluripotent Stem Cell-Based Ŧherapies and Bioengineering Strategies},

author = {M Mazzola and E Di Pasquale},

year  = {2020},

date = {2020-01-01},

journal = {Front Bioeng Biotechnol},

volume = {8},

pages = {455},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31647200,

title = {Myopalladin promotes muscle growth through modulation of the serum response factor pathway},

author = {M C Filomena and D L Yamamoto and M Caremani and V K Kadarla and G Mastrototaro and S Serio and A Vydyanath and M Mutarelli and A Garofalo and I Pertici and R Knöll and V Nigro and P K Luther and R L Lieber and M R Beck and M Linari and M L Bang},

year  = {2020},

date = {2020-01-01},

journal = {J Cachexia Sarcopenia Muscle},

volume = {11},

number = {1},

pages = {169--194},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33488405,

title = {Peptide-Based Ŧargeting of the L-Ŧype Calcium Channel Corrects the Loss-of-Function Phenotype of Ŧwo Novel Mutations of the CACNA1 Gene Associated With Brugada Syndrome},

author = {V Di Mauro and P Ceriotti and F Lodola and N Salvarani and J Modica and M L Bang and A Mazzanti and C Napolitano and S G Priori and D Catalucci},

year  = {2020},

date = {2020-01-01},

journal = {Front Physiol},

volume = {11},

pages = {616819},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32094358,

title = {Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia},

author = { J. H. Marcus and C. Posth and H. Ringbauer and L. Lai and R. Skeates and C. Sidore and J. Beckett and A. Furtwängler and A. Olivieri and C. W. K. Chiang and H. Al-Asadi and K. Dey and T. A. Joseph and C. C. Liu and C. Der Sarkissian and R. Radzevičiūtė and M. Michel and M. G. Gradoli and P. Marongiu and S. Rubino and V. Mazzarello and D. Rovina and A. La Fragola and R. M. Serra and P. Bandiera and R. Bianucci and E. Pompianu and C. Murgia and M. Guirguis and R. P. Orquin and N. Tuross and P. van Dommelen and W. Haak and D. Reich and D. Schlessinger and F. Cucca and J. Krause and J. Novembre},

year  = {2020},

date = {2020-01-01},

journal = {Nat Commun},

volume = {11},

number = {1},

pages = {939},

abstract = {The island of Sardinia has been of particular interest to geneticists for decades. The current model for Sardinia's genetic history describes the island as harboring a founder population that was established largely from the Neolithic peoples of southern Europe and remained isolated from later Bronze Age expansions on the mainland. To evaluate this model, we generate genome-wide ancient DNA data for 70 individuals from 21 Sardinian archaeological sites spanning the Middle Neolithic through the Medieval period. The earliest individuals show a strong affinity to western Mediterranean Neolithic populations, followed by an extended period of genetic continuity on the island through the Nuragic period (second millennium BCE). Beginning with individuals from Phoenician/Punic sites (first millennium BCE), we observe spatially-varying signals of admixture with sources principally from the eastern and northern Mediterranean. Overall, our analysis sheds light on the genetic history of Sardinia, revealing how relationships to mainland populations shifted over time.},

note = {[PubMed Central:hrefhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039977PMC7039977] [DOI:hrefhttps://dx.doi.org/10.1038/s41467-020-14523-610.1038/s41467-020-14523-6] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/3128189731281897]},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32719615,

title = {Ŧhe Broad Spectrum of LMNA Cardiac Điseases: From Molecular Mechanisms to Clinical Phenotype},

author = {S Crasto and I My and E Di Pasquale},

year  = {2020},

date = {2020-01-01},

journal = {Front Physiol},

volume = {11},

pages = {761},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32690655,

title = {Human Hepatitis B Viral Infection Outcomes Are Linked to Naturally Occurring Variants of HLA-DOA That Have Altered Function},

author = {A. M. Graves and F. Virdis and E. Morrison and M. Álvaro-Benito and A. A. Khan and C. Freund and T. V. Golovkina and L. K. Denzin},

year  = {2020},

date = {2020-01-01},

journal = {J Immunol},

volume = {205},

number = {4},

pages = {923--935},

abstract = {HLA molecules of the MHC class II (MHCII) bind and present pathogen-derived peptides for CD4 T cell activation. Peptide loading of MHCII in the endosomes of cells is controlled by the interplay of the nonclassical MHCII molecules, HLA-DM (DM) and HLA-DO (DO). DM catalyzes peptide loading, whereas DO, an MHCII substrate mimic, prevents DM from interacting with MHCII, resulting in an altered MHCII-peptide repertoire and increased MHCII-CLIP. Although the two genes encoding DO (DOA and DOB) are considered nonpolymorphic, there are rare natural variants. Our previous work identified DOB variants that altered DO function. In this study, we show that natural variation in the DOA gene also impacts DO function. Using the 1000 Genomes Project database, we show that ∼98% of individuals express the canonical DOA*0101 allele, and the remaining individuals mostly express DOA*0102, which we found was a gain-of-function allele. Analysis of 25 natural occurring DOα variants, which included the common alleles, identified three null variants and one variant with reduced and nine with increased ability to modulate DM activity. Unexpectedly, several of the variants produced reduced DO protein levels yet efficiently inhibited DM activity. Finally, analysis of associated single-nucleotide polymorphisms genetically linked the DOA*0102 common allele, a gain-of-function variant, with human hepatitis B viral persistence. In contrast, we found that the DOα F114L null allele was linked with viral clearance. Collectively, these studies show that natural variation occurring in the human DOA gene impacts DO function and can be linked to specific outcomes of viral infections.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33123155,

title = {Evolutionarily Selected Overexpression of the Cytokine BAFF Enhances Mucosal Immune Response Against P. falciparum},

author = { V. Lodde and M. Floris and I. Beerman and R. Munk and R. Guha and M. Steri and V. Orrù and K. Abdelmohsen and P. D. Crompton and M. Gorospe and M. L. Idda and F. Cucca},

year  = {2020},

date = {2020-01-01},

journal = {Front Immunol},

volume = {11},

pages = {575103},

abstract = {We have previously shown that a variant of the TNFSF13B gene that we called BAFF-var increases the production of the cytokine BAFF, upregulating humoral immunity and increasing the risk for certain autoimmune diseases. In addition, genetic population signatures revealed that BAFF-var was evolutionarily advantageous, most likely by increasing resistance to malaria infection, which is a prime candidate for selective pressure. To evaluate whether the increased soluble BAFF (sBAFF) production confers protection, we experimentally assessed the role of BAFF-var in response to malaria antigens. Lysates of erythrocytes infected with Plasmodium falciparum (iRBCs) or left uninfected (uRBCs, control) were used to treat peripheral blood mononuclear cells (PBMCs) with distinct BAFF genotypes. The PBMCs purified from BAFF-var donors and treated with iRBCs showed different levels of specific cells, immunoglobulins, and cytokines as compared with BAFF-WT. In particular, a relevant differential effect on mucosal immunity B subpopulations have been observed. These findings point to specific immune cells and molecules through which the evolutionary selected BAFF-var may have improved fitness during P. falciparum infection.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32528964,

title = {Delta-Globin Gene Expression Is Enhanced in vivo by Interferon Type I},

author = {Manchinu, M. F. and Simbula, M. and Caria, C. A. and Musu, E. and Perseu, L. and Porcu, S. and Steri, M. and Poddie, D. and Frau, J. and Cocco, E. and Manunza, L. and Barella, S. and Ristaldi, M. S.},

year  = {2020},

date = {2020-01-01},

journal = {Front Med (Lausanne)},

volume = {7},

pages = {163},

abstract = {Beta hemoglobinopathies are widely spread monogenic lethal diseases. Delta-globin gene activation has been proposed as a possible approach for curing these pathologies. The therapeutic potential of delta-globin, the non-alpha component of Hemoglobin A2 (α2δ2; HbA2), has been demonstrated in a mouse model of beta thalassemia, while its anti-sickling effect, comparable to that of gamma globin, was established some time ago. Here we show that the delta-globin mRNA level is considerably increased in a Deoxyribonuclease II-alpha knockout mouse model in which type 1 interferon (interferon beta, IFNb) is activated. IFNb activation in the fetal liver improves the delta-globin mRNA level, while the beta-globin mRNA level is significantly reduced. In addition, we show that HbA2 is significantly increased in patients with multiple sclerosis under type 1 interferon treatment. Our results represent a proof of principle that delta-globin expression can be enhanced through the use of molecules. This observation is potentially interesting in view of a pharmacological approach able to increase the HbA2 level.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31497877,

title = {Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts},

author = {Buers, I. and Persico, I. and Schöning, L. and Nitschke, Y. and Di Rocco, M. and Loi, A. and Sahi, P. K. and Utine, G. E. and Bayraktar-Tanyeri, B. and Zampino, G. and Crisponi, G. and Rutsch, F. and Crisponi, L.},

year  = {2020},

date = {2020-01-01},

journal = {Clin Genet},

volume = {97},

number = {1},

pages = {209--221},

abstract = {Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. The affected individuals who survived the first critical years of life, develop cold-induced sweating and scoliosis in early childhood. The disease is caused by variants in the CRLF1 or in the CLCF1 gene. Both proteins form a heterodimeric complex that acts on cells expressing the ciliary neurotrophic factor receptor (CNTFR). CS/CISS belongs to the family of "CNTFR-related disorders" showing a similar clinical phenotype. Recently, variants in other genes, including KLHL7, NALCN, MAGEL2 and SCN2A, previously linked to other diseases, have been associated with a CS/CISS-like phenotype. Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome (NALCN), Chitayat-Hall/Schaaf-Yang syndrome (MAGEL2), and early infantile epileptic encephalopathy-11 syndrome (SCN2A) all share an overlapping phenotype with CS/CISS, especially in the neonatal period. This review aims to summarize the existing literature on CS/CISS, focusing on the current state of differential diagnosis, pathogenesis and treatment concepts in order to achieve an accurate and rapid diagnosis. This will improve patient management and enable specific treatments for the affected individuals.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30678613b,

title = {Oxidative Status in Multiple Sclerosis and Off-Targets of Antioxidants: The Case of Edaravone},

author = {Agresti, C. and Mechelli, R. and Olla, S. and Veroni, C. and Eleuteri, C. and Ristori, G. and Salvetti, M.},

year  = {2020},

date = {2020-01-01},

journal = {Curr Med Chem},

volume = {27},

number = {13},

pages = {2095--2105},

abstract = {MS is a chronic inflammatory disease of the CNS leading to demyelination and neurodegeneration, with a complex and still to be clarified aetiology. Several data, coming from patients' samples and from animal models, show that Oxidative Status (OS) plays an important role in MS pathogenesis. Overproduction of reactive oxidative species by macrophages/microglia can bring about cellular injury and ensuing cell death by oxidizing cardinal cellular components. Oxidized molecules are present in active MS lesions and are associated with neurodegeneration. We undertook a structured search of bibliographic databases for peer-reviewed research literature focusing on OS in MS. The contents of the selected papers were described in the context of a conceptual framework. A special emphasis was given to the results of our study in the field. The results of our three recent studies were put in the context and discussed taking into account the literature on the topic. Oxidative damage underpinned an imbalance shared by MS and neurodegenerative diseases such as Alzheimer and Parkinson diseases. In people with clinically isolated syndrome (an early phase of MS) oxidative stress proved to contribute to disease pathophysiology and to provide biomarkers that may help predict disease evolution. A drug screening platform based on multiple assays to test the remyelinating potential of library of approved compounds showed two anti-oxidants, edaravone and 5-methyl-7- methoxyisoflavone, as active drugs. Moreover, an analysis of 'structure activity relationship' showed off-targets sites of these compounds that accounted for their remyelinating activity, irrespective of their antioxidant action. Overall, edaravone emerges as a candidate to treat complex disease such as MS, where inflammation, oxidative stress and neurodegeneration contribute to disease progression, together or individually, in different phases and disease types. Furthermore, approaches based on drug repositioning seem to maintain the promise of helping discover novel treatment for complex diseases, where molecular targets are largely unknown.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30678613,

title = {Oxidative Status in Multiple Sclerosis and Off-Targets of Antioxidants: The Case of Edaravone},

author = {Cristina Agresti and Rosella Mechelli and Stefania Olla and Caterina Veroni and Cecilia Eleuteri and Giovanni Ristori and Marco Salvetti},

year  = {2020},

date = {2020-01-01},

journal = {Curr Med Chem},

volume = {27},

number = {13},

pages = {2095--2105},

abstract = {MS is a chronic inflammatory disease of the CNS leading to demyelination and neurodegeneration, with a complex and still to be clarified aetiology. Several data, coming from patients' samples and from animal models, show that Oxidative Status (OS) plays an important role in MS pathogenesis. Overproduction of reactive oxidative species by macrophages/microglia can bring about cellular injury and ensuing cell death by oxidizing cardinal cellular components. Oxidized molecules are present in active MS lesions and are associated with neurodegeneration. We undertook a structured search of bibliographic databases for peer-reviewed research literature focusing on OS in MS. The contents of the selected papers were described in the context of a conceptual framework. A special emphasis was given to the results of our study in the field. The results of our three recent studies were put in the context and discussed taking into account the literature on the topic. Oxidative damage underpinned an imbalance shared by MS and neurodegenerative diseases such as Alzheimer and Parkinson diseases. In people with clinically isolated syndrome (an early phase of MS) oxidative stress proved to contribute to disease pathophysiology and to provide biomarkers that may help predict disease evolution. A drug screening platform based on multiple assays to test the remyelinating potential of library of approved compounds showed two anti-oxidants, edaravone and 5-methyl-7- methoxyisoflavone, as active drugs. Moreover, an analysis of 'structure activity relationship' showed off-targets sites of these compounds that accounted for their remyelinating activity, irrespective of their antioxidant action. Overall, edaravone emerges as a candidate to treat complex disease such as MS, where inflammation, oxidative stress and neurodegeneration contribute to disease progression, together or individually, in different phases and disease types. Furthermore, approaches based on drug repositioning seem to maintain the promise of helping discover novel treatment for complex diseases, where molecular targets are largely unknown.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32929287,

title = {Complex genetic signatures in immune cells underlie autoimmunity and inform therapy},

author = {V Orrù and M Steri and C Sidore and M Marongiu and V Serra and S Olla and G Sole and S Lai and M Dei and A Mulas and F Virdis and MG Piras and M Lobina and M Marongiu and M Pitzalis and F Deidda and A Loizedda and S Onano and M Zoledziewska and S Sawcer and M Devoto and M Gorospe and GR Abecasis and M Floris and M Pala and D Schlessinger and E Fiorillo and F Cucca},

doi = {10.1038/s41588-020-0684-4},

year  = {2020},

date = {2020-01-01},

urldate = {2020-01-01},

journal = {Nat Genet},

volume = {52},

number = {10},

pages = {1036--1045},

abstract = {We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of 3,757 Sardinians. We detected 122 significant (P < 1.28 × 10-11) independent association signals for 459 cell traits at 70 loci (53 of them novel) identifying several molecules and mechanisms involved in cell regulation. Furthermore, 53 signals at 36 loci overlapped with previously reported disease-associated signals, predominantly for autoimmune disorders, highlighting intermediate phenotypes in pathogenesis. Collectively, our findings illustrate complex genetic regulation of immune cells with highly selective effects on autoimmune disease risk at the cell-subtype level. These results identify drug-targetable pathways informing the design of more specific treatments for autoimmune diseases.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33004804,

title = {Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids},

author = {A van der Graaf and A Claringbould and A Rimbert and H J Westra and Y Li and C Wijmenga and S Sanna and B T Heijmans and P A C ' Hoen and J B J van Meurs and R Jansen and L Franke},

year  = {2020},

date = {2020-01-01},

journal = {Nat Commun},

volume = {11},

number = {1},

pages = {4930},

abstract = {Inference of causality between gene expression and complex traits using Mendelian randomization (MR) is confounded by pleiotropy and linkage disequilibrium (LD) of gene-expression quantitative trait loci (eQTL). Here, we propose an MR method, MR-link, that accounts for unobserved pleiotropy and LD by leveraging information from individual-level data, even when only one eQTL variant is present. In simulations, MR-link shows false-positive rates close to expectation (median 0.05) and high power (up to 0.89), outperforming all other tested MR methods and coloc. Application of MR-link to low-density lipoprotein cholesterol (LDL-C) measurements in 12,449 individuals with expression and protein QTL summary statistics from blood and liver identifies 25 genes causally linked to LDL-C. These include the known SORT1 and ApoE genes as well as PVRL2, located in the APOE locus, for which a causal role in liver was not known. Our results showcase the strength of MR-link for transcriptome-wide causal inferences.},

note = {[PubMed Central:hrefhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530717PMC7530717] [DOI:hrefhttps://dx.doi.org/10.1038/s41467-020-18716-x10.1038/s41467-020-18716-x] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/2346866323468663]},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31949199,

title = {Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma},

author = {G Pira and P Uva and A M Scanu and P C Rocca and L Murgia and E Uleri and C Piu and A Porcu and C Carru and A Manca and I Persico and M R Muroni and F Sanges and C Serra and A Dolei and A Angius and M R De Miglio},

year  = {2020},

date = {2020-01-01},

journal = {Sci Rep},

volume = {10},

number = {1},

pages = {432},

abstract = {We focused on an integrated view of genomic changes in Colorectal cancer (CRC) and distant normal colon tissue (NTC) to test the effectiveness of expression profiling on identification of molecular targets. We performed transcriptome on 16 primary coupled CRC and NTC tissues. We identified pathways and networks related to pathophysiology of CRC and selected potential therapeutic targets. CRC cells have multiple ways to reprogram its transcriptome: a functional enrichment analysis in 285 genes, 25% mutated, showed that they control the major cellular processes known to promote tumorigenesis. Among the genes showing alternative splicing, cell cycle related genes were upregulated (CCND1, CDC25B, MCM2, MCM3), while genes involved in fatty acid metabolism (ACAAA2, ACADS, ACAT1, ACOX, CPT1A, HMGCS2) were downregulated. Overall 148 genes showed differential splicing identifying 17 new isoforms. Most of them are involved in the pathogenesis of CRC, although the functions of these variants remain unknown. We identified 2 in-frame fusion events, KRT19-KRT18 and EEF1A1-HSP90AB1, encoding for chemical proteins in two CRC patients. We draw a functional interactome map involving integrated multiple genomic features in CRC. Finally, we underline that two functional cell programs are prevalently deregulated and absolutely crucial to determinate and sustain CRC phenotype.},

note = {[PubMed Central:hrefhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965099PMC6965099] [DOI:hrefhttps://dx.doi.org/10.1038/s41598-019-57311-z10.1038/s41598-019-57311-z] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/2548054825480548]},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Tore2011,

title = {Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis},

author = {Silvia Tore and Stefania Casula and Giuseppina Casu and Maria Pina Concas and Paola Pistidda and Ivana Persico and Alessandro Sassu and Giovanni Battista Maestrale and Caterina Mele and Maria Rosa Caruso and Bibiana Bonerba and Paolo Usai and Ivo Deiana and Timothy Thornton and Mario Pirastu and Paola Forabosco},

editor = {Nicholas J. Schork},

doi = {10.1371/journal.pgen.1001281},

issn = {1553-7404},

year  = {2020},

date = {2020-01-00},

urldate = {2011-01-20},

journal = {PLoS Genet},

volume = {7},

number = {1},

publisher = {Public Library of Science (PLoS)},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31497877b,

title = {Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts},

author = {Insa Buers and Ivana Persico and Lara Schöning and Yvonne Nitschke and Maja Di Rocco and Angela Loi and Puneet Kaur Sahi and Gulen Eda Utine and Bilge Bayraktar-Tanyeri and Giuseppe Zampino and Giangiorgio Crisponi and Frank Rutsch and Laura Crisponi},

doi = {10.1111/cge.13639},

issn = {1399-0004},

year  = {2020},

date = {2020-01-00},

journal = {Clin Genet},

volume = {97},

number = {1},

pages = {209--221},

abstract = {Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. The affected individuals who survived the first critical years of life, develop cold-induced sweating and scoliosis in early childhood. The disease is caused by variants in the CRLF1 or in the CLCF1 gene. Both proteins form a heterodimeric complex that acts on cells expressing the ciliary neurotrophic factor receptor (CNTFR). CS/CISS belongs to the family of "CNTFR-related disorders" showing a similar clinical phenotype. Recently, variants in other genes, including KLHL7, NALCN, MAGEL2 and SCN2A, previously linked to other diseases, have been associated with a CS/CISS-like phenotype. Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome (NALCN), Chitayat-Hall/Schaaf-Yang syndrome (MAGEL2), and early infantile epileptic encephalopathy-11 syndrome (SCN2A) all share an overlapping phenotype with CS/CISS, especially in the neonatal period. This review aims to summarize the existing literature on CS/CISS, focusing on the current state of differential diagnosis, pathogenesis and treatment concepts in order to achieve an accurate and rapid diagnosis. This will improve patient management and enable specific treatments for the affected individuals.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31473989,

title = {Ŧranscriptome Analysis of Reticulated Platelets Reveals a Prothrombotic Profile},

author = {D Bongiovanni and G Santamaria and M Klug and D Santovito and A Felicetta and M Hristov and M von Scheidt and M Aslani and J Cibella and C Weber and A Moretti and K L Laugwitz and C Peano and I Bernlochner},

year  = {2019},

date = {2019-11-01},

journal = {Thromb Haemost},

volume = {119},

number = {11},

pages = {1795--1806},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Balzano2019-fl,

title = {Epigenetics, stem cells, and autophagy: Exploring a path 

 involving miRNA},

author = {Francesca Balzano and Ilaria Campesi and Sara Cruciani and Giuseppe Garroni and Emanuela Bellu and Silvia Dei Giudici and Andrea Angius and Annalisa Oggiano and Vincenzo Rallo and Giampiero Capobianco and Salvatore Dessole and Carlo Ventura and Andrea Montella and Margherita Maioli},

year  = {2019},

date = {2019-10-01},

journal = {Int. J. Mol. Sci.},

volume = {20},

number = {20},

pages = {5091},

publisher = {MDPI AG},

abstract = {MiRNAs, a small family of non-coding RNA, are now emerging as 

 regulators of stem cell pluripotency, differentiation, and 

 autophagy, thus controlling stem cell behavior. Stem cells are 

 undifferentiated elements capable to acquire specific phenotype 

 under different kind of stimuli, being a main tool for 

 regenerative medicine. Within this context, we have previously 

 shown that stem cells isolated from Wharton jelly multipotent 

 stem cells (WJ-MSCs) exhibit gender differences in the 

 expression of the stemness related gene OCT4 and the epigenetic 

 modulator gene DNA-Methyltransferase (DNMT1). Here, we further 

 analyze this gender difference, evaluating adipogenic and 

 osteogenic differentiation potential, autophagic process, and 

 expression of miR-145, miR-148a, and miR-185 in WJ-MSCs derived 

 from males and females. These miRNAs were selected since they 

 are involved in OCT4 and DNMT1 gene expression, and in stem cell 

 differentiation. Our results indicate a difference in the 

 regulatory circuit involving miR-148a/DNMT1/OCT4 autophagy in 

 male WJ-MSCs as compared to female cells. Moreover, no 

 difference was detected in the expression of the 

 two-differentiation regulating miRNA (miR-145 and miR-185). 

 Taken together, our results highlight a different behavior of 

 WJ-MSCs from males and females, disclosing the chance to better 

 understand cellular processes as autophagy and stemness, usable 

 for future clinical applications.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31490510,

title = {Antiproliferative activity of vanadium compounds: effects on the major malignant melanoma molecular pathways},

author = {Marina Pisano and Claudia Arru and Maria Serra and Grazia Galleri and Daniele Sanna and Eugenio Garribba and Giuseppe Palmieri and Carla Rozzo },

url = {https://irgb.cnr.it/wp-content/uploads/2024/05/Pisano-et-al-2019-reprint.pdf},

year  = {2019},

date = {2019-08-21},

urldate = {2019-08-21},

journal = {Metallomics},

volume = {11},

number = {10},

pages = {1687-1699},

abstract = {Malignant melanoma (MM) is the most fatal skin cancer, whose incidence has critically increased in the last decades. Recent molecular therapies are giving excellent results in the remission of melanoma but often they induce drug resistance in patients limiting their therapeutic efficacy. The search for new compounds able to overcome drug resistance is therefore essential. Vanadium has recently been cited for its anticancer properties against several tumors, but only a few data regard its effect against MM. In a previous work we demonstrated the anticancer activity of four different vanadium species towards MM cell lines. The inorganic anion vanadate(v) (VN) and the oxidovanadium(iv) complex [VO(dhp)2] (VS2), where dhp is 1,2-dimethyl-3-hydroxy-4(1H)-pyridinonate, showed IC50 values of 4.7 and 2.6 μM, respectively, against the A375 MM cell line, causing apoptosis and cell cycle arrest. Here we demonstrate the involvement of Reactive Oxygen Species (ROS) production in the pro-apoptotic effect of these two V species and evaluate the activation of different cell cycle regulators, to investigate the molecular mechanisms involved in their antitumor activity. We establish that VN and VS2 treatments reduce the phosphorylation of extracellular-signal regulated kinase (ERK) by about 80%, causing the deactivation of the mitogen activated protein kinase (MAPK) pathway in A375 cells. VN and VS2 also induce dephosphorylation of the retinoblastoma protein (Rb) (VN 100% and VS2 90%), together with a pronounced increase of cyclin-dependent kinase inhibitor 1 p21 (p21Cip1) protein expression up to 1800%. Taken together, our results confirm the antitumor properties of vanadium against melanoma cells, highlighting its ability to induce apoptosis through generation of ROS and cell cycle arrest by counteracting MAPK pathway activation and strongly inducing p21Cip1 expression and Rb hypo-phosphorylation.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30910378,

title = {potassium excretion},

author = {D. Zanetti and A. Rao and S. Gustafsson and T. L. Assimes and S. B. Montgomery and E. Ingelsson},

year  = {2019},

date = {2019-05-01},

journal = {Kidney Int},

volume = {95},

number = {5},

pages = {1197--1208},

abstract = {Urine biomarkers reflecting kidney function and handling of dietary sodium and potassium are strongly associated with several common diseases including chronic kidney disease, cardiovascular disease, and diabetes mellitus. Knowledge about the genetic determinants of these biomarkers may shed light on pathophysiological mechanisms underlying the development of these diseases. We performed genome-wide association studies of urinary albumin: creatinine ratio (UACR), urinary potassium: creatinine ratio (UK/UCr), urinary sodium: creatinine ratio (UNa/UCr) and urinary sodium: potassium ratio (UNa/UK) in up to 218,450 (discovery) and 109,166 (replication) unrelated individuals of European ancestry from the UK Biobank. Further, we explored genetic correlations, tissue-specific gene expression, and possible genes implicated in the regulation of these biomarkers. After replication, we identified 19 genome-wide significant independent loci associated with UACR, 6 each with UK/UCr and UNa/UCr, and 4 with UNa/UK. In addition to 22 novel associations, we confirmed several established associations, including between the CUBN locus and microalbuminuria. We detected high pairwise genetic correlation across the urinary biomarkers, and between their levels and several physiological measurements. We highlight GIPR, a potential diabetes drug target, as possibly implicated in the genetic control of urinary potassium excretion, and NRBP1, a locus associated with gout, as plausibly involved in sodium and albumin excretion. Overall, we identified 22 novel genome-wide significant associations with urinary biomarkers and confirmed several previously established associations, providing new insights into the genetic basis of these traits and their connection to chronic diseases.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30981783,

title = {Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study},

author = {F Ferrua and M P Cicalese and S Galimberti and S Giannelli and F Dionisio and F Barzaghi and M Migliavacca and M E Bernardo and V Calbi and A A Assanelli and M Facchini and C Fossati and E Albertazzi and S Scaramuzza and I Brigida and S Scala and L Basso-Ricci and R Pajno and M Casiraghi and D Canarutto and F A Salerio and M H Albert and A Bartoli and H M Wolf and R Fiori and P Silvani and S Gattillo and A Villa and L Biasco and C Dott and E J Culme-Seymour and K van Rossem and G Atkinson and M G Valsecchi and M G Roncarolo and F Ciceri and L Naldini and A Aiuti},

year  = {2019},

date = {2019-05-01},

journal = {Lancet Haematol},

volume = {6},

number = {5},

pages = {e239-e253},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30845912,

title = {RhoTermPredict: an algorithm for predicting Rho-dependent transcription terminators based on Escherichia coli, Bacillus subtilis and Salmonella enterica databases},

author = {Marco Di Salvo and Simone Puccio and Clelia Peano and Stephan Lacour and Pietro Alifano},

doi = {10.1186/s12859-019-2704-x},

issn = {1471-2105},

year  = {2019},

date = {2019-03-01},

journal = {BMC Bioinformatics},

volume = {20},

number = {1},

pages = {117},

abstract = {BACKGROUND: In bacterial genomes, there are two mechanisms to terminate the DNA transcription: the "intrinsic" or Rho-independent termination and the Rho-dependent termination. Intrinsic terminators are characterized by a RNA hairpin followed by a run of 6-8 U residues relatively easy to identify using one of the numerous available prediction programs. In contrast, Rho-dependent termination is mediated by the Rho protein factor that, firstly, binds to ribosome-free mRNA in a site characterized by a C > G content and then reaches the RNA polymerase to induce its release. Conversely on intrinsic terminators, the computational prediction of Rho-dependent terminators in prokaryotes is a very difficult problem because the sequence features required for the function of Rho are complex and poorly defined. This is the reason why it still does not exist an exhaustive Rho-dependent terminators prediction program.nnRESULTS: In this study we introduce RhoTermPredict, the first published algorithm for an exhaustive Rho-dependent terminators prediction in bacterial genomes. RhoTermPredict identifies these elements based on a previously proposed consensus motif common to all Rho-dependent transcription terminators. It essentially searches for a 78 nt long RUT site characterized by a C > G content and with regularly spaced C residues, followed by a putative pause site for the RNA polymerase. We tested RhoTermPredict performances by using available genomic and transcriptomic data of the microorganism Escherichia coli K-12, both in limited-length sequences and in the whole-genome, and available genomic sequences from Bacillus subtilis 168 and Salmonella enterica LT2 genomes. We also estimated the overlap between the predictions of RhoTermPredict and those obtained by the predictor of intrinsic terminators ARNold webtool. Our results demonstrated that RhoTermPredict is a very performing algorithm both for limited-length sequences (F-score obtained about 0.7) and for a genome-wide analysis. Furthermore the degree of overlap with ARNold predictions was very low.nnCONCLUSIONS: Our analysis shows that RhoTermPredict is a powerful tool for Rho-dependent terminators search in the three analyzed genomes and could fill this gap in computational genomics. We conclude that RhoTermPredict could be used in combination with an intrinsic terminators predictor in order to predict all the transcription terminators in bacterial genomes.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30823889,

title = {Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development},

author = {P Sarogni and O Palumbo and A Servadio and S Astigiano and B DÁlessio and V Gatti and D Cukrov and S Baldari and M M Pallotta and P Aretini and F DellÓrletta and S Soddu and M Carella and G Toietta and O Barbieri and G Fontanini and A Musio},

year  = {2019},

date = {2019-03-01},

journal = {J Exp Clin Cancer Res},

volume = {38},

number = {1},

pages = {108},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30979712,

title = {miR-181a/b downregulation exerts a protective action on mitochondrial disease models},

author = {A Indrieri and S Carrella and A Romano and A Spaziano and E Marrocco and E Fernandez-Vizarra and S Barbato and M Pizzo and Y Ezhova and F M Golia and L Ciampi and R Tammaro and J Henao-Mejia and A Williams and R A Flavell and E De Leonibus and M Zeviani and E M Surace and S Banfi and B Franco},

year  = {2019},

date = {2019-01-01},

journal = {EMBO Mol Med},

volume = {11},

number = {5},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30565244,

title = {RAG gene defects at the verge of immunodeficiency and immune dysregulation},

author = {A Villa and L D Notarangelo},

year  = {2019},

date = {2019-01-01},

journal = {Immunol Rev},

volume = {287},

number = {1},

pages = {73--90},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31699974,

title = {p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway},

author = {C Contadini and L Monteonofrio and I Virdia and A Prodosmo and D Valente and L Chessa and A Musio and L L Fava and C Rinaldo and G Di Rocco and S Soddu},

year  = {2019},

date = {2019-01-01},

journal = {Cell Death Dis},

volume = {10},

number = {11},

pages = {850},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30184340,

title = {Mesenchymal Stromal Cell-Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl-Đeficient Osteopetrosis},

author = {C Menale and E Campodoni and E Palagano and S Mantero and M Erreni and A Inforzato and E Fontana and F Schena and R Van't Hof and M Sandri and A Tampieri and A Villa and C Sobacchi},

year  = {2019},

date = {2019-01-01},

journal = {Stem Cells Transl Med},

volume = {8},

number = {1},

pages = {22--34},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31295380,

title = {Absence of Đipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss},

author = {C Menale and L J Robinson and E Palagano and R Rigoni and M Erreni and A J Almarza and D Strina and S Mantero and M Lizier and A Forlino and R Besio and M Monari and P Vezzoni and B Cassani and H C Blair and A Villa and C Sobacchi},

year  = {2019},

date = {2019-01-01},

journal = {J Bone Miner Res},

volume = {34},

number = {11},

pages = {2133--2148},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30314999,

title = {Phosphoinositides in the kidney},

author = {L Staiano and M A De Matteis},

year  = {2019},

date = {2019-01-01},

journal = {J Lipid Res},

volume = {60},

number = {2},

pages = {287--298},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30559329,

title = {A selective ER-phagy exerts procollagen quality control via a Calnexin-FAM134B complex},

author = {A Forrester and C De Leonibus and P Grumati and E Fasana and M Piemontese and L Staiano and I Fregno and A Raimondi and A Marazza and G Bruno and M Iavazzo and D Intartaglia and M Seczynska and E van Anken and I Conte and M A De Matteis and I Dikic and M Molinari and C Settembre},

year  = {2019},

date = {2019-01-01},

journal = {EMBO J},

volume = {38},

number = {2},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30590522,

title = {OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Đent disease},

author = {B P Festa and M Berquez and A Gassama and I Amrein and H M Ismail and M Samardzija and L Staiano and A Luciani and C Grimm and R L Nussbaum and M A De Matteis and O M Dorchies and L Scapozza and D P Wolfer and O Devuyst},

year  = {2019},

date = {2019-01-01},

journal = {Hum Mol Genet},

volume = {28},

number = {12},

pages = {1931--1946},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31603532,

title = {Ħijacking intracellular membranes to feed autophagosomal growth},

author = {L Staiano and F Zappa},

year  = {2019},

date = {2019-01-01},

journal = {FEBS Lett},

volume = {593},

number = {22},

pages = {3120--3134},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30895693,

title = {Chromosome Ŧransplantation: Correction of the Chronic Granulomatous Đisease Đefect in Mouse Induced Pluripotent Stem Cells},

author = {A Castelli and L Susani and C Menale and S Muggeo and E Caldana and D Strina and B Cassani and C Recordati and E Scanziani and F Ficara and A Villa and P Vezzoni and M Paulis},

year  = {2019},

date = {2019-01-01},

journal = {Stem Cells},

volume = {37},

number = {7},

pages = {876--887},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30471417,

title = {Motor neuron degeneration, severe myopathy and ŦĐP-43 increase in a transgenic pig model of SOĐ1-linked familiar ALS},

author = {P Crociara and M N Chieppa and E Vallino Costassa and E Berrone and M Gallo and M Lo Faro and M D Pintore and B Iulini and A DÁngelo and G Perona and A Botter and D Formicola and A Rainoldi and M Paulis and P Vezzoni and F Meli and F A Peverali and C Bendotti and M C Trolese and L Pasetto and V Bonetto and G Lazzari and R Duchi and A Perota and I Lagutina and C Quadalti and M S Gennero and D Dezzutto and R Desiato and M Boido and M Ghibaudi and M C Valentini and M Caramelli and C Galli and C Casalone and C Corona},

year  = {2019},

date = {2019-01-01},

journal = {Neurobiol Dis},

volume = {124},

pages = {263--275},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30926529,

title = {Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome},

author = {L Sereni and M C Castiello and D Di Silvestre and P Della Valle and C Brombin and F Ferrua and M P Cicalese and L Pozzi and M Migliavacca and M E Bernardo and C Pignata and R Farah and L D Notarangelo and N Marcus and L Cattaneo and M Spinelli and S Giannelli and M Bosticardo and K van Rossem and A DÁngelo and A Aiuti and P Mauri and A Villa},

year  = {2019},

date = {2019-01-01},

journal = {J Allergy Clin Immunol},

volume = {144},

number = {3},

pages = {825--838},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30792210,

title = {MicroRNA-127-3p controls murine hematopoietic stem cell maintenance by limiting differentiation},

author = {L Crisafulli and S Muggeo and P Uva and Y Wang and M Iwasaki and S Locatelli and A Anselmo and F S Colombo and C Carlo-Stella and M L Cleary and A Villa and B Gentner and F Ficara},

year  = {2019},

date = {2019-01-01},

journal = {Haematologica},

volume = {104},

number = {9},

pages = {1744--1755},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31740485,

title = {CXCR3 Identifies Ħuman Naive CĐ8+ Ŧ Cells with Enhanced Effector Đifferentiation Potential},

author = {G De Simone and E M C Mazza and A Cassotta and A N Davydov and M Kuka and V Zanon and F De Paoli and E Scamardella and M Metsger and A Roberto and K Pilipow and F S Colombo and E Tenedini and E Tagliafico and L Gattinoni and D Mavilio and C Peano and D A Price and S P Singh and J M Farber and V Serra and F Cucca and F Ferrari and V Orrù and E Fiorillo and M Iannacone and D M Chudakov and F Sallusto and E Lugli},

year  = {2019},

date = {2019-01-01},

journal = {J Immunol},

volume = {203},

number = {12},

pages = {3179--3189},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31257026,

title = {Neutrophils Đriving Unconventional Ŧ Cells Mediate Resistance against Murine Sarcomas and Selected Ħuman Ŧumors},

author = {A Ponzetta and R Carriero and S Carnevale and M Barbagallo and M Molgora and C Perucchini and E Magrini and F Gianni and P Kunderfranco and N Polentarutti and F Pasqualini and S Di Marco and D Supino and C Peano and F Cananzi and P Colombo and S Pilotti and S Y Alomar and E Bonavita and M R Galdiero and C Garlanda and A Mantovani and S Jaillon},

year  = {2019},

date = {2019-01-01},

journal = {Cell},

volume = {178},

number = {2},

pages = {346--360},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31661975,

title = {Single-Cell Sequencing of Mouse Ħeart Immune Infiltrate in Pressure Overload-Đriven Ħeart Failure Reveals Extent of Immune Activation},

author = {E Martini and P Kunderfranco and C Peano and P Carullo and M Cremonesi and T Schorn and R Carriero and A Termanini and F S Colombo and E Jachetti and C Panico and G Faggian and A Fumero and L Torracca and M Molgora and J Cibella and C Pagiatakis and J Brummelman and G Alvisi and E M C Mazza and M P Colombo and E Lugli and G Condorelli and M Kallikourdis},

year  = {2019},

date = {2019-01-01},

journal = {Circulation},

volume = {140},

number = {25},

pages = {2089--2107},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30902910,

title = {Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis},

author = {E Di Pasquale and G Condorelli},

year  = {2019},

date = {2019-01-01},

journal = {EMBO Mol Med},

volume = {11},

number = {4},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31249372,

title = {Wnt signalling mediates miR-133a nuclear re-localization for the transcriptional control of Đnmt3b in cardiac cells},

author = {V Di Mauro and S Crasto and F S Colombo and E Di Pasquale and D Catalucci},

year  = {2019},

date = {2019-01-01},

journal = {Sci Rep},

volume = {9},

number = {1},

pages = {9320},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31680489,

title = {Đisease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy},

author = {M Prondzynski and M D Lemoine and A T Zech and A Horváth and V Di Mauro and J T Koivumäki and N Kresin and J Busch and T Krause and E Krämer and S Schlossarek and M Spohn and F W Friedrich and J Münch and S D Laufer and C Redwood and A E Volk and A Hansen and G Mearini and D Catalucci and C Meyer and T Christ and M Patten and T Eschenhagen and L Carrier},

year  = {2019},

date = {2019-01-01},

journal = {EMBO Mol Med},

volume = {11},

number = {12},

pages = {e11115},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31118417,

title = {Ŧhe K219Ŧ-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy},

author = {N Salvarani and S Crasto and M Miragoli and A Bertero and M Paulis and P Kunderfranco and S Serio and A Forni and C Lucarelli and M Dal Ferro and V Larcher and G Sinagra and P Vezzoni and C E Murry and G Faggian and G Condorelli and E Di Pasquale},

year  = {2019},

date = {2019-01-01},

journal = {Nat Commun},

volume = {10},

number = {1},

pages = {2267},

keywords = {},

pubstate = {published},

tppubtype = {article}

}