@article{pmid33274847,

title = {Synthesis of Hydroxylated Biphenyls Derivatives Bearing an α,β-Unsaturated Ketone as Lead Structure for the Development of New Drug Candidates Against Malignant Melanoma},

author = {Maria Antonietta Dettori and Davide Fabbri and Marina Pisano and Carla Rozzo and Giovanna Delogu },

url = {https://irgb.cnr.it/wp-content/uploads/2024/05/reprint-1.pdf},

doi = {doi.org/10.1002/cmdc.202000709},

year  = {2021},

date = {2021-01-21},

urldate = {2021-01-21},

journal = {ChemMedChem},

volume = {16},

pages = {1022-1033},

abstract = {A small collection of C 2 -symmetry hydroxylated biphenyls derivatives featured with a α,β-unsaturated ketone as lead structure was prepared and the capability of such compounds to act as antiproliferative agents against four human malignant melanoma cell lines was assayed. The prodrug approach was applied in order to improve delivery of compounds into the cell by modulation of the phenolic-OH protective group. The hydroxylated biphenyl structure bearing an α,β-unsaturated ketone and a phenolic- O -prenylated chain would facilitated the delivery of the molecule and interactions with the biological targets. Four compounds showed antiproliferative activity resulting in IC 50 value in the range 1.2 - 2.8 µM..},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Mingoia2021-hv,

title = {Induction of therapeutic levels of HbF in genome-edited 

 primary $beta$0 39-thalassaemia haematopoietic stem and 

 progenitor cells},

author = {Maura Mingoia and Cristian A Caria and Lin Ye and Isadora Asunis and M Franca Marongiu and Laura Manunza and M Carla Sollaino and Jiaming Wang and Annalisa Cabriolu and Ryo Kurita and Yukio Nakamura and Francesco Cucca and Yuet W Kan and M Giuseppina Marini and Paolo Moi},

year  = {2021},

date = {2021-01-01},

journal = {Br. J. Haematol.},

volume = {192},

number = {2},

pages = {395--404},

publisher = {Wiley},

abstract = {Hereditary persistence of fetal haemoglobin (HPFH) is the major 

 modifier of the clinical severity of $beta$-thalassaemia. The 

 homozygous mutation c.-196 C>T in the A$gamma$-globin (HBG1) 

 promoter, which causes Sardinian $delta$$beta$0 -thalassaemia, 

 is able to completely rescue the $beta$-major thalassaemia 

 phenotype caused by the $beta$0 39-thalassaemia mutation, 

 ensuring high levels of fetal haemoglobin synthesis during 

 adulthood. Here, we describe a CRISPR/Cas9 genome-editing 

 approach, combined with the non-homologous end joining (NHEJ) 

 pathway repair, aimed at reproducing the effects of this 

 naturally occurring HPFH mutation in both HBG promoters. After 

 selecting the most efficient guide RNA in K562 cells, we edited 

 the HBG promoters in human umbilical cord blood-derived 

 erythroid progenitor 2 cells (HUDEP-2) and in haematopoietic 

 stem and progenitor cells (HSPCs) from $beta$0 -thalassaemia 

 patients to assess the therapeutic potential of HbF induction. 

 Our results indicate that small deletions targeting the 

 -196-promoter region restore high levels of fetal haemoglobin 

 (HbF) synthesis in all cell types tested. In pools of HSPCs 

 derived from homozygous $beta$0 39-thalassaemia patients, a 

 20% editing determined a parallel 20% increase of HbF compared 

 to unedited pools. These results suggest that editing the region 

 of HBG promoters around the -196 position has the potential to 

 induce therapeutic levels of HbF in patients with most types of 

 $beta$-thalassaemia irrespective of the $beta$-globin gene 

 (HBB) mutations.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31949009,

title = {Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of ŦCIRG1 osteopetrosis},

author = {V Capo and S Penna and I Merelli and M Barcella and S Scala and L Basso-Ricci and E Draghici and E Palagano and E Zonari and G Desantis and P Uva and R Cusano and L Sergi Sergi and L Crisafulli and D Moshous and P Stepensky and K Drabko and Z Kaya and E Unal and A Gezdirici and G Menna and M Serafini and A Aiuti and S L Locatelli and C Carlo-Stella and A S Schulz and F Ficara and C Sobacchi and B Gentner and A Villa},

year  = {2021},

date = {2021-01-01},

journal = {Haematologica},

volume = {106},

number = {1},

pages = {74--86},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32387109,

title = {Efficacy and safety of anti-CD45-saporin as conditioning agent for RAG deficiency},

author = {M C Castiello and M Bosticardo and N Sacchetti and E Calzoni and E Fontana and Y Yamazaki and E Draghici and C Corsino and I Bortolomai and L Sereni and H H Yu and P Uva and R Palchaudhuri and D T Scadden and A Villa and L D Notarangelo},

year  = {2021},

date = {2021-01-01},

journal = {J Allergy Clin Immunol},

volume = {147},

number = {1},

pages = {309--320},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33494335,

title = {Gut Microbiota Functional Đysbiosis Relates to Individual Điet in Subclinical Carotid Atherosclerosis},

author = {A Baragetti and M Severgnini and E Olmastroni and C C Dioguardi and E Mattavelli and A Angius and L Rotta and J Cibella and G Caredda and C Consolandi and L Grigore and F Pellegatta and F Giavarini and D Caruso and G D Norata and A L Catapano and C Peano},

year  = {2021},

date = {2021-01-01},

journal = {Nutrients},

volume = {13},

number = {2},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33208929,

title = {Macrophage expression and prognostic significance of the long pentraxin PŦX3 in COVIĐ-19},

author = {E Brunetta and M Folci and B Bottazzi and M De Santis and G Gritti and A Protti and S N Mapelli and S Bonovas and D Piovani and R Leone and I My and V Zanon and G Spata and M Bacci and D Supino and S Carnevale and M Sironi and S Davoudian and C Peano and F Landi and F Di Marco and F Raimondi and A Gianatti and C Angelini and A Rambaldi and C Garlanda and M Ciccarelli and M Cecconi and A Mantovani},

year  = {2021},

date = {2021-01-01},

journal = {Nat Immunol},

volume = {22},

number = {1},

pages = {19--24},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33216968,

title = {Induction of therapeutic levels of HbF in genome-edited primary β0 39-thalassaemia haematopoietic stem and progenitor cells},

author = {M Mingoia and C A Caria and L Ye and I Asunis and M F Marongiu and L Manunza and M C Sollaino and J Wang and A Cabriolu and R Kurita and Y Nakamura and F Cucca and Y W Kan and M G Marini and P Moi},

year  = {2021},

date = {2021-01-01},

journal = {Br J Haematol},

volume = {192},

number = {2},

pages = {395--404},

abstract = {Hereditary persistence of fetal haemoglobin (HPFH) is the major modifier of the clinical severity of β-thalassaemia. The homozygous mutation c.-196 C>T in the Aγ-globin (HBG1) promoter, which causes Sardinian δβ0 -thalassaemia, is able to completely rescue the β-major thalassaemia phenotype caused by the β0 39-thalassaemia mutation, ensuring high levels of fetal haemoglobin synthesis during adulthood. Here, we describe a CRISPR/Cas9 genome-editing approach, combined with the non-homologous end joining (NHEJ) pathway repair, aimed at reproducing the effects of this naturally occurring HPFH mutation in both HBG promoters. After selecting the most efficient guide RNA in K562 cells, we edited the HBG promoters in human umbilical cord blood-derived erythroid progenitor 2 cells (HUDEP-2) and in haematopoietic stem and progenitor cells (HSPCs) from β0 -thalassaemia patients to assess the therapeutic potential of HbF induction. Our results indicate that small deletions targeting the -196-promoter region restore high levels of fetal haemoglobin (HbF) synthesis in all cell types tested. In pools of HSPCs derived from homozygous β0 39-thalassaemia patients, a 20% editing determined a parallel 20% increase of HbF compared to unedited pools. These results suggest that editing the region of HBG promoters around the -196 position has the potential to induce therapeutic levels of HbF in patients with most types of β-thalassaemia irrespective of the β-globin gene (HBB) mutations.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33046887b,

title = {Two subsets of stem-like CD8 memory T cell progenitors with distinct fate commitments in humans},

author = {Giovanni Galletti and Gabriele De Simone and Emilia M C Mazza and Simone Puccio and Claudia Mezzanotte and Timothy M Bi and Alexey N Davydov and Maria Metsger and Eloise Scamardella and Giorgia Alvisi and Federica De Paoli and Veronica Zanon and Alice Scarpa and Barbara Camisa and Federico S Colombo and Achille Anselmo and Clelia Peano and Sara Polletti and Domenico Mavilio and Luca Gattinoni and Shannon K Boi and Benjamin A Youngblood and Rhiannon E Jones and Duncan M Baird and Emma Gostick and Sian Llewellyn-Lacey and Kristin Ladell and David A Price and Dmitriy M Chudakov and Evan W Newell and Monica Casucci and Enrico Lugli},

doi = {10.1038/s41590-020-0791-5},

issn = {1529-2916},

year  = {2020},

date = {2020-12-01},

journal = {Nat Immunol},

volume = {21},

number = {12},

pages = {1552--1562},

abstract = {T cell memory relies on the generation of antigen-specific progenitors with stem-like properties. However, the identity of these progenitors has remained unclear, precluding a full understanding of the differentiation trajectories that underpin the heterogeneity of antigen-experienced T cells. We used a systematic approach guided by single-cell RNA-sequencing data to map the organizational structure of the human CD8 memory T cell pool under physiological conditions. We identified two previously unrecognized subsets of clonally, epigenetically, functionally, phenotypically and transcriptionally distinct stem-like CD8 memory T cells. Progenitors lacking the inhibitory receptors programmed death-1 (PD-1) and T cell immunoreceptor with Ig and ITIM domains (TIGIT) were committed to a functional lineage, whereas progenitors expressing PD-1 and TIGIT were committed to a dysfunctional, exhausted-like lineage. Collectively, these data reveal the existence of parallel differentiation programs in the human CD8 memory T cell pool, with potentially broad implications for the development of immunotherapies and vaccines.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33125266,

title = {Comprehensive Investigation of Circulating Biomarkers and Ŧheir Causal Role in Atherosclerosis-Related Risk Factors and Clinical Events},

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

year  = {2020},

date = {2020-12-01},

journal = {Circ Genom Precis Med},

volume = {13},

number = {6},

pages = {e002996},

abstract = {Circulating biomarkers have been previously associated with atherosclerosis-related risk factors, but the nature of these associations is incompletely understood. 933 participants of the UK Biobank. ). Our results suggest that it is unlikely that CRP (C-reactive protein) and vitamin D play causal roles of any meaningful magnitude in development of cardiometabolic disease. We confirmed and extended known associations and reported several novel causal associations providing important insights about the cause of these diseases, which can help accelerate new prevention strategies.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32311393,

title = {Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome},

author = {R Rigoni and E Fontana and K Dobbs and V Marrella and V Taverniti and V Maina and A Facoetti and G DÁmico and W Al-Herz and M E Cruz-Munoz and C Schuetz and A R Gennery and E K Garabedian and S Giliani and D Draper and G Dbaibo and R S Geha and I Meyts and T Tousseyn and B Neven and D Moshous and A Fischer and A Schulz and A Finocchi and D B Kuhns and D L Fink and M S Lionakis and M Swamydas and S Guglielmetti and J Alejo and I A Myles and S Pittaluga and L D Notarangelo and A Villa and B Cassani},

year  = {2020},

date = {2020-11-01},

journal = {J Allergy Clin Immunol},

volume = {146},

number = {5},

pages = {1165--1179},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32785653,

title = {Macrophage morphology correlates with single-cell diversity and prognosis in colorectal liver metastasis},

author = {M Donadon and G Torzilli and N Cortese and C Soldani and L Di Tommaso and B Franceschini and R Carriero and M Barbagallo and A Rigamonti and A Anselmo and F S Colombo and G Maggi and A Lleo and J Cibella and C Peano and P Kunderfranco and M Roncalli and A Mantovani and F Marchesi},

year  = {2020},

date = {2020-11-01},

journal = {J Exp Med},

volume = {217},

number = {11},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33171872,

title = {Modulatory Role of microRNAs in Triple Negative Breast Cancer with Basal-Like Phenotype},

author = { },

year  = {2020},

date = {2020-11-01},

journal = {Cancers (Basel)},

volume = {12},

number = {11},

abstract = {Development of new research, classification, and therapeutic options are urgently required due to the fact that TNBC is a heterogeneous malignancy. The expression of high molecular weight cytokeratins identifies a biologically and clinically distinct subgroup of TNBCs with a basal-like phenotype, representing about 75% of TNBCs, while the remaining 25% includes all other intrinsic subtypes. The triple negative phenotype in basal-like breast cancer (BLBC) makes it unresponsive to endocrine therapy, i.e., tamoxifen, aromatase inhibitors, and/or anti-HER2-targeted therapies; for this reason, only chemotherapy can be considered an approach available for systemic treatment even if it shows poor prognosis. Therefore, treatment for these subgroups of patients is a strong challenge for oncologists due to disease heterogeneity and the absence of unambiguous molecular targets. Dysregulation of the cellular miRNAome has been related to huge cellular process deregulations underlying human malignancy. Consequently, epigenetics is a field of great promise in cancer research. Increasing evidence suggests that specific miRNA clusters/signatures might be of clinical utility in TNBCs with basal-like phenotype. The epigenetic mechanisms behind tumorigenesis enable progress in the treatment, diagnosis, and prevention of cancer. This review intends to summarize the epigenetic findings related to miRNAome in TNBCs with basal-like phenotype.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33216977,

title = {A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia},

author = { F. Busonero and M. Steri and V. Orrù and G. Sole and S. Olla and M. Marongiu and A. Maschio and C. Sidore and S. Lai and A. Mulas and M. Zoledziewska and M. Floris and M. Pala and P. Forabosco and I. Asunis and M. Pitzalis and F. Deidda and M. Masala and C. A. Caria and S. Barella and G. R. Abecasis and D. Schlessinger and S. Sanna and E. Fiorillo and F. Cucca},

year  = {2020},

date = {2020-11-01},

journal = {Br J Haematol},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Orru2020-uk,

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

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

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

year  = {2020},

date = {2020-10-01},

urldate = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{Orru2020-ce,

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

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

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

year  = {2020},

date = {2020-10-01},

urldate = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{Orru2020-vad,

title = {Complex genetic signatures in immune cells underlie autoimmunity 

 and inform therapy},

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

year  = {2020},

date = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{Orru2020-vac,

title = {Complex genetic signatures in immune cells underlie autoimmunity 

 and inform therapy},

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

year  = {2020},

date = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{Orru2020-vab,

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

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

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

year  = {2020},

date = {2020-10-01},

urldate = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{Orru2020-va,

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

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

url = {https://www.nature.com/articles/s41588-020-0684-4},

year  = {2020},

date = {2020-10-01},

urldate = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{Orru2020-mz,

title = {Complex genetic signatures in immune cells underlie autoimmunity 

 and inform therapy},

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

year  = {2020},

date = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{Orru2020-ku,

title = {Complex genetic signatures in immune cells underlie autoimmunity 

 and inform therapy},

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

year  = {2020},

date = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{Orru2020-xo,

title = {Complex genetic signatures in immune cells underlie autoimmunity 

 and inform therapy},

author = {Valeria Örr`u and Maristella Steri and Carlo Sidore and Michele Marongiu and Valentina Serra and Stefania Olla and Gabriella Sole and Sandra Lai and Mariano Dei and Antonella Mulas and Francesca Virdis and Maria Grazia Piras and Monia Lobina and Mara Marongiu and Maristella Pitzalis and Francesca Deidda and Annalisa Loizedda and Stefano Onano and Magdalena Zoledziewska and Stephen Sawcer and Marcella Devoto and Myriam Gorospe and Gonc calo R Abecasis and Matteo Floris and Mauro Pala and David Schlessinger and Edoardo Fiorillo and Francesco" Cucca},

year  = {2020},

date = {2020-10-01},

journal = {Nat. Genet.},

volume = {52},

number = {10},

pages = {1036--1045},

publisher = {Springer Science and Business Media LLC},

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 $times$ 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{pmid32978159,

title = {GAĐĐ34 is a modulator of autophagy during starvation},

author = {G Gambardella and L Staiano and M N Moretti and R De Cegli and L Fagnocchi and G Di Tullio and S Polletti and C Braccia and A Armirotti and A Zippo and A Ballabio and M A De Matteis and D di Bernardo},

year  = {2020},

date = {2020-09-01},

journal = {Sci Adv},

volume = {6},

number = {39},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33201769,

title = {Paracrine effect of human adipose-derived stem cells on lymphatic endothelial cells},

author = {C Marcozzi and A Frattini and M Borgese and F Rossi and L Barone and E Solari and R Valli and R Gornati},

year  = {2020},

date = {2020-09-01},

journal = {Regen Med},

volume = {15},

number = {9},

pages = {2085--2098},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32402076b,

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

author = {Simone Puccio and Giorgio Grillo and Arianna Consiglio and Maria Felicia Soluri and Daniele Sblattero and Diego Cotella and Claudio Santoro and Sabino Liuni and Gianluca De Bellis and Enrico Lugli and Clelia Peano and Flavio Licciulli},

doi = {10.1093/nar/gkaa363},

issn = {1362-4962},

year  = {2020},

date = {2020-07-01},

journal = {Nucleic Acids Res},

volume = {48},

number = {W1},

pages = {W200--W207},

abstract = {High-Throughput Sequencing technologies are transforming many research fields, including the analysis of phage display libraries. The phage display technology coupled with deep sequencing was introduced more than a decade ago and holds the potential to circumvent the traditional laborious picking and testing of individual phage rescued clones. However, from a bioinformatics point of view, the analysis of this kind of data was always performed by adapting tools designed for other purposes, thus not considering the noise background typical of the 'interactome sequencing' approach and the heterogeneity of the data. InteractomeSeq is a web server allowing data analysis of protein domains ('domainome') or epitopes ('epitome') from either Eukaryotic or Prokaryotic genomic phage libraries generated and selected by following an Interactome sequencing approach. InteractomeSeq allows users to upload raw sequencing data and to obtain an accurate characterization of domainome/epitome profiles after setting the parameters required to tune the analysis. The release of this tool is relevant for the scientific and clinical community, because InteractomeSeq will fill an existing gap in the field of large-scale biomarkers profiling, reverse vaccinology, and structural/functional studies, thus contributing essential information for gene annotation or antigen identification. InteractomeSeq is freely available at https://InteractomeSeq.ba.itb.cnr.it/.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32751423,

title = {Comparison of BRAF Mutation Screening Strategies in a Large Real-Life Series of Advanced Melanoma Patients},

author = {Colombino, M. and Rozzo, C. and Paliogiannis, P. and Casula, M. and Manca, A. and Doneddu, V. and Fedeli, M. A. and Sini, M. C. and Palomba, G. and Pisano, M. and Ascierto, P. A. and Caracò, C. and Lissia, A. and Cossu, A. and Palmieri, G.},

year  = {2020},

date = {2020-07-01},

urldate = {2020-07-01},

journal = {J Clin Med},

volume = {9},

number = {8},

abstract = {Malignant melanoma (MM) is one of the deadliest skin cancers. BRAF mutation status plays a predominant role in the management of MM patients. The aim of this study was to compare BRAF mutational testing performed by conventional nucleotide sequencing approaches with either real-time polymerase chain reaction (rtPCR) or next-generation sequencing (NGS) assays in a real-life, hospital-based series of advanced MM patients. Consecutive patients with AJCC (American Joint Committee on Cancer) stage IIIC and IV MM from Sardinia, Italy, who were referred for molecular testing, were enrolled into the study. Initial screening was performed to assess the mutational status of the BRAF and NRAS genes, using the conventional methodologies recognized by the nationwide guidelines, at the time of the molecular classification, required by clinicians: at the beginning, Sanger-based sequencing (SS) and, after, pyrosequencing. The present study was then focused on BRAF mutation detecting approaches only. BRAF wild-type cases with available tissue and adequate DNA were further tested with rtPCR (Idyllaâ„¢) and NGS assays. Globally, 319 patients were included in the study; pathogenic BRAF mutations were found in 144 (45.1%) cases examined with initial screening. The rtPCR detected 11 (16.2%) and 3 (4.8%) additional BRAF mutations after SS and pyrosequencing, respectively. NGS detected one additional BRAF-mutated case (2.1%) among 48 wild-type cases previously tested with pyrosequencing and rtPCR. Our study evidenced that rtPCR and NGS were able to detect additional BRAF mutant cases in comparison with conventional sequencing methods; therefore, we argue for the preferential utilization of the aforementioned assays (NGS and rtPCR) in clinical practice, to eradicate false-negative cases and improve the accuracy of BRAF detection.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32125291b,

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

author = {Giorgia Alvisi and Jolanda Brummelman and Simone Puccio and Emilia Mc Mazza and Elisa Paoluzzi Tomada and Agnese Losurdo and Veronica Zanon and Clelia Peano and Federico S Colombo and Alice Scarpa and Marco Alloisio and Ajithkumar Vasanthakumar and Rahul Roychoudhuri and Marinos Kallikourdis and Massimiliano Pagani and Egesta Lopci and Pierluigi Novellis and Jonas Blume and Axel Kallies and Giulia Veronesi and Enrico Lugli},

doi = {10.1172/JCI130426},

issn = {1558-8238},

year  = {2020},

date = {2020-06-01},

journal = {J Clin Invest},

volume = {130},

number = {6},

pages = {3137--3150},

abstract = {The molecular mechanisms responsible for the high immunosuppressive capacity of CD4+ Tregs in tumors are not well known. High-dimensional single-cell profiling of T cells from chemotherapy-naive individuals with non-small-cell lung cancer identified the transcription factor IRF4 as specifically expressed by a subset of intratumoral CD4+ effector Tregs with superior suppressive activity. In contrast to the IRF4- counterparts, IRF4+ Tregs expressed a vast array of suppressive molecules, and their presence correlated with multiple exhausted subpopulations of T cells. Integration of transcriptomic and epigenomic data revealed that IRF4, either alone or in combination with its partner BATF, directly controlled a molecular program responsible for immunosuppression in tumors. Accordingly, deletion of Irf4 exclusively in Tregs resulted in delayed tumor growth in mice while the abundance of IRF4+ Tregs correlated with poor prognosis in patients with multiple human cancers. Thus, a common mechanism underlies immunosuppression in the tumor microenvironment irrespective of the tumor type.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32099849,

title = {Chromosome Ŧransplantation: A Possible Approach to Ŧreat Ħuman X-linked Đisorders},

author = {M Paulis and L Susani and A Castelli and T Suzuki and T Hara and L Straniero and S Duga and D Strina and S Mantero and E Caldana and L S Sergi and A Villa and P Vezzoni},

year  = {2020},

date = {2020-06-01},

journal = {Mol Ther Methods Clin Dev},

volume = {17},

pages = {369--377},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31938717,

title = {Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis},

author = {E Palagano and S Muggeo and L Crisafulli and I L Tourkova and D Strina and S Mantero and E Fontana and S L Locatelli and M Monari and E Morenghi and C Carlo-Stella and J B Barnett and H C Blair and P Vezzoni and A Villa and C Sobacchi and F Ficara},

year  = {2020},

date = {2020-06-01},

journal = {Bone Rep},

volume = {12},

pages = {100242},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31605138,

title = {Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene},

author = {M. Ävitabile and M. Succoio and A. Testori and A. Cardinale and Z. Vaksman and V. A. Lasorsa and S. Cantalupo and M. Esposito and F. Cimmino and A. Montella and D. Formicola and J. Koster and V. Andreotti and P. Ghiorzo and M. F. Romano and S. Staibano and M. Scalvenzi and F. Ayala and H. Hakonarson and M. V. Corrias and M. Devoto and M. H. Law and M. M. Iles and K. Brown and S. Diskin and N. Zambrano and A. Iolascon and M. Capasso},

year  = {2020},

date = {2020-05-01},

urldate = {2020-05-01},

journal = {Carcinogenesis},

volume = {41},

number = {3},

pages = {284--295},

abstract = {10-4 demonstrated enrichment of biological processes such as cell migration, cell cycle, metabolism and immune response, which are essential of human NCC development, underlying both tumors. In vitro and in silico analyses indicated that the rs2153977-T protective allele, located in an NB and CMM enhancer, decreased expression of SLC16A1 via long-range loop formation and altered a T-box protein binding site. Upon depletion of SLC16A1, we observed a decrease of cellular proliferation and invasion in both NB and CMM cell lines, suggesting its role as oncogene. This is the largest study to date examining pleiotropy across two NC cell-derived tumors identifying 1p13.2 as common susceptibility locus for NB and CMM risk. We demonstrate that combining genome-wide association studies results across cancers with same origins can identify new loci common to neuroblastoma and melanoma arising from tissues which originate from neural crest cells. Our results also show 1p13.2 confer risk to neuroblastoma and melanoma by regulating SLC16A1.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31302897,

title = {Arterial stiffness and multiple organ damage: a longitudinal study in population},

author = { A. Scuteri and C. H. Morrell and D. A. Fegatelli and E. Fiorillo and A. Delitala and M. Orru' and M. Marongiu and D. Schlessinger and F. Cucca},

year  = {2020},

date = {2020-05-01},

volume = {32},

number = {5},

pages = {781--788},

abstract = {Previous cross-sectional observation identified arterial aging, indexed as pulse-wave velocity (PWV), as a key determinant of the simultaneous multiple organ damage (heart, carotid artery, and kidney). The aim of the present cohort study is to investigate trajectories of repeated measures of PWV and traditional CV risk factors in subjects who eventually presented clinical evidence of multiple organ damage in the SardiNIA study. Organ damage was measured in the heart (left ventricular hypertrophy, LVH), the common carotid artery (intima-media thickness > 0.9 mm and/or plaque), and the kidney (eGFR < 60 ml/min/1.73 m2) of 2130 men and women of a broad age range participating the SardiNIA study. SHATS was defined as the simultaneous occurrence of all the three-organ damages. Trajectory in traditional CV risk factors and PWV was analyzed retrospectively (four observations over 9 years) according to the number of organ damage (from 0 to 3). Compared to subjects with no organ damage, after controlling for traditional CV risk factors, each 1 m/s increase in baseline PWV was accompanied by a 93% higher odds of developing SHATS; and each 1 cm/s (0.01 m/s) annual increase in PWV by a 31% greater odds of developing SHATS. Arterial stiffness, a proxy of arterial aging that can be measured clinically as PWV, is an integrated predictive marker of multiple age-associated organ damage recognized as clinical diseases.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32325986,

title = {Study of the Effects Induced by Ball Milling Treatment on Different Types of Hydrocolloids in a Corn Starch-Rice Flour System},

author = {Luca Nuvoli and Paola Conte and Sebastiano Garroni and Valeria Farina and Antonio Piga and Costantino Fadda},

doi = {10.3390/foods9040517},

issn = {2304-8158},

year  = {2020},

date = {2020-04-15},

journal = {Foods},

volume = {9},

number = {4},

abstract = {The effects of ball milling treatment on both the structure and properties of guar gum (GG), tara gum (TG), and methylcellulose (MC) were analyzed prior to assessing their potential interactions with starch components when they are used alone or in blends in a corn starch-rice flour system. X-ray diffraction profiles showed that the ball milling caused a reduction in the crystallin domain and, in turn, a diminished viscosity of the GG aqueous solutions. Despite an increase in its viscosity properties, effects on TG were minimal, while the milled MC exhibited reduced crystallinity, but similar viscosity. When both milled and un-milled hydrocolloids were individually added to the starch-flour system, the pasting properties of the resulting mixtures seemed to be affected by the type of hydrocolloid added rather than the structural changes induced by the treatment. All hydrocolloids increased the peak viscosity of the binary blends (especially pure GG), but only milled and un-milled MC showed values of setback and final viscosity similar to those of the individual starch. Ball milling seemed to be more effective when two combined hydrocolloids (milled GG and MC) were simultaneously used. No significant differences were observed in the viscoelastic properties of the blends, except for un-milled GG/starch, milled TG/starch, and milled MC/milled TG/starch gels.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32008434,

title = {Urinary Albumin, Sodium, and Potassium and Cardiovascular Outcomes in the UK Biobank: Observational and Mendelian Randomization Analyses},

author = {D. Zanetti and H. Bergman and S. Burgess and T. L. Assimes and V. Bhalla and E. Ingelsson},

year  = {2020},

date = {2020-03-01},

journal = {Hypertension},

volume = {75},

number = {3},

pages = {714--722},

abstract = {=0.02). Our comprehensive study of urinary biomarkers performed using state-of-the-art analyses of causality mirror and extend findings from randomized interventional trials which have established UNa/UK as a risk factor for hypertension. In addition, we detect a causal feedback loop between albumin and hypertension, and our finding of a bidirectional causal association between albumin and T2D reflects the well-known nephropathy in T2D.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32197476,

title = {Ŧhe Pervasive Role of the miR-181 Family in Đevelopment, Neurodegeneration, and Cancer},

author = {A Indrieri and S Carrella and P Carotenuto and S Banfi and B Franco},

year  = {2020},

date = {2020-03-01},

journal = {Int J Mol Sci},

volume = {21},

number = {6},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{Zhernakova2020-vk,

title = {Genome-wide sequence analyses of ethnic populations across 

 Russia},

author = {Daria V Zhernakova and Vladimir Brukhin and Sergey Malov and Taras K Oleksyk and Klaus Peter Koepfli and Anna Zhuk and Pavel Dobrynin and Sergei Kliver and Nikolay Cherkasov and Gaik Tamazian and Mikhail Rotkevich and Ksenia Krasheninnikova and Igor Evsyukov and Sviatoslav Sidorov and Anna Gorbunova and Ekaterina Chernyaeva and Andrey Shevchenko and Sofia Kolchanova and Alexei Komissarov and Serguei Simonov and Alexey Antonik and Anton Logachev and Dmitrii E Polev and Olga A Pavlova and Andrey S Glotov and Vladimir Ulantsev and Ekaterina Noskova and Tatyana K Davydova and Tatyana M Sivtseva and Svetlana Limborska and Oleg Balanovsky and Vladimir Osakovsky and Alexey Novozhilov and Valery Puzyrev and Stephen J O'Brien},

year  = {2020},

date = {2020-01-01},

journal = {Genomics},

volume = {112},

number = {1},

pages = {442--458},

publisher = {Elsevier BV},

abstract = {The Russian Federation is the largest and one of the most 

 ethnically diverse countries in the world, however no 

 centralized reference database of genetic variation exists to 

 date. Such data are crucial for medical genetics and essential 

 for studying population history. The Genome Russia Project aims 

 at filling this gap by performing whole genome sequencing and 

 analysis of peoples of the Russian Federation. Here we report 

 the characterization of genome-wide variation of 264 healthy 

 adults, including 60 newly sequenced samples. People of Russia 

 carry known and novel genetic variants of adaptive, clinical and 

 functional consequence that in many cases show allele frequency 

 divergence from neighboring populations. Population genetics 

 analyses revealed six phylogeographic partitions among 

 indigenous ethnicities corresponding to their geographic 

 locales. This study presents a characterization of 

 population-specific genomic variation in Russia with results 

 important for medical genetics and for understanding the dynamic 

 population history of the world's largest country.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33566725,

title = {PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity},

author = { C. Sidore and V. Orrù and E. Cocco and M. Steri and J. R. Inshaw and M. Pitzalis and A. Mulas and S. McGurnaghan and J. Frau and E. Porcu and F. Busonero and M. Dei and S. Lai and G. Sole and F. Virdis and V. Serra and F. Poddie and A. Delitala and M. Marongiu and F. Deidda and M. Pala and M. Floris and M. Masala and S. Onengut-Gumuscu and C. C. Robertson and L. Leoni and A. Frongia and M. R. Ricciardi and M. Chessa and N. Olla and M. Lovicu and A. Loizedda and A. Maschio and L. Mereu and P. Ferrigno and N. Curreli and L. Balaci and F. Loi and L. A. Ferreli and M. G. Pilia and A. Pani and M. G. Marrosu and G. R. Abecasis and S. S. Rich and H. Colhoun and J. A. Todd and D. Schlessinger and E. Fiorillo and F. Cucca and M. Zoledziewska},

year  = {2020},

date = {2020-01-01},

journal = {Mult Scler},

pages = {1352458520963937},

abstract = {Defective alleles within the PRF1 gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder characterized by massive release of cytokines-cytokine storm. The aim of this study was to determine the function of hypomorph PRF1:p.A91V g.72360387 G > A on multiple sclerosis (MS) and type 1 diabetes (T1D). We cross-compare the association data for PRF1:p.A91V mutation derived from GWAS on adult MS and pediatric T1D in Sardinians. The novel association with T1D was replicated in metanalysis in 12,584 cases and 17,692 controls from Sardinia, the United Kingdom, and Scotland. To dissect this mutation function, we searched through the coincident association immunophenotypes in additional set of general population Sardinians. We report that PRF1:p.A91V, is associated with increase of lymphocyte levels, especially within the cytotoxic memory T-cells, at general population level with reduced interleukin 7 receptor expression on these cells. The minor allele increased risk of MS, in 2903 cases and 2880 controls from Sardinia p = 2.06 × 10-4, odds ratio OR = 1.29, replicating a previous finding, whereas it protects from T1D p = 1.04 × 10-5},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid30169833b,

title = {Kidney size in relation to ageing, gender, renal function, birthweight and chronic kidney disease risk factors in a general population},

author = { D. Piras and M. Masala and A. Delitala and S. A. M. Urru and N. Curreli and L. Balaci and L. P. Ferreli and F. Loi and A. Atzeni and G. Cabiddu and W. Racugno and L. Ventura and M. Zoledziewska and M. Steri and E. Fiorillo and M. G. Pilia and D. Schlessinger and F. Cucca and A. D. Rule and A. Pani},

year  = {2020},

date = {2020-01-01},

journal = {Nephrol Dial Transplant},

volume = {35},

number = {4},

pages = {640--647},

abstract = {The relationship of kidney size to ageing, kidney function and kidney disease risk factors is not fully understood. Ultrasound length and parenchymal kidney volume were determined from a population-based sample of 3972 Sardinians (age range 18-100 years). We then identified the subset of 2256 'healthy' subjects to define age- and sex-specific reference ranges (2.5-97.5 percentile) of kidney volume. Logistic regression (accounting for family clustering) was used to identify the clinical characteristics associated with abnormally large kidneys or abnormally small kidneys. In the healthy subset, kidney volume and length increased up to the fourth to fifth decade of life followed by a progressive decrease in men, whereas there was a gradual kidney volume decrease throughout the lifespan of women. In the whole sample, independent predictors of lower kidney volume (<2.5 percentile for age and sex) were male sex, low body mass index, short height, low waist:hip ratio and high serum creatinine (SCr); the independent predictors of larger kidney volume (>97.5 percentile for age and sex) were younger age, female sex, diabetes, obesity, high height, high waist:hip ratio and lower SCr. Estimated heritability for kidney volume was 15%, and for length 27%; kidney volume correlated strongly with birthweight. Overall, in a general healthy population, kidney measures declined with age differently in men and women. The determinants of kidney parenchymal volume include genetic factors and modifiable clinical factors.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31884052,

title = {Impact of Stiffer Arteries on the Response to Antihypertensive Ŧreatment: A Longitudinal Study of the SardiNIA Cohort},

author = { E. G. Lakatta and D. AlunniFegatelli and C. H. Morrell and E. Fiorillo and M. Orru and A. Delitala and M. Marongiu and D. Schlessinger and F. Cucca and A. Scuteri},

year  = {2020},

date = {2020-01-01},

journal = {J Am Med Dir Assoc},

volume = {21},

number = {6},

pages = {720--725},

abstract = {Carotid-femoral pulse wave velocity (PWV), an index of arterial stiffness and a proxy of arterial aging, has been reported to be an independent determinant of cardiovascular health. Whether the effects of antihypertensive treatment vary in the presence of accelerated arterial aging (stiffer artery, ie, PWV >10 m/s) has not been established. We tested this hypothesis in a longitudinal study in a large community-dwelling population. Longitudinal population study with repeated measures. Study population consisted of a cohort of 6011 volunteers (2546 men and 3465 women, age range 14-101 years; 15,011 observations over a median follow-up of 6.8 years) participating in the SardiNIA Study. Repeated measures of PWV, blood pressure (BP), and metabolic risk factors and the antihypertensive medication trajectories of BP and PWV over time were assessed via mixed effects models. Antihypertensive treatment significantly affected the trajectory of BP in both participants with (-0.47 ± 0.20 mmHg/y},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32768688,

title = {Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency},

author = {M Ritelli and E Palagano and V Cinquina and F Beccagutti and N Chiarelli and D Strina and I F Hall and A Villa and C Sobacchi and M Colombi},

year  = {2020},

date = {2020-01-01},

journal = {Bone},

volume = {140},

pages = {115571},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31942628,

title = {Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency},

author = {O M Delmonte and A Villa and L D Notarangelo},

year  = {2020},

date = {2020-01-01},

journal = {Blood},

volume = {135},

number = {9},

pages = {610--619},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32556283,

title = {Artificial thymic organoids represent a reliable tool to study Ŧ-cell differentiation in patients with severe Ŧ-cell lymphopenia},

author = {M Bosticardo and F Pala and E Calzoni and O M Delmonte and K Dobbs and C L Gardner and N Sacchetti and T Kawai and E K Garabedian and D Draper and J R E Bergerson and S S DeRavin and A F Freeman and T Güngör and N Hartog and S M Holland and D B Kohn and H L Malech and M L Markert and K G Weinacht and A Villa and C S Seet and A Montel-Hagen and G M Crooks and L D Notarangelo},

year  = {2020},

date = {2020-01-01},

journal = {Blood Adv},

volume = {4},

number = {12},

pages = {2611--2616},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32541823,

title = {α-synuclein overexpression in the retina leads to vision impairment and degeneration of dopaminergic amacrine cells},

author = {E Marrocco and A Indrieri and F Esposito and V Tarallo and A Carboncino and F G Alvino and S De Falco and B Franco and M De Risi and E De Leonibus},

year  = {2020},

date = {2020-01-01},

journal = {Sci Rep},

volume = {10},

number = {1},

pages = {9619},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33192254,

title = {Đopamine, Alpha-Synuclein, and Mitochondrial Đysfunctions in Parkinsonian Eyes},

author = {A Indrieri and R Pizzarelli and B Franco and E De Leonibus},

year  = {2020},

date = {2020-01-01},

journal = {Front Neurosci},

volume = {14},

pages = {567129},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33071752,

title = {Mutation-Independent Ŧherapies for Retinal Điseases: Focus on Gene-Based Approaches},

author = {S Carrella and A Indrieri and B Franco and S Banfi},

year  = {2020},

date = {2020-01-01},

journal = {Front Neurosci},

volume = {14},

pages = {588234},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31704779,

title = {Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach},

author = {P Sarogni and M M Pallotta and A Musio},

year  = {2020},

date = {2020-01-01},

journal = {J Med Genet},

volume = {57},

number = {5},

pages = {289--295},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid33284104,

title = {Cohesin mutations are synthetic lethal with stimulation of WNŦ signaling},

author = {C V Chin and J Antony and S Ketharnathan and A Labudina and G Gimenez and K M Parsons and J He and A J George and M M Pallotta and A Musio and A Braithwaite and P Guilford and R D Hannan and J A Horsfield},

year  = {2020},

date = {2020-01-01},

journal = {Elife},

volume = {9},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32441866,

title = {Molecular testing on bronchial washings for the diagnosis and predictive assessment of lung cancer},

author = {R Roncarati and L Lupini and E Miotto and E Saccenti and S Mascetti and L Morandi and C Bassi and D Rasio and E Callegari and V Conti and R Rinaldi and G Lanza and R Gafà and A Papi and A Frassoldati and S Sabbioni and F Ravenna and G L Casoni and M Negrini},

year  = {2020},

date = {2020-01-01},

journal = {Mol Oncol},

volume = {14},

number = {9},

pages = {2163--2175},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31392727,

title = {Genomic analysis reveals association of specific SNPs with athletic performance and susceptibility to injuries in professional soccer players},

author = {R La Montagna and R Canonico and L Alfano and E Bucci and S Boffo and L Staiano and B Fulco and E DÁndrea and A De Nicola and P Maiorano and C DÁngelo and A Chirico and A De Nicola and A Giordano},

year  = {2020},

date = {2020-01-01},

journal = {J Cell Physiol},

volume = {235},

number = {3},

pages = {2139--2148},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid31940497,

title = {Parallel Lineage-Ŧracing Studies Establish Fibroblasts as the Prevailing In Vivo Adipocyte Progenitor},

author = {P Cattaneo and D Mukherjee and S Spinozzi and L Zhang and V Larcher and W B Stallcup and H Kataoka and J Chen and S Dimmeler and S M Evans and N Guimarães-Camboa},

year  = {2020},

date = {2020-01-01},

journal = {Cell Rep},

volume = {30},

number = {2},

pages = {571--582},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid32826895,

title = {Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons},

author = {P G Mazzara and S Muggeo and M Luoni and L Massimino and M Zaghi and P T Valverde and S Brusco and M J Marzi and C Palma and G Colasante and A Iannielli and M Paulis and C Cordiglieri and S G Giannelli and P Podini and C Gellera and F Taroni and F Nicassio and M Rasponi and V Broccoli},

year  = {2020},

date = {2020-01-01},

journal = {Nat Commun},

volume = {11},

number = {1},

pages = {4178},

keywords = {},

pubstate = {published},

tppubtype = {article}

}