Rita M Alves, Paolo Uva, Manuela Oppo, ..., Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Francesco Cucca, . ..., Andrea Angius, Laura Crisponi

BMC Medical Genetics - 2019 doi: 10.1186/s12881-019-0745-7

[2-CMU19]

MicroRNA-127-3p controls murine hematopoietic stem cell maintenance by limiting differentiation

Laura Crisafulli, Sharon Muggeo, Paolo Uva, Yulei Wang, ..., Anna Villa, Bernhard Gentner, Francesca Ficara

Haematologica - 2019 doi: 10.3324/haematol.2018.198499

[2-AUP19]

Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma

Andrea Angius, Paolo Uva, Giovanna Pira, ..., Paolo Cossu-Rocca, Maria Rosaria De Miglio

International Journal of Molecular Sciences pages 4067 vol. 20 num. 16 - 2019 doi: 10.3390/ijms20164067

[2-AUO19]

Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses

Andrea Angius, Paolo Uva, Manuela Oppo, I Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, ..., Francesco Cucca, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi

Clinical Genetics - 2019 doi: 10.1111/cge.13532

[2-APS19]

MicroRNA-425-5p Expression Affects BRAF/RAS/MAPK Pathways In Colorectal Cancers

Andrea Angius, Giovanna Pira, Antonio Scanu, Paolo Uva, ..., Paolo Cossu-Rocca, Maria Rosaria De Miglio

International Journal of Medical Sciences - 2019 doi: 10.7150/ijms.35269

Publications en 2018

Peer-reviewed publications in International Journals

[2-C.U18]

Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa

Francesca Cianfarani, ..., Paolo Uva, . ...

Matrix Biology vol. In press - 2018 doi: doi.org/10.1016/j.matbio.2018.12.001

[2-.U.18]

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

..., Silvana Urru, . ...

Nephrol Dial Transplant - august 2018 doi: 10.1093/ndt/gfy270

[2-PZP18]

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1

Eleonora Palagano, Giulia Zuccarini, Paolo Prontera, ..., Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Giorgio Merlo, Cristina Sobacchi

Bone - june 2018 doi: 10.1016/j.bone.2018.06.013

[2-CCC18]

Neutrophils drive type-I interferon production and autoantibodies in Wiskott-Aldrich syndrome

Karla Cervantes-Luevano, Nicoletta Caronni, Maria Carmina Castiello, ..., Paolo Uva, Marita Bosticardo, . ..., Alessandro Aiuti, Anna Villa, Federica Benvenuti

Journal of Allergy and Clinical Immunology - february 2018 doi: 10.1016/j.jaci.2017.11.063

[2-CR.18]

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever

Roberta Caorsi, Marta Rusmini, ..., Paolo Uva, . ..., Isabella Ceccherini, Marco Gattorno

Frontiers In Immunology - january 2018 doi: doi.org/10.3389/fimmu.2017.02015

[2-U.18]

Clinical and pathological factors influencing survival in a large cohort of triple-negative breast cancer patients

Silvana Urru, ...

BMC Cancer - january 2018 doi: 10.1186/s12885-017-3969-y

Various talks, works and publications

[6-C.C18]

ADA2 deficiency without ADA2 mutations explained by a structural homozygous variation in 22Q11.1

Roberta Caorsi, ..., Roberto Cusano, Paolo Uva, . ...

Poster presentation at European Paediatric Rheumatology Congress, Lisbon 2018 - 2018

[6-.CU18]

Distinct signatures of the gut microbiome in an italian cohort of patients with parkinson’s disease

..., Roberto Cusano, Paolo Uva, . ...

Poster presentation at 46 Congresso Nazionale della Società Italiana di Microbiologia, Palermo, 26-29 settembre 2018 - september 2018

Publications en 2017

Peer-reviewed publications in International Journals

[2-CCF17]

Efficacy of lentiviral mediated gene therapy in an Omenn syndrome Rag2 mouse model is not hindered by inflammation and immune dysregulation

Valentina Capo, Maria Carmina Castiello, Elena Fontana, ..., Paolo Uva, . ..., Anna Villa

Journal of Allergy and Clinical Immunology - 2017 doi: 10.1016/j.jaci.2017.11.015

[2-C.C17]

HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia

Giovanni Caocci, ..., Roberto Cusano, . ...

Leukemia research - august 2017 doi: 10.1016/j.leukres.2017.08.005

[2-L.C17]

KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation.

Roberto Littera, ..., Roberto Cusano, . ..., Carlo Carcassi

PLoS ONE - july 2017 doi: 10.1371/journal.pone.0180831

[2-P.C17]

Population- and individual-specific regulatory variation in Sardinia.

Mauro Pala, ..., Roberto Cusano, . ...

Nature Genetics - may 2017

[2-SOI17]

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Maristella Steri, Valeria Orrú, Maria Laura Idda, Maristella Pitzalis, Mauro Pala, Ilenia Zara, Sidore Carlo, Valeria Faa, Matteo Floris, ..., Roberto Cusano, Gianmauro Cuccuru, . ..., Francesco Cucca

The New England Journal of Medicine pages 1615-1626 vol. 376 - april 2017 doi: 10.1056/NEJMoa1610528

Publications en 2016

Peer-reviewed publications in International Journals

[2-RCA16]

Report on the Sixth Blind Test of Organic Crystal-Structure Prediction Methods

Anthony M. Reilly, Richard I. Cooper, Claire S. Adjiman, Detlef W.M. Hofmann, Liudmila Kuleshova, ...

Acta Crystallographica Section B: Structural Science, Crystal Engineering and Materials International Union of Crystallography pages 439--459 vol. 72 num. 4 - 2016 doi: 10.1107/S2052520616007447

[2-AUB16]

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, I Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, ..., G Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

American Journal of Human Genetics pages 236-245 vol. 99 num. 1 - july 2016 doi: 10.1016/j.ajhg.2016.05.026

Various talks, works and publications

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ..., Gianmauro Cuccuru, Giorgio Fotia, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016

[6-R.U16]

Ricerca di geni coinvolti in immunodeficienze primarie (PID) e in malattie autoinfiammatorie (AIDs) tramite whole-exome sequencing

Marta Rusmini, ..., Paolo Uva, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - november 2016

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype