Rojas Pedemonte, N. y Koechlin, J. (2017), Migración Haitiana hacia el Sur Andino

Autor: Carlos Nieto

Publikováno v: Migraciones, Vol 0, Iss 43, Pp 187-188 (2017)

Externí odkaz: https://doaj.org/article/62345862d68d43d794c155036cb3d712

Distinct Responses of Cystic Fibrosis Epithelial Cells to SARS-CoV-2 and Influenza A Virus.

Autor: Pagani I; IRCCS San Raffaele Scientific Institute, Milano, Italy., Venturini A; Telethon Institute of Genetics and Medicine, Pozzuoli, NA, Italy., Capurro V; Istituto Giannina Gaslini Istituto Pediatrico di Ricovero e Cura a Carattere Scientifico, Genova, Liguria, Italy., Nonis A; Vita-Salute San Raffaele University, University Center for Statistics in the Biomedical Sciences (CUSSB), Milano, Italy., Ghezzi S; IRCCS San Raffaele Scientific Institute, Milano, Italy., Lena M; Istituto Giannina Gaslini Istituto Pediatrico di Ricovero e Cura a Carattere Scientifico, Genova, Liguria, Italy., Alcalá-Franco B; IRCCS San Raffaele Scientific Institute, Milano, Italy., Gianferro F; IRCCS San Raffaele Scientific Institute, Milano, Italy., Guidone D; Telethon Institute of Genetics and Medicine, Pozzuoli, NA, Italy., Colombo C; Ospedale Maggiore Policlinico, Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda, Milano, Italy., Pedemonte N; Istituto Giannina Gaslini Istituto Pediatrico di Ricovero e Cura a Carattere Scientifico, Genova, Liguria, Italy., Bragonzi A; IRCCS San Raffaele Scientific Institute, Milano, Italy., Cigana C; IRCCS San Raffaele Scientific Institute, Milano, Italy., Galietta LJV; Telethon Institute of Genetics and Medicine, Pozzuoli, A, Italy., Vicenzi E; IRCCS San Raffaele Scientific Institute, Milano, Italy; vicenzi.elisa@hsr.it.

Publikováno v: American journal of respiratory cell and molecular biology [Am J Respir Cell Mol Biol] 2024 Sep 23. Date of Electronic Publication: 2024 Sep 23.

Tezacaftor is a direct inhibitor of sphingolipid delta-4 desaturase enzyme (DEGS).

Autor: Ciobanu DZ; Analytical Chemistry Facility, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy., Liessi N; Analytical Chemistry Facility, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy., Tomati V; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy., Capurro V; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy., Bertozzi SM; Analytical Chemistry Facility, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy., Summa M; Translational Pharmacology Facility, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy., Bertorelli R; Translational Pharmacology Facility, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy., Loberto N; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via F.lli Cervi 93, 20054, Segrate, Milano, Italy., Dobi D; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via F.lli Cervi 93, 20054, Segrate, Milano, Italy., Aureli M; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via F.lli Cervi 93, 20054, Segrate, Milano, Italy., Nobbio L; IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132, Genova, Italy., Bandiera T; D3 PharmaChemistry, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy., Pedemonte N; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy., Bassi R; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Via F.lli Cervi 93, 20054, Segrate, Milano, Italy., Armirotti A; Analytical Chemistry Facility, Istituto Italiano di Tecnologia, Via Morego 30, 16163, Genova, Italy. Electronic address: andrea.armirotti@iit.it.

Publikováno v: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2024 May 23. Date of Electronic Publication: 2024 May 23.

De novo variants in DENND5B cause a neurodevelopmental disorder.

Autor: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Tomati V; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Ferla M; Oxford Protein Informatics Group, Department of Statistics, University of Oxford, Oxford, UK., Lena M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Fatemi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Brokamp E; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Bican A; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Phillips JA 3rd; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Koziura ME; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Nicouleau M; Université Paris Cité, Imagine Institute, Developmental Brain Disorders Laboratory, INSERM UMR 1163, 75015 Paris, France., Rio M; Université Paris Cité, Imagine Institute, Developmental Brain Disorders Laboratory, INSERM UMR 1163, 75015 Paris, France; Service de Génétique, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Pairs, Paris, France., Siquier K; Université Paris Cité, Imagine Institute, Developmental Brain Disorders Laboratory, INSERM UMR 1163, 75015 Paris, France., Boddaert N; Département de Radiologie Pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Hôpital Necker-Enfants Malades, Paris, France., Musante I; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Tamburro S; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Baldassari S; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Iacomino M; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Scudieri P; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA., Bellus G; Clinical Genetics, Geisinger Medical Center, Danville, PA 17822, USA., Reed S; Clinical Genetics, Geisinger Medical Center, Danville, PA 17822, USA., Al Saif H; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., Russo RS; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Walsh MB; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Cantagrel V; Université Paris Cité, Imagine Institute, Developmental Brain Disorders Laboratory, INSERM UMR 1163, 75015 Paris, France., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., Gustincich S; Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, 16163 Genoa, Italy., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fitzgerald MP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Salpietro V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: v.salpietro@ucl.ac.uk., Pedemonte N; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy. Electronic address: nicolettapedemonte@gaslini.org., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Mar 07; Vol. 111 (3), pp. 529-543. Date of Electronic Publication: 2024 Feb 21.

SUMOylation Inhibition Enhances Protein Transcription under CMV Promoter: A Lesson from a Study with the F508del-CFTR Mutant.

Autor: Borgo C; Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy., D'Amore C; Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy., Capurro V; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147 Genova, Italy., Tomati V; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147 Genova, Italy., Pedemonte N; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147 Genova, Italy., Bosello Travain V; Department of Molecular Medicine, University of Padova, 35131 Padova, Italy., Salvi M; Department of Biomedical Sciences, University of Padova, 35131 Padova, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 15; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 15.