A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Autor: Bryn D. Webb, Speck-Martins Ce, Peter S. Chines, Pietro Artoni, Wai-Man Chan, Mary Beth Scholand, Nori Matsunami, Irini Manoli, John C. Carey, Jessica Cannavino, Michela Fagiolini, Mark Leppert, Carlos Ferreira, Connors S, Hartman T, de Macena Sobreira Nl, Eric N. Olson, Frank H. Collins, Di Gioia Sa, Matthew F. Rose, Elizabeth C. Engle, Payam Mohassel, Carsten G. Bönnemann, Andres Ramirez-Martinez, Long Cheng, Van Ryzin C, Ethylin Wang Jabs, Amy J. Swift, Nicole M. Gilette, Stephen P. Robertson, Caroline D. Robson, Timothy R. Morgan, Ian Hayes, Christopher Grunseich, David Markie

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
Nature Communications

Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc661de0f81851a099483a34e623c7b
https://doi.org/10.1038/ncomms16077

Using Online Mendelian Inheritance in Man in low- and middle-income countries.

Autor: de Macena Sobreira NL; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Repetto GM; Rare Diseases Program, Institute of Science and Innovation in Medicine, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Temtamy SA; Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Center, Cairo, Egypt., Alvarez Perez AB; Department of Morphology and Genetic, Federal University of São Paulo, São Paulo, Brazil.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3284-3286. Date of Electronic Publication: 2021 Sep 07.

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.

Autor: Cananzi M; Unit of Pediatric Gastroenterology, Digestive Endoscopy, Hepatology and Care of the Child with Liver Transplantation, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy. mara.cananzi@aopd.veneto.it., Wohler E; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA., Marzollo A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica, Fondazione Città della Speranza, Padova, Italy., Colavito D; Research & Innovation (R&I Genetics) Srl, C.so Stati Uniti 4, Padova, Italy., You J; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA., Jing H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Bresolin S; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.; Istituto di Ricerca Pediatrica, Fondazione Città della Speranza, Padova, Italy., Gaio P; Unit of Pediatric Gastroenterology, Digestive Endoscopy, Hepatology and Care of the Child with Liver Transplantation, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Martin R; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA., Mescoli C; Surgical Pathology and Cytopathology Unit, Department of Medicine (DIMED), University Hospital of Padova, Padova, Italy., Bade S; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Dalle Carbonare M; Research & Innovation (R&I Genetics) Srl, C.so Stati Uniti 4, Padova, Italy., Tung W; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Bosa L; Unit of Pediatric Gastroenterology, Digestive Endoscopy, Hepatology and Care of the Child with Liver Transplantation, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Zhang Y; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Filho JS; Division of Genetics, Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao Paulo, Brazil., Gabelli M; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Kellermayer R; Section of Pediatric Gastroenterology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA., Kader HA; Department of Pediatrics, Division of Pediatric Gastroenterology & Nutrition, University of Maryland School of Medicine, Baltimore, MD, USA., Oliva-Hemker M; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Perilongo G; Unit of Pediatric Gastroenterology, Digestive Endoscopy, Hepatology and Care of the Child with Liver Transplantation, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Biffi A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Valle D; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA., Leon A; Research & Innovation (R&I Genetics) Srl, C.so Stati Uniti 4, Padova, Italy., de Macena Sobreira NL; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA., Su HC; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Guerrerio AL; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. aguerrerio@jhmi.edu.

Publikováno v: Human genetics [Hum Genet] 2021 Sep; Vol. 140 (9), pp. 1299-1312. Date of Electronic Publication: 2021 Jun 29.

Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review.

Autor: Perrone E; Department of Clinical Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., D'Almeida V; Department of Pediatrics and Psychobiology, Universidade Federal de São Paulo, São Paulo, Brazil., de Macena Sobreira NL; Department of Clinical Genetics, Johns Hopkins University, Baltimore, Maryland, USA., de Mello CB; Department of Psychobiology, Universidade Federal de São Paulo, São Paulo, Brazil., de Oliveira AC; Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil., Burlin S; Department of Radiology, Universidade Federal de São Paulo, São Paulo, Brazil., Soares MFF; Department of Radiology, Universidade Federal de São Paulo, São Paulo, Brazil., Cernach MCSP; Department of Clinical Genetics, Universidade Metropolitana de Santos, São Paulo, Brazil., Alvarez Perez AB; Department of Clinical Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul; Vol. 182 (7), pp. 1761-1766. Date of Electronic Publication: 2020 Apr 17.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Autor: Di Gioia SA; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA., Connors S; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Matsunami N; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA., Cannavino J; Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA., Rose MF; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Medical Genetics Training Program, Harvard Medical School, Boston, Massachusetts 02115, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.; Broad Institute of M.I.T. and Harvard, Cambridge, Massachusetts 02142, USA., Gilette NM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA., Artoni P; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA., de Macena Sobreira NL; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA., Chan WM; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, USA., Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029, USA., Robson CD; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Radiology, Harvard Medical School, Boston, Massachusetts 02115, USA., Cheng L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA., Van Ryzin C; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Ramirez-Martinez A; Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Leppert M; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA., Scholand MB; Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA., Grunseich C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Hartman T; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Geisel School of Medicine, Hanover, New Hampshire 03755-1404, USA., Hayes IM; Genetic Health Services New Zealand, Auckland City Hospital, Auckland 1142, New Zealand., Morgan T; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Markie DM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Fagiolini M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA., Swift A; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Chines PS; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Speck-Martins CE; SARAH Network of Rehabilitation Hospitals, Brasilia 70335-901, Brazil., Collins FS; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.; Office of the Director, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Jabs EW; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Olson EN; Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA., Carey JC; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Manoli I; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA., Engle EC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA.; Medical Genetics Training Program, Harvard Medical School, Boston, Massachusetts 02115, USA.; Broad Institute of M.I.T. and Harvard, Cambridge, Massachusetts 02142, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, USA.; Department Ophthalmology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02115, USA.

Publikováno v: Nature communications [Nat Commun] 2017 Jul 06; Vol. 8, pp. 16077. Date of Electronic Publication: 2017 Jul 06.