Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed

Autor: Fateh Bazerbachi, Erin E. Conboy, Taofic Mounajjed, Kymberly D. Watt, Dusica Babovic-Vuksanovic, Shailendra B. Patel, Patrick S. Kamath

Publikováno v: Annals of Hepatology, Vol 16, Iss 6, Pp 970-978 (2017)

Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not a

Externí odkaz: https://doaj.org/article/fa733d3a0ecd4a20886d7632bf80d261

A retrospective analysis of the multidisciplinary approach to ocular genetics: first year clinical results

Autor: Erin E. Conboy, Antoinette Radtke, Katelynn Anderson, Kathryn M. Haider, Sebastian Feher, Jackson Townsend

Publikováno v: Journal of American Association for Pediatric Ophthalmology and Strabismus. 25:e29

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5b969b90e1850f00937a14176bef9448
https://doi.org/10.1016/j.jaapos.2021.08.113

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Autor: Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France., Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France., Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Conboy E; Indiana University School of Medicine, Indianapolis, IN, USA., Vetrini F; Indiana University School of Medicine, Indianapolis, IN, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany., Grace AN; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA., Mitchell B; Baylor College of Medicine in San Antonio, San Antonio, TX, USA., Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Meeks N; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA., Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA., Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Van-Gils J; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., de Sainte-Agathe JM; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA., Weisz-Hubshman M; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA., Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Harder S; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA., Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK., Turro E; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de.

Publikováno v: Nature communications [Nat Commun] 2024 Sep 10; Vol. 15 (1), pp. 7909. Date of Electronic Publication: 2024 Sep 10.

Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.

Autor: Bruns R; Indiana University School of Medicine, Indianapolis, Indiana, USA., Liaqat K; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Nasir A; Department of Anesthesiology, Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Treat K; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Murthy VS; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA., Mantcheva L; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Torres W; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA., Conboy E; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA., Vetrini F; Indiana University School of Medicine, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana Univervsity School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic (URDC), Indiana University School of Medicine, Indianapolis, Indiana, USA.

Publikováno v: Congenital anomalies [Congenit Anom (Kyoto)] 2024 May; Vol. 64 (3), pp. 155-160. Date of Electronic Publication: 2024 Mar 23.

Macrocephaly and developmental delay caused by missense variants in RAB5C.

Autor: Koop K; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands., Yuan W; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Tessadori F; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Rodriguez-Polanco WR; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA., Grubbs J; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA., Zhang B; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Graham G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Sawyer S; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, K1H 8L1, Canada., Conboy E; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Treat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA., Płoski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland., Pienkowski VM; Department of Medical Genetics, Medical University of Warsaw, Warsaw, 02-106, Poland.; Marseille Medical Genetics U1251, Aix Marseille University, Marseille, 13005, France., Kłosowska A; Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, Gdańsk, 80-210, Poland., Fieg E; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA., Krier J; Brigham and Women's Hospital, Boston, MA, 02115, USA.; Harvard Medical School, Boston, MA, 02115, USA., Mallebranche C; Unité d'Onco-Hémato-Immunologie pédiatrique, CHU d'Angers, Angers, 49933, France., Alban Z; Service de génétique, CHU d'Angers, Angers, 49933, France., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA., Ritter D; Department of Pediatrics, Oncology Section, Baylor College of Medicine, Houston, TX, 77030, USA., Macnamara E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD, 20892, USA., Sullivan B; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO, 64108, USA., Helbig C; The Epilepsy Neurogenetics Initiative, Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Ellis CA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia PA, 19104, USA., van Eyk C; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia., Gecz J; Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, 5006, Australia., Farrugia D; Haematology, Mater Dei Hospital, Msida, MSD2090, Malta., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Adès L; Department of Clinical Genetics, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, 2145, Australia., van den Boogaard MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands., Fuchs S; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands., Bakker J; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Duran K; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584 CT, The Netherlands., Dawson ZD; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Lindsey A; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Huang H; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Baldridge D; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Silverman GA; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Grant BD; Department of Molecular Biology and Biochemistry, Rutgers, The State University of New Jersey, Piscataway, NJ, 08854, USA., Raizen D; Department of Neurology and the Chronobiology and Sleep Institute, University of Pennsylvania, Philadelphia, PA, 19104, USA., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584EA, The Netherlands., Pak SC; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., Rehmann H; Department of Energy and Biotechnology, Flensburg University of Applied Sciences, 24943, Flensburg, Germany., Schedl T; Departments of Pediatrics and Genetics, C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA., van Hasselt P; Department of Pediatrics, University Medical Center Utrecht, Utrecht, 3584 EA, The Netherlands.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Oct 17; Vol. 32 (21), pp. 3063-3077.