Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain.

Autor: Shepherdson JL; Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.; Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine in St. Louis, St. Louis, MO 63110., Granas DM; Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.; Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine in St. Louis, St. Louis, MO 63110., Li J; Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.; Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine in St. Louis, St. Louis, MO 63110., Shariff Z; Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.; Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine in St. Louis, St. Louis, MO 63110., Plassmeyer SP; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.; Center for Biomolecular Condensates, Washington University School of Medicine in St. Louis, St. Louis, MO 63110., Holehouse AS; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.; Center for Biomolecular Condensates, Washington University School of Medicine in St. Louis, St. Louis, MO 63110., White MA; Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.; Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine in St. Louis, St. Louis, MO 63110., Cohen BA; Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.; Edison Family Center for Genome Sciences & Systems Biology, Washington University School of Medicine in St. Louis, St. Louis, MO 63110.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Mar 27. Date of Electronic Publication: 2024 Mar 27.

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Autor: Shepherdson JL; Medical Scientist Training Program, Washington University School of Medicine, St. Louis, MO, USA., Hutchison K; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Don DW; Department of Biology, Chungnam National University, Daejeon 34134, Korea., McGillivray G; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Choi TI; Department of Biology, Chungnam National University, Daejeon 34134, Korea., Allan CA; Hudson Institute of Medical Research, Monash University, and Department of Endocrinology, Monash Health, Melbourne, Australia., Amor DJ; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Basel DG; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Buch LD; Greenwood Genetic Center, Greenwood, SC, USA., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Carroll R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Crawford A; Medical Genomics Research, Illumina Inc, San Diego, CA, USA., Dunø M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; INSERM UMR1231, Equipe GAD, Université de Bourgogne-Franche Comté, 21000 Dijon, France., Gilfillan CP; Eastern Health Clinical School, Monash University, Melbourne, VIC, Australia; Department of Endocrinology, Eastern Health, Box Hill Hospital, Melbourne, VIC, Australia., Gold NB; Harvard Medical School, Boston, MA, USA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA, USA., Gripp KW; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA., Hobson E; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK., Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Innes AM; Departments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, 44000 Nantes, France., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Amel Riazat Kesh L; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, 44000 Nantes, France., Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Lockhart P; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Maraval J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; INSERM UMR1231, Equipe GAD, Université de Bourgogne-Franche Comté, 21000 Dijon, France., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., McCarthy J; Department of Endocrinology, Eastern Health, Box Hill Hospital, Melbourne, VIC, Australia., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo 162-8655, Japan., Moey LH; Department of Genetics, Penang General Hospital, George Town, Penang, Malaysia., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Patel R; Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA., Pope K; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Schnur RE; GeneDx, Gaithersburg, MD 20877, USA., Shaw M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., Taylor JP; Medical Genomics Research, Illumina Inc, San Diego, CA, USA., Wadman E; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA., Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., White SM; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Wong LC; Medical Genetics, Kaiser Permanente Downey Medical Center, Downey, CA, USA., 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, TX, USA; Texas Children's Hospital, Houston, TX, USA., Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Corbett MA; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Nicolet CM; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Farnham PJ; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Kim CH; Department of Biology, Chungnam National University, Daejeon 34134, Korea. Electronic address: zebrakim@cnu.ac.kr., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Mar 07; Vol. 111 (3), pp. 487-508. Date of Electronic Publication: 2024 Feb 06.

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.

Autor: Shepherdson JL; Medical Scientist Training Program, Washington University School of Medicine, St. Louis, MO, USA., Zheng H; Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, MO, USA., Amarillo IE; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA., McAlinden A; Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, MO, USA; Department of Cell Biology & Physiology, Washington University School of Medicine, St. Louis, MO, USA; Shriners Hospital for Children - St. Louis, St. Louis, MO, USA., Shinawi M; Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.

Publikováno v: Bone [Bone] 2021 Jan; Vol. 142, pp. 115705. Date of Electronic Publication: 2020 Oct 22.