Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Autor: Greene D; Department of Medicine, University of Cambridge, Cambridge, UK.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Pirri D; National Heart and Lung Institute, Imperial College London, London, UK., Frudd K; National Heart and Lung Institute, Imperial College London, London, UK.; University College London Institute of Ophthalmology, University College London, London, UK., Sackey E; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK., Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Giese APJ; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Ramzan K; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Riaz S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Yamanaka I; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan., Boeckx N; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., Thys C; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Gelb BD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Brennan P; Northern Genetics Service, Newcastle upon Tyne Hospitals National Health Service Trust International Centre for Life, Newcastle upon Tyne, UK., Hartill V; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals National Health Service Trust, Leeds, UK.; Leeds Institute of Medical Research, University of Leeds, Leeds, UK., Harvengt J; Centre for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium., Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan.; Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan., Mansour S; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; South West Thames Regional Genetics Service, St. George's University Hospitals National Health Service Foundation Trust, London, UK., Masuno M; Department of Medical Genetics, Kawasaki Medical School Hospital, Okayama, Japan., Ohata T; Okinawa Chubu Hospital, Okinawa, Japan., Stewart H; Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Taibah K; Ear Nose and Throat Medical Centre, Riyadh, Saudi Arabia., Turner CLS; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Exeter, UK., Imtiaz F; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Riazuddin S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Morisaki T; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.; Division of Molecular Pathology and Department of Internal Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan., Ostergaard P; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK., Loeys BL; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Morisaki H; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan., Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA., Birdsey GM; National Heart and Lung Institute, Imperial College London, London, UK., 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.; South West National Health Service Genomic Medicine Service Alliance, Bristol, UK., Turro E; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK. ernest.turro@mssm.edu.; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. ernest.turro@mssm.edu.

Publikováno v: Nature medicine [Nat Med] 2023 Mar; Vol. 29 (3), pp. 679-688. Date of Electronic Publication: 2023 Mar 16.

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.

Autor: Sofronova V; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan.; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, Yakutsk, Russia., Fukushima Y; Division of Neonatology, National Hospital Organization Okayama Medical Center, Okayama, Japan., Masuno M; Department of Medical Genetics, Kawasaki Medical School Hospital, Kurashiki, Japan.; Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan., Naka M; Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan., Nagata M; Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, Suita, Japan., Ishihara Y; Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, Suita, Japan., Miyashita Y; Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, Suita, Japan., Asano Y; Department of Cardiovascular Medicine (IRUD Analysis Center), Osaka University Graduate School of Medicine, Suita, Japan., Moriwaki T; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan., Iwata R; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan., Terawaki S; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan., Yamanouchi Y; Department of Medical Genetics, Kawasaki Medical School Hospital, Kurashiki, Japan.; Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan., Otomo T; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki, Japan. otomo@med.kawasaki-m.ac.jp.; Department of Medical Genetics, Kawasaki Medical School Hospital, Kurashiki, Japan. otomo@med.kawasaki-m.ac.jp.

Publikováno v: Human genome variation [Hum Genome Var] 2022 Jul 25; Vol. 9 (1), pp. 26. Date of Electronic Publication: 2022 Jul 25.

Targeting CBP and p300: Emerging Anticancer Agents.

Autor: Masci, Domiziana¹ (AUTHOR) domiziana.masci@unicatt.it, Puxeddu, Michela² (AUTHOR) michela.puxeddu@uniroma1.it, Silvestri, Romano² (AUTHOR) romano.silvestri@uniroma1.it, La Regina, Giuseppe² (AUTHOR) giuseppe.laregina@uniroma1.it

Publikováno v: Molecules. Oct2024, Vol. 29 Issue 19, p4524. 22p.

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Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.

Autor: Nishimura N; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.; Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan., Murakami H; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan., Saito T; Department of Clinical Laboratory, Kanagawa Children's Medical Center, Yokohama, Japan., Masuno M; Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan., Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

Publikováno v: Congenital anomalies [Congenit Anom (Kyoto)] 2020 Jul; Vol. 60 (4), pp. 128-130. Date of Electronic Publication: 2019 Oct 21.