Biallelic loss-of-function variants of EZH1 cause a novel developmental disorder with central precocious puberty.

Autor: Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan., Yoshida S; Department of Pediatrics, Nara Prefecture General Medical Center, Nara, Japan., Ogitani A; Department of Neonatal Intensive Care Unit, Nara Prefecture General Medical Center, Nara, Japan., Etani Y; Department of Gastroenterology, Nutrition and Endocrinology, Osaka Women's and Children's Hospital, Izumi, Japan., Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan., Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63726. Date of Electronic Publication: 2024 May 30.

MGA loss-of-function variants cause premature ovarian insufficiency.

Autor: Tang S; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China., Guo T; State Key Laboratory of Reproductive Medicine and Offspring Health, Shandong University, Jinan, China., Song C; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China., Wang L; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China., Zhang J; Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, China., Rajkovic A; Department of Pathology, Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA., Lin X; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China., Chen S; Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, China., Liu Y; Human Phenome Institute, Zhangjiang Fudan International Innovation Center and., Tian W; School of Life Sciences, Fudan University, Shanghai, China., Wu B; Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China., Wang S; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Wang W; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Lai Y; Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, China., Wang A; Center for Reproductive Medicine, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, China., Xu S; Human Phenome Institute, Zhangjiang Fudan International Innovation Center and.; School of Life Sciences, Fudan University, Shanghai, China., Jin L; Human Phenome Institute, Zhangjiang Fudan International Innovation Center and.; School of Life Sciences, Fudan University, Shanghai, China., Ke H; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China.; State Key Laboratory of Reproductive Medicine and Offspring Health, Shandong University, Jinan, China., Zhao S; State Key Laboratory of Reproductive Medicine and Offspring Health, Shandong University, Jinan, China., Li Y; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Qin Y; State Key Laboratory of Reproductive Medicine and Offspring Health, Shandong University, Jinan, China., Zhang F; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China.; Human Phenome Institute, Zhangjiang Fudan International Innovation Center and.; Shanghai Key Laboratory of Embryo Original Diseases, Soong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital of China Welfare Institute, Shanghai, China., Chen ZJ; State Key Laboratory of Reproductive Medicine and Offspring Health, Shandong University, Jinan, China.; Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.; Research Unit of Gametogenesis and Health of ART-Offspring, Chinese Academy of Medical Sciences (no. 2021RU001), Jinan, China.; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Nov 15; Vol. 134 (22). Date of Electronic Publication: 2024 Nov 15.

Depletion of loss-of-function germline mutations in centenarians reveals longevity genes.

Autor: Ying K; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA.; T. H. Chan School of Public Health, Harvard University, Boston, USA., Castro JP; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA.; i3S, Instituto de Investigação e Inovação em Saúde, Universidade do Porto and Aging and Aneuploidy Laboratory, IBMC, Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal., Shindyapina AV; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA.; Retro Biosciences, Redwood City, USA., Tyshkovskiy A; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA., Moqri M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA., Goeminne LJE; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA., Milman S; Department of Genetics, Albert Einstein College of Medicine, Bronx, USA.; Department of Medicine, Albert Einstein College of Medicine, Bronx, USA., Zhang ZD; Department of Genetics, Albert Einstein College of Medicine, Bronx, USA., Barzilai N; Department of Genetics, Albert Einstein College of Medicine, Bronx, USA.; Department of Medicine, Albert Einstein College of Medicine, Bronx, USA., Gladyshev VN; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA. vgladyshev@rics.bwh.harvard.edu.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 19; Vol. 15 (1), pp. 9030. Date of Electronic Publication: 2024 Oct 19.

Pathogenic loss-of-function mutations in LRP1B are associated with poor survival in head and neck cancer patients.

Autor: Arumugam P; Molecular Biology Laboratory, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, India. Electronic address: paramasivama.sdc@saveetha.com., M SM; Department of Oral and Maxillofacial Surgery, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, India., Jayaseelan VP; Clinical Genetics Laboratory, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, India.

Publikováno v: Journal of stomatology, oral and maxillofacial surgery [J Stomatol Oral Maxillofac Surg] 2024 Oct; Vol. 125 (5S2), pp. 101971. Date of Electronic Publication: 2024 Jul 18.

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Autor: Kohler JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA. Electronic address: jkohler@stanfordhealthcare.org., Legro NR; Department of Obstetrics and Gynecology, MedStar Washington Hospital Center and Georgetown University Hospital, Washington, DC. Electronic address: nicole.legro@gunet.georgetown.edu., Baldridge D; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Shin J; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Bowman A; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Ugur B; Departments of Neuroscience and of Cell Biology, Yale University School of Medicine, New Haven, CT., Jackstadt MM; Department of Chemistry, Washington University in St. Louis, St. Louis, MO; Department of Medicine, Washington University in St. Louis, St. Louis, MO; Center for Proteomics, Metabolomics, and Isotope Tracing, Washington University in St. Louis, St. Louis, MO., Shriver LP; Department of Chemistry, Washington University in St. Louis, St. Louis, MO; Department of Medicine, Washington University in St. Louis, St. Louis, MO; Center for Proteomics, Metabolomics, and Isotope Tracing, Washington University in St. Louis, St. Louis, MO., Patti GJ; Department of Chemistry, Washington University in St. Louis, St. Louis, MO; Department of Medicine, Washington University in St. Louis, St. Louis, MO; Center for Proteomics, Metabolomics, and Isotope Tracing, Washington University in St. Louis, St. Louis, MO., Zhang B; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Feng W; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., McAdow AR; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Goddard P; Department of Genetics, Stanford University School of Medicine, Stanford, CA., Ungar RA; Department of Genetics, Stanford University School of Medicine, Stanford, CA., Jensen T; Department of Genetics, Stanford University School of Medicine, Stanford, CA., Smith KS; Department of Pathology, Stanford University School of Medicine, Stanford, CA., Fresard L; Invitae, San Francisco, CA., Alvarez R; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA., Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA., Reuter CM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA., McCormack C; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA., Kravets E; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA., Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA., Holt JM; PacBio, 1305 O'Brien Drive Menlo Park, CA., Worthey EA; Center for Computational Genomics and Data Science, Department of Genetics, University of Alabama, Birmingham, AL., Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA., Montgomery SB; Department of Genetics, Stanford University School of Medicine, Stanford, CA; Department of Pathology, Stanford University School of Medicine, Stanford, CA., Fisher PG; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA., Postlethwait J; Institute of Neuroscience, University of Oregon, Eugene, OR., De Camilli P; Departments of Neuroscience and of Cell Biology, Howard Hughes Medical Institute, Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT., Solnica-Krezel L; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep; Vol. 26 (9), pp. 101166. Date of Electronic Publication: 2024 May 17.