NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Autor: Guo H; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address: guohui@sklmg.edu.cn., Zhang Q; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Dai R; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Department of Psychiatry, SUNY Upstate Medical University, Syracuse, NY 13210, USA., Yu B; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Tan J; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Tan S; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Jia X; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10027, USA., Hernan R; Department of Pediatrics and Medicine, Columbia University, New York, NY 10027, USA., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Alsulaiman A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon 69000, France., Pons L; Department of Medical Genetics, Lyon University Hospital, Lyon 69000, France., Labalme A; Department of Medical Genetics, Lyon University Hospital, Lyon 69000, France., Laux L; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Bryant E; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Brown NJ; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3010, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Savva E; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3010, Australia., Ayres S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Melbourne Genomics Health Alliance, Melbourne, VIC 3010, Australia., Eratne D; Melbourne Genomics Health Alliance, Melbourne, VIC 3010, Australia; Neuropsychiatry, Royal Melbourne Hospital, Melbourne, VIC 3010, Australia., Peeters H; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven 3000, Belgium., Bilan F; Service de Génétique, CHU de Poitiers, Poitiers 86000, France., Letienne-Cejudo L; Service de Génétique, CHU de Poitiers, Poitiers 86000, France., Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Poitiers 86000, France., Ruiz-Arana IL; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Merlini JM; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Boizot A; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Bartoloni L; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Santoni F; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland; Faculty of Biology and Medicine, University of Lausanne, Lausanne 1005, Switzerland., Karlowicz D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Wu H; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Hu Z; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Chen G; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Ou J; Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, Hunan 410078, China., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense 5000, Denmark., Dreyer I; Department of Pediatrics, Hospital Sønderjylland, Aabenraa 6200, Denmark., Chun-Hui Tsai A; Department of Pediatrics/Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma, OK 73019, USA; Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus and Children's Hospital Colorado, Aurora, CO 80045, USA., Slegesky V; Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus and Children's Hospital Colorado, Aurora, CO 80045, USA., McGee RB; Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Daniels B; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Carpenter LA; Saint Francis Health System, Inc. St Francis Health Systems, Tulsa, OK 74101, USA., Schaefer B; Arkansas Children's Hospital, Little Rock, AR 72202, USA., Sacoto MJG; GeneDx, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Schnur RE; GeneDx, Gaithersburg, MD 20877, USA., Punj S; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Rhodes L; GeneDx, Gaithersburg, MD 20877, USA., Pan Q; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Bernier RA; Department of Psychiatry, University of Washington, Seattle, WA 98195, USA., Chen C; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Xia K; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410078, China; Hunan Key Laboratory of Animal Models for Human Diseases, Changsha, Hunan 410078, China; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai 200000, China. Electronic address: xiakun@sklmg.edu.cn.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Nov 05; Vol. 107 (5), pp. 963-976.

Effects of TRP channel agonist ingestion on metabolism and autonomic nervous system in a randomized clinical trial of healthy subjects.

Autor: Michlig S; Nestlé Research Center, Vers-chez-les-Blanc, Lausanne, Switzerland., Merlini JM; Nestlé Research Center, Vers-chez-les-Blanc, Lausanne, Switzerland., Beaumont M; Nestlé Research Center, Vers-chez-les-Blanc, Lausanne, Switzerland., Ledda M; Nestlé Research Center, Vers-chez-les-Blanc, Lausanne, Switzerland., Tavenard A; Nestlé Research Center, Vers-chez-les-Blanc, Lausanne, Switzerland., Mukherjee R; Nestlé Research Center, Vers-chez-les-Blanc, Lausanne, Switzerland., Camacho S; Nestlé Research Center, Vers-chez-les-Blanc, Lausanne, Switzerland., le Coutre J; Nestlé Research Center, Vers-chez-les-Blanc, Lausanne, Switzerland.; The University of Tokyo, Organization for Interdisciplinary Research Projects, 1-1-1 Yayoi, Bunkyo-ku, Tokyo 113-8657, Japan.

Publikováno v: Scientific reports [Sci Rep] 2016 Feb 17; Vol. 6, pp. 20795. Date of Electronic Publication: 2016 Feb 17.