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Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.

Autor: Copeland I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Wonkam-Tingang E; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Gupta-Malhotra M; Department of Cardiology, Baylor College of Medicine, San Antonio, Texas, USA., Hashmi SS; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Han Y; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Jajoo A; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Hall NJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA., Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA., Lie N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.; US Department of Agriculture Agricultural Research Service Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA., Liu D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Xu J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA., Haldipur A; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Desire Z; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular Physiology and Biophysics., Li Q; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics; and.; Department of Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA., Zaske AM; Department of Pediatrics, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Milewicz DM; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Shete S; The University of Texas MD Anderson Cancer Center, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, Texas, USA., Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Childhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, USA.

Publikováno v: JCI insight [JCI Insight] 2024 May 08; Vol. 9 (9). Date of Electronic Publication: 2024 May 08.

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.

Autor: Rios JJ; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Departments of Pediatrics University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: jonathan.rios@tsrh.org., Li Y; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA., Paria N; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA., Bohlender RJ; Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA., Huff C; Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Liu P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Bi W; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Haga K; Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Miyagi 980-8578, Japan., Fukuda M; Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Miyagi 980-8578, Japan., Vashisth S; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Kaur K; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Chahrour MH; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Peter O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Bober MB; Nemours Children's Hospital, Wilmington, DE 19803, USA; Thomas Jefferson University, Philadelphia, PA 19144, USA., Duker AL; Nemours Children's Hospital, Wilmington, DE 19803, USA., Ladha FA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hanchard NA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Atala K; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA., Khanshour AM; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA., Smith L; Department of Neurology, Scottish Rite for Children, Dallas, TX 75219, USA., Wise CA; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Departments of Pediatrics University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Delgado MR; Department of Neurology, Scottish Rite for Children, Dallas, TX 75219, USA; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Dec 07; Vol. 110 (12), pp. 2103-2111. Date of Electronic Publication: 2023 Nov 03.