Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway

Autor: Yu Guo, Minjie Shen, Qiping Dong, Natasha M. Méndez-Albelo, Sabrina X. Huang, Carissa L. Sirois, Jonathan Le, Meng Li, Ezra D. Jarzembowski, Keegan A. Schoeller, Michael E. Stockton, Vanessa L. Horner, André M. M. Sousa, Yu Gao, Birth Defects Research Laboratory, Jon E. Levine, Daifeng Wang, Qiang Chang, Xinyu Zhao

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)

Abstract Fragile X messenger ribonucleoprotein 1 protein (FMRP) binds many mRNA targets in the brain. The contribution of these targets to fragile X syndrome (FXS) and related autism spectrum disorder (ASD) remains unclear. Here, we show that FMRP de

Externí odkaz: https://doaj.org/article/c712033063bc4873a8e01bd8ebf89faa

Developmental control of rod number via a light-dependent retrograde pathway from intrinsically photosensitive retinal ganglion cells.

Autor: D'Souza SP; Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Science of Light Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address: shane.dsouza@cchmc.org., Upton BA; Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Science of Light Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Eldred KC; Department of Biological Structure, University of Washington, Seattle, WA 98195, USA., Glass I; Birth Defects Research Laboratory, Institute for Stem Cell and Regenerative Medicine, University of Washington School of Medicine, Seattle, WA 98109, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98195, USA., Nayak G; Transgenic Animal and Genome Editing Core, Department of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Grover K; Division of Hematology and Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Neuroscience Graduate Program, University of Cincinnati, Cincinnati, OH 45229, USA., Ahmed A; Medical Doctor (M.D.) Training Program, George Washington University School of Medicine, Washington, DC 20052, USA., Nguyen MT; Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Science of Light Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Hu YC; Transgenic Animal and Genome Editing Core, Department of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Gamlin P; Department of Ophthalmology and Visual Sciences, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Lang RA; Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Science of Light Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Ophthalmology, University of Cincinnati, Cincinnati, OH 45229, USA. Electronic address: richard.lang@cchmc.org.

Publikováno v: Developmental cell [Dev Cell] 2024 Aug 08. Date of Electronic Publication: 2024 Aug 08.

Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors.

Autor: Peng Z; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Wei J; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Chen B; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Huang X; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Song P; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Liang L; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., He J; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Feng B; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Que T; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Qin J; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Xie Y; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Qiu X; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., Wei H; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China., He S; Birth Defects Research Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention, Nanning, China.; Birth Defects Research Laboratory, Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning, China.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2023 Jul 21; Vol. 11, pp. 1165477. Date of Electronic Publication: 2023 Jul 21 (Print Publication: 2023).

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Autor: Cox LL; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Developmental Biology & Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., Cox TC; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Developmental Biology & Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Anatomy & Developmental Biology, Monash University, Clayton, VIC 3800, Australia. Electronic address: tccox@uw.edu., Moreno Uribe LM; Department of Orthodontics & the Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA., Zhu Y; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia; Genetics of Learning Disability Service, Waratah, NSW 2298, Australia., Richter CT; Department of Orthodontics & the Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA., Nidey N; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Standley JM; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Deng M; Birth Defects Research Laboratory, University of Washington, Seattle, WA 98195, USA., Blue E; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Yang Y; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Carstens RP; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Anand D; Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA., Lachke SA; Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Dorschner MO; Northwest Clinical Genomics Laboratory, Center for Precision Diagnostics, University of Washington, Seattle, WA 98195, USA; Department of Pathology, University of Washington, Seattle, WA 98195, USA., Bedell B; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Kirk E; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia., Hing AV; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, the Netherlands., Valencia-Ramirez LC; Fundación Clínica Noel, Medellin 050021, Colombia., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Glass IA; Birth Defects Research Laboratory, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Cooper JA; Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA., Haan E; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), North Adelaide, SA 5006, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., van Bokhoven H; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Zhou H; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, the Netherlands; Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen 6525 GA, the Netherlands., Krahn KN; UVA Center for Advanced Medical Analytics, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA., Buckley MF; New South Wales Health Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Lidral AC; Lidral Orthodontics, Rockford, MI 49341, USA., Roscioli T; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia; Prince of Wales Clinical School, University of New South Wales, Randwick, NSW 2031, Australia; Neuroscience Research Australia, Sydney, NSW 2031, Australia. Electronic address: tony.roscioli@health.nsw.gov.au.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Jun 07; Vol. 102 (6), pp. 1143-1157. Date of Electronic Publication: 2018 May 24.

Inducible 70 kDa heat shock proteins protect embryos from teratogen-induced exencephaly: Analysis using Hspa1a/a1b knockout mice.

Autor: Barrier M; Birth Defects Research Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington, Seattle, Washington, USA. barrier.marianne@epa.gov, Dix DJ, Mirkes PE

Publikováno v: Birth defects research. Part A, Clinical and molecular teratology [Birth Defects Res A Clin Mol Teratol] 2009 Aug; Vol. 85 (8), pp. 732-40.