Shinya Yamamoto Department of Molecular and Human Genetics Baylor College of Medicine Biography Publications Institution JoVE Articles Shinya Yamamoto has not added a biography. If you are Shinya Yamamoto and would like to personalize this page please email our Author Liaison for assistance. Publications De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia American Journal of Human Genetics. Aug, 2019 | Pubmed ID: 31327508 The Fruit Fly at the Interface of Diagnosis and Pathogenic Mechanisms of Rare and Common Human Diseases Human Molecular Genetics. Jun, 2019 | Pubmed ID: 31227826 Unweaving the Role of Nuclear Lamins in Neural Circuit Integrity Cell Stress. Sep, 2018 | Pubmed ID: 31223139 Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Frontiers in Genetics. 2018 | Pubmed ID: 30693015 Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease The New England Journal of Medicine. 11, 2018 | Pubmed ID: 30304647 Rapid and Integrative Discovery of Retina Regulatory Molecules Cell Reports. Aug, 2018 | Pubmed ID: 30157441 IRF2BPL Is Associated with Neurological Phenotypes American Journal of Human Genetics. 08, 2018 | Pubmed ID: 30057031 Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases Advances in Experimental Medicine and Biology. 2018 | Pubmed ID: 30030826 Functional Variants in TBX2 Are Associated with a Syndromic Cardiovascular and Skeletal Developmental Disorder Human Molecular Genetics. 07, 2018 | Pubmed ID: 29726930 A Gene-specific Library for ELife. 03, 2018 | Pubmed ID: 29565247 Biallelic Mutations in ATP5F1D, Which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder American Journal of Human Genetics. Mar, 2018 | Pubmed ID: 29478781 Pleiotropic Neuropathological and Biochemical Alterations Associated with Myo5a Mutation in a Rat Model Brain Research. 01, 2018 | Pubmed ID: 29217155 Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research Genetics. 09, 2017 | Pubmed ID: 28874452 Clinically Severe CACNA1A Alleles Affect Synaptic Function and Neurodegeneration Differentially PLoS Genetics. Jul, 2017 | Pubmed ID: 28742085 Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes Genetics. Jul, 2017 | Pubmed ID: 28512187 MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome American Journal of Human Genetics. Jun, 2017 | Pubmed ID: 28502612 Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes MTORC1 Activation and Neurodegeneration Neuron. Jan, 2017 | Pubmed ID: 28017472 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 American Journal of Human Genetics. Jan, 2017 | Pubmed ID: 28017372 Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease PLoS Genetics. Oct, 2016 | Pubmed ID: 27764101 Loss of Frataxin Induces Iron Toxicity, Sphingolipid Synthesis, and Pdk1/Mef2 Activation, Leading to Neurodegeneration ELife. 06, 2016 | Pubmed ID: 27343351 Ubr3, a Novel Modulator of Hh Signaling Affects the Degradation of Costal-2 and Kif7 Through Poly-ubiquitination PLoS Genetics. 05, 2016 | Pubmed ID: 27195754 WAC Regulates MTOR Activity by Acting As an Adaptor for the TTT and Pontin/Reptin Complexes Developmental Cell. Jan, 2016 | Pubmed ID: 26812014 Morgan's Legacy: Fruit Flies and the Functional Annotation of Conserved Genes Cell. Sep, 2015 | Pubmed ID: 26406362 Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress PLoS Biology. Jul, 2015 | Pubmed ID: 26176594 A Voltage-gated Calcium Channel Regulates Lysosomal Fusion with Endosomes and Autophagosomes and is Required for Neuronal Homeostasis PLoS Biology. Mar, 2015 | Pubmed ID: 25811491 Fruit Flies in Biomedical Research Genetics. Mar, 2015 | Pubmed ID: 25624315 Glial Lipid Droplets and ROS Induced by Mitochondrial Defects Promote Neurodegeneration Cell. Jan, 2015 | Pubmed ID: 25594180 Mitochondrial Fusion but Not Fission Regulates Larval Growth and Synaptic Development Through Steroid Hormone Production ELife. Oct, 2014 | Pubmed ID: 25313867 A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases Cell. Sep, 2014 | Pubmed ID: 25259927 Large-scale Identification of Chemically Induced Mutations in Drosophila Melanogaster Genome Research. Oct, 2014 | Pubmed ID: 25258387 Introduction to Notch Signaling Methods in Molecular Biology (Clifton, N.J.). 2014 | Pubmed ID: 25053477 The Retromer Complex is Required for Rhodopsin Recycling and Its Loss Leads to Photoreceptor Degeneration PLoS Biology. Apr, 2014 | Pubmed ID: 24781186 Dopamine Dynamics and Signaling in Drosophila: an Overview of Genes, Drugs and Behavioral Paradigms Experimental Animals. 2014 | Pubmed ID: 24770636 Shared Mechanisms Between Drosophila Peripheral Nervous System Development and Human Neurodegenerative Diseases Current Opinion in Neurobiology. Aug, 2014 | Pubmed ID: 24762652 Drosophila Tempura, a Novel Protein Prenyltransferase α Subunit, Regulates Notch Signaling Via Rab1 and Rab11 PLoS Biology. Jan, 2014 | Pubmed ID: 24492843 Protein Phosphatase 1ß Limits Ring Canal Constriction During Drosophila Germline Cyst Formation PloS One. 2013 | Pubmed ID: 23936219 Drosophila EHBP1 Regulates Scabrous Secretion During Notch-mediated Lateral Inhibition Journal of Cell Science. Aug, 2013 | Pubmed ID: 23788431 The C8ORF38 Homologue Sicily is a Cytosolic Chaperone for a Mitochondrial Complex I Subunit The Journal of Cell Biology. Mar, 2013 | Pubmed ID: 23509070 Crag is a GEF for Rab11 Required for Rhodopsin Trafficking and Maintenance of Adult Photoreceptor Cells PLoS Biology. 2012 | Pubmed ID: 23226104 A Mutation in EGF Repeat-8 of Notch Discriminates Between Serrate/Jagged and Delta Family Ligands Science (New York, N.Y.). Nov, 2012 | Pubmed ID: 23197537 DEHBP1 Controls Exocytosis and Recycling of Delta During Asymmetric Divisions The Journal of Cell Biology. Jan, 2012 | Pubmed ID: 22213802 Endocytosis and Intracellular Trafficking of Notch and Its Ligands Current Topics in Developmental Biology. 2010 | Pubmed ID: 20816395 Sequoia Regulates Cell Fate Decisions in the External Sensory Organs of Adult Drosophila EMBO Reports. Jun, 2009 | Pubmed ID: 19444309 Estudo funcional in vivo de variantes humanas raras associadas à doença usando Drosophila J. Michael Harnish*1, Samantha L. Deal*2, Hsiao-Tuan Chao1,3,4,5, Michael F. Wangler1,2,4, Shinya Yamamoto1,2,4,5 1Department of Molecular and Human Genetics, Baylor College of Medicine, 2Program in Developmental Biology, Baylor College of Medicine, 3Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Neuroscience, Baylor College of Medicine JoVE 59658 Genetics Navegando MARRVEL, uma ferramenta baseada na Web que integra genômica humana e modelo organismo genética informações Julia Wang1,2, Zhandong Liu3,4, Hugo J. Bellen1,4,5,6,7, Shinya Yamamoto1,4,5,6 1Program in Developmental Biology, Baylor College of Medicine, 2Medical Scientist Training Program, Baylor College of Medicine, 3Department of Pediatrics, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Molecular and Human Genetics, Baylor College of Medicine, 6Department of Neuroscience, Baylor College of Medicine, 7Howard Hughes Medical Institute, Baylor College of Medicine JoVE 59542 Genetics
Estudo funcional in vivo de variantes humanas raras associadas à doença usando Drosophila J. Michael Harnish*1, Samantha L. Deal*2, Hsiao-Tuan Chao1,3,4,5, Michael F. Wangler1,2,4, Shinya Yamamoto1,2,4,5 1Department of Molecular and Human Genetics, Baylor College of Medicine, 2Program in Developmental Biology, Baylor College of Medicine, 3Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Neuroscience, Baylor College of Medicine JoVE 59658 Genetics
Navegando MARRVEL, uma ferramenta baseada na Web que integra genômica humana e modelo organismo genética informações Julia Wang1,2, Zhandong Liu3,4, Hugo J. Bellen1,4,5,6,7, Shinya Yamamoto1,4,5,6 1Program in Developmental Biology, Baylor College of Medicine, 2Medical Scientist Training Program, Baylor College of Medicine, 3Department of Pediatrics, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Molecular and Human Genetics, Baylor College of Medicine, 6Department of Neuroscience, Baylor College of Medicine, 7Howard Hughes Medical Institute, Baylor College of Medicine JoVE 59542 Genetics
