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The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.

Autor: Watkins-Chow DE; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Incao AA; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Rivas C; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Elliott G; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Garrett LJ; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Pavan WJ; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2024 Mar; Vol. 37 (2), pp. 259-264. Date of Electronic Publication: 2023 Oct 24.

Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition.

Autor: Berns HM; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Headington, Oxford, OX3 7DQ, UK., Watkins-Chow DE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Lu S; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Headington, Oxford, OX3 7DQ, UK., Louphrasitthiphol P; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Headington, Oxford, OX3 7DQ, UK.; Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Zhang T; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, 13 USA., Brown KM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, 13 USA., Moura-Alves P; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Headington, Oxford, OX3 7DQ, UK.; i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, PT.; IBMC-Instituto de Biologia Molecular e Celular, Universidade do Porto, 4200-135 Porto, PT., Goding CR; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Headington, Oxford, OX3 7DQ, UK., Pavan WJ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Mar 13. Date of Electronic Publication: 2023 Mar 13.

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.

Autor: Rodriguez-Gil JL; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Medical Scientist Training Program, University of Wisconsin-Madison, School of Medicine and Public Health, Madison, WI 53705, USA., Baxter LL; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Watkins-Chow DE; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Johnson NL; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Davidson CD; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Carlson SR; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Incao AA; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Wallom KL; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK., Farhat NY; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Platt FM; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK., Dale RK; Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Pavan WJ; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2021 Nov 30; Vol. 30 (24), pp. 2456-2468.