Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Autorzy:
Baxter LL; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Watkins-ChowDE; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 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, USA. Farhat NY; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Platt FM; Department of Pharmacology, University of Oxford, Oxford, 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, USA. Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. Pavan WJ; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. . Rodriguez-Gil JL; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. .; Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA. .; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2022 Feb 09; Vol. 12 (1), pp. 2162. Date of Electronic Publication: 2022 Feb 09.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.
Autorzy:
Rodriguez-Gil JL; Genomics, Development and Disease Section, Genetic Disease Research Branch, NHGRI, NIH, Bethesda, MD, 20892, USA.; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK.; Medical Scientist Training Program, University of Wisconsin-Madison School of Medicine and Public Health, Madison, WI, 53726, USA. Watkins-ChowDE; Genomics, Development and Disease Section, Genetic Disease Research Branch, NHGRI, NIH, Bethesda, MD, 20892, USA. Baxter LL; Genomics, Development and Disease Section, Genetic Disease Research Branch, NHGRI, NIH, Bethesda, MD, 20892, USA. Yokoyama T; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NHGRI, NIH, Bethesda, MD, 20892, USA. Zerfas PM; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, MD, 20892, USA. Starost MF; Office of Research Services, Division of Veterinary Resources, NIH, Bethesda, MD, 20892, USA. Gahl WA; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NHGRI, NIH, Bethesda, MD, 20892, USA. Malicdan MCV; Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NHGRI, NIH, Bethesda, MD, 20892, USA. Porter FD; Program in Developmental Endocrinology and Genetics, NICHD, NIH, Bethesda, MD, 20892, USA. Platt FM; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK. Pavan WJ; Genomics, Development and Disease Section, Genetic Disease Research Branch, NHGRI, NIH, Bethesda, MD, 20892, USA.
A curated gene list for expanding the horizons of pigmentation biology.
Autorzy:
Baxter LL; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. Watkins-ChowDE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. Pavan WJ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. Loftus SK; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
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Źródło:
Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2019 May; Vol. 32 (3), pp. 348-358. Date of Electronic Publication: 2018 Nov 06.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Review
Identification of Gene Variants Associated with Melanocyte Stem Cell Differentiation in Mice Predisposed for Hair Graying.
Autorzy:
Fialkowski AC; Department of Biostatistics. Levy DJ; University of Alabama at Birmingham, Birmingham, AL, and. Watkins-ChowDE; University of Alabama at Birmingham, Birmingham, AL, and. Palmer JW; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. Darji R; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD. Tiwari HK; Department of Biostatistics. Pavan WJ; University of Alabama at Birmingham, Birmingham, AL, and. Harris ML; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2019 Mar 07; Vol. 9 (3), pp. 817-827. Date of Electronic Publication: 2019 Mar 07.
Loci associated with skin pigmentation identified in African populations.
Autorzy:
Crawford NG; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Kelly DE; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Genomics and Computational Biology Graduate Program, University of Pennsylvania, Philadelphia, PA 19104, USA. Hansen MEB; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Beltrame MH; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Fan S; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Bowman SL; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA.; Department of Pathology and Laboratory Medicine and Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Jewett E; Department of Electrical Engineering and Computer Sciences, University of California, Berkeley, Berkeley, CA 94704, USA.; Department of Statistics, University of California, Berkeley, Berkeley, CA 94704, USA. Ranciaro A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Thompson S; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Lo Y; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Pfeifer SP; School of Life Sciences, Arizona State University, Tempe, AZ 85287, USA. Jensen JD; School of Life Sciences, Arizona State University, Tempe, AZ 85287, USA. Campbell MC; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Biology, Howard University, Washington, DC 20059, USA. Beggs W; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Hormozdiari F; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Mpoloka SW; Department of Biological Sciences, University of Botswana, Gaborone, Botswana. Mokone GG; Department of Biomedical Sciences, University of Botswana School of Medicine, Gaborone, Botswana. Nyambo T; Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania. Meskel DW; Department of Biology, Addis Ababa University, Addis Ababa, Ethiopia. Belay G; Department of Biology, Addis Ababa University, Addis Ababa, Ethiopia. Haut J; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Rothschild H; Stem Cell Program, Division of Hematology and Oncology, Pediatric Hematology Program, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA. Zon L; Stem Cell Program, Division of Hematology and Oncology, Pediatric Hematology Program, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.; Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA. Zhou Y; Stem Cell Program, Division of Hematology and Oncology, Pediatric Hematology Program, Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA. Kovacs MA; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. Xu M; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. Zhang T; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. Bishop K; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Sinclair J; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Rivas C; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Elliot E; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Choi J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. Li SA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.; Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., Frederick, MD 21701, USA. Hicks B; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.; Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., Frederick, MD 21701, USA. Burgess S; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Abnet C; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA. Watkins-ChowDE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Oceana E; Department of Molecular Pharmacology, Physiology and Biotechnology, Brown University, Providence, RI 02912, USA. Song YS; Department of Electrical Engineering and Computer Sciences, University of California, Berkeley, Berkeley, CA 94704, USA.; Department of Statistics, University of California, Berkeley, Berkeley, CA 94704, USA.; Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.; Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Mathematics, University of Pennsylvania, Philadelphia, PA 19104, USA. Eskin E; Department of Computer Science and Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA. Brown KM; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA. Marks MS; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA.; Department of Pathology and Laboratory Medicine and Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Loftus SK; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Pavan WJ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Yeager M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA.; Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., Frederick, MD 21701, USA. Chanock S; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD 20892, USA. Tishkoff SA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. .; Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA 19104, USA.
Science (New York, N.Y.) [Science] 2017 Nov 17; Vol. 358 (6365). Date of Electronic Publication: 2017 Oct 12.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration Pronuclear Injection.
Autorzy:
Watkins-ChowDE; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892. Varshney GK; Functional and Chemical Genomics Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma 73104. Garrett LJ; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892. Chen Z; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892. Jimenez EA; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892. Rivas C; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892. Bishop KS; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892. Sood R; Zebrafish Core, Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892. Harper UL; Genomics Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892. Pavan WJ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 . Burgess SM; Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 .
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2017 Feb 09; Vol. 7 (2), pp. 719-722. Date of Electronic Publication: 2017 Feb 09.
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