William J Pavan

William J Pavan

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William J Pavan

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MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells.

Epigenetics Chromatin 2019 Aug 9;12(1):50. Epub 2019 Aug 9.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1186/s13072-019-0297-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6688322PMC
August 2019

Melanoma to Vitiligo: The Melanocyte in Biology & Medicine-Joint Montagna Symposium on the Biology of Skin/PanAmerican Society for Pigment Cell Research Annual Meeting.

J Invest Dermatol 2019 Jul 23. Epub 2019 Jul 23.

Department of Dermatology, Oregon Health & Science University, Portland, Oregon, USA; Knight Cancer Institute, Oregon Health & Science University, Portland, Oregon, USA; Department of Cell, Developmental & Cancer Biology, Oregon Health & Science University, Portland, Oregon, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.03.1164DOI Listing
July 2019

A curated gene list for expanding the horizons of pigmentation biology.

Pigment Cell Melanoma Res 2019 05 6;32(3):348-358. Epub 2018 Nov 6.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1111/pcmr.12743
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http://dx.doi.org/10.1111/pcmr.12743DOI Listing
May 2019

The Genetics of Human Skin and Hair Pigmentation.

Annu Rev Genomics Hum Genet 2019 May 17. Epub 2019 May 17.

Dermatology Research Centre, The University of Queensland Diamantina Institute, Brisbane, Queensland 4102, Australia; email:

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http://dx.doi.org/10.1146/annurev-genom-083118-015230DOI Listing
May 2019

Identification of Gene Variants Associated with Melanocyte Stem Cell Differentiation in Mice Predisposed for Hair Graying.

G3 (Bethesda) 2019 03 7;9(3):817-827. Epub 2019 Mar 7.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD

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http://dx.doi.org/10.1534/g3.118.200965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404613PMC
March 2019

Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes.

Genome Res 2018 11 17;28(11):1621-1635. Epub 2018 Oct 17.

Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://genome.cshlp.org/lookup/doi/10.1101/gr.233304.117
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http://dx.doi.org/10.1101/gr.233304.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211648PMC
November 2018

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for screening of candidate therapeutic compounds.

Dis Model Mech 2018 08 15;11(9). Epub 2018 Aug 15.

Section on Molecular Dysmorphology, Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA

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http://dx.doi.org/10.1242/dmm.034165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176986PMC
August 2018

A direct link between MITF, innate immunity, and hair graying.

PLoS Biol 2018 05 3;16(5):e2003648. Epub 2018 May 3.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.2003648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933715PMC
May 2018

In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin.

Gene 2018 Feb 6;643:117-123. Epub 2017 Dec 6.

Department of Pediatrics, University of Arizona College of Medicine, Tucson, AZ 85724-5073, United States. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.12.006DOI Listing
February 2018

Identification and functional analysis of SOX10 phosphorylation sites in melanoma.

PLoS One 2018 9;13(1):e0190834. Epub 2018 Jan 9.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0190834PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760019PMC
February 2018

BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation.

Nucleic Acids Res 2017 Jun;45(11):6442-6458

Department of Biochemistry and Cancer Biology, University of Toledo College of Medicine and Life Sciences, 3035 Arlington Ave, Toledo, OH 43614, USA.

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http://dx.doi.org/10.1093/nar/gkx259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499657PMC
June 2017

Hypoxia-induced HIF1α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis.

Pigment Cell Melanoma Res 2017 05 19;30(3):339-352. Epub 2017 Apr 19.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/pcmr.12579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411287PMC
May 2017

TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.

PLoS Genet 2017 03 1;13(3):e1006636. Epub 2017 Mar 1.

Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352137PMC
March 2017

Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration Pronuclear Injection.

G3 (Bethesda) 2017 02 9;7(2):719-722. Epub 2017 Feb 9.

Translational and Functional Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892

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http://dx.doi.org/10.1534/g3.116.038091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295614PMC
February 2017

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.

Hum Mol Genet 2017 01;26(1):52-64

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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http://hmg.oxfordjournals.org/content/early/2016/10/24/hmg.d
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http://dx.doi.org/10.1093/hmg/ddw367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075521PMC
January 2017

Glial-cell-derived neuroregulators control type 3 innate lymphoid cells and gut defence.

Nature 2016 07 13;535(7612):440-443. Epub 2016 Jul 13.

Instituto de Medicina Molecular, Faculdade de Medicina de Lisboa, Av. Prof. Egas Moniz, Edifício Egas Moniz, 1649-028 Lisboa, Portugal.

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http://dx.doi.org/10.1038/nature18644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962913PMC
July 2016

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.

Nat Med 2016 Apr 21;22(4):388-96. Epub 2016 Mar 21.

Program in Developmental Endocrinology and Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/nm.4067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823163PMC
April 2016

The transcription factors Ets1 and Sox10 interact during murine melanocyte development.

Dev Biol 2015 Nov 23;407(2):300-12. Epub 2015 Apr 23.

Department of Biological Sciences, Florida International University, Miami, FL, USA; Biomolecular Sciences Institute, Florida International University, Miami, FL. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2015.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618791PMC
November 2015

Ectopic differentiation of melanocyte stem cells is influenced by genetic background.

Pigment Cell Melanoma Res 2015 Mar 5;28(2):223-8. Epub 2015 Jan 5.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/pcmr.12344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333083PMC
March 2015

Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling.

Stem Cells Transl Med 2015 Mar 30;4(3):230-8. Epub 2015 Jan 30.

National Institute of Arthritis and Musculoskeletal and Skin Diseases, NeuroTherapeutics Development Unit, National Institute for Neurological Diseases and Stroke, Genetic Disease Research Branch, National Human Genome Research Institute, Eunice Kennedy Shriver National Institute for Child Health and Human Development, and Center for Regenerative Medicine, National Institutes of Health, Bethesda, Maryland, USA

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http://dx.doi.org/10.5966/sctm.2014-0127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339848PMC
March 2015

Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A.

Pigment Cell Melanoma Res 2014 Sep 27;27(5):777-87. Epub 2014 May 27.

Genetic Disease Research Branch, Department of Health and Human Services, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/pcmr.12255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150815PMC
September 2014

Axing the cancer loop.

Pigment Cell Melanoma Res 2014 Sep 3;27(5):691-3. Epub 2014 Jul 3.

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http://dx.doi.org/10.1111/pcmr.12286DOI Listing
September 2014

A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice.

Dev Neurobiol 2014 May 9;74(5):483-97. Epub 2014 Jan 9.

Department of Pediatrics and Graduate Program in Molecular Biology, Howard Hughes Medical Institute, University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, Colorado, 80045.

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http://dx.doi.org/10.1002/dneu.22142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670623PMC
May 2014

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

Mol Genet Metab 2013 Sep-Oct;110(1-2):188-90. Epub 2013 Jun 21.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.06.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3775472PMC
March 2014

The etiology and molecular genetics of human pigmentation disorders.

Wiley Interdiscip Rev Dev Biol 2013 May-Jun;2(3):379-92. Epub 2012 May 17.

Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/wdev.72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694277PMC
January 2014

A dual role for SOX10 in the maintenance of the postnatal melanocyte lineage and the differentiation of melanocyte stem cell progenitors.

PLoS Genet 2013 25;9(7):e1003644. Epub 2013 Jul 25.

Genetic Disease Research Branch, National Human Genome Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3723529PMC
January 2014

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

Hum Mol Genet 2013 Sep 10;22(17):3508-23. Epub 2013 May 10.

Department of Health and Human Services, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://hmg.oxfordjournals.org/content/early/2013/05/09/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddt206
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http://dx.doi.org/10.1093/hmg/ddt206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736870PMC
September 2013

SOX10 ablation arrests cell cycle, induces senescence, and suppresses melanomagenesis.

Cancer Res 2013 Sep 1;73(18):5709-18. Epub 2013 Aug 1.

Authors' Affiliations: Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland; Maryland Melanoma Center at Medstar Franklin Square Medical Center, Baltimore, Maryland; Department of Dermatology, University Hospital of Zurich, Zurich, Switzerland; Queensland Institute of Medical Research, Oncogenomics Laboratory, Brisbane, Australia; and Helen Diller Family Comprehensive Cancer Center, UCSF, San Francisco, CA.

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http://dx.doi.org/10.1158/0008-5472.CAN-12-4620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3803156PMC
September 2013

Postnatal lineage mapping of follicular melanocytes with the Tyr::CreER(T) (2) transgene.

Pigment Cell Melanoma Res 2013 Mar 20;26(2):269-74. Epub 2012 Dec 20.

Genetic Disease Research Branch, National Human Genome Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/pcmr.12048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034131PMC
March 2013

The EJC component Magoh regulates proliferation and expansion of neural crest-derived melanocytes.

Dev Biol 2013 Mar 18;375(2):172-81. Epub 2013 Jan 18.

Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ydbio.2013.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710740PMC
March 2013

Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes.

Genome Res 2012 Nov 27;22(11):2290-301. Epub 2012 Sep 27.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1101/gr.139360.112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483558PMC
November 2012

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Hum Mol Genet 2012 Aug 22;21(16):3632-46. Epub 2012 May 22.

Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, US Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/dds193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406758PMC
August 2012

Specification of neural crest into sensory neuron and melanocyte lineages.

Dev Biol 2012 Jun 10;366(1):55-63. Epub 2012 Mar 10.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ydbio.2012.02.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351495PMC
June 2012

Plasma and tissue concentrations of α-tocopherol and δ-tocopherol following high dose dietary supplementation in mice.

Nutrients 2012 06 6;4(6):467-90. Epub 2012 Jun 6.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/nu4060467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397347PMC
June 2012

The melanomas: a synthesis of epidemiological, clinical, histopathological, genetic, and biological aspects, supporting distinct subtypes, causal pathways, and cells of origin.

Pigment Cell Melanoma Res 2011 Oct 16;24(5):879-97. Epub 2011 Aug 16.

Cancer Control Group, Queensland Institute of Medical Research, Brisbane, Qld, Australia.

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http://dx.doi.org/10.1111/j.1755-148X.2011.00880.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395885PMC
October 2011

Networks and pathways in pigmentation, health, and disease.

Wiley Interdiscip Rev Syst Biol Med 2009 Nov-Dec;1(3):359-371

Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/wsbm.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2804986PMC
January 2011

Oxidative stress in Niemann-Pick disease, type C.

Mol Genet Metab 2010 Oct-Nov;101(2-3):214-8. Epub 2010 Jul 27.

Program in Developmental Endocrinology and Genetics, NICHD, NIH, DHHS, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2950258PMC
January 2011

A curated online resource for SOX10 and pigment cell molecular genetic pathways.

Database (Oxford) 2010 Oct 25;2010:baq025. Epub 2010 Oct 25.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/database/baq025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975454PMC
October 2010

Sox proteins in melanocyte development and melanoma.

Pigment Cell Melanoma Res 2010 Aug 22;23(4):496-513. Epub 2010 Apr 22.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/j.1755-148X.2010.00711.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2906668PMC
August 2010

The exon junction complex component Magoh controls brain size by regulating neural stem cell division.

Nat Neurosci 2010 May 4;13(5):551-8. Epub 2010 Apr 4.

Genetic Disease Research Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/nn.2527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860667PMC
May 2010

Melanocytes don't always take the high road.

Pigment Cell Melanoma Res 2010 Feb 17;23(1):11-3. Epub 2009 Dec 17.

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http://dx.doi.org/10.1111/j.1755-148X.2009.00665.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3389829PMC
February 2010

NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation.

Pigment Cell Melanoma Res 2009 Dec 30;22(6):773-84. Epub 2009 Jul 30.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://doi.wiley.com/10.1111/j.1755-148X.2009.00616.x
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http://dx.doi.org/10.1111/j.1755-148X.2009.00616.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3023175PMC
December 2009

Comparison of melanoblast expression patterns identifies distinct classes of genes.

Pigment Cell Melanoma Res 2009 Oct 26;22(5):611-22. Epub 2009 May 26.

National Institutes of Health, National Human Genome Research Institute, Genetic Disease Research Branch, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/j.1755-148X.2009.00584.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007121PMC
October 2009

Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf?

Cell Res 2008 Dec;18(12):1163-76

State Key Laboratory Cultivation Base and Key Laboratory of Vision Science of China Ministry of Health, Eye Hospital, Wenzhou Medical College, 270 Xueyuan Road, Wenzhou, Zhejiang 325003, China.

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http://dx.doi.org/10.1038/cr.2008.303DOI Listing
December 2008

An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10.

BMC Dev Biol 2008 Oct 26;8:105. Epub 2008 Oct 26.

Centre for Regenerative Medicine, Department of Biology and Biochemistry, University of Bath, Bath, BA2 7AY, UK.

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http://dx.doi.org/10.1186/1471-213X-8-105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601039PMC
October 2008

Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.

PLoS Genet 2008 Sep 5;4(9):e1000174. Epub 2008 Sep 5.

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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https://dx.plos.org/10.1371/journal.pgen.1000174
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http://dx.doi.org/10.1371/journal.pgen.1000174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518861PMC
September 2008

A Sox10 expression screen identifies an amino acid essential for Erbb3 function.

PLoS Genet 2008 Sep 5;4(9):e1000177. Epub 2008 Sep 5.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518866PMC
September 2008

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.

Hum Mol Genet 2008 Jul 7;17(14):2118-31. Epub 2008 Apr 7.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddn110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902284PMC
July 2008

The secreted metalloprotease ADAMTS20 is required for melanoblast survival.

PLoS Genet 2008 Feb 29;4(2):e1000003. Epub 2008 Feb 29.

Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1000003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265537PMC
February 2008

Genomic copy number and expression variation within the C57BL/6J inbred mouse strain.

Genome Res 2008 Jan 21;18(1):60-6. Epub 2007 Nov 21.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://genome.cshlp.org/content/early/2007/11/21/gr.6927808.
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http://www.genome.org/cgi/doi/10.1101/gr.6927808
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http://dx.doi.org/10.1101/gr.6927808DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2134784PMC
January 2008

Stem cells of the melanocyte lineage.

Cancer Biomark 2007 ;3(4-5):203-9

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, MD 20892-4472, USA.

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November 2007

Informatic and genomic analysis of melanocyte cDNA libraries as a resource for the study of melanocyte development and function.

Pigment Cell Res 2007 Jun;20(3):201-9

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20855, USA.

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http://dx.doi.org/10.1111/j.1600-0749.2007.00372.xDOI Listing
June 2007

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.

Pigment Cell Res 2007 Jun;20(3):210-5

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20855, USA.

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http://dx.doi.org/10.1111/j.1600-0749.2007.00371.xDOI Listing
June 2007

The genetic regulation of pigment cell development.

Adv Exp Med Biol 2006 ;589:155-69

Genetic Diseases Branch, NHGRI, NIH, Room 4A51, Bldg. 49, 49 Convent Drive, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1007/978-0-387-46954-6_9DOI Listing
November 2006

Interspecies difference in the regulation of melanocyte development by SOX10 and MITF.

Proc Natl Acad Sci U S A 2006 Jun 6;103(24):9081-5. Epub 2006 Jun 6.

*Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.0603114103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1482569PMC
June 2006

Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage.

Mech Dev 2006 Feb 18;123(2):124-34. Epub 2006 Jan 18.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.

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http://dx.doi.org/10.1016/j.mod.2005.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1373669PMC
February 2006

Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome.

Hum Mol Genet 2006 Jan 5;15(2):259-71. Epub 2005 Dec 5.

Geome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddi442DOI Listing
January 2006

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

Am J Hum Genet 2006 Jan 21;78(1):137-43. Epub 2005 Nov 21.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health (NIH), Rockville, MD 20850, USA.

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http://dx.doi.org/10.1086/499164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380211PMC
January 2006

Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency.

PLoS Genet 2005 Sep;1(3):e38

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1371/journal.pgen.0010038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1231717PMC
September 2005

WNT1 and WNT3a promote expansion of melanocytes through distinct modes of action.

Pigment Cell Res 2005 Jun;18(3):167-80

Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.

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http://dx.doi.org/10.1111/j.1600-0749.2005.00226.xDOI Listing
June 2005

Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development.

Development 2004 Jul 16;131(14):3239-47. Epub 2004 Jun 16.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.

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http://dx.doi.org/10.1242/dev.01193DOI Listing
July 2004

Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders.

Pigment Cell Res 2004 Jun;17(3):215-24

Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1111/j.1600-0749.2004.00147.xDOI Listing
June 2004

Complementation of melanocyte development in SOX10 mutant neural crest using lineage-directed gene transfer.

Dev Dyn 2004 Jan;229(1):54-62

Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://doi.wiley.com/10.1002/dvdy.10468
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http://dx.doi.org/10.1002/dvdy.10468DOI Listing
January 2004

Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development.

Gene Expr Patterns 2003 Dec;3(6):703-7

Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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December 2003

A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation.

Development 2003 Oct;130(19):4665-72

Genetics Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02476, USA.

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http://dx.doi.org/10.1242/dev.00668DOI Listing
October 2003

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia.

Oncogene 2003 May;22(20):3024-34

National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Bethesda, MD 20892-4472, USA.

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http://dx.doi.org/10.1038/sj.onc.1206442DOI Listing
May 2003

Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene.

Hum Mol Genet 2002 Nov;11(24):3107-14

National Human Genome Research Institute, Genetic Disease Research Branch, National Institutes of Health, 49 Convent Drive, Building 49, Bethesda, MD 20892, USA.

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http://hmg.oxfordjournals.org/content/11/24/3107.full.pdf
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http://dx.doi.org/10.1093/hmg/11.24.3107DOI Listing
November 2002

The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development.

Mech Dev 2002 Aug;116(1-2):209-12

Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49, Convent Drive, Building 49, Room 4A82, Bethesda, MD 20892-4472, USA.

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August 2002

Mutation of melanosome protein RAB38 in chocolate mice.

Proc Natl Acad Sci U S A 2002 Apr 26;99(7):4471-6. Epub 2002 Mar 26.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.072087599
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http://dx.doi.org/10.1073/pnas.072087599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC123672PMC
April 2002