Heidi Dorward

Heidi Dorward

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Heidi Dorward

Heidi Dorward

Publications by authors named "Heidi Dorward"

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 Jun 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2017 02;88(7):e57-e65

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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http://dx.doi.org/10.1212/WNL.0000000000003622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584077PMC
February 2017

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2016 04 4;86(14):1320-1328. Epub 2016 Mar 4.

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., A.R.C., S.G.Z., D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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http://dx.doi.org/10.1212/WNL.0000000000002551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826336PMC
April 2016

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Mol Genet Metab 2015 Jan 12;114(1):62-5. Epub 2014 Nov 12.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279856PMC
January 2015

Two novel compound heterozygous mutations in in two siblings with OPA3-related 3-methylglutaconic aciduria.

Mol Genet Metab Rep 2014 Jan;1:114-123

Medical Genetics 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.ymgmr.2014.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987911PMC
January 2014

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Mol Genet Metab 2012 Dec 18;107(4):748-55. Epub 2012 Oct 18.

Medical Genetics 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.ymgme.2012.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504164PMC
December 2012

Cellular and clinical report of new Griscelli syndrome type III cases.

Pigment Cell Melanoma Res 2012 Jan 3;25(1):47-56. Epub 2011 Oct 3.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda MD, USA.

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http://dx.doi.org/10.1111/j.1755-148X.2011.00901.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3265394PMC
January 2012

A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Am J Hum Genet 2011 Jun;88(6):778-787

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Intramural Office of Rare Diseases Research, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113249PMC
June 2011

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.

Mol Genet Metab 2011 May 3;103(1):44-50. Epub 2011 Feb 3.

NIH Undiagnosed Diseases Program, Office of Rare Disease Research and National Human Genome Research Institute and NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.01.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081917PMC
May 2011

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Mol Genet Metab 2010 Sep 10;101(1):62-5. Epub 2010 Jun 10.

Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922439PMC
September 2010

Activation of hormone-sensitive lipase requires two steps, protein phosphorylation and binding to the PAT-1 domain of lipid droplet coat proteins.

J Biol Chem 2009 Nov 29;284(46):32116-25. Epub 2009 Aug 29.

Geriatric Research, Education, and Clinical Center, Baltimore Veterans Affairs Health Care Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.

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http://dx.doi.org/10.1074/jbc.M109.006726DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797282PMC
November 2009

Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.

J Invest Dermatol 2007 Jun 15;127(6):1471-8. Epub 2007 Feb 15.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-1851, USA.

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http://dx.doi.org/10.1038/sj.jid.5700737DOI Listing
June 2007

Post-translational regulation of adipose differentiation-related protein by the ubiquitin/proteasome pathway.

J Biol Chem 2005 Dec 22;280(52):42841-7. Epub 2005 Aug 22.

Department of Physiology and Pathophysiology, Health Science Center of Peking University and Key Laboratory of Molecular Cardiovascular Sciences, Ministry of Education, Beijing 100083, China.

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http://dx.doi.org/10.1074/jbc.M506569200DOI Listing
December 2005

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.

BMC Cell Biol 2005 Sep 13;6:33. Epub 2005 Sep 13.

Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/1471-2121-6-33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1249560PMC
September 2005

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Traffic 2004 Sep;5(9):711-22

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/j.1600-0854.2004.00208.xDOI Listing
September 2004

Developmental expression and subcellular localization of mouse MATER, an oocyte-specific protein essential for early development.

Endocrinology 2004 Mar 11;145(3):1427-34. Epub 2003 Dec 11.

Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1862, USA.

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https://academic.oup.com/endo/article-lookup/doi/10.1210/en.
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http://dx.doi.org/10.1210/en.2003-1160DOI Listing
March 2004

Mutation of a conserved hydrophobic patch prevents incorporation of ZP3 into the zona pellucida surrounding mouse eggs.

Mol Cell Biol 2003 Dec;23(24):8982-91

Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney Diseases/National Institutes of Health, Building 50, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC309620PMC
http://dx.doi.org/10.1128/mcb.23.24.8982-8991.2003DOI Listing
December 2003

Perilipin A is essential for the translocation of hormone-sensitive lipase during lipolytic activation.

J Cell Biol 2003 Jun 16;161(6):1093-103. Epub 2003 Jun 16.

Laboratory of Cellular and Developmental Biology, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-2715, USA.

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http://dx.doi.org/10.1083/jcb.200210169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172984PMC
June 2003