Andrew Cullinane

Andrew Cullinane

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Andrew Cullinane

Andrew Cullinane

Publications by authors named "Andrew Cullinane"

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CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Am J Med Genet A 2017 Mar 4;173(3):661-666. Epub 2017 Jan 4.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38005DOI Listing
March 2017

Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.

Br J Haematol 2017 Jan 21;176(1):118-123. Epub 2016 Oct 21.

Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.

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http://dx.doi.org/10.1111/bjh.14390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177518PMC
January 2017

Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

J Allergy Clin Immunol 2016 Apr 21;137(4):1165-1177. Epub 2015 Oct 21.

Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.08.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826811PMC
April 2016

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

A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.

Int J Dermatol 2016 Mar 24;55(3):317-21. Epub 2015 Oct 24.

Division of Genetics, Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1111/ijd.13019DOI Listing
March 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

Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

Exp Cell Res 2013 Sep 26;319(15):2360-7. Epub 2013 Jun 26.

Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD 20852, USA.

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http://dx.doi.org/10.1016/j.yexcr.2013.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759575PMC
September 2013

The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

Traffic 2013 Jul 24;14(7):749-66. Epub 2013 Apr 24.

Medical Genetics 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/10.1111/tra.12069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3761935PMC
July 2013

Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.

Mov Disord 2013 Feb;28(2):127-9

Human Biochemical Genetics Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/mds.25386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581862PMC
February 2013

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Pigment Cell Melanoma Res 2012 Sep 2;25(5):584-91. Epub 2012 Aug 2.

Medical Genetics 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.2012.01029.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501949PMC
September 2012

The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.

Traffic 2012 Aug 28;13(8):1160-9. Epub 2012 May 28.

State Key Laboratory of Molecular and Developmental Biology, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China.

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http://dx.doi.org/10.1111/j.1600-0854.2012.01375.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800082PMC
August 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

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

Am J Med Genet A 2007 Dec;143A(23):2835-7

Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Kingdom of Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.32051
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.32051DOI Listing
December 2007