Robert Gruber

Robert Gruber

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Robert Gruber

Robert Gruber

Publications by authors named "Robert Gruber"

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Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.

J Dtsch Dermatol Ges 2020 Jan 23;18(1):17-25. Epub 2019 Oct 23.

Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1111/ddg.13968DOI Listing
January 2020

Spektrum der Ichthyosen in einer österreichischen Ichthyosekohorte von 2004-2007.

J Dtsch Dermatol Ges 2020 Jan;18(1):17-26

Universitätsklinik für Dermatologie, Venerologie und Allergologie, Medizinische Universität Innsbruck, Innsbruck, Österreich.

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http://dx.doi.org/10.1111/ddg.13968_gDOI Listing
January 2020

Induced pluripotent stem cell line heterozygous for p.R501X mutation in filaggrin: KCLi003-A.

Stem Cell Res 2019 08 7;39:101527. Epub 2019 Aug 7.

Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101527DOI Listing
August 2019

Journal-Club.

Authors:
Robert W Gruber

J Dtsch Dermatol Ges 2019 Aug;17(8):872

Innsbruck.

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http://dx.doi.org/10.1111/ddg.13877_gDOI Listing
August 2019

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

J Dtsch Dermatol Ges 2019 Jul 23;17(7):742-745. Epub 2019 Apr 23.

Department of Dermatology, Venerology and Allergology, Medical University of Innsbruck, Austria.

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http://dx.doi.org/10.1111/ddg.13843DOI Listing
July 2019

Induced pluripotent stem cell line heterozygous for p.R2447X mutation in filaggrin: KCLi002-A.

Stem Cell Res 2019 07 13;38:101462. Epub 2019 May 13.

Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101462DOI Listing
July 2019

Gestörte Hautbarriere bei zwei österreichischen Schwestern mit autosomal-rezessiver kongenitaler Ichthyose (ARCI) verursacht durch eine Missense-Mutation in SDR9C7.

J Dtsch Dermatol Ges 2019 Jul;17(7):742-745

Universitätsklinik für Dermatologie, Venerologie und Allergologie, Medizinische Universität Innsbruck, Österreich.

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http://dx.doi.org/10.1111/ddg.13843_gDOI Listing
July 2019

Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope.

J Invest Dermatol 2019 04 22;139(4):760-768. Epub 2018 Nov 22.

Dermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2018.11.005DOI Listing
April 2019

Filaggrin null mutations are associated with altered circulating Tregs in atopic dermatitis.

J Cell Mol Med 2019 02 4;23(2):1288-1299. Epub 2018 Dec 4.

Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1111/jcmm.14031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349342PMC
February 2019

Induced pluripotent stem cell line from an atopic dermatitis patient heterozygous for c.2282del4 mutation in filaggrin: KCLi001-A.

Stem Cell Res 2018 08 25;31:122-126. Epub 2018 Jul 25.

Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183018
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http://dx.doi.org/10.1016/j.scr.2018.07.014DOI Listing
August 2018

A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.

Int J Dermatol 2018 Feb 19;57(2):223-226. Epub 2017 Dec 19.

Department of Dermatology, Sozialmedizinisches Zentrum Ost (Donauspital), Vienna, Austria.

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http://dx.doi.org/10.1111/ijd.13862DOI Listing
February 2018

Enhanced Expression of Genes Related to Xenobiotic Metabolism in the Skin of Patients with Atopic Dermatitis but Not with Ichthyosis Vulgaris.

J Invest Dermatol 2018 01 9;138(1):98-108. Epub 2017 Sep 9.

Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173293
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http://dx.doi.org/10.1016/j.jid.2017.08.036DOI Listing
January 2018

Epidermal Overexpression of Xenobiotic Receptor PXR Impairs the Epidermal Barrier and Triggers Th2 Immune Response.

J Invest Dermatol 2018 01 18;138(1):109-120. Epub 2017 Sep 18.

Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.07.846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217923PMC
January 2018

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

J Invest Dermatol 2017 04 23;137(4):845-854. Epub 2016 Dec 23.

MRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5358661PMC
April 2017

Ustekinumab treatment in severe atopic dermatitis: Down-regulation of T-helper 2/22 expression.

J Am Acad Dermatol 2017 Jan 13;76(1):91-97.e3. Epub 2016 Oct 13.

Department of Dermatology, Division of Immunology, Allergy, and Infectious Diseases, Medical University of Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2016.07.047DOI Listing
January 2017

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

J Allergy Clin Immunol 2015 Nov 12;136(5):1268-76. Epub 2015 Jun 12.

Clinical Medicine, Trinity College Dublin, Dublin, Ireland; Pediatric Dermatology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4649901PMC
November 2015

Epidermal barrier in hereditary ichthyoses, atopic dermatitis, and psoriasis.

J Dtsch Dermatol Ges 2015 Nov;13(11):1119-23

Department of Dermatology and Venereology, University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1111/ddg.12827DOI Listing
November 2015

Diverse regulation of claudin-1 and claudin-4 in atopic dermatitis.

Am J Pathol 2015 Oct 28;185(10):2777-89. Epub 2015 Aug 28.

Department of Dermatology and Venerology, University Hospital Hamburg-Eppendorf, Hamburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2015.06.021DOI Listing
October 2015

Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses.

JAMA Dermatol 2015 Mar;151(3):285-92

Dermatology Service, Department of Veterans Affairs Medical Center, University of California, San Francisco2Department of Dermatology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamadermatol.2014.3369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498571PMC
March 2015

Distinguishing ichthyoses by protein profiling.

PLoS One 2013 9;8(10):e75355. Epub 2013 Oct 9.

Department of Environmental Toxicology and Forensic Science Graduate Program, University of California Davis, Davis, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075355PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3793978PMC
June 2014

Formation and functions of the corneocyte lipid envelope (CLE).

Biochim Biophys Acta 2014 Mar 27;1841(3):314-8. Epub 2013 Sep 27.

Dermatology Services, Veterans Affairs Medical Center, San Francisco, CA, USA; Department of Dermatology, University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.1016/j.bbalip.2013.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943821PMC
March 2014

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

J Dtsch Dermatol Ges 2013 Oct 13;11(10):1023-5. Epub 2013 May 13.

Center of Medical Genetics Innsbruck, Medical University of Innsbruck, Austria.

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http://dx.doi.org/10.1111/ddg.12116DOI Listing
October 2013

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Eur J Hum Genet 2013 Feb 27;21(2):123-33. Epub 2012 Jun 27.

Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria.

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http://www.nature.com/articles/ejhg2012121
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http://dx.doi.org/10.1038/ejhg.2012.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548255PMC
February 2013

An appraisal of oral retinoids in the treatment of pachyonychia congenita.

J Am Acad Dermatol 2012 Jun 24;66(6):e193-9. Epub 2011 May 24.

Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.jaad.2011.02.003DOI Listing
June 2012

Concomitant juvenile xanthogranuloma and cutaneous mastocytosis in a 3-year-old Swedish girl: case report and review of the literature.

Int J Dermatol 2011 May 23;50(5):611-4. Epub 2011 Feb 23.

Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria.

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http://doi.wiley.com/10.1111/j.1365-4632.2010.04553.x
Publisher Site
http://dx.doi.org/10.1111/j.1365-4632.2010.04553.xDOI Listing
May 2011

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?

Wien Klin Wochenschr 2010 Oct 27;122(19-20):551-7. Epub 2010 Sep 27.

Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria.

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http://link.springer.com/10.1007/s00508-010-1449-3
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http://dx.doi.org/10.1007/s00508-010-1449-3DOI Listing
October 2010

[Crusty lesion on the cheek and red papule on the breast of a 70-year-old patient].

J Dtsch Dermatol Ges 2009 Sep;7(9):801-2

Universitätsklinik für Dermatologie und Venerologie, Medizinische Universitüt Innsbruck, Osterreich.

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http://dx.doi.org/10.1111/j.1610-0387.2009.07131.xDOI Listing
September 2009

GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion.

Mol Genet Metab 2009 Apr 31;96(4):253-60. Epub 2009 Jan 31.

Department of Oral Biology and Pathology, School of Dental Medicine, Stony Brook University, Stony Brook, NY 11794-8702, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.12.007DOI Listing
April 2009

Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.

Adv Dermatol 2007 ;23:231-56

Department of Dermatology, University of California, VAMC Metabolism 111F, 4150 Clement Street, San Francisco, CA 94121, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603607PMC
http://dx.doi.org/10.1016/j.yadr.2007.07.011DOI Listing
January 2008

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

Eur J Hum Genet 2007 Feb 13;15(2):179-84. Epub 2006 Dec 13.

Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria.

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http://dx.doi.org/10.1038/sj.ejhg.5201742DOI Listing
February 2007

Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity.

Arch Dermatol Res 2005 Sep 29;297(3):127-33. Epub 2005 Sep 29.

Department of Environmental Toxicology, University of California, One Shields Avenue, Davis, CA 95616-8588, USA.

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http://dx.doi.org/10.1007/s00403-005-0591-7DOI Listing
September 2005

Radiation exposure to the spinal interventionalist performing lumbar discography.

Pain Physician 2003 Jul;6(3):295-300

Florida Spine Institute, 2250 Drew Street, Clearwater, FL 33765, USA.

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July 2003

Lumbar spinal stenosis: anatomy and pathogenesis.

Phys Med Rehabil Clin N Am 2003 Feb;14(1):1-15, v

Florida Spine Institute, 2250 Drew Street, Clearwater, FL 33765, USA.

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http://dx.doi.org/10.1016/s1047-9651(02)00063-3DOI Listing
February 2003

Lumbar epidural steroid injections in the patient with lumbar spinal stenosis.

Phys Med Rehabil Clin N Am 2003 Feb;14(1):121-41

Florida Spine Institute, 2250 Drew Street, Clearwater, FL 33765, USA.

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http://dx.doi.org/10.1016/s1047-9651(02)00048-7DOI Listing
February 2003