Publications by authors named "Hans Christian Hennies"

71Publications

Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C.

Turk J Pediatr 2019 ;61(4):604-607

Medical Genetics Health Science University, Kayseri Training and Research Center, Kayseri, Turkey.

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http://dx.doi.org/10.24953/turkjped.2019.04.020DOI Listing
May 2020

A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis.

Am J Hum Genet 2017 Sep;101(3):417-427

Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Science, University of Oxford, Botnar Research Centre, Windmill Road, Oxford OX3 7HE, UK; Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK; NIHR Biomedical Research Centre, NDORMS, University of Oxford, Botnar Research Centre, Windmill Road, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591021PMC
September 2017

All is balanced: inter-α-trypsin inhibitors as unseen extracellular matrix proteins in epidermal morphology and differentiation.

Exp Dermatol 2015 Sep;24(9):661-2

Center for Dermatogenetics, Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1111/exd.12771DOI Listing
September 2015

Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules.

Nanomedicine 2015 Jul 16;11(5):1179-87. Epub 2015 Mar 16.

Freie Universität Berlin, Institute for Pharmaceutical Sciences, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.nano.2015.02.017DOI Listing
July 2015

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

J Biol Chem 2015 Feb 9;290(6):3349-58. Epub 2014 Dec 9.

Department of Molecular Pharmacology and Cell Biology, Leibniz-Institute for Molecular Pharmacology, 13125 Berlin, Germany.

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http://dx.doi.org/10.1074/jbc.M114.608174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319006PMC
February 2015

Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.

J Dtsch Dermatol Ges 2014 Sep;12(9):781-8

Department of Dermatology, Venereology, and Allergology, University Medical Center, Göttingen, Germany.

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http://dx.doi.org/10.1111/ddg.12418DOI Listing
September 2014

Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders.

Exp Dermatol 2014 Apr;23(4):286-8

Dermatogenetics, Division of Human Genetics and Department of Dermatology and Venereology, Innsbruck Medical University, Innsbruck, Austria; Dermatogenetics, Cologne Center for Genomics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1111/exd.12366DOI Listing
April 2014

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.

J Biol Chem 2011 Oct 24;286(43):37665-75. Epub 2011 Aug 24.

Cologne Center for Genomics, Universität zu Köln, 50931 Köln, Germany.

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http://dx.doi.org/10.1074/jbc.M111.267971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199510PMC
October 2011

IGFBP7 as a potential therapeutic target in Psoriasis.

J Invest Dermatol 2011 Aug 12;131(8):1767-70. Epub 2011 May 12.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1038/jid.2011.108DOI Listing
August 2011

Genetic aspects of familial Ménière's disease.

Otol Neurotol 2011 Jun;32(4):695-700

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, University Duisburg-Essen, Germany.

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http://dx.doi.org/10.1097/MAO.0b013e318216074aDOI Listing
June 2011

Bathing suit ichthyosis.

Eur J Dermatol 2010 Jul-Aug;20(4):447-50. Epub 2010 Jun 3.

Department of Dermatology, Hospital de Cascais, Av. Brigadeiro Victor Novais Gonçalves, 2755-009 Cascais, Portugal.

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http://dx.doi.org/10.1684/ejd.2010.1008DOI Listing
September 2010

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.

J Invest Dermatol 2009 Apr 9;129(4):862-9. Epub 2008 Oct 9.

Division of Dermatogenetics, Cologne Center for Genomics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/jid.2008.311DOI Listing
April 2009

Rapid detection of homozygous mutations in congenital recessive ichthyosis.

Arch Dermatol Res 2008 Feb 22;300(2):81-5. Epub 2007 Nov 22.

Department of Dermatology, Laboratory of Molecular Dermatology, Rambam Health Care Campus, Rambam Medical Center, Haifa, Israel.

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http://link.springer.com/content/pdf/10.1007/s00403-007-0815
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http://link.springer.com/10.1007/s00403-007-0815-0
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http://dx.doi.org/10.1007/s00403-007-0815-0DOI Listing
February 2008

Hyalinosis cutis et mucosae.

J Dtsch Dermatol Ges 2007 May;5(5):401-5

Department of Dermatology, University of Heidelberg, Germany.

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http://dx.doi.org/10.1111/j.1610-0387.2007.06284.xDOI Listing
May 2007

Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation.

Prostaglandins Other Lipid Mediat 2007 Jan 24;82(1-4):128-34. Epub 2006 Jul 24.

Research Group Eicosanoids and Tumor Development, Deutsches Krebsforschungszentrum, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.prostaglandins.2006.05.006DOI Listing
January 2007

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

Mol Vis 2006 Oct 18;12:1217-22. Epub 2006 Oct 18.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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October 2006

Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.

J Am Acad Dermatol 2006 Sep 16;55(3):393-401. Epub 2006 Jun 16.

Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1016/j.jaad.2006.02.020DOI Listing
September 2006

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.

Mol Vis 2006 May 22;12:518-22. Epub 2006 May 22.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, Punjab, India.

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May 2006

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.

Mol Vis 2006 Feb 21;12:93-9. Epub 2006 Feb 21.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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February 2006

[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].

J Dtsch Dermatol Ges 2005 Feb;3(2):105-8

Univ.-Klinik für Dermatologie und Venerologie, Graz, Osterreich.

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http://dx.doi.org/10.1111/j.1610-0378.2005.04748.xDOI Listing
February 2005

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Hum Mutat 2006 Jan;27(1):62-8

Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.20274DOI Listing
January 2006

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Pediatr Nephrol 2006 Jan 21;21(1):32-5. Epub 2005 Oct 21.

Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, USA.

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http://dx.doi.org/10.1007/s00467-005-2054-yDOI Listing
January 2006

Vestibular dysfunction of patients with mutations of Connexin 26.

Neuroreport 2005 Aug;16(11):1179-81

Department of Otolaryngology at UKB, Hospital of the University of Berlin, Germany.

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http://dx.doi.org/10.1097/00001756-200508010-00009DOI Listing
August 2005

Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies.

Arch Dermatol Res 2005 Jun 5;296(12):585-7. Epub 2005 May 5.

Institute of Nuclear Medicine, Wagner Jauregg Hospital, Wagner Jauregg Weg 15, 4021, Linz, Austria.

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http://dx.doi.org/10.1007/s00403-005-0566-8DOI Listing
June 2005

Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins.

J Am Acad Dermatol 2005 Mar;52(3 Pt 1):403-9

Departments of Dermatology and Allergy, Charité-University Medicine of Berlin, Schumannstr. 20/21, 10117 Berlin/Germany.

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http://dx.doi.org/10.1016/j.jaad.2004.07.029DOI Listing
March 2005

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Am J Med Genet A 2005 Mar;133A(2):128-31

Department of Medical Biology and Human Genetics, Innsbruck Medical University, Schöpfstrasse 41, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1002/ajmg.a.30515DOI Listing
March 2005

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.

Am J Med Genet A 2004 Jul;128A(2):156-8

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.30068DOI Listing
July 2004

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.

Circulation 2004 Jun 1;109(22):2720-3. Epub 2004 Jun 1.

Max Delbrück Center for Molecular Medicine, Robert-Roessle Str 10, 13092 Berlin, Germany.

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http://dx.doi.org/10.1161/01.CIR.0000131865.21260.56DOI Listing
June 2004

Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene.

J Am Acad Dermatol 2003 Nov;49(5 Suppl):S240-3

Department of Dermatology, Karl-Franzens University, Graz, Austria.

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http://dx.doi.org/10.1016/s0190-9622(03)01558-5DOI Listing
November 2003

47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer.

Eur J Dermatol 2003 Jan-Feb;13(1):16-20

Department of Dermatology, University of Goettingen, von-Siebold-Strasse 3, Germany.

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June 2003

Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation.

Arch Dermatol Res 2002 Aug 2;294(6):268-72. Epub 2002 Jul 2.

TOMESA Clinic for Allergy, Skin and Joint Diseases, and Rheumatism, Bad Salzschlirf, Germany.

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http://dx.doi.org/10.1007/s00403-002-0328-9DOI Listing
August 2002