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2019

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

Öyzurt, K., Atasoy, M., Ertaş, R., Ulaş, Y., Akkuş, M. R., Kiraz, A. & Hennies, H. C., 1 Dec 2019, In : Turkish Journal of Pediatrics. 61, 4, p. 604-607 4 p.

Research output: Contribution to journalArticle

Open Access
Netherton Syndrome
Job Syndrome
Diagnostic Errors
Ichthyosis
Eczema
5 Citations (Scopus)

Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents

Plank, R., Yealland, G., Miceli, E., Lima Cunha, D., Graff, P., Thomforde, S., Gruber, R., Moosbrugger-Martinz, V., Eckl, K., Calderón, M., Hennies, H. C. & Hedtrich, S., 1 May 2019, In : Journal of Investigative Dermatology. 139, 5, p. 1191-1195 5 p.

Research output: Contribution to journalLetter

Open Access
File
1 Citation (Scopus)

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

Lima Cunha, D., Alakloby, O. M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A. S., Abdulaziz Alnutaifi, K. & Hennies, H. C., 1 Mar 2019, In : Molecular genetics & genomic medicine. 7, 3, p. e539 12 p., e539.

Research output: Contribution to journalArticle

Open Access
File
Ichthyosis
Saudi Arabia
Pakistan
Genetic Association Studies
Mutation
2018

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian patients

Sathishkumar, D., Peter, D., Pulimood, S., Wiegmann, H., Valentin, F., Thomas, M., Hennies, H. C. & Oji, V., 30 Dec 2018, In : Case Reports in Dermatological Medicine. 2018, p. 1-4 4 p., 3140473.

Research output: Contribution to journalArticle

Open Access
File
Ichthyosis
Mutation
Genes
Phenotype
Temperature
2017
10 Citations (Scopus)

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

Ng, M., Thakkar, D., Southam, L., Werker, P. M., Ophoff, R., Becker, K., Nothnagel, M., Franke, A., Nürnberg, P., Espirito-Santo, A. I., Izadi, D., Hennies, H., Nanchahal, J., Zeggini, E. & Furniss, D., 7 Sep 2017, In : American Journal of Human Genetics. 101, 3, p. 417-427 11 p.

Research output: Contribution to journalArticle

Open Access
Dupuytren Contracture
Genome-Wide Association Study
Fibrosis
Connective Tissue Diseases
Myofibroblasts
12 Citations (Scopus)

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis

Ammann, S., Lehmberg, K., Zur Stadt, U., Klemann, C., Janka, G., Wustrau, K., Rakhmanov, M., Fuchs, I., Hennies, H. & Ehl, S., Nov 2017, In : Journal of Clinical Immunology. 37, 8, p. 770-780 11 p.

Research output: Contribution to journalArticle

Open Access
Exome
Hemophagocytic Lymphohistiocytosis
Siblings
Flow Cytometry
Metabolic Diseases
7 Citations (Scopus)

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations

Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K. M., Schupart, R., Nürnberg, P., Zschocke, J., Schmuth, M., Volc-platzer, B. & Hennies, H., Apr 2017, In : British Journal of Dermatology. 176, 4, p. 1068-1073 6 p.

Research output: Contribution to journalArticle

Open Access
Ichthyosis
Collodion
Siblings
Mutation
Exfoliative Dermatitis

Network analysis and fine-mapping GWAS loci to identify genes and functional variants involved in the development of Dupuytren disease

Becker, K., Du, J., Nürnberg, P. & Hennies, H., 2017, Dupuytren Disease and Related diseases: The Cutting Edge. Werker, P. M. N., Dias, J., Eaton, C., Reichert, B. & Wach, W. (eds.). Springer Verlag, p. 105-111 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Dupuytren Contracture
Genome-Wide Association Study
Inborn Genetic Diseases
Genes
Nucleotides

S1 guidelines for the diagnosis and treatment of ichthyoses - update

Oji, V., Preil, M., Kleinow, B., Wehr, G., Fischer, J., Hennies, H. C., Hausser, I., Breitkreutz, D., Aufenvenne, K., Stieler, K., Tantcheva-poór, I., Weidinger, S., Emmert, S., Hamm, H., Perusquia-ortiz, A. M., Zaraeva, I., Diem, A., Giehl, K., Fölster-holst, R., Kiekbusch, K. & 3 others, Höger, P., Ott, H. & Traupe, H., 4 Oct 2017, In : JDDG - Journal of the German Society of Dermatology. 15, 10, p. 1053-1065 13 p.

Research output: Contribution to journalArticle

Open Access
Ichthyosis
Guidelines
Inborn Genetic Diseases
Balneology
Patient Advocacy
8 Citations (Scopus)

S1-Leitlinie zur Diagnostik und Therapie der Ichthyosen – Aktualisierung

Oji, V., Preil, M. L., Kleinow, B., Wehr, G., Fischer, J., Hennies, H. C., Hausser, I., Breitkreutz, D., Aufenvenne, K., Stieler, K., Tantcheva-Poór, I., Weidinger, S., Emmert, S., Hamm, H., Perusquia-Ortiz, A. M., Zaraeva, I., Diem, A., Giehl, K., Fölster-Holst, R., Kiekbusch, K. & 3 others, Höger, P., Ott, H. & Traupe, H., 1 Oct 2017, In : JDDG - Journal of the German Society of Dermatology. 15, 10, p. 1053-1065 13 p.

Research output: Contribution to journalArticle

2016
9 Citations (Scopus)

Meta-analysis of genome-wide association studies and network analysis-based integration with gene expression data identify new suggestive loci and unravel a Wnt-centric network associated with Dupuytren's disease

Becker, K., Siegert, S., Toliat, M. R., Du, J., Casper, R., Dolmans, G. H., Werker, P. M., Tinschert, S., Franke, A., Gieger, C., Strauch, K., Nothnagel, M., Nürnberg, P., Hennies, H. C., Bleuler, P. E., Damert, H. G., Frank, W., Hohendorff, B., Kühnel, F., Langer, M. & 10 others, Lenze, W., Lienert, A., Meinel, A., Nick, H. E., Rößler, J., Spicher, R., Staub, F., Wach, W., Weinand, C. & German Dupuytren Study Group, 28 Jul 2016, In : PLoS One. 11, 7, 18 p., e0158101.

Research output: Contribution to journalArticle

Open Access
Dupuytren Contracture
Genome-Wide Association Study
Electric network analysis
meta-analysis
Gene expression
60 Citations (Scopus)

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N. M. G., Niethammer, K., Fuchs, S., Eckl, K. M., Plank, R., Werner, R., Altmüller, J., Thiele, H., Nürnberg, P., Bank, J., Strauss, A., Von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G. M., Lehmberg, K., Hennies, H. C. & 1 others, Ehl, S., 25 Feb 2016, In : Blood. 127, 8, p. 997-1006 10 p.

Research output: Contribution to journalArticle

Adaptor Protein Complex 3
Hermanski-Pudlak Syndrome
Albinism
Seizures
Mutation
1 Citation (Scopus)

Nanogel-mediated protein replacement therapy for autosomal recessive congenital ichthyosis (ARCI)

Plank, R., Obst, K., Yealland, G., Caldero´n, M., Hedtrich, S., Eckl, K. M. & Hennies, H. C., 1 Jan 2016, Proceedings of the World Congress on Recent Advances in Nanotechnology, RAN 2016. Avestia Publishing

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Open Access
30 Citations (Scopus)

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, I., Heiss-Kisielewsky, I., Pepin, M., Dorschner, M., Hale, C. J., Hanna, D., Yang, M., Byers, P. H., Werner, R., Amberger, A., Schossig, A., Gruber, R., Zschocke, J., Aitman, T. J., Aitman, T. J., Nordgren, A., Björck, E., Lindstrand, A., Taylan, F., Nordgren, A. & 47 others, Björck, E., Lindstrand, A., Stoiber, H., Thielens, N., Gaboriaud, C., Gruber, R., Romani, N., Schmuth, M., Giunta, C., Rohrbach, M., Bamshad, M., Bamshad, M., Chen, C., Nickerson, D. A., Bamshad, M., Bamshad, M., Chitayat, D., Silver, R., Chitayat, D., Silver, R., Schmitt-Egenolf, M., Hennies, H. C., Lundberg, P., Mitchell, A. L., Reinstein, E., Vandersteen, A., Vandrovcova, J., Weerakkody, R., Pope, F. M., Pope, F. M., Byers, P. H., Aleck, K., Banki, Z., Dudas, J., Dumfahrt, H., Haririan, H., Hartsfield, J. K., Kagen, C. N., Lindert, U., Meitinger, T., Posch, W., Pritz, C., Ross, D., Schroer, R. J., Wick, G., Wildin, R. & Wilflingseder, D., 3 Nov 2016, In : American Journal of Human Genetics. 99, 5, p. 1005-1014 10 p.

Research output: Contribution to journalArticle

Open Access
Complement C1r
Complement C1s
Ehlers-Danlos Syndrome
Mutation
Classical Complement Pathway
2015
2 Citations (Scopus)
Trypsin Inhibitors
Extracellular Matrix Proteins
24 Citations (Scopus)

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

Seifert, W., Kühnisch, J., Maritzen, T., Lommatzsch, S., Hennies, H. C., Bachmann, S., Horn, D. & Haucke, V., 6 Feb 2015, In : Journal of Biological Chemistry. 290, 6, p. 3349-3358 10 p.

Research output: Contribution to journalArticle

Monomeric GTP-Binding Proteins
Golgi Apparatus
Membrane Lipids
Scaffolds
Neurons
46 Citations (Scopus)

Diverse Regulation of Claudin-1 and Claudin-4 in Atopic Dermatitis

Gruber, R., Börnchen, C., Rose, K., Daubmann, A., Volksdorf, T., Wladykowski, E., Vidal-Y-Sy, S., Peters, E. M., Danso, M., Bouwstra, J. A., Hennies, H. C., Moll, I., Schmuth, M. & Brandner, J. M., Oct 2015, In : American Journal of Pathology. 185, 10, p. 2777-2789 13 p., 2123.

Research output: Contribution to journalArticle

Claudin-4
Claudin-1
Atopic Dermatitis
Skin
Down-Regulation
4 Citations (Scopus)

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA

Moosbrugger-Martinz, V., Jalili, A., Schossig, A. S., Jahn-Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K. M., Hennies, H. C. & Gruber, R., 1 Jun 2015, In : British Journal of Dermatology. 172, 6, p. 1628-1632 5 p.

Research output: Contribution to journalArticle

Ichthyosis
Cysteine Proteinase Inhibitors
Mutation
Netherton Syndrome
Cystatin A
11 Citations (Scopus)

Sebaceous gland, hair shaft, and epidermal barrier abnormalities in keratosis pilaris with and without filaggrin deficiency

Gruber, R., Sugarman, J. L., Crumrine, D., Hupe, M., Mauro, T. M., Mauldin, E. A., Thyssen, J. P., Brandner, J. M., Hennies, H. C., Schmuth, M. & Elias, P. M., Apr 2015, In : American Journal of Pathology. 185, 4, p. 1012-1021 10 p.

Research output: Contribution to journalArticle

Open Access
Sebaceous Glands
Hair
Claudin-1
Mutation
Ichthyosis Vulgaris
9 Citations (Scopus)

The importance of genetic susceptibility in Dupuytren's disease

Becker, K., Tinschert, S., Lienert, A., Bleuler, P. E., Staub, F., Meinel, A., Rößler, J., Wach, W., Hoffmann, R., Kühnel, F., Damert, H. G., Nick, H. E., Spicher, R., Lenze, W., Langer, M., Nürnberg, P. & Hennies, H. C., May 2015, In : Clinical Genetics. 87, 5, p. 483-487 5 p.

Research output: Contribution to journalArticle

Dupuytren Contracture
Genetic Predisposition to Disease
Inborn Genetic Diseases
Fibroma
Contracture
44 Citations (Scopus)

Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules

Witting, M., Molina, M., Obst, K., Plank, R., Eckl, K. M., Hennies, H. C., Calderón, M., Friess, W. & Hedtrich, S., Jul 2015, In : Nanomedicine: Nanotechnology, Biology, and Medicine. 11, 5, p. 1179-1187 9 p.

Research output: Contribution to journalArticle

Proteins
Skin
Genetic Skin Diseases
Hot Temperature
Trigger Points
2014
13 Citations (Scopus)

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

Eckl, K. M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M. R., Haag, R., Hennies, H. C. & Schäfer-Korting, M., Apr 2014, In : Experimental Dermatology. 23, 4, p. 286-288 3 p.

Research output: Contribution to journalArticle

Ichthyosis
Skin Absorption
Skin
Keratinocytes
Caffeine
20 Citations (Scopus)

Palmoplantare Keratosen (PPK): Erworbene und genetische Ursachen eines gar nicht so seltenen Krankheitsbildes

Translated title of the contribution: Palmoplantar keratoderma (PPK): Acquired and genetic causes of a not so rare diseaseSchiller, S., Seebode, C., Hennies, H. C., Giehl, K. & Emmert, S., Sep 2014, In : JDDG - Journal of the German Society of Dermatology. 12, 9, p. 781-788 8 p.

Research output: Contribution to journalReview article

Palmoplantar Keratoderma
Rare Diseases
Genes
Counseling
Molecular Biology
54 Citations (Scopus)

Penetration of normal, damaged and diseased skin: An in vitro study on dendritic core-multishell nanotransporters

Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Rühl, E., Eckl, K. M., Merk, H. F., Hennies, H. C., Alexiev, U., Haag, R., Küchler, S. & Schäfer-Korting, M., 10 Jul 2014, In : Journal of Controlled Release. 185, 1, p. 45-50 6 p.

Research output: Contribution to journalArticle

Skin Diseases
Skin
Coloring Agents
In Vitro Techniques
Optical Imaging
2013
6 Citations (Scopus)

Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene

Nellen, R. G. L., Steijlen, P. M., Hennies, H. C., Fischer, J., Munro, C. S., Jonkman, M. F., van Steensel, M. A. M. & van Geel, M., Jun 2013, In : British Journal of Dermatology. 168, 6, p. 1372-1374 3 p.

Research output: Contribution to journalLetter

85 Citations (Scopus)

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Eckl, K-M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M-L., Onal-Akan, A., Stock, F., Müller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J., Nürnberg, P., Traupe, H., Futerman, A. H. & Hennies, H. C., Sep 2013, In : Journal of Investigative Dermatology. 133, 9, p. 2202-11 10 p.

Research output: Contribution to journalArticle

Open Access
Ichthyosis
Ceramides
Chain length
Skin
Keratinocytes
36 Citations (Scopus)

Induced Pluripotent Mesenchymal Stromal Cell Clones Retain Donor-derived Differences in DNA Methylation Profiles

Shao, K., Koch, C., Gupta, M. K., Lin, Q., Lenz, M., Laufs, S., Denecke, B., Schmidt, M., Linke, M., Hennies, H. C., Hescheler, J., Zenke, M., Zechner, U., Šarić, T. & Wagner, W., Jan 2013, In : Molecular Therapy. 21, 1, p. 240-250 11 p.

Research output: Contribution to journalArticle

Open Access
DNA Methylation
Mesenchymal Stromal Cells
Epigenomics
Induced Pluripotent Stem Cells
Embryonic Stem Cells
20 Citations (Scopus)

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Pasternack, S. M., Refke, M., Paknia, E., Hennies, H. C., Franz, T., Schäfer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrándiz, C., Nöthen, M. M., Fischer, U. & Betz, R. C., 10 Jan 2013, In : American Journal of Human Genetics. 92, 1, p. 81-87 7 p.

Research output: Contribution to journalArticle

Open Access
Spliceosomes
Alopecia
Mutation
Initiator Codon
Proteins
2012
102 Citations (Scopus)

A Truncating Mutation of CEP135  Causes Primary Microcephaly and Disturbed Centrosomal Function

Hussain, M. S., Baig, S. M., Neumann, S., Nürnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmüller, J., Frommolt, P., Thiele, H., Noegel, A. A. & Nürnberg, P., 4 May 2012, In : American Journal of Human Genetics. 90, 5, p. 871-878 8 p.

Research output: Contribution to journalArticle

Open Access
Microcephaly
Centrosome
Chromosomes, Human, Pair 4
Mutation
Genes
6 Citations (Scopus)

Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents

Jansen, P. A. M., van den Bogaard, E. H., Kersten, F. F. J., Oostendorp, C., van Vlijmen-Willems, I. M. J. J., Oji, V., Traupe, H., Hennies, H. C., Schalkwijk, J. & Zeeuwen, P. L. J. M., Nov 2012, In : Experimental Dermatology. 21, 11, p. 889-891 3 p.

Research output: Contribution to journalLetter

Cystatin M
Ichthyosis
Morphogenesis
Small Interfering RNA
Skin
24 Citations (Scopus)

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

Forstbauer, L. M., Brockschmidt, F. F., Moskvina, V., Herold, C., Redler, S., Herzog, A., Hillmer, A. M., Meesters, C., Heilmann, S., Albert, F., Alblas, M., Hanneken, S., Eigelshoven, S., Giehl, K. A., Jagielska, D., Blume-Peytavi, U., Garcia Bartels, N., Kuhn, J., Hennies, H. C., Goebeler, M. & 13 others, Jung, A., Peitsch, W. K., Kortüm, A-K., Moll, I., Kruse, R., Lutz, G., Wolff, H., Blaumeiser, B., Böhm, M., Kirov, G., Becker, T., Nöthen, M. M. & Betz, R. C., Mar 2012, In : European Journal of Human Genetics. 20, 3, p. 326-332 7 p.

Research output: Contribution to journalArticle

Alopecia Areata
Spermatogenesis
Single Nucleotide Polymorphism
Genome
Proteins
16 Citations (Scopus)

Long-Term Faithful Recapitulation of Transglutaminase 1-Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies

Aufenvenne, K., Rice, R. H., Hausser, I., Oji, V., Hennies, H. C., Rio, M. D., Traupe, H. & Larcher, F., Jul 2012, In : Journal of Investigative Dermatology. 132, 7, p. 1918-21 4 p.

Research output: Contribution to journalLetter

Open Access
104 Citations (Scopus)

RHBDF2 Mutations are Associated with Tylosis, a Familial Esophagel Cancer Syndrome

Blaydon, D. C., Etheridge, S. L., Risk, J. M., Hennies, H-C., Gay, L. J., Carroll, R., Plagnol, V., McRonald, F. E., Stevens, H. P., Spurr, N. K., Bishop, D. T., Ellis, A., Jankowski, J., Field, J. K., Leigh, I. M., South, A. P. & Kelsell, D. P., 10 Feb 2012, In : American Journal of Human Genetics. 90, 2, p. 340-346 7 p.

Research output: Contribution to journalArticle

Open Access
Esophageal Neoplasms
Keratoderma, Palmoplantar, Diffuse
Mutation
Neoplasms
Epidermal Growth Factor Receptor

The Genetic Basis of Dupuytren’s Disease: An Introduction

Dolmans, G. H. & Hennies, H., 2012, Dupuytren’s Disease and Related Hyperproliferative Disorders: Principles, Research, and Clinical Perspectives. Eaton, C., Seegenschmiedt, M. H., Bayat, A., Gabbiani, G., Werker, P. & Wach, W. (eds.). Springer Verlag, p. 87-93 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Dupuytren Contracture
Inborn Genetic Diseases
Twin Studies
Penetrance
Chromosome Mapping
2011
8 Citations (Scopus)

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype

Gruber, R., Hennies, H. C., Romani, N. & Schmuth, M., Jun 2011, In : JAMA Dermatology. 147, 6, p. 748-50 3 p.

Research output: Contribution to journalArticle

44 Citations (Scopus)

CEDNIK syndrome results from loss-of-function mutations in SNAP29

Fuchs-Telem, D., Stewart, H., Rapaport, D., Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, S., Eckl, K., Hennies, H. C., Sarig, O., Goldsher, D., Meilik, B., Ishida-Yamamoto, A., Horowitz, M. & Sprecher, E., Mar 2011, In : British Journal of Dermatology. 164, 3, p. 610-616 7 p.

Research output: Contribution to journalArticle

Ichthyosis
Mutation
Cell Culture Techniques
Agenesis of Corpus Callosum
SNARE Proteins
49 Citations (Scopus)

Cohen Syndrome-associated Protein, COH1, is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

Seifert, W., Kühnisch, J., Maritzen, T., Horn, D., Haucke, V. & Hennies, H. C., 28 Oct 2011, In : Journal of Biological Chemistry. 286, 43, p. 37665-37675 11 p.

Research output: Contribution to journalArticle

Proteins
Pathology
Fibroblasts
RNA Interference
Membrane Proteins
26 Citations (Scopus)

Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Kertinization Disorders

Eckl, K-M., Alef, T., Torres, S. & Hennies, H. C., Sep 2011, In : Journal of Investigative Dermatology. 131, 9, p. 1938-1942 5 p.

Research output: Contribution to journalLetter

Open Access
28 Citations (Scopus)

Genetic Aspects of Familial Ménière's Disease

Arweiler-Harbeck, D., Horsthemke, B., Jahnke, K. & Hennies, H. C., Jun 2011, In : Otology and Neurotology. 32, 4, p. 695-700 6 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 5
Penetrance
Migraine Disorders
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 8

Genome-wide association scan of Dupuytren's disease

Furniss, D., Dolmans, G. H. C. G. & Hennies, H. C., Apr 2011, In : Journal of Hand Surgery. 36, 4, p. 755-756 2 p.

Research output: Contribution to journalLetter

45 Citations (Scopus)

Hallmarks of Atopic Skin Mimicked In Vitro by Means of a Skin Disease Model Based on FLG Knock-down

Küchler, S., Henkes, D., Eckl, K-M., Ackermann, K., Plendl, J., Korting, H-C., Hennies, H-C. & Schäfer-Korting, M., Oct 2011, In : ATLA Alternatives to Laboratory Animals. 39, 5, p. 471-480 10 p.

Research output: Contribution to journalArticle

Gene Knockdown Techniques
Skin Diseases
Skin
Genes
Skin Absorption
10 Citations (Scopus)

IGFBP7 as a potential therapeutic target in Psoriasis

Nousbeck, J., Ishida-Yamamoto, A., Bidder, M., Fuchs, D., Eckl, K., Hennies, H. C., Sagiv, N., Gat, A., Gini, M., Filip, I., Matz, H., Goldberg, I., Enk, C. D., Sarig, O., Meilik, B., Aberdam, D., Gilhar, A. & Sprecher, E., Aug 2011, In : Journal of Investigative Dermatology. 131, 8, p. 1767-1770 4 p.

Research output: Contribution to journalLetter

Open Access
122 Citations (Scopus)

In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells

Fatima, A., Xu, G., Shao, K., Papadopoulos, S., Lehmann, M., Arnáiz-Cot, J. J., Rosa, A. O., Nguemo, F., Matzkies, M., Dittmann, S., Stone, S. L., Linke, M., Zechner, U., Beyer, V., Hennies, H. C., Rosenkranz, S., Klauke, B., Parwani, A. S., Haverkamp, W., Pfitzer, G. & 6 others, Farr, M., Cleemann, L., Morad, M., Milting, H., Hescheler, J. & Saric, T., Dec 2011, In : Cellular Physiology and Biochemistry. 28, 4, p. 579-592 14 p.

Research output: Contribution to journalArticle

Open Access
Induced Pluripotent Stem Cells
Ryanodine Receptor Calcium Release Channel
Cardiac Myocytes
Mutation
Genes
50 Citations (Scopus)

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for this Protease Inhibitor in Cell-Cell Adhesion

Blaydon, D. C., Nitoiu, D., Eckl, K-M., Cabral, R. M., Bland, P., Hausser, I., van Heel, D. A., Rajpopat, S., Fischer, J., Oji, V., Zvulunov, A., Traupe, H., Hennies, H. C. & Kelsell, D. P., 7 Oct 2011, In : American Journal of Human Genetics. 89, 4, p. 564-571 8 p.

Research output: Contribution to journalArticle

Open Access
Cystatin A
Ichthyosis
Protease Inhibitors
Cell Adhesion
Skin
116 Citations (Scopus)

Wnt signaling and Dupuytren's disease

Dolmans, G. H., Werker, P. M., Hennies, H. C., Furniss, D., Festen, E. A., Franke, L., Becker, K., van der Vlies, P., Wolffenbuttel, B. H., Tinschert, S., Toliat, M. R., Nothnagel, M., Franke, A., Klopp, N., Wichmann, H-E., Nürnberg, P., Giele, H., Ophoff, R. A., Wijmenga, C. & Dutch Dupuytren Study Group, 28 Jul 2011, In : New England Journal of Medicine. 365, 4, p. 307-317 11 p.

Research output: Contribution to journalArticle

Open Access
Dupuytren Contracture
Odds Ratio
Single Nucleotide Polymorphism
Wnt Signaling Pathway
Fibroma