Portrait of Dr Hans Hennies Dr Hans Hennies

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h.c.hennies@hud.ac.uk | 01484 473014


  0000-0001-7210-2389  


Biography

Hans studied biochemistry at the Freie Universität Berlin, Germany, and moved to the field of human genetics for his PhD studies. He obtained a PhD for a project exploring the genetic basis of a group of monogenic skin diseases, which is a major research interest until today. He continued working on disorders of keratinisation with Prof. A. Reis (then Institute of Human Genetics, Charité Berlin) and Prof. I. Leigh (then Imperial Cancer Reasearch Fund, London) before moving to the Gene Mapping Center (director Prof. A. Reis) at the Max Delbrück Center for Molecular Medicine, Berlin.

In 2005 he was appointed Junior Research Group leader at the University of Cologne and has been head of the Division of Dermatogenetics at the Cologne Center for Genomics (director Prof. P. Nürnberg), and he is affiliated with the University of Cologne until today, to oversee research projects and deliver lectures at the Faculty of Medicine. He completed the habilitation and was awarded the venia legendi in 2012. He has been principal investigator at the Center for Molecular Medicine Cologne and the Cologne Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases and established several collaborative research initiatives. He is a board member of the Network for Ichthyoses and Related Keratinisation Disorders (NIRK) and coordinator of the Network on Rare Congenital Skin Diseases (SkinDev) funded by European Research Agencies. From 2013 he was involved in teaching, research and diagnostics of genetic skin diseases at the Institute of Human Genetics of the Medical University of Innsbruck, Austria, and joined the University of Huddersfield in 2015 as a Reader in Biological Sciences. 

Research and Scholarship

Skin is the largest human organ. It represents the interface of the body to the environment and fulfills a large variety of tasks in protecting the organism, regulating body temperature and water and energy balance, and serves as a sensory and immunological organ.

The dermatogenetics research group aims at unravelling the molecular basis for genetic skin and hair diseases. Hans has particularly focused on diseases associated with impaired epidermal barrier function and disturbance of epidermal differentiation such as congenital ichthyosis. In an integrative approach, they provide molecular analysis of genetic skin diseases using gene panel and exome analysis with massively parallel sequencing and other genomics methods; investigate primary keratinocytes and have established 3D full-skin models with organotypic cell culture; and are using induced pluripotent stem (iPS) cells to generate disease- and patient-specific models for monogenic skin disorders.

In an attempt to develop new therapy approaches for rare congenital skin diseases, they use nanoparticles for the delivery of drugs into the epidermis. They want to establish topical protein substitution as a new strategy for causative therapy. The development of disease models suitable for high-throughput studies will be instrumental for drug screening as well as protein substitution studies.

Another research interest relates to the function of the dermal connective tissue. Dupuytren’s disease is the most frequent genetic disorder of connective tissues. It is a multifactorial disease with a strong genetic basis. Using a variety of approaches including genome-wide association studies (GWAS), exome sequencing, transcriptome analysis and studies of fibroblasts they want to elucidate the genetic and functional basis for Dupuytren’s disease and identify targets for novel therapies. 

Publications and Other Research Outputs

2016

Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., Bamshad, M., Bj�rck, E., Chen, C., Chitayat, D., Dorschner, M., Schmitt-Egenolf, M., Hale, C., Hanna, D., Hennies, H., Heiss-Kisielewsky, I., Lindstrand, A., Lundberg, P., Mitchell, A., Nickerson, D., Reinstein, E., Rohrbach, M., Romani, N., Schmuth, M., Silver, R., Taylan, F., Vandersteen, A., Vandrovcova, J., Weerakkody, R., Yang, M., Pope, F., Periodontal, C., Byers, P. and Zschocke, J. (2016) ‘Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of ComplementAmerican Journal of Human Genetics , 99, pp. 1-10. ISSN 1537-6605

Becker, K., Siegert, S., Toliat, M., Du, J., Casper, R., Dolmans, G., Werker, P., Tinschert, S., Franke, A., Gieger, C., Strauch, K., Nothnagel, M., N�rnberg, P. and Hennies, H. (2016) ‘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 DiseasePLoS ONE . ISSN 1932-6203

Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K., Schupart, R., N�rnberg, P., Zschocke, J., Schmuth, M., Volc-Platzer, B. and Hennies, H. (2016) ‘Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutationsBritish Journal of Dermatology . ISSN 0007-0963

Ammann, S., Schulz, A., Kr�geloh-Mann, I., Dieckmann, N., Niethammer, K., Fuchs, S., Eckl, K., Plank, R., Werner, R., Altm�ller, J., Thiele, H., N�rnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G., Lehmberg, K., Hennies, H. and Ehl, S. (2016) ‘Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndromeBlood , 127 (8), pp. 997-1006. ISSN 0006-4971

2015

Gruber, R., B�rnchen, C., Rose, K., Daubmann, A., Volksdorf, T., Wladykowski, E., Vidal, Y., Peters, E., Danso, M., Bouwstra, J., Hennies, H., Moll, I., Schmuth, M. and Brandner, J. (2015) ‘Diverse regulation of claudin-1 and claudin-4 in atopic dermatitisAmerican Journal of Physical Anthropology , 185 (10), pp. 2777-2789. ISSN 0002-9483

Hennies, H (2015) ‘All is balanced: inter-alpha-trypsin inhibitors as unseen extracellular matrix proteins in epidermal morphology and differentiationExperimental dermatology , 24 (9), pp. 661-662. ISSN 1600-0625

Becker, K., Tinschert, S., Lienert, A., Bleuler, P., Staub, F., Meinel, A., R�ssler, J., Wach, W., Hoffmann, R., K�hnel, F., Damert, H., Nick, H., Spicher, R., Lenze, W., Langer, M., N�rnberg, P. and Hennies, H. (2015) ‘The importance of genetic susceptibility in Dupuytren's diseaseClinical Genetics , 87 (5), pp. 483-487. ISSN 0009-9163

Gruber, R., Sugarman, J., Crumrine, D., Hupe, M., Mauro, T., Mauldin, E., Thyssen, J., Brandner, J., Hennies, H., Schmuth, M. and Elias, P. (2015) ‘Sebaceous gland, hair shaft, and epidermal barrier abnormalities in keratosis pilaris with and without filaggrin deficiencyThe American Journal of Pathology , 185 (4), pp. 1012-1021. ISSN 0002-9440

Moosbrugger-Martinz, V., Jalili, A., Schossig, A., Jahn-Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K., Hennies, H. and Gruber, R. (2015) ‘Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTABritish Journal of Dermatology , 172 (6), pp. 1628-1632. ISSN 0007-0963

Witting, M., Molina, M., Obst, K., Plank, R., Eckl, K., Hennies, H., Calderon, M., Friess, W. and Hedtrich, S. (2015) ‘Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromoleculesNanomedicine , 11 (5), pp. 1179-1187. ISSN 1549-9634

Seifert, W., K�hnisch, J., Maritzen, T., Lommatzsch, S., Hennies, H., Bachmann, S., Horn, D. and Haucke, V. (2015) ‘Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowthJournal of Biological Chemistry , 290 (6), pp. 3349-3358. ISSN 0021-9258

2014

Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Ruhl, E., Eckl, K., Merk, H., Hennies, H., Alexiev, U., Haag, R., K�chler, S. and Sch�fer-Korting, M. (2014) ‘Penetration of normal, damaged and diseased skin--an in vitro study on dendritic core-multishell nanotransportersJournal of Controlled Release , 185, pp. 45-50. ISSN 0168-3659

Eckl, K., Weindl, G., Ackermann, K., K�chler, S., Casper, R., Radowski, M., Haag, R., Hennies, H. and Sch�fer-Korting, M. (2014) ‘Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disordersExperimental dermatology , 23 (4), pp. 286-288. ISSN 1600-0625

Schiller, S., Seebode, C., Hennies, H., Giehl, K. and Emmert, S. (2014) ‘Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare diseaseJournal der Deutschen Dermatologischen Gesellschaft , 12 (9), pp. 781-788. ISSN 1610-0379

2013

Eckl, K., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M., �nal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., N�rnberg, G., Altm�ller, J., N�rnberg, P., Traupe, H., Futerman, A. and Hennies, H. (2013) ‘Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain lengthJournal of Investigative Dermatology , 133 (9), pp. 2202-2211. ISSN 0022-202X

Nellen, R., Steijlen, P., Hennies, H., Fischer, J., Munro, C., Jonkman, M., van Steensel, M. and van Geel, M. (2013) ‘Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 geneBritish Journal of Dermatology , 168 (6), pp. 1372-1374. ISSN 0007-0963

Pasternack, S., Refke, M., Paknia, E., Hennies, H., Franz, T., Sch�fer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., N�then, M., Fischer, U. and Betz, R. (2013) ‘Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexThe American Journal of Human Genetics , 92 (1), pp. 81-87. ISSN 0002-9297

Shao, K., Koch, C., Gupta, M., Lin, Q., Lenz, M., Laufs, S., Denecke, B., Schmidt, M., Linke, M., Hennies, H., Hescheler, J., Zenke, M., Zechner, U., Saric, T. and Wagner, W. (2013) ‘Induced pluripotent mesenchymal stromal cell clones retain donor-derived differences in DNA methylation profilesMolecular Therapy—Nucleic Acids , 21 (1), pp. 240-250. ISSN 2162-2531

2012

Jansen, P., van den Bogaard, E., Kersten, F., Oostendorp, C., van Vlijmen-Willems, I., Oji, V., Traupe, H., Hennies, H., Schalkwijk, J. and Zeeuwen, P. (2012) ‘Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalentsExperimental dermatology , 21 (11), pp. 889-891. ISSN 1600-0625

Aufenvenne, K., Rice, R., Hausser, I., Oji, V., Hennies, H., Rio, M., Traupe, H. and Larcher, F. (2012) ‘Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studiesJournal of Investigative Dermatology , 132 (7), pp. 1918-1921. ISSN 0022-202X

Hussain, M., Baig, S., Neumann, S., N�rnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H., Technau, M., Altm�ller, J., Frommolt, P., Thiele, H., Noegel, A. and N�rnberg, P. (2012) ‘A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal functionThe American Journal of Human Genetics , 90 (5), pp. 871-878. ISSN 0002-9297

Blaydon, D., Etheridge, S., Risk, J., Hennies, H., Gay, L., Carroll, R., Plagnol, V., McRonald, F., Stevens, H., Spurr, N., Bishop, D., Ellis, A., Jankowski, J., Field, J., Leigh, I., South, A. and Kelsell, D. (2012) ‘RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndromeThe American Journal of Human Genetics , 90 (2), pp. 340-346. ISSN 0002-9297

2011

Fatima, A., Xu, G., Shao, K., Papadopoulos, S., Lehmann, M., Arnaiz-Cot, J., Rosa, A., Nguemo, F., Matzkies, M., Dittmann, S., Stone, S., Linke, M., Zechner, U., Beyer, V., Hennies, H., Rosenkranz, S., Klauke, B., Parwani, A., Haverkamp, W., Pfitzer, G., Farr, M., Cleemann, L., Morad, M., Milting, H., Hescheler, J. and Saric, T. (2011) ‘In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cellsCellular Physiology and Biochemistry , 28 (4), pp. 579-592. ISSN 1015-8987

Dolmans, G. and Hennies, H. (2011) ‘The genetic basis of Dupuytren's disease’. In: Morbus Dupuytren and related hyperproliferative disorders. Heidelberg: Springer. pp. 89-91. ISBN 978-3-642-22696-0

Seifert, W., K�hnisch, J., Maritzen, T., Horn, D., Haucke, V. and Hennies, H. (2011) ‘The Cohen syndrome-associated protein COH1 is a novel giant golgi matrix protein required for golgi integrityJournal of Biological Chemistry , 286 (43), pp. 37665-37675. ISSN 0021-9258

Forstbauer, L., Brockschmidt, F., Moskvina, V., Herold, C., Redler, S., Herzog, A., Hillmer, A., Meesters, C., Heilmann, S., Albert, F., Alblas, M., Hanneken, S., Eigelshoven, S., Giehl, K., Jagielska, D., Blume-Peytavi, U., Garcia Bartels, N., Kuhn, J., Hennies, H., Goebeler, M., Jung, A., Peitsch, W., Kortüm, A., Moll, I., Kruse, R., Lutz, G., Wolff, H., Blaumeiser, B., B�hm, M., Kirov, G., Becker, T., N�then, M. and Betz, R. (2011) ‘Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areataEuropean Journal of Human Genetics , 20 (3), pp. 326-332. ISSN 1018-4813

Blaydon, D., Nitoiu, D., Eckl, K., Cabral, R., Bland, P., Hausser, I., van Heel, D., Rajpopat, S., Fischer, J., Oji, V., Zvulunov, A., Traupe, H., Hennies, H. and Kelsell, D. (2011) ‘Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionThe American Journal of Human Genetics , 89 (4), pp. 564-571. ISSN 0002-9297

K�chler, S., Henkes, D., Eckl, K., Ackermann, K., Plendl, J., Korting, H., Hennies, H. and Sch�fer-Korting, M. (2011) ‘Hallmarks of atopic skin in vitro - Mimicked by the means of a skin disease model based on FLG knock downAlternatives to Laboratory Animals , 39 (5), pp. 471-480. ISSN 0261-1929

Eckl, K., Alef, T., Torres, S. and Hennies, H. (2011) ‘Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization DisordersJournal of Investigative Dermatology , 131 (9), pp. 1938-1942. ISSN 0022-202X

Nousbeck, J., Ishida-Yamamoto, A., Bidder, M., Fuchs, D., Eckl, K., Hennies, H., Sagiv, N., Gat, A., Gini, M., Filip, I., Matz, H., Goldberg, I., Enk, C., Sarig, O., Meilik, B., Aberdam, D., Gilhar, A. and Sprecher, E. (2011) ‘IGFBP7 as a Potential Therapeutic Target in PsoriasisJournal of Investigative Dermatology , 131 (8), pp. 1767-1770. ISSN 0022-202X

Dolmans, G., Werker, P., Hennies, H., Furniss, D., Festen, E., Franke, L., Becker, K., van der Vlies, P., Wolffenbuttel, B., Tinschert, S., Toliat, M., Nothnagel, M., Franke, A., Klopp, N., Wichmann, H., N�rnberg, P., Giele, H., Ophoff, R. and Wijmenga, C. (2011) ‘Wnt signaling and Dupuytren's diseaseNew England Journal of Medicine , 365 (4), pp. 307-317. ISSN 0028-4793

Gruber, R., Hennies, H., Romani, N. and Schmuth, M. (2011) ‘A Novel Homozygous Missense Mutation in SLURP1 Causing Mal de Meleda With an Atypical PhenotypeArchives of Dermatology , 147 (6), pp. 748-750. ISSN 0003-987X

Arweiler-Harbeck, D., Horsthemke, B., Jahnke, K. and Hennies, H. (2011) ‘Genetic Aspects of Familial Meniere's DiseaseOtology and Neurotology , 32 (4), pp. 695-700. ISSN 1531-7129

Furniss, D., Dolmans, G. and Hennies, H. (2011) ‘Genome-wide association scan of Dupuytren's diseaseJournal of Hand Surgery , 36 (4), pp. 755-756. ISSN 0363-5023

Fuchs-Telem, D., Stewart, H., Rapaport, D., Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, S., Eckl, K., Hennies, H., Sarig, O., Goldsher, D., Meilik, B., Ishida-Yamamoto, A., Horowitz, M. and Sprecher, E. (2011) ‘CEDNIK syndrome results from loss-of-function mutations in SNAP29British Journal of Dermatology , 164 (3), pp. 610-616. ISSN 0007-0963

2010

Oji, V., Tadini, G., Akiyama, M., Blanchet, B., Bodemer, C., Bourrat, E., Coudiere, P., DiGiovanna, J., Elias, P., Fischer, J., Fleckman, P., Gina, M., Harper, J., Hashimoto, T., Hausser, I., Hennies, H., Hohl, D., Hovnanian, A., Ishida-Yamamoto, A., Jacyk, W., Leachman, S., Leigh, I., Mazereeuw-Hautier, J., Milstone, L., Morice-Picard, F., Paller, A., Richard, G., Schmuth, M., Shimizu, H., Sprecher, E., Van, S., Taieb, A., Toro, J., Vabres, P., Vahlquist, A., Williams, M. and Traupe, H. (2010) ‘Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009Journal of American Academy of Dermatology , 63 (4), pp. 607-641. ISSN 0190-9622

Oji, V., Eckl, K., Aufenvenne, K., Natebus, M., Tarinski, T., Ackermann, K., Seller, N., Metze, D., N�rnberg, G., F�lster-Holst, R., Sch�fer-Korting, M., Hausser, I., Traupe, H. and Hennies, H. (2010) ‘Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin diseaseAmerican Journal of Human Genetics , 87 (2), pp. 274-281. ISSN 1537-6605

Trindade, F., Fiadeiro, T., Torrelo, A., Hennies, H., Hausser, I. and Traupe, H. (2010) ‘Bathing suit ichthyosisEuropean Journal Dermatology , 20 (4), pp. 447-450. ISSN 1167-1122

2009

Hennies, H. and Traupe, H. (2009) ‘Genetic skin disordersMedizinische Genetik , 21 (4), pp. 469-470. ISSN 0936-5931

Oji, V., Traupe, H. and Hennies, H. (2009) ‘Molecular characterization of ichthyoses. New aspects of terminology and classificationMedizinische Genetik , 21 (4), pp. 479-486. ISSN 0936-5931

Eckl, K. and Hennies, H. (2009) ‘Disease-specific skin models: In vitro models for the development of treatment approaches to inherited disorders of cornification as illustrated by congenital ichthyosisMedizinische Genetik , 21 (4), pp. 487-492. ISSN 0936-5931

Zur Stadt, U., Rohr, J., Seifert, W., Koch, F., Grieve, S., Pagel, J., Strauss, J., Kasper, B., N�rnberg, G., Becker, C., Maul-Pavicic, A., Beutel, K., Janka, G., Griffiths, G., Ehl, S. and Hennies, H. (2009) ‘Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11American Journal of Human Genetics , 85 (4), pp. 482-492. ISSN 1537-6605

Basel-Vanagaite, L., Sarig, O., Hershkovitz, D., Fuchs-Telem, D., Rapaport, D., Gat, A., Isman, G., Shirazi, I., Shohat, M., Enk, C., Birk, E., Kohlhase, J., Matysiak-Scholze, U., Maya, I., Knopf, C., Peffekoven, A., Hennies, H., Bergman, R., Horowitz, M., Ishida-Yamamoto, A. and Sprecher, E. (2009) ‘RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndromeAmerican Journal of Human Genetics , 85 (2), pp. 254-263. ISSN 1537-6605

Aufenvenne, K., Oji, V., Walker, T., Becker-Pauly, C., Hennies, H., St�cker, W. and Traupe, H. (2009) ‘Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactionsJournal of Investigative Dermatology , 129 (8), pp. 2068-2071. ISSN 0022-202X

Eckl, K., de Juanes, S., Kurtenbach, J., Natebus, M., Lugassy, J., Oji, V., Traupe, H., Preil, M., Martinez-Vidal, F., Smolle, J., Harel, A., Krieger, P., Sprecher, E. and Hennies, H. (2009) ‘Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: Evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12BJournal of Investigative Dermatology , 129 (6), pp. 1421-1428. ISSN 0022-202X

Alef, T., Torres, S., Hausser, I., Metze, D., Tursen, U., Lestringant, G. and Hennies, H. (2009) ‘Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 Is associated with impaired profilaggrin processingJournal of Investigative Dermatology , 129 (4), pp. 862-869. ISSN 0022-202X

2008

Lugassy, J., Hennies, H., Indelman, M., Khamaysi, Z., Bergman, R. and Sprecher, E. (2008) ‘Rapid detection of homozygous mutations in congenital recessive ichthyosisArchives of Dermatological Research , 300 (2), pp. 81-85. ISSN 0340-3696

Seifert, W., Holder-Espinasse, M., K�hnisch, J., Kahrizi, K., Tzschach, A., Garshasbi, M., Najmabadi, H., Walter, K., Kress, W., Laureys, G., Loeys, B., Brilstra, E., Mancini, G., Dollfus, H., Dahan, K., Apse, K., Hennies, H. and Horn, D. (2008) ‘Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1Human Mutation , 30 (2), pp. 404-420. ISSN 1059-7794

Hennies, H., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., K�hnisch, J., Budde, B., Natebus, M., Brancati, F., Wilcox, W., Muller, D., Kaplan, P., Rajab, A., Zampino, G., Fodale, V., Dallapiccola, B., Newman, W., Metcalfe, K., Clayton-Smith, J., Tassabehji, M., Steinmann, B., Barr, F., N�rnberg, P., Wieacker, P. and Mundlos, S. (2008) ‘Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginNature Genetics , 40 (12), pp. 1410-1412. ISSN 1061-4036

Haenssle, H., Finkenrath, A., Hausser, I., Oji, V., Traupe, H., Hennies, H., Neumann, C. and Emmert, S. (2008) ‘Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosisClinical and Experimental Dermatology , 33 (5), pp. 578-581. ISSN 0307-6938

Stuhrmann, M., Hennies, H., Bukhari, I., Brakensiek, K., N�rnberg, G., Becker, C., Huebener, J., Miranda, M., Frye-Boukhriss, H., Knothe, S., Schmidtke, J. and El-Harith, E. (2008) ‘Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23Clinical Genetics , 73 (6), pp. 566-572. ISSN 0009-9163

Hillmer, A., Flaquer, A., Hanneken, S., Eigelshoven, S., Kortum, A., Brockschmidt, F., Golla, A., Metzen, C., Thiele, H., Kolberg, S., Reinartz, R., Betz, R., Ruzicka, T., Hennies, H., Kruse, R. and N�then, M. (2008) ‘Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26American Journal of Human Genetics , 82 (3), pp. 737-743. ISSN 1537-6605

2007

Kalay, E., Uzumcu, A., Krieger, E., Caylan, R., Uyguner, O., Ulubil-Emiroglu, M., Erdol, H., Kayserili, H., Hafiz, G., Baserer, N., Heister, A., Hennies, H., N�rnberg, P., Basaran, S., Brunner, H., Cremers, C., Karaguzel, A., Wollnik, B. and Kremer, H. (2007) ‘MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutationAmerican Journal of Medical Genetics. Part A , 143A (20), pp. 2382-2389. ISSN 1552-4825

Vago, B., Hausser, I., Hennies, H., Enk, A. and Jappe, U. (2007) ‘Hyalinosis cutis et mucosaeJournal der Deutschen Dermatologischen Gesellschaft , 5 (5), pp. 401-405. ISSN 1610-0379

Uyguner, O., Kayserili, H., Li, Y., Karaman, B., N�rnberg, G., Hennies, H., Becker, C., N�rnberg, P., Basaran, S., Apak, M. and Wollnik, B. (2007) ‘A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3Clinical Genetics , 71 (3), pp. 212-219. ISSN 0009-9163

2006

Cichon, S., Martin, L., Hennies, H., Muller, F., Van Driessche, K., Karpushova, A., Stevens, W., Colombo, R., Renne, T., Drouet, C., Bork, K. and N�then, M. (2006) ‘Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type IIIAmerican Journal of Human Genetics , 79 (6), pp. 1098-1104. ISSN 1537-6605

Gedicke, M., Traupe, H., Fischer, B., Tinschert, S. and Hennies, H. (2006) ‘Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literatureBritish Journal of Dermatology , 154 (1), pp. 167-171. ISSN 0007-0963

Hinkes, B., Wiggins, R., Gbadegesin, R., Vlangos, C., Seelow, D., N�rnberg, G., Garg, P., Verma, R., Chaib, H., Hoskins, B., Ashraf, S., Becker, C., Hennies, H., Goyal, M., Wharram, B., Schachter, A., Mudumana, S., Drummond, I., Kerjaschki, D., Waldherr, R., Dietrich, A., Ozaltin, F., Bakkaloglu, A., Cleper, R., Basel-Vanagaite, L., Pohl, M., Griebel, M., Tsygin, A., Soylu, A., Muller, D., Sorli, C., Bunney, T., Katan, M., Liu, J., Attanasio, M., O'toole, J., Hasselbacher, K., Mucha, B., Otto, E., Airik, R., Kispert, A., Kelley, G., Smrcka, A., Gudermann, T., Holzman, L., N�rnberg, P. and Hildebrandt, F. (2006) ‘Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleNature Genetics , 38 (12), pp. 1397-1405. ISSN 1061-4036

Vanita, V., Hennies, H., Singh, D., N�rnberg, P., Sperling, K. and Singh, J. (2006) ‘A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian originMolecular Vision , 12:121, pp. 1217-1222. ISSN 1090-0535

Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J., Richard, G. and Sprecher, E. (2006) ‘Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14American Journal of Human Genetics , 79 (4), pp. 724-730. ISSN 1537-6605

Oji, V., Hautier, J., Ahvazi, B., Hausser, I., Aufenvenne, K., Walker, T., Seller, N., Steijlen, P., K�ster, W., Hovnanian, A., Hennies, H. and Traupe, H. (2006) ‘Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotypeHuman Molecular Genetics , 15 (21), pp. 3083-3097. ISSN 0964-6906

Mizrachi-Koren, M., Shemer, S., Morganti, M., Indelman, M., Khamaysi, Z., Petronius, D., Bitterman-Deutsch, O., Hennies, H., Bergman, R. and Sprecher, E. (2006) ‘Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populationsJournal of American Academy of Dermatology , 55 (3), pp. 393-401. ISSN 0190-9622

F�rstenberger, G., Epp, N., Eckl, K., Hennies, H., Jorgensen, C., Hallenborg, P., Kristiansen, K. and Krieg, P. (2006) ‘Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiationProstaglandins Other Lipid Mediators , 82 (1-4), pp. 128-134.

Ellinor, P., Sasse-Klaassen, S., Probst, S., Gerull, B., Shin, J., Toeppel, A., Heuser, A., Michely, B., Yoerger, D., Song, B., Pilz, B., Krings, G., Coplin, B., Lange, P., Dec, G., Hennies, H., Thierfelder, L. and MacRae, C. (2006) ‘A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26Journal of the American College of Cardiology , 48 (1), pp. 106-111. ISSN 0735-1097

Sayer, J., Otto, E., O'toole, J., N�rnberg, G., Kennedy, M., Becker, C., Hennies, H., Helou, J., Attanasio, M., Fausett, B., Utsch, B., Khanna, H., Liu, Y., Drummond, I., Kawakami, I., Kusakabe, T., Tsuda, M., Ma, L., Lee, H., Larson, R., Allen, S., Wilkinson, C., Nigg, E., Shou, C., Lillo, C., Williams, D., Hoppe, B., Kemper, M., Neuhaus, T., Parisi, M., Glass, I., Petry, M., Kispert, A., Gloy, J., Ganner, A., Walz, G., Zhu, X., Goldman, D., N�rnberg, P., Swaroop, A., Leroux, M. and Hildebrandt, F. (2006) ‘The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4Nature Genetics , 38 (6), pp. 674-681. ISSN 1061-4036

Todt, I., Hennies, H., K�ster, W., Smolle, J., Rademacher, G., Mutze, S., Basta, D., Eisenschenk, A. and Ernst, A. (2006) ‘Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndromeAudiology Neurotology , 11 (4), pp. 242-248. ISSN 1420-3030

Vanita, V., Singh, J., Hejtmancik, J., N�rnberg, P., Hennies, H., Singh, D. and Sperling, K. (2006) ‘A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian familyMolecular Vision , 12, pp. 518-522. ISSN 1090-0535

Wolf, M., Mucha, B., Hennies, H., Attanasio, M., Panther, F., Zalewski, I., Karle, S., Otto, E., Deltas, C., Fuchshuber, A. and Hildebrandt, F. (2006) ‘Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharingHuman Genetics , 119 (6), pp. 649-658. ISSN 0340-6717

Vanita, V., Hejtmancik, J., Hennies, H., Guleria, K., N�rnberg, P., Singh, D., Sperling, K. and Singh, J. (2006) ‘Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian originMolecular Vision , 12, pp. 93-99. ISSN 1090-0535

Utsch, B., Sayer, J., Attanasio, M., Pereira, R., Eccles, M., Hennies, H., Otto, E. and Hildebrandt, F. (2006) ‘Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromePediatric Nephrology , 21 (1), pp. 32-35. ISSN 0931-041X

Seifert, W., Holder-Espinasse, M., Spranger, S., Hoeltzenbein, M., Rossier, E., Dollfus, H., Lacombe, D., Verloes, A., Chrzanowska, K., Maegawa, G., Chitayat, D., Kotzot, D., Huhle, D., Meinecke, P., Albrecht, B., Mathijssen, I., Leheup, B., Raile, K., Hennies, H. and Horn, D. (2006) ‘Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeJournal of Medical Genetics , 43 (5). ISSN 0022-2593

2005

Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G. and Hennies, H. (2005) ‘Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27AHuman Mutation , 27 (1), pp. 62-68. ISSN 1059-7794

Research Degree Supervision