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Publications - Dermatogenetics Group

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2015

 

2014

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., and Schäfer-Korting, M. (2014). Penetration of normal, damaged and diseased skin--an in vitro study on dendritic core-multishell nanotransporters. J Control Release 185, 45-50.

Cunha, D.L., Eckl, K.M., Rauch, M., Casper, R., Gupta, M., Nurnberg, P., Schmuth, M., Zschocke, J., Saric, T., and Hennies, H.C. (2014). Generation and characterization of induced Pluripotent Stem (iPS) cells from Autosomal Recessive Congenital Ichthyosis patients - a new model system to study rare keratinization disorders. J Invest Dermatol 134, S34-S34.

Eckl, K.M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M.R., Haag, R., Hennies, H.C., and Schäfer-Korting, M. (2014). Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Exp Dermatol 23, 286-288.

Egbert, M.R., Fischer, J., Schlipf, N.A., Hennies, H.C., Hausser-Siller, I., Traupe, H., and Oji, V. (2014). Vitamin D status in different forms of ichthyosis in Germany: differences depending on the severity of hyperkeratosis and/or erythema and high prevalence of 25OHD deficiency and hyperparathyreoidism. J Dtsch Dermatol Ges 12 2, 4-5.

Gruber, R., Bornchen, C., Rose, K., Peters, E.M., Daubmann, A., Danso, M., Bouwstra, J.A., Hennies, H.C., Schmuth, M., and Brandner, J.M. (2014). Central role of Claudin-1 in lesional but not in non-lesional atopic dermatitis. J Invest Dermatol 134 2, S44-S44.

Schiller, S., Seebode, C., Hennies, H.C., Giehl, K., and Emmert, S. (2014). Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. J Dtsch Dermatol Ges 12, 781-788.

 

2013

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M., Onal-Akan, A., Stock, F., Altmuller, J., Nurnberg, P., Traupe, H., Futerman, A.H., and Hennies, H.C. (2013). Mutations in CERS3 lead to autosomal recessive ichthyosis and demonstrate the importance of ceramides in healthy and ichthyotic skin. Journal of Investigative Dermatology 133, S138-S138.

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Onal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nurnberg, G., Altmuller, J., Nurnberg, P., Traupe, H., Futerman, A.H., and Hennies, H.C. (2013). Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length. Journal of Investigative Dermatology 133, 2202-2211.

Hartz, T., Hennies, H., Oji, V., Schmidtmann, I., Kiekbusch, K., Kleinow, B., Aufenvenne, K., Uckert, F., and Traupe, H. (2013). The prevalence of autosomal recessive congenital ichthyosis and of transglutaminase-1 deficiency in Germany: Calculation of estimates using the three-source capture-recapture method. Journal of Investigative Dermatology 133, S91-S91.

Hennies, H.C., Onal-Akan, A., Lechner, S., Preil, M., Hamm, H., Kelsell, D.P., and Emmert, S. (2013). Mutations in AAGAB demonstrate genetic and allelic heterogeneity of punctate palmoplantar keratoderma but do not explain phenotype variability. Journal of Investigative Dermatology 133, S137-S137.

Nellen, R.G.L., Steijlen, P.M., Hennies, H.C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A.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 gene. British Journal of Dermatology 168, 1372-1374.

Pasternack, S.M., Refke, M., Paknia, E., Hennies, H.C., Franz, T., Schafer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Nothen, M.M., Fischer, U., and Betz, R.C. (2013). Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal dominant hypotrichosis simplex. Journal of Investigative Dermatology 133, 1415-1415.

Pasternack, S.M., Refke, M., Paknia, E., Hennies, H.C., Franz, T., Schafer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Nothen, M.M., Fischer, U., and Betz, R.C. (2013). Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex. American journal of human genetics 92, 81-87.

Shao, K.F., 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., Saric, T., and Wagner, W. (2013). Induced Pluripotent Mesenchymal Stromal Cell Clones Retain Donor-derived Differences in DNA Methylation Profiles. Mol Ther 21, 240-250.

Tjandra, E., Hausser, I., Eckl, K., Hennies, H.C., and Oji, V. (2013). Palmoplantar Keratoderma and Ichthyosis: Confirmation of Mutation in POMP in CLICK-Syndrome. J Dtsch Dermatol Ges 11, 1121-1121.

 

2012

Aufenvenne,K., Rice,R.H., Hausser,I., Oji,V., Hennies,H.C., Rio,M.D., 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 studies. J Invest Dermatol. 132, 1918-1921.

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., and Kelsell,D.P. (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet. 90, 340-346.

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., 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., and Betz,R.C. (2012). Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet. 20, 326-332.

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., and Nürnberg,P. (2012). A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 90, 871-878.

Jansen,P.A., van den Bogaard,E.H., Kersten,F.F., Oostendorp,C., van Vlijmen-Willems,I.M., Oji,V., Traupe,H., Hennies,H.C., Schalkwijk,J., and Zeeuwen,P.L. (2012). Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents. Exp Dermatol. 21, 889-891.

 

2011

Arweiler-Harbeck,D., Horsthemke,B., Jahnke,K., and Hennies,H.C. (2011). Genetic Aspects of Familial Meniere's Disease. Otology & Neurotology 32, 695-700.

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., and Kelsell,D.P. (2011). Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion. American Journal of Human Genetics 89, 564-571.

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., Nurnberg,P., Giele,H., Ophoff,R.A., and Wijmenga,C. (2011). Wnt Signaling and Dupuytren's Disease. New England Journal of Medicine 365, 307-317.

Eckl,K.M., Alef,T., Torres,S., and Hennies,H.C. (2011). Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization Disorders. Journal of Investigative Dermatology 131, 1938-1942.

Fatima,A., Xu,G.X., Shao,K.F., Papadopoulos,S., Lehmann,M., rnaiz-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., 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 Cells. Cellular Physiology and Biochemistry 28, 579-592.

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., and Sprecher,E. (2011). CEDNIK syndrome results from loss-of-function mutations in SNAP29. British Journal of Dermatology 164, 610-616.

Furniss,D., Dolmans,G.H.C.G., and Hennies,H.C. (2011). Genome-Wide Association Scan of Dupuytren's Disease. Journal of Hand Surgery-American Volume 36A, 755-756.

Gruber,R., Hennies,H.C., Romani,N., and Schmuth,M. (2011). A Novel Homozygous Missense Mutation in SLURP1 Causing Mal de Meleda With an Atypical Phenotype. Archives of Dermatology 147, 748-750.

Kuchler,S., Henkes,D., Eckl,K.M., Ackermann,K., Plendl,J., Korting,H.C., Hennies,H.C., and Schafer-Korting,M. (2011). Hallmarks of Atopic Skin Mimicked In Vitro by Means of a Skin Disease Model Based on FLG Knock-down. Atla-Alternatives to Laboratory Animals 39, 471-480.

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., and Sprecher,E. (2011). IGFBP7 as a Potential Therapeutic Target in Psoriasis. Journal of Investigative Dermatology 131, 1767-1770.

Seifert,W., Kuhnisch,J., Maritzen,T., Horn,D., Haucke,V., and Hennies,H.C. (2011). Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity. Journal of Biological Chemistry 286, 37665-37675.

 

2010

Oji,V., Eckl,K.M., Aufenvenne,K., Natebus,M., Tarinski,T., Ackermann,K., Seller,N., Metze,D., Nurnberg,G., Folster-Holst,R., Schafer-Korting,M., Hausser,I., Traupe,H., and Hennies,H.C. (2010). Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet. 87, 274-281.

Oji,V., Tadini,G., Akiyama,M., Blanchet,B.C., Bodemer,C., Bourrat,E., Coudiere,P., DiGiovanna,J.J., Elias,P., Fischer,J., Fleckman,P., Gina,M., Harper,J., Hashimoto,T., Hausser,I., Hennies,H.C., Hohl,D., Hovnanian,A., Ishida-Yamamoto,A., Jacyk,W.K., Leachman,S., Leigh,I., Mazereeuw-Hautier,J., Milstone,L., Morice-Picard,F., Paller,A.S., Richard,G., Schmuth,M., Shimizu,H., Sprecher,E., Van,S.M., Taieb,A., Toro,J.R., 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 2009. J Am Acad. Dermatol. 63, 607-641.

Trindade,F., Fiadeiro,T., Torrelo,A., Hennies,H.C., Hausser,I., and Traupe,H. (2010). Bathing suit ichthyosis. Eur J Dermatol. 20, 447-450.

 

2009

Alef,T., Torres,S., Hausser,I., Metze,D., Tursen,U., Lestringant,G.G., and Hennies,H.C. (2009). Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol. 129, 862-869.

Aufenvenne,K., Oji,V., Walker,T., Becker-Pauly,C., Hennies,H.C., Stocker,W., and Traupe,H. (2009). Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. J Invest Dermatol. 129, 2068-2071.

Basel-Vanagaite,L., Sarig,O., Hershkovitz,D., Fuchs-Telem,D., Rapaport,D., Gat,A., Isman,G., Shirazi,I., Shohat,M., Enk,C.D., Birk,E., Kohlhase,J., Matysiak-Scholze,U., Maya,I., Knopf,C., Peffekoven,A., Hennies,H.C., Bergman,R., Horowitz,M., Ishida-Yamamoto,A., and Sprecher,E. (2009). RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. Am J Hum Genet. 85, 254-263.

Eckl,K.M., de,J.S., Kurtenbach,J., Natebus,M., Lugassy,J., Oji,V., Traupe,H., Preil,M.L., Martinez,F., Smolle,J., Harel,A., Krieg,P., Sprecher,E., and Hennies,H.C. (2009). Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 129, 1421-1428.

Seifert,W., Holder-Espinasse,M., Kuhnisch,J., Kahrizi,K., Tzschach,A., Garshasbi,M., Najmabadi,H., Walter,K.A., Kress,W., Laureys,G., Loeys,B., Brilstra,E., Mancini,G.M., Dollfus,H., Dahan,K., Apse,K., Hennies,H.C., and Horn,D. (2009). Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat. 30, E404-E420.

zur Stadt,U., Rohr,J., Seifert,W., Koch,F., Grieve,S., Pagel,J., Strauss,J., Kasper,B., Nurnberg,G., Becker,C., Maul-Pavicic,A., Beutel,K., Janka,G., Griffiths,G., Ehl,S., and Hennies,H.C. (2009). Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 85, 482-492.

 

2008

Haenssle,H.A., Finkenrath,A., Hausser,I., Oji,V., Traupe,H., Hennies,H.C., Neumann,C., and Emmert,S. (2008). Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis. Clin Exp Dermatol. 33, 578-581.

Hennies,H.C., Kornak,U., Zhang,H., Egerer,J., Zhang,X., Seifert,W., Kuhnisch,J., Budde,B., Natebus,M., Brancati,F., Wilcox,W.R., Muller,D., Kaplan,P.B., Rajab,A., Zampino,G., Fodale,V., Dallapiccola,B., Newman,W., Metcalfe,K., Clayton-Smith,J., Tassabehji,M., Steinmann,B., Barr,F.A., Nurnberg,P., Wieacker,P., and Mundlos,S. (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet. 40, 1410-1412.

Hillmer,A.M., Flaquer,A., Hanneken,S., Eigelshoven,S., Kortum,A.K., Brockschmidt,F.F., Golla,A., Metzen,C., Thiele,H., Kolberg,S., Reinartz,R., Betz,R.C., Ruzicka,T., Hennies,H.C., Kruse,R., and Nothen,M.M. (2008). Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. Am J Hum Genet. 82, 737-743.

Lugassy,J., Hennies,H.C., Indelman,M., Khamaysi,Z., Bergman,R., and Sprecher,E. (2008). Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res. 300, 81-85.

Stuhrmann,M., Hennies,H.C., Bukhari,I.A., Brakensiek,K., Nurnberg,G., Becker,C., Huebener,J., Miranda,M.C., Frye-Boukhriss,H., Knothe,S., Schmidtke,J., and El-Harith,E.H. (2008). Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. Clin Genet. 73, 566-572.

 

2007

Furstenberger,G., Epp,N., Eckl,K.M., Hennies,H.C., Jorgensen,C., Hallenborg,P., Kristiansen,K., and Krieg,P. (2007). Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation. Prostaglandins Other Lipid Mediat. 82, 128-134.

Kalay,E., Uzumcu,A., Krieger,E., Caylan,R., Uyguner,O., Ulubil-Emiroglu,M., Erdol,H., Kayserili,H., Hafiz,G., Baserer,N., Heister,A.J., Hennies,H.C., Nurnberg,P., Basaran,S., Brunner,H.G., Cremers,C.W., Karaguzel,A., Wollnik,B., and Kremer,H. (2007). MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 143A, 2382-2389.

Uyguner,O., Kayserili,H., Li,Y., Karaman,B., Nurnberg,G., Hennies,H., Becker,C., Nurnberg,P., Basaran,S., Apak,M.Y., and Wollnik,B. (2007). A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clin Genet. 71, 212-219.

Vago,B., Hausser,I., Hennies,H.C., Enk,A., and Jappe,U. (2007). Hyalinosis cutis et mucosae. J Dtsch. Dermatol Ges. 5, 401-405.

 

2006

Cichon,S., Martin,L., Hennies,H.C., Muller,F., Van,D.K., Karpushova,A., Stevens,W., Colombo,R., Renne,T., Drouet,C., Bork,K., and Nothen,M.M. (2006). Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 79, 1098-1104.

Ellinor,P.T., Sasse-Klaassen,S., Probst,S., Gerull,B., Shin,J.T., Toeppel,A., Heuser,A., Michely,B., Yoerger,D.M., Song,B.S., Pilz,B., Krings,G., Coplin,B., Lange,P.E., Dec,G.W., Hennies,H.C., Thierfelder,L., and MacRae,C.A. (2006). A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26. J Am Coll. Cardiol. 48, 106-111.

Gedicke,M.M., Traupe,H., Fischer,B., Tinschert,S., and Hennies,H.C. (2006). Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol. 154, 167-171.

Hinkes,B., Wiggins,R.C., Gbadegesin,R., Vlangos,C.N., Seelow,D., Nurnberg,G., Garg,P., Verma,R., Chaib,H., Hoskins,B.E., Ashraf,S., Becker,C., Hennies,H.C., Goyal,M., Wharram,B.L., Schachter,A.D., 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.N., Soylu,A., Muller,D., Sorli,C.S., Bunney,T.D., Katan,M., Liu,J., Attanasio,M., O'toole,J.F., Hasselbacher,K., Mucha,B., Otto,E.A., Airik,R., Kispert,A., Kelley,G.G., Smrcka,A.V., Gudermann,T., Holzman,L.B., Nurnberg,P., and Hildebrandt,F. (2006). Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet. 38, 1397-1405.

Lugassy,J., Itin,P., Ishida-Yamamoto,A., Holland,K., Huson,S., Geiger,D., Hennies,H.C., Indelman,M., Bercovich,D., Uitto,J., Bergman,R., McGrath,J.A., Richard,G., and Sprecher,E. (2006). Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 79, 724-730.

Mizrachi-Koren,M., Shemer,S., Morgan,M., Indelman,M., Khamaysi,Z., Petronius,D., Bitterman-Deutsch,O., Hennies,H.C., Bergman,R., and Sprecher,E. (2006). Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. J Am Acad. Dermatol. 55, 393-401.

Oji,V., Hautier,J.M., Ahvazi,B., Hausser,I., Aufenvenne,K., Walker,T., Seller,N., Steijlen,P.M., Kuster,W., Hovnanian,A., Hennies,H.C., and Traupe,H. (2006). Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 15, 3083-3097.

Sayer,J.A., Otto,E.A., O'toole,J.F., Nurnberg,G., Kennedy,M.A., Becker,C., Hennies,H.C., Helou,J., Attanasio,M., Fausett,B.V., Utsch,B., Khanna,H., Liu,Y., Drummond,I., Kawakami,I., Kusakabe,T., Tsuda,M., Ma,L., Lee,H., Larson,R.G., Allen,S.J., Wilkinson,C.J., Nigg,E.A., Shou,C., Lillo,C., Williams,D.S., Hoppe,B., Kemper,M.J., Neuhaus,T., Parisi,M.A., Glass,I.A., Petry,M., Kispert,A., Gloy,J., Ganner,A., Walz,G., Zhu,X., Goldman,D., Nurnberg,P., Swaroop,A., Leroux,M.R., and Hildebrandt,F. (2006). The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 38, 674-681.

Seifert,W., Holder-Espinasse,M., Spranger,S., Hoeltzenbein,M., Rossier,E., Dollfus,H., Lacombe,D., Verloes,A., Chrzanowska,K.H., Maegawa,G.H., Chitayat,D., Kotzot,D., Huhle,D., Meinecke,P., Albrecht,B., Mathijssen,I., Leheup,B., Raile,K., Hennies,H.C., and Horn,D. (2006). Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 43, e22.

Todt,I., Hennies,H.C., Kuster,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 syndrome. Audiol. Neurootol. 11, 242-248.

Utsch,B., Sayer,J.A., Attanasio,M., Pereira,R.R., Eccles,M., Hennies,H.C., Otto,E.A., and Hildebrandt,F. (2006). Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr. Nephrol. 21, 32-35.

Vanita,V., Hennies,H.C., Singh,D., Nurnberg,P., Sperling,K., and Singh,J.R. (2006). A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol Vis. 12, 1217-1222.

Vanita,V., Singh,J.R., Hejtmancik,J.F., Nuernberg,P., Hennies,H.C., Singh,D., and Sperling,K. (2006). A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Mol Vis. 12, 518-522.

Vanita,V., Hejtmancik,J.F., Hennies,H.C., Guleria,K., Nurnberg,P., Singh,D., Sperling,K., and Singh,J.R. (2006). Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis. 12, 93-99.

Wolf,M.T., Mucha,B.E., Hennies,H.C., Attanasio,M., Panther,F., Zalewski,I., Karle,S.M., Otto,E.A., Deltas,C.C., Fuchshuber,A., and Hildebrandt,F. (2006). Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet. 119, 649-658.

zur Stadt,U., Beutel,K., Kolberg,S., Schneppenheim,R., Kabisch,H., Janka,G., and Hennies,H.C. (2006). Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat. 27, 62-68.

 

2005

Binder,B., Hennies,H.C., Kraschl,R., and Smolle,J. (2005). [Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome]. J Dtsch. Dermatol Ges. 3, 105-108.

Eckl,K.M., Krieg,P., Kuster,W., Traupe,H., Andre,F., Wittstruck,N., Furstenberger,G., and Hennies,H.C. (2005). Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 26, 351-361.

Hillmer,A.M., Hanneken,S., Ritzmann,S., Becker,T., Freudenberg,J., Brockschmidt,F.F., Flaquer,A., Freudenberg-Hua,Y., Jamra,R.A., Metzen,C., Heyn,U., Schweiger,N., Betz,R.C., Blaumeiser,B., Hampe,J., Schreiber,S., Schulze,T.G., Hennies,H.C., Schumacher,J., Propping,P., Ruzicka,T., Cichon,S., Wienker,T.F., Kruse,R., and Nothen,M.M. (2005). Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet. 77, 140-148.

Janecke,A.R., Hennies,H.C., Gunther,B., Gansl,G., Smolle,J., Messmer,E.M., Utermann,G., and Rittinger,O. (2005). GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet A. 133A, 128-131.

Kolde,G., Hennies,H.C., Bethke,G., and Reichart,P.A. (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. 52, 403-409.

Pichler,R., Stelzer,C., Berg,J., Holzinger,C., Eckl,K.M., Hennies,H.C., and Aubock,J. (2005). Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies. Arch Dermatol Res. 296, 585-587.

Todt,I., Hennies,H.C., Basta,D., and Ernst,A. (2005). Vestibular dysfunction of patients with mutations of Connexin 26. Neuroreport. 16, 1179-1181.

Tukel,T., Uzumcu,A., Gezer,A., Kayserili,H., Yuksel-Apak,M., Uyguner,O., Gultekin,S.H., Hennies,H.C., Nurnberg,P., Desnick,R.J., and Wollnik,B. (2005). A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 42, 408-415.

Wolf,M.T., Zalewski,I., Martin,F.C., Ruf,R., Muller,D., Hennies,H.C., Schwarz,S., Panther,F., Attanasio,M., Acosta,H.G., Imm,A., Lucke,B., Utsch,B., Otto,E., Nurnberg,P., Nieto,V.G., and Hildebrandt,F. (2005). Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol. Dial. Transplant. 20, 909-914.

zur Stadt,U., Schmidt,S., Kasper,B., Beutel,K., Diler,A.S., Henter,J.I., Kabisch,H., Schneppenheim,R., Nurnberg,P., Janka,G., and Hennies,H.C. (2005). Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 14, 827-834.

 

2004

Henneke,M., Wehner,L.E., Hennies,H.C., Preuss,N., and Gartner,J. (2004). Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome. Am J Med Genet A. 128A, 156-158.

Hennies,H.C., Rauch,A., Seifert,W., Schumi,C., Moser,E., Al-Taji,E., Tariverdian,G., Chrzanowska,K.H., Krajewska-Walasek,M., Rajab,A., Giugliani,R., Neumann,T.E., Eckl,K.M., Karbasiyan,M., Reis,A., and Horn,D. (2004). Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet. 75, 138-145.

Sasse-Klaassen,S., Probst,S., Gerull,B., Oechslin,E., Nurnberg,P., Heuser,A., Jenni,R., Hennies,H.C., and Thierfelder,L. (2004). Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation. 109, 2720-2723.

Thiele,H., McCann,C., van't,P.S., Schwabe,G.C., Hennies,H.C., Camera,G., Opitz,J., Laxova,R., Mundlos,S., and Nurnberg,P. (2004). Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. J Med Genet. 41, 213-218.

Wolf,M.T., van,V.B., Hennies,H.C., Zalewski,I., Karle,S.M., Puetz,M., Panther,F., Otto,E., Fuchshuber,A., Lameire,N., Loeys,B., and Hildebrandt,F. (2004). Telomeric refinement of the MCKD1 locus on chromosome 1q21. Kidney Int. 66, 580-585.

 

2003

Eckl,K.M., Stevens,H.P., Lestringant,G.G., Westenberger-Treumann,M., Traupe,H., Hinz,B., Frossard,P.M., Stadler,R., Leigh,I.M., Nurnberg,P., Reis,A., and Hennies,H.C. (2003). Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet. 112, 50-56.

Emmert,S., Kuster,W., Hennies,H.C., Zutt,M., Haenssle,H., Kretschmer,L., and Neumann,C. (2003). 47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. Eur J Dermatol. 13, 16-20.

Pilger,U., Hennies,H.C., Truschnegg,A., and Aberer,E. (2003). Late-onset Papillon-Lefevre syndrome without alteration of the cathepsin C gene. J Am Acad. Dermatol. 49, S240-S243.

Raghunath,M., Hennies,H.C., Ahvazi,B., Vogel,M., Reis,A., Steinert,P.M., and Traupe,H. (2003). Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol. 120, 224-228.

Ruf,R.G., Berkman,J., Wolf,M.T., Nurnberg,P., Gattas,M., Ruf,E.M., Hyland,V., Kromberg,J., Glass,I., Macmillan,J., Otto,E., Nurnberg,G., Lucke,B., Hennies,H.C., and Hildebrandt,F. (2003). A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. J Med Genet. 40, 515-519.

Ruf,R.G., Wolf,M.T., Hennies,H.C., Lucke,B., Zinn,C., Varnholt,V., Lichtenberger,A., Pasch,A., Imm,A., Briese,S., Lennert,T., Fuchshuber,A., Nurnberg,P., and Hildebrandt,F. (2003). A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. J Am Soc. Nephrol. 14, 1519-1522.

Tonnies,H., Hennies,H.C., Spohr,H.L., and Neitzel,H. (2003). Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques. Cytogenet. Genome Res. 103, 28-33.

 

2002

Appel,S., Filter,M., Reis,A., Hennies,H.C., Bergheim,A., Ogilvie,E., Arndt,S., Simmons,A., Lovett,M., Hide,W., Ramsay,M., Reichwald,K., Zimmermann,W., and Rosenthal,A. (2002). Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Eur J Hum Genet. 10, 17-25.

Kuster,W., Reis,A., and Hennies,H.C. (2002). Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation. Arch Dermatol Res. 294, 268-272.

Otto,E., Hoefele,J., Ruf,R., Mueller,A.M., Hiller,K.S., Wolf,M.T., Schuermann,M.J., Becker,A., Birkenhager,R., Sudbrak,R., Hennies,H.C., Nurnberg,P., and Hildebrandt,F. (2002). A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 71, 1161-1167.

van Geel,M., van Steensel,M.A., Kuster,W., Hennies,H.C., Happle,R., Steijlen,P.M., and Konig,A. (2002). HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol. 146, 938-942.

 

2001

Appel,S., Reichwald,K., Zimmermann,W., Reis,A., Rosenthal,A., and Hennies,H.C. (2001). Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23. Genomics. 75, 6-8.

Hunt,D.M., Rickman,L., Whittock,N.V., Eady,R.A., Simrak,D., Dopping-Hepenstal,P.J., Stevens,H.P., Armstrong,D.K., Hennies,H.C., Kuster,W., Hughes,A.E., Arnemann,J., Leigh,I.M., McGrath,J.A., Kelsell,D.P., and Buxton,R.S. (2001). Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet. 9, 197-203.

Krebsova,A., Kuster,W., Lestringant,G.G., Schulze,B., Hinz,B., Frossard,P.M., Reis,A., and Hennies,H.C. (2001). Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet. 69, 216-222.

Leal,A., Morera,B., Del,V.G., Heuss,D., Kayser,C., Berghoff,M., Villegas,R., Hernandez,E., Mendez,M., Hennies,H.C., Neundorfer,B., Barrantes,R., Reis,A., and Rautenstrauss,B. (2001). A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Am J Hum Genet. 68, 269-274.

Lestringant,G.G., Frossard,P.M., Eckl,K.M., Reis,A., and Hennies,H.C. (2001). Genetic and clinical heterogeneity in transgressive palmoplantar keratoderma. J Invest Dermatol. 116, 825-827.

Schmitt-Egenolf,M., Windemuth,C., Hennies,H.C., bis-Camps,M., von,E.B., Wienker,T., Reis,A., Traupe,H., and Blasczyk,R. (2001). Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA-Cw*0602-B*5701 in German families. Tissue Antigens. 57, 440-446.

Witt,H., Hennies,H.C., and Becker,M. (2001). SPINK1 mutations in chronic pancreatitis. Gastroenterology. 120, 1060-1061.

 

2000

Krebsova,A., Hamm,H., Karl,S., Reis,A., and Hennies,H.C. (2000). Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13. J Invest Dermatol. 115, 664-667.

Kuster,W., Hennies,H.C., and Happle,R. (2000). [Mapping and molecular analysis of hereditary skin diseases. The status of current research]. Hautarzt. 51, 906-914.

Witt,H., Luck,W., Hennies,H.C., Classen,M., Kage,A., Lass,U., Landt,O., and Becker,M. (2000). Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 25, 213-216.