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*Clone Cells

Shao, K., Koch, C., Gupta, M.K., Lin, Q., Lenz, M., Laufs, S., Denecke, B., Schmidt, M., Linke, M., Hennies, Hans 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. Molecular Therapy—Nucleic Acids, 21 (1). pp. 240-250. ISSN 2162-2531

3T3 Cells

Eckl, K.M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M.R., Haag, R., Hennies, Hans C. and Schäfer-Korting, M. (2014) Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Experimental dermatology, 23 (4). pp. 286-288. ISSN 1600-0625

5' Untranslated Regions

Vanita, V., Hejtmancik, J.F., Hennies, Hans C., Guleria, K., Nürnberg, 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. Molecular Vision, 12. pp. 93-99. ISSN 1090-0535

Abnormalities

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

Hennies, Hans C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, 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., Nürnberg, P., Wieacker, P. and Mundlos, S. (2008) Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40 (12). pp. 1410-1412. ISSN 1061-4036

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, Hans C. and Horn, D. (2006) Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Journal of Medical Genetics, 43 (5). ISSN 0022-2593

Todt, I., Hennies, Hans C., Küster, 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. Audiology Neurotology, 11 (4). pp. 242-248. ISSN 1420-3030

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

Vanita, V., Singh, J.R., Hejtmancik, J.F., Nürnberg, P., Hennies, Hans C., Singh, D. and Sperling, K. (2006) A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Molecular Vision, 12. pp. 518-522. ISSN 1090-0535

Acrylic Resins/*chemistry

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

Action Potentials

Fatima, A., Xu, G., Shao, K., Papadopoulos, S., Lehmann, M., Arnaiz-Cot, J.J., Rosa, A.O., Nguemo, F., Matzkies, M., Dittmann, S., Stone, S.L., Linke, M., Zechner, U., Beyer, V., Hennies, Hans 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 (4). pp. 579-592. ISSN 1015-8987

Activating Transcription Factor 4

Sayer, J.A. et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics, 38 (6). pp. 674-681. ISSN 1061-4036

Adipocytes

Fürstenberger, G., Epp, N., Eckl, K.M., Hennies, Hans C., Jorgensen, C., Hallenborg, P., Kristiansen, K. and Krieg, P. (2006) Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation. Prostaglandins Other Lipid Mediators, 82 (1-4). pp. 128-134.

Adolescent

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, Hans C., Bergman, R., Horowitz, M., Ishida-Yamamoto, A. and Sprecher, E. (2009) RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. American Journal of Human Genetics, 85 (2). pp. 254-263. ISSN 1537-6605

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, Hans C., Thierfelder, L. and MacRae, C.A. (2006) A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26. Journal of the American College of Cardiology, 48 (1). pp. 106-111. ISSN 0735-1097

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

Oji, V., Tadini, G., Akiyama, M., Blanchet, Bardon 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, Hans 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, Steensel 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. Journal of American Academy of Dermatology, 63 (4). pp. 607-641. ISSN 0190-9622

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

Adult

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. and Hennies, Hans C. (2015) The importance of genetic susceptibility in Dupuytren's disease. Clinical Genetics, 87 (5). pp. 483-487. ISSN 0009-9163

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, Hans C., Moll, I., Schmuth, M. and Brandner, J.M. (2015) Diverse regulation of claudin-1 and claudin-4 in atopic dermatitis. American Journal of Physical Anthropology, 185 (10). pp. 2777-2789. ISSN 0002-9483

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, Hans C., Kruse, R. and Nöthen, M.M. (2008) Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. American Journal of Human Genetics, 82 (3). pp. 737-743. ISSN 1537-6605

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

African Continental Ancestry Group

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

Age of Onset

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

albinism

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

Alleles

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, Hans 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. (2011) Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. European Journal of Human Genetics, 20 (3). pp. 326-332. ISSN 1018-4813

Alpha-Globulins/*genetics/metabolism

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

Alternative Splicing

Seifert, W., Holder-Espinasse, M., Kühnisch, J., Kahrizi, K., Tzschach, A., Garshasbi, M., Najmabadi, H., Walter, Kuss A., Kress, W., Laureys, G., Loeys, B., Brilstra, E., Mancini, G.M., Dollfus, H., Dahan, K., Apse, K., Hennies, Hans C. and Horn, D. (2008) Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Human Mutation, 30 (2). pp. 404-420. ISSN 1059-7794

Amino Acid Sequence

Blaydon, D.C., Etheridge, S.L., Risk, J.M., Hennies, Hans 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. The American Journal of Human Genetics, 90 (2). pp. 340-346. ISSN 0002-9297

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, Hans 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. The American Journal of Human Genetics, 89 (4). pp. 564-571. ISSN 0002-9297

analysis

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

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

Dolmans, G.H., Werker, P.M., Hennies, Hans 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. and Wijmenga, C. (2011) Wnt signaling and Dupuytren's disease. New England Journal of Medicine, 365 (4). pp. 307-317. ISSN 0028-4793

Eckl, K.M., de Juanes, S., Kurtenbach, J., Natebus, M., Lugassy, J., Oji, V., Traupe, H., Preil, M.L., Martinez-Vidal, F., Smolle, J., Harel, A., Krieger, P., Sprecher, E. and Hennies, Hans C. (2009) Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: Evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. Journal of Investigative Dermatology, 129 (6). pp. 1421-1428. ISSN 0022-202X

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

Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K.R., Huson, S., Geiger, D., Hennies, Hans 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. American Journal of Human Genetics, 79 (4). pp. 724-730. ISSN 1537-6605

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

Oji, V., Eckl, K.M., Aufenvenne, K., Natebus, M., Tarinski, T., Ackermann, K., Seller, N., Metze, D., Nürnberg, G., Fölster-Holst, R., Schäfer-Korting, M., Hausser, I., Traupe, H. and Hennies, Hans C. (2010) Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. American Journal of Human Genetics, 87 (2). pp. 274-281. ISSN 1537-6605

Vanita, V., Hennies, Hans C., Singh, D., Nürnberg, 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. Molecular Vision, 12:121. pp. 1217-1222. ISSN 1090-0535

Wolf, M.T., Mucha, B.E., Hennies, Hans 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. Human Genetics, 119 (6). pp. 649-658. ISSN 0340-6717

Animals

Aufenvenne, K., Rice, R.H., Hausser, I., Oji, V., Hennies, Hans 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. Journal of Investigative Dermatology, 132 (7). pp. 1918-1921. ISSN 0022-202X

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Önal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J., Nürnberg, P., Traupe, H., Futerman, A.H. and Hennies, Hans 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 (9). pp. 2202-2211. ISSN 0022-202X

Hinkes, B. et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nature Genetics, 38 (12). pp. 1397-1405. ISSN 1061-4036

Seifert, W., Kühnisch, J., Maritzen, T., Lommatzsch, S., Hennies, Hans C., 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 outgrowth. Journal of Biological Chemistry, 290 (6). pp. 3349-3358. ISSN 0021-9258

Antigens

Nellen, R.G., Steijlen, P.M., Hennies, Hans C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A. 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 (6). pp. 1372-1374. ISSN 0007-0963

AP3 complex

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

AP3δ

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

Base Sequence

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, Hans C., Nürnberg, 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. American Journal of Medical Genetics. Part A, 143A (20). pp. 2382-2389. ISSN 1552-4825

Binding

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

Blotting

Fuchs-Telem, D., Stewart, H., Rapaport, D., Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, S., Eckl, K.M., Hennies, Hans 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 (3). pp. 610-616. ISSN 0007-0963

Body fluid identification

Connolly, Jo-Ann and Williams, Graham (2011) Evaluating an MRNA based body fluid identification test using sybr green fluorescent dye and real-time PCR. International Journal of Criminal Investigation, 1 (4). pp. 177-185. ISSN 2247-0271

Carrier Proteins/*genetics/metabolism

Hussain, M.S., Baig, S.M., Neumann, S., Nürnberg, G., Farooq, M., Ahmad, I.A., Alef, T., Hennies, Hans 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. The American Journal of Human Genetics, 90 (5). pp. 871-878. ISSN 0002-9297

Cell Proliferation/drug effects

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

Child

Zur Stadt, U., Beutel, K., Kolberg, S., Schneppenheim, R., Kabisch, H., Janka, G. and Hennies, Hans C. (2005) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Human Mutation, 27 (1). pp. 62-68. ISSN 1059-7794

Chromosome Mapping

Uyguner, O., Kayserili, H., Li, Y., Karaman, B., Nürnberg, G., Hennies, Hans C., Becker, C., Nürnberg, 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. Clinical Genetics, 71 (3). pp. 212-219. ISSN 0009-9163

Chromosomes

Stuhrmann, M., Hennies, Hans C., Bukhari, I.A., Brakensiek, K., Nürnberg, 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. Clinical Genetics, 73 (6). pp. 566-572. ISSN 0009-9163

climate change migration molecular clock mtDNA phylogeography population expansions

Soares, Pedro, Rito, Teresa, Pereira, Luísa and Richards, Martin B. (2016) A Genetic Perspective on African Prehistory. In: Africa from MIS 6-2. Vertebrate Paleobiology and Paleoanthropology, IV . Springer, London, UK, pp. 383-405. ISBN 978-94-017-7519-9

congenital

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

Drug Carriers/analysis/*metabolism

Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Ruhl, E., Eckl, K.M., Merk, H.F., Hennies, Hans 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. Journal of Controlled Release, 185. pp. 45-50. ISSN 0168-3659

exome sequencing

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

Female

Pasternack, S.M., Refke, M., Paknia, E., Hennies, Hans C., Franz, T., Schäfer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Nöthen, 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. The American Journal of Human Genetics, 92 (1). pp. 81-87. ISSN 0002-9297

Forensic Genetics

Connolly, Jo-Ann and Williams, Graham (2011) Evaluating an MRNA based body fluid identification test using sybr green fluorescent dye and real-time PCR. International Journal of Criminal Investigation, 1 (4). pp. 177-185. ISSN 2247-0271

Genetic

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

Hennies, Hans C. and Traupe, H. (2009) Genetic skin disorders. Medizinische Genetik, 21 (4). pp. 469-470. ISSN 0936-5931

Genetic Markers/genetics

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

Hermansky-Pudlak syndrome

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

Human

Stuhrmann, M., Hennies, Hans C., Bukhari, I.A., Brakensiek, K., Nürnberg, 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. Clinical Genetics, 73 (6). pp. 566-572. ISSN 0009-9163

Ichthyosis

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

Infant

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Önal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J., Nürnberg, P., Traupe, H., Futerman, A.H. and Hennies, Hans 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 (9). pp. 2202-2211. ISSN 0022-202X

Fuchs-Telem, D., Stewart, H., Rapaport, D., Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, S., Eckl, K.M., Hennies, Hans 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 (3). pp. 610-616. ISSN 0007-0963

Hennies, Hans C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, 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., Nürnberg, P., Wieacker, P. and Mundlos, S. (2008) Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40 (12). pp. 1410-1412. ISSN 1061-4036

Hinkes, B. et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nature Genetics, 38 (12). pp. 1397-1405. ISSN 1061-4036

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

Oji, V., Tadini, G., Akiyama, M., Blanchet, Bardon 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, Hans 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, Steensel 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. Journal of American Academy of Dermatology, 63 (4). pp. 607-641. ISSN 0190-9622

Oji, V., Tadini, G., Akiyama, M., Blanchet, Bardon 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, Hans 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, Steensel 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. Journal of American Academy of Dermatology, 63 (4). pp. 607-641. ISSN 0190-9622

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

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

infection susceptibility

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

inflammatory skin diseases

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

Ly/*genetics

Nellen, R.G., Steijlen, P.M., Hennies, Hans C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A. 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 (6). pp. 1372-1374. ISSN 0007-0963

Missense

Gruber, R., Hennies, Hans 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 (6). pp. 748-750. ISSN 0003-987X

Molecular

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

mRNA

Connolly, Jo-Ann and Williams, Graham (2011) Evaluating an MRNA based body fluid identification test using sybr green fluorescent dye and real-time PCR. International Journal of Criminal Investigation, 1 (4). pp. 177-185. ISSN 2247-0271

Multiple/genetics/*pathology

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

mutations

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

nanoparticles

Eckl, K.M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M.R., Haag, R., Hennies, Hans C. and Schäfer-Korting, M. (2014) Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Experimental dermatology, 23 (4). pp. 286-288. ISSN 1600-0625

Nanoparticles/analysis/*metabolism

Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Ruhl, E., Eckl, K.M., Merk, H.F., Hennies, Hans 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. Journal of Controlled Release, 185. pp. 45-50. ISSN 0168-3659

Nanotoxicology

Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Ruhl, E., Eckl, K.M., Merk, H.F., Hennies, Hans 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. Journal of Controlled Release, 185. pp. 45-50. ISSN 0168-3659

neurodevelopmental delay

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

neutropenia

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

Newborn

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Önal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nürnberg, G., Altmüller, J., Nürnberg, P., Traupe, H., Futerman, A.H. and Hennies, Hans 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 (9). pp. 2202-2211. ISSN 0022-202X

Oji, V., Tadini, G., Akiyama, M., Blanchet, Bardon 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, Hans 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, Steensel 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. Journal of American Academy of Dermatology, 63 (4). pp. 607-641. ISSN 0190-9622

Pair 12

Stuhrmann, M., Hennies, Hans C., Bukhari, I.A., Brakensiek, K., Nürnberg, 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. Clinical Genetics, 73 (6). pp. 566-572. ISSN 0009-9163

Psoriasis

Nousbeck, J., Ishida-Yamamoto, A., Bidder, M., Fuchs, D., Eckl, K.M., Hennies, Hans 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 (8). pp. 1767-1770. ISSN 0022-202X

Real-Time PCR

Connolly, Jo-Ann and Williams, Graham (2011) Evaluating an MRNA based body fluid identification test using sybr green fluorescent dye and real-time PCR. International Journal of Criminal Investigation, 1 (4). pp. 177-185. ISSN 2247-0271

seizures

Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N.M., 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, Hans C. and Ehl, S. (2016) Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood, 127 (8). pp. 997-1006. ISSN 0006-4971

Skin

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

Küchler, S., Henkes, D., Eckl, K.M., Ackermann, K., Plendl, J., Korting, H.C., Hennies, Hans C. and Schäfer-Korting, M. (2011) Hallmarks of atopic skin in vitro - Mimicked by the means of a skin disease model based on FLG knock down. Alternatives to Laboratory Animals, 39 (5). pp. 471-480. ISSN 0261-1929

SYBR Green

Connolly, Jo-Ann and Williams, Graham (2011) Evaluating an MRNA based body fluid identification test using sybr green fluorescent dye and real-time PCR. International Journal of Criminal Investigation, 1 (4). pp. 177-185. ISSN 2247-0271

Western

Fuchs-Telem, D., Stewart, H., Rapaport, D., Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, S., Eckl, K.M., Hennies, Hans 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 (3). pp. 610-616. ISSN 0007-0963

This list was generated on Mon Dec 5 18:44:04 2016 UTC.

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