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Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.
Eckl KM, Gruber R, Brennan L, Marriott A, Plank R, Moosbrugger-Martinz V, Blunder S, Schossig A, Altmüller J, Thiele H, Nürnberg P, Zschocke J, Hennies HC, Schmuth M. Eckl KM, et al. Among authors: hennies hc. Front Genet. 2021 Jul 12;12:689940. doi: 10.3389/fgene.2021.689940. eCollection 2021. Front Genet. 2021. PMID: 34322157 Free PMC article.
Telomeric refinement of the MCKD1 locus on chromosome 1q21.
Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F. Wolf MT, et al. Among authors: hennies hc. Kidney Int. 2004 Aug;66(2):580-5. doi: 10.1111/j.1523-1755.2004.00799.x. Kidney Int. 2004. PMID: 15253709 Free article.
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.
Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D. Hennies HC, et al. Am J Hum Genet. 2004 Jul;75(1):138-45. doi: 10.1086/422219. Epub 2004 May 20. Am J Hum Genet. 2004. PMID: 15154116 Free PMC article.
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, Başerer N, Heister AJ, Hennies HC, Nürnberg P, Başaran S, Brunner HG, Cremers CW, Karaguzel A, Wollnik B, Kremer H. Kalay E, et al. Among authors: hennies hc. Am J Med Genet A. 2007 Oct 15;143A(20):2382-9. doi: 10.1002/ajmg.a.31937. Am J Med Genet A. 2007. PMID: 17853461
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S. Hennies HC, et al. Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9. Nat Genet. 2008. PMID: 18997784 Free PMC article.
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.
Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I, Alef T, Hennies HC, Technau M, Altmüller J, Frommolt P, Thiele H, Noegel AA, Nürnberg P. Hussain MS, et al. Among authors: hennies hc. Am J Hum Genet. 2012 May 4;90(5):871-8. doi: 10.1016/j.ajhg.2012.03.016. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521416 Free PMC article.
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC. Eckl KM, et al. Among authors: hennies hc. J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2. J Invest Dermatol. 2013. PMID: 23549421 Free article.
140 results