Hohl D - Search Results

1

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.

Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Among authors: hohl d. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663

2

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR. Rothnagel JA, et al. Among authors: hohl d. Science. 1992 Aug 21;257(5073):1128-30. doi: 10.1126/science.257.5073.1128. Science. 1992. PMID: 1380725

3

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.

Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, Huber M, Hohl D, Roop DR. Rothnagel JA, et al. Among authors: hohl d. Hum Mol Genet. 1993 Dec;2(12):2147-50. doi: 10.1093/hmg/2.12.2147. Hum Mol Genet. 1993. PMID: 7509230

4

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.

Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR. Rothnagel JA, et al. Among authors: hohl d. Nat Genet. 1994 Aug;7(4):485-90. doi: 10.1038/ng0894-485. Nat Genet. 1994. PMID: 7524919

5

Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

Rothnagel JA, Wojcik S, Liefer KM, Dominey AM, Huber M, Hohl D, Roop DR. Rothnagel JA, et al. Among authors: hohl d. J Invest Dermatol. 1995 Mar;104(3):430-3. doi: 10.1111/1523-1747.ep12666018. J Invest Dermatol. 1995. PMID: 7532199 Free article.

6

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Smith FJ, et al. Among authors: hohl d. J Invest Dermatol. 1997 Feb;108(2):220-3. doi: 10.1111/1523-1747.ep12335315. J Invest Dermatol. 1997. PMID: 9008238 Free article.

7

Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity.

Petit E, Huber M, Rochat A, Bodemer C, Teillac-Hamel D, Müh JP, Revuz J, Barrandon Y, Lathrop M, de Prost Y, Hohl D, Hovnanian A. Petit E, et al. Among authors: hohl d. Eur J Hum Genet. 1997 Jul-Aug;5(4):218-28. Eur J Hum Genet. 1997. PMID: 9359043

8

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Richard G, et al. Among authors: hohl d. Nat Genet. 1998 Dec;20(4):366-9. doi: 10.1038/3840. Nat Genet. 1998. PMID: 9843209

9

An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.

Arin MJ, Longley MA, Küster W, Huber M, Hohl D, Rothnagel JA, Roop DR. Arin MJ, et al. Among authors: hohl d. Exp Dermatol. 1999 Apr;8(2):124-7. doi: 10.1111/j.1600-0625.1999.tb00359.x. Exp Dermatol. 1999. PMID: 10232403

10

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

Ruiz-Perez VL, Carter SA, Healy E, Todd C, Rees JL, Steijlen PM, Carmichael AJ, Lewis HM, Hohl D, Itin P, Vahlquist A, Gobello T, Mazzanti C, Reggazini R, Nagy G, Munro CS, Strachan T. Ruiz-Perez VL, et al. Among authors: hohl d. Hum Mol Genet. 1999 Sep;8(9):1621-30. doi: 10.1093/hmg/8.9.1621. Hum Mol Genet. 1999. PMID: 10441324

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