Huber M - Search Results

1

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.

Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet DF, Hohl D, Huber M. Macari F, et al. Among authors: huber m. Am J Hum Genet. 2000 Nov;67(5):1296-301. doi: 10.1016/S0002-9297(07)62957-7. Epub 2000 Oct 3. Am J Hum Genet. 2000. PMID: 11017804 Free PMC article.

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: huber m. 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: huber m. Hum Mol Genet. 1993 Dec;2(12):2147-50. doi: 10.1093/hmg/2.12.2147. Hum Mol Genet. 1993. PMID: 7509230

4

Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations.

Huber M, Scaletta C, Benathan M, Frenk E, Greenhalgh DA, Rothnagel JA, Roop DR, Hohl D. Huber M, et al. J Invest Dermatol. 1994 May;102(5):691-4. doi: 10.1111/1523-1747.ep12374270. J Invest Dermatol. 1994. PMID: 7513736 Free article.

5

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: huber m. Nat Genet. 1994 Aug;7(4):485-90. doi: 10.1038/ng0894-485. Nat Genet. 1994. PMID: 7524919

6

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: huber m. J Invest Dermatol. 1995 Mar;104(3):430-3. doi: 10.1111/1523-1747.ep12666018. J Invest Dermatol. 1995. PMID: 7532199 Free article.

7

Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase.

Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D. Huber M, et al. J Invest Dermatol. 1995 Nov;105(5):653-4. doi: 10.1111/1523-1747.ep12324122. J Invest Dermatol. 1995. PMID: 7594637 Free article.

8

The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins.

Hohl D, de Viragh PA, Amiguet-Barras F, Gibbs S, Backendorf C, Huber M. Hohl D, et al. Among authors: huber m. J Invest Dermatol. 1995 Jun;104(6):902-9. doi: 10.1111/1523-1747.ep12606176. J Invest Dermatol. 1995. PMID: 7769256 Free article.

9

Involucrin mRNA is more abundant in human hair follicles than in normal epidermis.

de Viragh PA, Huber M, Hohl D. de Viragh PA, et al. Among authors: huber m. J Invest Dermatol. 1994 Dec;103(6):815-9. doi: 10.1111/1523-1747.ep12413482. J Invest Dermatol. 1994. PMID: 7798621 Free article.

10

Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D. Huber M, et al. Science. 1995 Jan 27;267(5197):525-8. doi: 10.1126/science.7824952. Science. 1995. PMID: 7824952

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