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Results: 1 to 20 of 403

1.

Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.

Sprecher E, Ishida-Yamamoto A, Becker OM, Marekov L, Miller CJ, Steinert PM, Neldner K, Richard G.

J Invest Dermatol. 2001 Apr;116(4):511-9.

PMID:
11286616
[PubMed - indexed for MEDLINE]
Free Article
2.

Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.

Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G.

J Invest Dermatol. 2003 Apr;120(4):623-6.

PMID:
12648226
[PubMed - indexed for MEDLINE]
Free Article
4.

Lessons from disorders of epidermal differentiation-associated keratins.

Ishida-Yamamoto A, Takahashi H, Iizuka H.

Histol Histopathol. 2002 Jan;17(1):331-8. Review.

PMID:
11813882
[PubMed - indexed for MEDLINE]
5.

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro.

Coulombe PA, Chan YM, Albers K, Fuchs E.

J Cell Biol. 1990 Dec;111(6 Pt 2):3049-64.

PMID:
1702787
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA.

J Invest Dermatol. 2002 May;118(5):838-44.

PMID:
11982762
[PubMed - indexed for MEDLINE]
Free Article
7.

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E.

J Cell Sci. 1994 Apr;107 ( Pt 4):765-74.

PMID:
7520042
[PubMed - indexed for MEDLINE]
Free Article
8.

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.

Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP.

J Invest Dermatol. 2001 Apr;116(4):606-9.

PMID:
11286630
[PubMed - indexed for MEDLINE]
Free Article
9.

Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin.

Bonifas JM, Bare JW, Chen MA, Ranki A, Neimi KM, Epstein EH Jr.

J Invest Dermatol. 1993 Dec;101(6):890-1.

PMID:
7504030
[PubMed - indexed for MEDLINE]
10.

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.

Takizawa Y, Akiyama M, Nagashima M, Shimizu H.

J Invest Dermatol. 2000 Jan;114(1):193-5.

PMID:
10620137
[PubMed - indexed for MEDLINE]
Free Article
11.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

Exp Dermatol. 1996 Dec;5(6):297-307. Review.

PMID:
9028791
[PubMed - indexed for MEDLINE]
12.

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG.

J Invest Dermatol. 1994 Dec;103(6):764-9.

PMID:
7528239
[PubMed - indexed for MEDLINE]
13.

Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation.

Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S.

FEBS Lett. 1996 May 20;386(2-3):149-55.

PMID:
8647270
[PubMed - indexed for MEDLINE]
Free Article
14.

The molecular genetics of keratin disorders.

Smith F.

Am J Clin Dermatol. 2003;4(5):347-64. Review.

PMID:
12688839
[PubMed - indexed for MEDLINE]
15.

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.

J Invest Dermatol. 1995 Mar;104(3):430-3.

PMID:
7532199
[PubMed - indexed for MEDLINE]
16.

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.

Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H.

J Biol Chem. 2002 Jun 28;277(26):23670-4. Epub 2002 Apr 24.

PMID:
11973334
[PubMed - indexed for MEDLINE]
Free Article
17.

Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.

Virtanen M, Smith SK, Gedde-Dahl T Jr, Vahlquist A, Bowden PE.

J Invest Dermatol. 2003 Nov;121(5):1013-20.

PMID:
14708600
[PubMed - indexed for MEDLINE]
Free Article
18.

Ichthyosis bullosa of Siemens--a disease involving keratin 2e.

McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG, Harper JI, Higgins C, Leigh IM.

J Invest Dermatol. 1994 Sep;103(3):277-81.

PMID:
7521371
[PubMed - indexed for MEDLINE]
19.

Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.

Yang JM, Chipev CC, DiGiovanna JJ, Bale SJ, Marekov LN, Steinert PM, Compton JG.

J Invest Dermatol. 1994 Jan;102(1):17-23.

PMID:
7507151
[PubMed - indexed for MEDLINE]
20.

Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.

Lee JH, Ahn KS, Lee CH, Youn SJ, Kim JW, Lee DY, Lee ES, Steinert PM, Yang JM.

Exp Dermatol. 2003 Dec;12(6):876-81.

PMID:
14675368
[PubMed - indexed for MEDLINE]

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