410 related articles for article (PubMed ID: 11286616)
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. PubMed ID: 11286616
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 12648226
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson ES; Lee JB; Hyde PH; Richard G
J Invest Dermatol; 2006 Jan; 126(1):79-84. PubMed ID: 16417221
[TBL] [Abstract][Full Text] [Related]
4. Lessons from disorders of epidermal differentiation-associated keratins.
Ishida-Yamamoto A; Takahashi H; Iizuka H
Histol Histopathol; 2002 Jan; 17(1):331-8. PubMed ID: 11813882
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 11982762
[TBL] [Abstract][Full Text] [Related]
6. A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.
Yang Z; Xu Z; Zhang N; Ma L
Clin Exp Dermatol; 2020 Aug; 45(6):719-721. PubMed ID: 32049370
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 11286630
[TBL] [Abstract][Full Text] [Related]
8. 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
J Invest Dermatol; 1993 Dec; 101(6):890-1. PubMed ID: 7504030
[TBL] [Abstract][Full Text] [Related]
9. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
Terrinoni A; Didona B; Caporali S; Chillemi G; Lo Surdo A; Paradisi M; Annichiarico-Petruzzelli M; Candi E; Bernardini S; Melino G
PLoS One; 2018; 13(4):e0195792. PubMed ID: 29689068
[TBL] [Abstract][Full Text] [Related]
10. 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; 386(2-3):149-55. PubMed ID: 8647270
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 1702787
[TBL] [Abstract][Full Text] [Related]
12. Keratins and skin disorders.
Lane EB; McLean WH
J Pathol; 2004 Nov; 204(4):355-66. PubMed ID: 15495218
[TBL] [Abstract][Full Text] [Related]
13. The molecular genetics of keratin disorders.
Smith F
Am J Clin Dermatol; 2003; 4(5):347-64. PubMed ID: 12688839
[TBL] [Abstract][Full Text] [Related]
14. 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; Vahlquist A; Bowden PE
J Invest Dermatol; 2003 Nov; 121(5):1013-20. PubMed ID: 14708600
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 7521371
[TBL] [Abstract][Full Text] [Related]
16. Ichthyosis hystrix Curth-Macklin type in an African girl.
Yusuf SM; Mijinyawa MS; Maiyaki MB; Mohammed AZ
Int J Dermatol; 2009 Dec; 48(12):1343-5. PubMed ID: 20415675
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 10620137
[TBL] [Abstract][Full Text] [Related]
18. 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
Nat Genet; 1994 Aug; 7(4):485-90. PubMed ID: 7524919
[TBL] [Abstract][Full Text] [Related]
19. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.
Choate KA; Lu Y; Zhou J; Elias PM; Zaidi S; Paller AS; Farhi A; Nelson-Williams C; Crumrine D; Milstone LM; Lifton RP
J Clin Invest; 2015 Apr; 125(4):1703-7. PubMed ID: 25774499
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 7528239
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
