174 related articles for article (PubMed ID: 16792776)
1. Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex.
Han S; Cooper DN; Bowden PE
Br J Dermatol; 2006 Jul; 155(1):201-3. PubMed ID: 16792776
[No Abstract] [Full Text] [Related]
2. Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
Rugg EL; Rachet-Préhu MO; Rochat A; Barrandon Y; Goossens M; Lane EB; Hovnanian A
Eur J Hum Genet; 1999 Apr; 7(3):293-300. PubMed ID: 10234505
[TBL] [Abstract][Full Text] [Related]
3. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut PH; Vlies Pv; Jonkman MF; Waanders E; Buys CH; Scheffer H
Hum Mutat; 2003 Apr; 21(4):447. PubMed ID: 12655565
[TBL] [Abstract][Full Text] [Related]
4. Gene symbol: KRT14. Disease: Epidermolysis bullosa simplex.
Schneider H; Muehle C
Hum Genet; 2005 Jul; 117(2-3):298. PubMed ID: 16156024
[No Abstract] [Full Text] [Related]
5. A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
Humphries MM; Sheils DM; Farrar GJ; Kumar-Singh R; Kenna PF; Mansergh FC; Jordan SA; Young M; Humphries P
Hum Mutat; 1993; 2(1):37-42. PubMed ID: 7682883
[TBL] [Abstract][Full Text] [Related]
6. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.
Credille KM; Barnhart KF; Minor JS; Dunstan RW
Br J Dermatol; 2005 Jul; 153(1):51-8. PubMed ID: 16029326
[TBL] [Abstract][Full Text] [Related]
7. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.
Csikós M; Szalai Z; Becker K; Sebõk B; Schneider I; Horváth A; Kárpáti S
Exp Dermatol; 2004 Mar; 13(3):185-91. PubMed ID: 14987259
[TBL] [Abstract][Full Text] [Related]
8. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
Müller FB; Küster W; Wodecki K; Almeida H; Bruckner-Tuderman L; Krieg T; Korge BP; Arin MJ
Hum Mutat; 2006 Jul; 27(7):719-20. PubMed ID: 16786515
[TBL] [Abstract][Full Text] [Related]
9. A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.
Liovic M; Bowden PE; Marks R; Komel R
Exp Dermatol; 2004 May; 13(5):332-4. PubMed ID: 15140024
[TBL] [Abstract][Full Text] [Related]
10. A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.
Flohil SC; Bolling MC; Kooi KA; Lemmink HH; Jonkman MF
Eur J Dermatol; 2010; 20(1):27-9. PubMed ID: 19797037
[TBL] [Abstract][Full Text] [Related]
11. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
Corden LD; Mellerio JE; Gratian MJ; Eady RA; Harper JI; Lacour M; Magee G; Lane EB; McGrath JA; McLean WH
Hum Mutat; 1998; 11(4):279-85. PubMed ID: 9554744
[TBL] [Abstract][Full Text] [Related]
12. A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.
Indelman M; Bergman R; Sprecher E
J Invest Dermatol; 2005 Jan; 124(1):272-4. PubMed ID: 15654986
[No Abstract] [Full Text] [Related]
13. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
Dong W; Ryynänen M; Uitto J
Hum Mutat; 1993; 2(2):94-102. PubMed ID: 7686424
[TBL] [Abstract][Full Text] [Related]
14. Gene symbol: KRT14. Disease: epidermolysis bullosa simplex, Koebner.
Lanschuetzer CM; Klausegger A; Pohla-Gubo G; Hametner R; Richard G; Uitto J; Hintner H; Bauer JW
Hum Genet; 2004 Jul; 115(2):171. PubMed ID: 15300974
[No Abstract] [Full Text] [Related]
15. A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.
Li JG; Feng J; Xiao SX; Ai YL; Wang JM; Peng ZH
Clin Exp Dermatol; 2004 Sep; 29(5):539-41. PubMed ID: 15347343
[TBL] [Abstract][Full Text] [Related]
16. Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
Müller FB; Küster W; Bruckner-Tuderman L; Korge BP
J Invest Dermatol; 1998 Nov; 111(5):900-2. PubMed ID: 9804357
[TBL] [Abstract][Full Text] [Related]
17. A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.
Li XL; Xiao SX; Peng ZH; Liu Y; Pan M; Zhou SN
J Eur Acad Dermatol Venereol; 2007 Aug; 21(7):979-81. PubMed ID: 17659012
[No Abstract] [Full Text] [Related]
18. Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
Shemanko CS; Mellerio JE; Tidman MJ; Lane EB; Eady RA
J Invest Dermatol; 1998 Nov; 111(5):893-5. PubMed ID: 9804355
[TBL] [Abstract][Full Text] [Related]
19. A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.
Gu LH; Ichiki Y; Sato M; Kitajima Y
J Dermatol; 2002 Mar; 29(3):136-45. PubMed ID: 11990248
[TBL] [Abstract][Full Text] [Related]
20. [Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
Sørensen CB; Ladekjaer-Mikkelsen AS; Andresen BS; Brandrup F; Veien NK; Buus SK; Anton-Lamprecht I; Kruse T; Jensen PK; Eiberg H; Bolund L; Gregersen N
Ugeskr Laeger; 2000 Mar; 162(13):1873-6. PubMed ID: 10765693
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
