377 related articles for article (PubMed ID: 9185503)
1. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.
Ruzzi L; Gagnoux-Palacios L; Pinola M; Belli S; Meneguzzi G; D'Alessio M; Zambruno G
J Clin Invest; 1997 Jun; 99(12):2826-31. PubMed ID: 9185503
[TBL] [Abstract][Full Text] [Related]
2. Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia.
Micheloni A; De Luca N; Tadini G; Zambruno G; D'Alessio M
Br J Dermatol; 2004 Oct; 151(4):796-802. PubMed ID: 15491419
[TBL] [Abstract][Full Text] [Related]
3. Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin.
Takizawa Y; Shimizu H; Nishikawa T; Hatta N; Pulkkinen L; Uitto J
J Invest Dermatol; 1997 Jun; 108(6):943-6. PubMed ID: 9182827
[TBL] [Abstract][Full Text] [Related]
4. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.
Vidal F; Aberdam D; Miquel C; Christiano AM; Pulkkinen L; Uitto J; Ortonne JP; Meneguzzi G
Nat Genet; 1995 Jun; 10(2):229-34. PubMed ID: 7545057
[TBL] [Abstract][Full Text] [Related]
5. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4).
Masunaga T; Ishiko A; Takizawa Y; Kim SC; Lee JS; Nishikawa T; Shimizu H
Exp Dermatol; 2004 Jan; 13(1):61-4. PubMed ID: 15009117
[TBL] [Abstract][Full Text] [Related]
6. Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.
Pulkkinen L; Kurtz K; Xu Y; Bruckner-Tuderman L; Uitto J
Lab Invest; 1997 Jun; 76(6):823-33. PubMed ID: 9194858
[TBL] [Abstract][Full Text] [Related]
7. Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence.
Shimizu H; Suzumori K; Hatta N; Nishikawa T
Arch Dermatol; 1996 Aug; 132(8):919-25. PubMed ID: 8712842
[TBL] [Abstract][Full Text] [Related]
8. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
Dang N; Klingberg S; Rubin AI; Edwards M; Borelli S; Relic J; Marr P; Tran K; Turner A; Smith N; Murrell DF
Acta Derm Venereol; 2008; 88(5):438-48. PubMed ID: 18779879
[TBL] [Abstract][Full Text] [Related]
9. Hemidesmosome assembly assessed by expression of a wild-type integrin beta 4 cDNA in junctional epidermolysis bullosa keratinocytes.
Gagnoux-Palacios L; Gache Y; Ortonne JP; Meneguzzi G
Lab Invest; 1997 Nov; 77(5):459-68. PubMed ID: 9389789
[TBL] [Abstract][Full Text] [Related]
10. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
McGrath JA; Gatalica B; Christiano AM; Li K; Owaribe K; McMillan JR; Eady RA; Uitto J
Nat Genet; 1995 Sep; 11(1):83-6. PubMed ID: 7550320
[TBL] [Abstract][Full Text] [Related]
11. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.
Salvestrini C; McGrath JA; Ozoemena L; Husain K; Buhamrah E; Sabery N; Leichtner A; Rufo PA; Perez-Atayde A; Orteu CH; Torrente F; Heuschkel RB; Thomson MA; Murch SH
J Pediatr Gastroenterol Nutr; 2008 Nov; 47(5):585-91. PubMed ID: 18955862
[TBL] [Abstract][Full Text] [Related]
12. Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.
Allegra M; Gagnoux-Palacios L; Gache Y; Roques S; Lestringant G; Ortonne JP; Meneguzzi G
J Invest Dermatol; 2003 Dec; 121(6):1336-43. PubMed ID: 14675179
[TBL] [Abstract][Full Text] [Related]
13. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.
Posteraro P; Sorvillo S; Gagnoux-Palacios L; Angelo C; Paradisi M; Meneguzzi G; Castiglia D; Zambruno G
Biochem Biophys Res Commun; 1998 Feb; 243(3):758-64. PubMed ID: 9501007
[TBL] [Abstract][Full Text] [Related]
14. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.
Vidal F; Baudoin C; Miquel C; Galliano MF; Christiano AM; Uitto J; Ortonne JP; Meneguzzi G
Genomics; 1995 Nov; 30(2):273-80. PubMed ID: 8586427
[TBL] [Abstract][Full Text] [Related]
15. Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia.
Brown TA; Gil SG; Sybert VP; Lestringant GG; Tadini G; Caputo R; Carter WG
J Invest Dermatol; 1996 Sep; 107(3):384-91. PubMed ID: 8751975
[TBL] [Abstract][Full Text] [Related]
16. Keratinocytes display normal proliferation, survival and differentiation in conditional beta4-integrin knockout mice.
Raymond K; Kreft M; Janssen H; Calafat J; Sonnenberg A
J Cell Sci; 2005 Mar; 118(Pt 5):1045-60. PubMed ID: 15731010
[TBL] [Abstract][Full Text] [Related]
17. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH; Sorelli P; Mellerio JE; Keane FM; Eady RA; McGrath JA
Br J Dermatol; 2001 Feb; 144(2):408-14. PubMed ID: 11251584
[TBL] [Abstract][Full Text] [Related]
18. Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.
Masunaga T; Ogawa J; Akiyama M; Nishikawa T; Shimizu H; Ishiko A
J Dermatol; 2017 Feb; 44(2):160-166. PubMed ID: 27607025
[TBL] [Abstract][Full Text] [Related]
19. Keratinocytes from junctional epidermolysis bullosa do adhere and migrate on the basement membrane protein nicein through alpha 3 beta 1 integrin.
Verrando P; Lissitzky JC; Sarret Y; Winberg JO; Gedde-Dahl T; Schmitt D; Bruckner-Tuderman L
Lab Invest; 1994 Oct; 71(4):567-74. PubMed ID: 7967512
[TBL] [Abstract][Full Text] [Related]
20. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
Pulkkinen L; Rouan F; Bruckner-Tuderman L; Wallerstein R; Garzon M; Brown T; Smith L; Carter W; Uitto J
Am J Hum Genet; 1998 Nov; 63(5):1376-87. PubMed ID: 9792864
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
