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Items: 1 to 20 of 286

1.

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. doi: 10.1097/MPG.0b013e31817af98d.

PMID:
18955862
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.

PMID:
15491419
3.

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. doi: 10.2340/00015555-0484. Review.

4.

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.

PMID:
15009117
5.

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA.

Br J Dermatol. 1998 Nov;139(5):862-71.

PMID:
9892956
6.

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.

7.
9.

Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia.

Iacovacci S, Cicuzza S, Odorisio T, Silvestri E, Kayserili H, Zambruno G, Puddu P, D'Alessio M.

Exp Dermatol. 2003 Oct;12(5):716-20. Erratum in: Exp Dermatol. 2003 Dec;12(6):925.

PMID:
14705814
10.

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.

PMID:
11251584
11.
12.

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 15;99(12):2826-31.

13.

Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.

Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J.

Klin Padiatr. 2012 Jan;224(1):8-11. doi: 10.1055/s-0031-1285877. Epub 2011 Sep 26.

PMID:
21969027
14.

A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing.

Natsuga K, Nishie W, Shinkuma S, Nakamura H, Arita K, Yoneda K, Kusaka T, Yanagihara T, Kosaki R, Sago H, Akiyama M, Shimizu H.

Exp Dermatol. 2011 Jan;20(1):74-6. doi: 10.1111/j.1600-0625.2010.01177.x. Epub 2010 Oct 18.

PMID:
20955205
15.

Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties.

Niessen CM, van der Raaij-Helmer MH, Hulsman EH, van der Neut R, Jonkman MF, Sonnenberg A.

J Cell Sci. 1996 Jul;109 ( Pt 7):1695-706. Erratum in: J Cell Sci 1996 Aug;109(Pt 8):precedi.

16.

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

Chavanas S, Gache Y, Vailly J, Kanitakis J, Pulkkinen L, Uitto J, Ortonne J, Meneguzzi G.

Hum Mol Genet. 1999 Oct;8(11):2097-105.

PMID:
10484780
17.

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.

Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, Peters J, Ott H, Hyla-Klekot L, Gacka E, Sieron AL, Valari M, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2013 Jul;169(1):115-24. doi: 10.1111/bjd.12317.

PMID:
23496044
19.

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA.

Turk J Pediatr. 2015 Jul-Aug;57(4):385-387.

PMID:
27186702
20.

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.

PMID:
7545057

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