Am J Kidney Dis. 2000 Jul;36(1):190-6.

Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.

Kambham N, Tanji N, Seigle RL, Markowitz GS, Pulkkinen L, Uitto J, D'Agati VD.

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Departments of Pathology and Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA.

Abstract

We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the beta4 integrin gene, ITGB4, was identified. By immunofluorescence, beta4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes. This is the first demonstration of beta4 integrin expression in human glomeruli. We postulate a role for altered beta4 integrin function in the mediation of the glomerular permeability defect.

PMID:: 10873890; [PubMed - indexed for MEDLINE]

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Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the alpha6beta4 integrin. [J Invest Dermatol. 1997]
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.
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. [Am J Hum Genet. 1998]
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.
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. [Lab Invest. 1997]
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Review 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. [Acta Derm Venereol. 2008]
Review 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, et al. Acta Derm Venereol. 2008; 88(5):438-48.
Review CD2-associated protein and glomerular disease. [Lancet. 2003]
Review CD2-associated protein and glomerular disease.
Wolf G, Stahl RA. Lancet. 2003 Nov 22; 362(9397):1746-8.

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Congenital focal segmental glomerulosclerosis associated with beta4 integrin mut...
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
Am J Kidney Dis. 2000 Jul ;36(1):190-6.

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