ArticleThe American journal of pathology1998
Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).
Article in The American journal of pathology, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Compound Heterozygous Null Variants inInternational journal of genomics · 2025Review
- Intestinal Failure in Junctional Epidermolysis Bullosa: Mild Skin Disease, Severe Diarrhea.Digestive diseases and sciences · 2022Article
- Review
- Genome-wide association scan for QTL and their positional candidate genes associated with internal organ traits in chickens.BMC genomics · 2019Article
- Granzyme B is elevated in autoimmune blistering diseases and cleaves key anchoring proteins of the dermal-epidermal junction.Scientific reports · 2018Article
- α6β4 integrin, a master regulator of expression of integrins in human keratinocytes.The Journal of biological chemistry · 2012Article
- Molecular and genetic basis of inherited nephrotic syndrome.International journal of nephrology · 2011Article
- Epidermolysis bullosa with pyloric atresia.Dermatologic clinics · 2010Review
- Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Journal of medical genetics · 2006Article
- Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.The Journal of cell biology · 1999Article
- Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.American journal of human genetics · 1998Article
- Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.The American journal of pathology · 1998Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Epidermolysis bullosa with pyloric atresia (EB-PA; OMIM 226730) is a clinically and genetically heterogeneous autosomal recessive blistering disorder, including lethal and nonlethal variants. Recently, expression of alpha6beta4 integrin, a transmembrane protein of the epithelial basement membranes, has been shown to be altered in these patients. In this work, we have explored the molecular pathology of the lethal form of EB-PA, and we describe novel ITGB4 mutations in five alleles of three patients. The mutation detection strategy included polymerase chain reaction amplification of each exon of ITGB4, followed by heteroduplex analysis and direct nucleotide sequencing. The novel mutations included a homozygous 2-bp deletion in exon 34 (4501delTC), compound heterozygosity for a 2-bp deletion within the paternal allele (120delTG) within exon 3 and a cysteine substitution in the maternal allele (C245G) within exon 7, and the paternal nonsense mutation within exon 4 (Q73X). Thus, three of four distinct mutations predicted truncated polypeptide chains, whereas the missense mutation in the extracellular domain of beta4 integrin may affect ligand binding or dimerization of alpha6 and beta4 integrin subunits. These mutations emphasize the critical importance of the alpha6beta4 integrin in providing stability to the association of epidermis to the underlying dermis at the cutaneous basement membrane zone.
Indexed as
Identifiers
9422533PMC1858138What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.