Literature DB >> 10792571

A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

M Inoue, K Tamai, H Shimizu, K Owaribe, T Nakama, T Hashimoto, J A McGrath.   

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Year:  2000        PMID： 10792571     DOI： 10.1046/j.1523-1747.2000.00960-3.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  5 in total

Review 1.  Do cell junction protein mutations cause an airway phenotype in mice or humans?

Authors:  Eugene H Chang; Alejandro A Pezzulo; Joseph Zabner
Journal:  Am J Respir Cell Mol Biol       Date:  2011-02-04       Impact factor: 6.914

Review 2.  Epidermolysis bullosa with pyloric atresia.

Authors:  Hye Jin Chung; Jouni Uitto
Journal:  Dermatol Clin       Date:  2010-01       Impact factor: 3.478

3.  Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.

Authors:  Fehmida F Khan; Naima Khan; Sakina Rehman; Amir Ejaz; Uzma Ali; Muhammad Erfan; Zubair M Ahmed; Muhammad Naeem
Journal:  Biomolecules       Date:  2021-04-22

4.  Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep.

Authors:  Aroa Suárez-Vega; Beatriz Gutiérrez-Gil; Julio Benavides; Valentín Perez; Gwenola Tosser-Klopp; Christophe Klopp; Stephen J Keennel; Juan José Arranz
Journal:  PLoS One       Date:  2015-05-08       Impact factor: 3.240

5.  Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.

Authors:  Carter Ellis; Chelsea Eason; Alan Snyder; Mark Siegel; Gurpur Shashidhar Pai; Erin Ryan; Ellen G Pfendner; Lara Wine Lee
Journal:  JAAD Case Rep       Date:  2021-03-20
  5 in total

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