Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Nature Genetics
F VidalG Meneguzzi

Abstract

Pyloric atresia associated with junctional epidermolysis bullosa (PA-JEB), is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations. We demonstrate that in one PA-JEB patient the disease resulted from two distinct mutations in the beta 4 integrin gene alleles. The paternal mutation consists of a one base pair deletion causing a shift in the open reading frame, and a downstream premature termination codon. The maternal mutation occurs in a donor splice site, and results in in-frame exon skipping involving the cytoplasmic domain of the polypeptide. Our results implicate mutations in the beta 4 integrin gene in some forms of PA-JEB.

References

Oct 1, 1992·The Journal of Investigative Dermatology·M F JonkmanA Sonnenberg
Aug 1, 1992·The Journal of Cell Biology·F G GiancottiE Ruoslahti
Jun 1, 1992·The Journal of Clinical Investigation·M D HertleF M Watt
Mar 1, 1990·The Journal of Cell Biology·H LarjavaK M Yamada
May 1, 1990·The Journal of Investigative Dermatology·T TanakaJ R Stanley
Jan 1, 1991·Annual Review of Cell Biology·M R Green
Jun 1, 1991·Cell Regulation·J C JonesV Quaranta
Feb 1, 1991·Experimental Cell Research·K OwaribeW W Franke
Nov 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·M A SteppI K Gipson
Sep 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·M De LucaV Quaranta
Jan 1, 1989·The Journal of Investigative Dermatology·S MuellerJ R Stanley
Dec 1, 1988·Nature·A SonnenbergF Hogervorst
Apr 1, 1986·Journal of the American Academy of Dermatology·I J Frieden
Jan 1, 1987·Annual Review of Medicine·D C Anderson, T A Springer
Jul 1, 1993·Nature Genetics·I McIntoshH C Dietz
Sep 1, 1993·The Journal of Clinical Investigation·H LarjavaJ Heino
Feb 1, 1993·Current Opinion in Cell Biology·D R Garrod

❮ Previous
Next ❯

Citations

Apr 1, 1997·Prenatal Diagnosis·A M ChristianoJ Uitto
Aug 12, 1998·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·J C JonesL E Goldfinger
Mar 28, 2001·The Journal of Gene Medicine·F SpiritoM Mezzina
Sep 1, 1997·Pediatric Surgery International·M Raghunath, M Meuli
Jun 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·S IacovacciM D'Alessio
Sep 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·J E KusterP J Swiatek
Feb 15, 2005·Clinics in Dermatology·Jouni Uitto, Gabriele Richard
Nov 13, 2002·Mutation Research·Thierry Magnaldo, Alain Sarasin
Aug 16, 2000·Pediatric Clinics of North America·R Sidbury, A S Paller
May 3, 2003·Journal of Dermatological Science·James R McMillanHiroshi Shimizu
Dec 2, 1998·Journal of Dermatological Science·K Yamanishi
Jan 16, 1999·Journal of Dermatological Science·H Shimizu, K Suzumori
Jun 24, 1999·Journal of Dermatological Science·M F Jonkman
Aug 11, 2000·Matrix Biology : Journal of the International Society for Matrix Biology·N Hogg, P A Bates
Dec 1, 1996·Matrix Biology : Journal of the International Society for Matrix Biology·M C RyanR E Burgeson
Dec 24, 1997·Matrix Biology : Journal of the International Society for Matrix Biology·M Fornaro, L R Languino
Jun 15, 1999·Matrix Biology : Journal of the International Society for Matrix Biology·M G NieversA Sonnenberg
Jun 15, 1999·Matrix Biology : Journal of the International Society for Matrix Biology·L Pulkkinen, J Uitto
Sep 7, 2001·Current Opinion in Cell Biology·A M MercurioL M Shaw
Oct 1, 1996·Current Opinion in Cell Biology·R FässlerE Hirsch
Oct 1, 1996·Current Opinion in Cell Biology·L Borradori, A Sonnenberg
Oct 23, 1997·Current Opinion in Cell Biology·R E Burgeson, A M Christiano
Nov 18, 1998·Current Opinion in Cell Biology·J P Gorski, B R Olsen
Dec 1, 1996·Neuromuscular Disorders : NMD·U M Wewer, E Engvall
Jul 1, 1996·Nature Genetics·R van der NeutA Sonnenberg
Jul 1, 1996·Nature Genetics·E Georges-LabouesseM Le Meur
Sep 4, 2013·Nature Reviews. Nephrology·Florian GrahammerTobias B Huber
Oct 3, 1998·Journal of Anatomy·M Aumailley, N Smyth
Jun 3, 1999·Proceedings of the Association of American Physicians·J R Bickenbach, D R Roop
May 22, 2001·The Journal of Biological Chemistry·T L DavisA E Cress
Apr 12, 2012·The Journal of Biological Chemistry·Kristina R KligysJonathan C R Jones
Sep 16, 2006·The Journal of Biological Chemistry·Bernd U SehgalJonathan C R Jones
Jul 1, 1996·The Journal of Cell Biology·J DowlingE Fuchs
Nov 21, 2000·Human Gene Therapy·P A Khavari
Jun 28, 2003·Human Gene Therapy·Susana Ortiz-UrdaPaul A Khavari

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adhesion Molecules in Health and Disease

Cell adhesion molecules are a subset of cell adhesion proteins located on the cell surface involved in binding with other cells or with the extracellular matrix in the process called cell adhesion. In essence, cell adhesion molecules help cells stick to each other and to their surroundings. Cell adhesion is a crucial component in maintaining tissue structure and function. Discover the latest research on adhesion molecule and their role in health and disease here.