A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex
Richard Groves,Lu Liu,Patricia J.C. Dopping-Hepenstal,Hugh S. Markus,Patricia A. Lovell,Linda Ozoemena,Joey Lai-Cheong,Joey Lai-Cheong,Jeffrey Gawler,Katsushi Owaribe,Takashi Hashimoto,Jemima E. Mellerio,Jemima E. Mellerio,John B. Mee,John A. McGrath +14 more
TLDR
The clinicopathological findings expand the molecular basis of EB by identifying BPAG1-e pathology in a new form of autosomal recessive EB simplex, which has lifelong generalized trauma-induced spontaneous blisters and erosions, particularly around the ankles.About:
This article is published in Journal of Investigative Dermatology.The article was published on 2010-06-01 and is currently open access. It has received 129 citations till now. The article focuses on the topics: Epidermolysis bullosa & Dystonin.read more
Citations
More filters
Journal ArticleDOI
Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
Jo-David Fine,Leena Bruckner-Tuderman,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Cristina Has,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,M. Peter Marinkovich,M. Peter Marinkovich,Anna E. Martinez,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Celia Moss,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,David T. Woodley,Giovanna Zambruno +22 more
TL;DR: In this article, the authors presented a new approach to classification of epidermolysis bullosa (EB) that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and specific mutation(s), and their location(s).
Journal ArticleDOI
Molecular architecture and function of the hemidesmosome
TL;DR: The molecular characteristics of the proteins that make up the hemidesmosome core structure are reviewed and the current knowledge about how their assembly and turnover are regulated by transcriptional and post-translational mechanisms is summarized.
Journal ArticleDOI
Spectraplakins: Master orchestrators of cytoskeletal dynamics
TL;DR: Spectraplakins are evolutionarily conserved giant cytoskeletal cross-linkers, which belong to the spectrin superfamily, which are unique in their ability to associate with all three elements of the cytoskeleton: F-actin, microtubules, and intermediate filaments.
Journal ArticleDOI
Comorbidity profiles among patients with bullous pemphigoid: a nationwide population‐based study
Yann Jang Chen,Chun Ying Wu,Ming Wei Lin,Tzeng Ji Chen,K.K. Liao,Yu Chun Chen,Chian Yaw Hwang,S.-Y. Chu,Chih Chiang Chen,D.D. Lee,Y.T. Chang,W.J. Wang,Han Nan Liu +12 more
TL;DR: This large-scale population‐based study of different comorbid diseases in patients with BP found no clear link between BP and neurological and psychiatric diseases.
Journal ArticleDOI
Inherited epidermolysis bullosa: New diagnostic criteria and classification
TL;DR: This contribution will summarize the most recent classification of EB and discuss the molecular basis, target genes, and proteins involved, including new subtypes, such as autosomal dominant junctional EB and autosomal recessive EB due to mutations in the dystonin (DST) gene.
References
More filters
Journal ArticleDOI
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
Anne Joutel,Christophe Corpechot,Anne Ducros,Katayoun Vahedi,Hugues Chabriat,Philippe Mouton,Sonia Alamowitch,Valérie Domenga,Michaelle Cécillion,Emmanuelle Maréchal,Jacqueline Maciazek,Céline Vayssière,Corinne Cruaud,E. A. Cabanis,Marie Madeleine Ruchoux,Jean Weissenbach,Jean Francois Bach,Marie-Germaine Bousser,Elisabeth Tournier-Lasserve +18 more
TL;DR: The characterization of the human Notch3 gene, which was previously mapped to the CADASIL critical region, is reported, indicating that Notch 3 could be the defective protein in CADASil patients.
Journal ArticleDOI
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Jo-David Fine,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Leena Bruckner-Tuderman,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,Anders Vahlquist,David T. Woodley,Giovanna Zambruno +18 more
TL;DR: A revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility is presented.
Journal ArticleDOI
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
Anne Joutel,Katayoun Vahedi,Christophe Corpechot,Alain Troesch,Hugues Chabriat,Céline Vayssière,Corinne Cruaud,Jacqueline Maciazek,Jean Weissenbach,Marie-Germaine Bousser,Jean-François Bach,Elisabeth Tournier-Lasserve +11 more
TL;DR: The findings suggest that aberrant dimerisation of Notch3, due to abnormal disulphide bridging with another NotCh3 molecule or with another protein, may be involved in the pathogenesis of this disorder.
Journal ArticleDOI
Structure and Function of Hemidesmosomes: More Than Simple Adhesion Complexes
Luca Borradori,Arnoud Sonnenberg +1 more
TL;DR: The aims of this review are to highlight the recent progresses of knowledge on the organization and assembly of hemidesmosomes, their involvement in signaling pathways as well as their participation in clinical pathologic conditions.
Journal ArticleDOI
Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration
Lifei Guo,Linda Degenstein,James J. Dowling,Qian-Chun Yu,Robert L. Wollmann,Benjamin Perman,Elaine Fuchs,Elaine Fuchs +7 more
TL;DR: It is shown that in at least one other strain of dt/dt mice, BPAG1 gene is defective, and this compromises mechanical integrity and influences migration.
Related Papers (5)
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Jo-David Fine,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Leena Bruckner-Tuderman,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,Anders Vahlquist,David T. Woodley,Giovanna Zambruno +18 more
Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
Jo-David Fine,Leena Bruckner-Tuderman,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Cristina Has,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,M. Peter Marinkovich,M. Peter Marinkovich,Anna E. Martinez,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Celia Moss,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,David T. Woodley,Giovanna Zambruno +22 more