Literature DB >> 20613772

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.

Ryan P Hobbs, Sandra Y Han, Paul A van der Zwaag, Marieke C Bolling, Jan D H Jongbloed, Marcel F Jonkman, Spiro Getsios, Amy S Paller, Kathleen J Green.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20613772      PMCID： PMC3061313          DOI： 10.1038/jid.2010.189

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


× No keyword cloud information.
  21 in total

1.  Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus.

Authors:  Lionel Fontao; Bertrand Favre; Sara Riou; Dirk Geerts; Fabienne Jaunin; Jean-Hilaire Saurat; Kathleen J Green; Arnoud Sonnenberg; Luca Borradori
Journal:  Mol Biol Cell       Date:  2003-01-26       Impact factor: 4.138

2.  Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure.

Authors:  Hee-Jung Choi; Shaun Park-Snyder; Lauren T Pascoe; Kathleen J Green; William I Weis
Journal:  Nat Struct Biol       Date:  2002-08

3.  Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

Authors:  N V Whittock; G H Ashton; P J Dopping-Hepenstal; M J Gratian; F M Keane; R A Eady; J A McGrath
Journal:  J Invest Dermatol       Date:  1999-12       Impact factor: 8.551

4.  Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

Authors:  Neil V Whittock; Hong Wan; Susan M Morley; Maria C Garzon; Leonard Kristal; Patrice Hyde; W H Irwin McLean; Leena Pulkkinen; Juoni Uitto; Angela M Christiano; Robin A J Eady; John A McGrath
Journal:  J Invest Dermatol       Date:  2002-02       Impact factor: 8.551

5.  Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Authors:  E E Norgett; S J Hatsell; L Carvajal-Huerta; J C Cabezas; J Common; P E Purkis; N Whittock; I M Leigh; H P Stevens; D P Kelsell
Journal:  Hum Mol Genet       Date:  2000-11-01       Impact factor: 6.150

Review 6.  Fibronectin matrix deposition and fibronectin receptor expression in healing and normal skin.

Authors:  R A Clark
Journal:  J Invest Dermatol       Date:  1990-06       Impact factor: 8.551

Review 7.  Transcriptional regulation of cadherins during development and carcinogenesis.

Authors:  Héctor Peinado; Francisco Portillo; Amparo Cano
Journal:  Int J Dev Biol       Date:  2004       Impact factor: 2.203

8.  A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.

Authors:  Ronny Alcalai; Shulamit Metzger; Shimon Rosenheck; Vardiella Meiner; Tova Chajek-Shaul
Journal:  J Am Coll Cardiol       Date:  2003-07-16       Impact factor: 24.094

9.  Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature.

Authors:  G I Gallicano; C Bauer; E Fuchs
Journal:  Development       Date:  2001-03       Impact factor: 6.868

10.  Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks.

Authors:  T S Stappenbeck; E A Bornslaeger; C M Corcoran; H H Luu; M L Virata; K J Green
Journal:  J Cell Biol       Date:  1993-11       Impact factor: 10.539
View more
  5 in total

Review 1.  Desmosome regulation and signaling in disease.

Authors:  Joshua A Broussard; Spiro Getsios; Kathleen J Green
Journal:  Cell Tissue Res       Date:  2015-02-19       Impact factor: 5.249

2.  Mechanical loading of desmosomes depends on the magnitude and orientation of external stress.

Authors:  Andrew J Price; Anna-Lena Cost; Hanna Ungewiß; Jens Waschke; Alexander R Dunn; Carsten Grashoff
Journal:  Nat Commun       Date:  2018-12-11       Impact factor: 14.919

3.  Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.

Authors:  Anneline S J M Te Riele; Cynthia A James; Hugh Calkins; Adalena Tsatsopoulou
Journal:  Front Pediatr       Date:  2021-12-02       Impact factor: 3.418

Review 4.  Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.

Authors:  Pablo Jesús Marín-García; Lola Llobat
Journal:  Vet Sci       Date:  2022-08-15

5.  Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.

Authors:  Lynn M Boyden; Chen Y Kam; Angela Hernández-Martín; Jing Zhou; Brittany G Craiglow; Robert Sidbury; Erin F Mathes; Sheilagh M Maguiness; Debra A Crumrine; Mary L Williams; Ronghua Hu; Richard P Lifton; Peter M Elias; Kathleen J Green; Keith A Choate
Journal:  Hum Mol Genet       Date:  2015-11-24       Impact factor: 6.150
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.