Literature DB >> 29878302

A recessive mutation in the DSP gene linked to cardiomyopathy, skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin.

B Favre1, N Begré1, L Borradori1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 29878302     DOI： 10.1111/bjd.16832

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


× No keyword cloud information.
  6 in total

1.  Desmoplakin is required for epidermal integrity and morphogenesis in the Xenopus laevis embryo.

Authors:  Navaneetha Krishnan Bharathan; Amanda J G Dickinson
Journal:  Dev Biol       Date:  2019-03-29       Impact factor: 3.582

2.  Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function.

Authors:  Fiyaz Mohammed; Elena Odintsova; Martyn Chidgey
Journal:  Int J Mol Sci       Date:  2022-01-04       Impact factor: 5.923

3.  Single-cell transcriptomics reveals age-resistant maintenance of cell identities, stem cell compartments and differentiation trajectories in long-lived naked mole-rats skin.

Authors:  Aleksandra Savina; Thierry Jaffredo; Frederic Saldmann; Chris G Faulkes; Philippe Moguelet; Christine Leroy; Delphine Del Marmol; Patrice Codogno; Lucy Foucher; Antoine Zalc; Mélanie Viltard; Gérard Friedlander; Selim Aractingi; Romain H Fontaine
Journal:  Aging (Albany NY)       Date:  2022-05-04       Impact factor: 5.955

4.  Wilms' tumour 1-associating protein inhibits endothelial cell angiogenesis by m6A-dependent epigenetic silencing of desmoplakin in brain arteriovenous malformation.

Authors:  Lin-Jian Wang; Yimeng Xue; Hao Li; Ran Huo; Zihan Yan; Jie Wang; Hongyuan Xu; Jia Wang; Yong Cao; Ji-Zong Zhao
Journal:  J Cell Mol Med       Date:  2020-04-13       Impact factor: 5.310

5.  Desmoplakin interacts with the coil 1 of different types of intermediate filament proteins and displays high affinity for assembled intermediate filaments.

Authors:  Bertrand Favre; Nadja Begré; Jamal-Eddine Bouameur; Prakash Lingasamy; Gloria M Conover; Lionel Fontao; Luca Borradori
Journal:  PLoS One       Date:  2018-10-04       Impact factor: 3.240

6.  Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.

Authors:  Daan Fritz; Bart Ferwerda; Matthijs C Brouwer; Diederik van de Beek
Journal:  Clin Rheumatol       Date:  2021-04-27       Impact factor: 2.980
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.