Results 111 to 120 of about 10,499 (199)

Next-Generation Sequencing Identified Novel Desmoplakin Frame-shift Variant in Patients with Arrhythmogenic Cardiomyopathy [PDF]

, 2020
Xiaoping Lin, Yuankun Ma, Zhejun Cai, Qiyuan Wang, Lihua Wang, Zhaoxia Huo, Dan Hu, Jianan Wang, Meixiang Xiang   +8 more
openalex   +1 more source

Human melanomas and ovarian cancers overexpressing mechanical barrier molecule genes lack immune signatures and have increased patient mortality risk. [PDF]

, 2016
We have identified eight genes whose expression in human melanoma metastases and ovarian cancers is associated with a lack of Th1 immune signatures. They encode molecules with mechanical barrier function in the skin and other normal tissues and include ...
Bedognetti, D, Coukos, G, Deacon, Dh, Gajewski, Tf, Jr,, Marincola, Fm, Mauldin, Is, Obeid, Jm, Pinczewski, J, Salerno, Ep, Shea, Sm, Slingluff, Cl, Wang, E   +12 more
core   +2 more sources

Transmembrane protein PERP is a component of tessellate junctions and of other junctional and non-junctional plasma membrane regions in diverse epithelial and epithelium-derived cells [PDF]

, 2013
Protein PERP (p53 apoptosis effector related to PMP-22) is a small (21.4 kDa) transmembrane polypeptide with an amino acid sequence indicative of a tetraspanin character.
AH Christensen, B Holthöfer, B Nguyen, BK Straub, Caecilia Kuhn, Christine Grund, CJ Skerrow, CJ Skerrow, CJ Skerrow, CM Borrmann, D Garrod, D Skerrow, E Delva, EP Parrish, G Gorbsky, GJ Giudice, H Mueller, Hans Heid, HH Wacker, HW Kaiser, J Kartenbeck, J Kartenbeck, J Li, K Akat, K Schwechheimer, L Langbein, L Langbein, LA Staehelin, LD Attardi, LM Godsel, M Barth, M Barth, M Haftek, MG Farquhar, MP Demlehner, MR Marques, MR Marques, P Cowin, P Cowin, P Cowin, P Cowin, P Drochmans, R Duden, R Moll, RA Ihrie, RA Ihrie, RA Ihrie, RA Ihrie, RA Quinlan, Ralf Zimbelmann, RL Dusek, RM Hicks, S Goossens, S Pieperhoff, S Rickelt, S Rickelt, S Rickelt, S Rickelt, S Rickelt, S Rickelt, Stefanie Winter-Simanowski, Steffen Rickelt, VG Beaudry, VG Beaudry, VG Beaudry, Werner W. Franke, WW Franke, WW Franke, WW Franke, WW Franke, WW Franke, WW Franke, Y Horiguchi, Yvette Dörflinger   +73 more
core   +1 more source

De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease

Swiss Medical Weekly, 2012
STUDY/PRINCIPLES: Arrythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal-dominantly inherited disease caused by mutations in genes encoding desmosomal proteins and is characterised by fibrofatty replacement occurring ...
Dagmar I Keller, Dimitri Stepowski, Christian Balmer, Francoise Simon, Joelle Guenthard, Fabrice Bauer, Peter Itin, Nadine David, Valérie Drouin-Garraud, Véronique Fressart   +9 more
doaj   +1 more source

A desmoplakin variant associated with isolated arrhythmogenic left ventricular cardiomyopathy with rapid monomorphic ventricular tachycardia at first presentation

, 2023
Fu Guan, Thomas Wolber, Ardan M. Saguner, Argelia Medeiros, Oliver Müggler, F. Berger, Matthias Gass, Nadine Molitor, Frank Ruschitzka, Corinna Brunckhorst, Fırat Duru   +10 more
openalex   +1 more source

The Diminution of R‐Loops Generated by LncRNA DSP‐AS1 Inhibits DSP Gene Transcription to Impede the Re‐Epithelialization During Diabetic Wound Healing

Advanced Science
Re‐epithelialization constitutes a critical stage in the intricate process of wound healing, yet its mechanisms in the context of diabetic wounds remain elusive.
Chen Yang, Hong Lian, Hengli Luo, Chenlin Song, Jianghong Lin, Zhuoxian Liang, Yulin Yang, Xiaosi Hong, Shaohua Li, Yanbo Chen, Liangyan Wu, Li Yan, Sifan Chen, Meng Ren   +13 more
doaj   +1 more source

Hinged plakin domains provide specialized degrees of articulation in envoplakin, periplakin and desmoplakin.

PLoS ONE, 2013
Envoplakin, periplakin and desmoplakin are cytoskeletal proteins that provide structural integrity within the skin and heart by resisting shear forces. Here we reveal the nature of unique hinges within their plakin domains that provides divergent degrees
Caezar Al-Jassar, Pau Bernadό, Martyn Chidgey, Michael Overduin   +3 more
doaj   +1 more source

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

Nature Communications, 2018
Desmosomes are intercellular adhesion complexes that connect the intermediate filament cytoskeletons of neighboring cells but direct evidence for their load-bearing nature is lacking.
Andrew J. Price, Anna-Lena Cost, Hanna Ungewiß, Jens Waschke, Alexander R. Dunn, Carsten Grashoff   +5 more
doaj   +1 more source

Expression of desmosomal proteins and their implications during enamel organ morphogenesis

Indian Journal of Dental Sciences, 2018
Background/Objective: The present article is between the fewest that describe the expression of desmosomal proteins in human tooth organ and to implicate desmosome and its components in tooth morphogenesis.
Hadi BILAL
doaj   +1 more source

A Desmoplakin Point Mutation with Enhanced Keratin Association Ameliorates Pemphigus Vulgaris Autoantibody-Mediated Loss of Cell Cohesion [PDF]

, 2014
Carina Dehner, Vera Rötzer, Jens Waschke, Volker Spindler   +3 more
openalex   +1 more source