Results 71 to 80 of about 11,754 (266)

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review

BMC Cardiovascular Disorders, 2022
Background Arrhythmogenic cardiomyopathy (AC) is a rare, heritable myocardial disorder that is a leading cause of ventricular arrhythmia and sudden cardiac death (SCD) in young people. Desmoplakin ( DSP ) mutations account for 3–20% of AC cases. However,
Cátia Santos-Ferreira, R. Baptista, T. Teixeira, Lino Gonçalves   +3 more
semanticscholar   +1 more source

Desmoplakin: an unexpected regulator of microtubule organization in the epidermis [PDF]

The Journal of Cell Biology, 2007
Despite their importance in cell shape and polarity generation, the organization of microtubules in differentiated cells and tissues remains relatively unexplored in mammals. We generated transgenic mice in which the epidermis expresses a fluorescently labeled microtubule-binding protein and show that in epidermis and in cultured keratinocytes ...
Elaine Fuchs, Terry Lechler
openaire   +2 more sources

PP2A-B55alpha controls keratinocyte adhesion through dephosphorylation of the Desmoplakin C-terminus

bioRxiv, 2022
Critical for the maintenance of epidermal integrity and function are attachments between intermediate filaments (IF) and intercellular junctions called desmosomes.
Abbey L. Perl, J. Koetsier, K. Green
semanticscholar   +1 more source

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)

Molecular Genetics and Metabolism Reports, 2016
Background: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found.
Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone   +4 more
doaj   +1 more source

A global perspective of arrhythmogenic right ventricular cardiomyopathy. [PDF]

, 2012
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive inherited heart disease characterized by ventricular arrhythmias and sudden cardiac death especially in the young. ARVC has been traditionally associated with the Mediterranean basin,
Alhashemi, M, Elmaghawry, M, Yacoub, MH, Zorzi, A   +3 more
core   +1 more source

Desmoplakin (Dsp) conditional knockout in NR5A1+ somatic cells affects germ cell survival in developing mouse gonads.

Reproduction, 2022
Cell-cell interactions are crucial for morphogenesis and tissue formation. Desmoplakin (encoded by the Dsp gene) is a component of desmosomes and anchors the transmembrane adhesion proteins to the cytoskeleton. Its role in gonad development remains vague.
R. Piprek, Izabela Rams, R. Zdanowski, M. Kloc, J. Kubiak   +4 more
semanticscholar   +1 more source

Case Report: A novel desmoplakin mutation in a taiwanese woman with familial dilated cardiomyopathy that necessitated heart transplantation

Frontiers in Genetics, 2022
Around one-third of patients diagnosed with idiopathic dilated cardiomyopathy (DCM) turn out to be familial cases, in only a few of which the identification of a pathogenic/likely pathogenic variant could be achieved. Cardiomyopathy caused by desmoplakin
Yi-Han Chang, Yi-Han Chang, Yi-Han Chang, Pei Lin, Jia-Ling Lin, Jia-Ling Lin, Hsin-Yu Huang, Chao-Kai Hsu, Chao-Kai Hsu, Chao-Kai Hsu, Chih-Hsin Hsu, Chih-Hsin Hsu   +11 more
doaj   +1 more source

Syntenin-1 is a promoter and prognostic marker of head and neck squamous cell carcinoma invasion and metastasis. [PDF]

, 2016
Metastasis represents a key factor associated with poor prognosis of head and neck squamous cell carcinoma (HNSC). However, the underlying molecular mechanisms remain largely unknown. In this study, our liquid chromatography with tandem mass spectrometry
Cheng, Siliangyu, Cui, Li, Hu, Shen, Liu, Xiaojun, Messadi, Diana, Yang, Yan   +5 more
core   +1 more source

Gene expression and splicing alterations analyzed by high throughput RNA sequencing of chronic lymphocytic leukemia specimens. [PDF]

, 2015
BackgroundTo determine differentially expressed and spliced RNA transcripts in chronic lymphocytic leukemia specimens a high throughput RNA-sequencing (HTS RNA-seq) analysis was performed.MethodsTen CLL specimens and five normal peripheral blood CD19+ B ...
A Ameur, A Choudhury, A Hidalgo, A Rosenwald, AS Kamiguti, C Haslinger, C Soo, C Trapnell, C Trapnell, CJ David, DC Gilby, E Moon, E Moravcikova, F Colotta, F Talab, FC Kelleher, Gwen Jordaan, H Dohner, H Jiang, J Eswaran, J Vilpo, JC Marioni, JJ Dongen van, JP Venables, K Inada, K Zen, L Chen, L Wang, L Yang, LQ Zhang, M Crespo, M Rehli, M Shinohara, M Sultan, Matteo Pelegrini, ML Hermiston, MW Pfaffl, N Chiorazzi, NA Twine, O Bermudez, P Guglielmi, P Kapranov, PG Ferreira, Phillipp Nham, Q Huang, RA Higgins, RI Fernando, RK Gandhirajan, RN Damle, Ryan T. Phan, S Anders, S Courtois, S Decker, S Falt, S Ibrahim, S Liu, S Ma, S Ren, S Shen, Sanjai Sharma, SM Russell, SP Shah, SR Gunn, T Ormsby, TJ Hamblin, U Klein, V Quesada, Wei Liao, XS Puente, Y Pawitan, Y Pekarsky, Y Yu, Z Wang   +72 more
core   +1 more source

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

medRxiv, 2021
Background: Truncating variants in desmoplakin (DSPtv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely understood.
E. Hoorntje, C. Burns, L. Marsili, B. Corden, V. Parikh, G. Meerman, B. Gray, A. Adiyaman, R. Bagnall, D. Barge-Schaapveld, M. P. van den Berg, M. Bootsma, L. Bosman, G. Correnti, Johan Duflou, R. N. Eppinga, D. Fatkin, M. Fietz, E. Haan, J. Jongbloed, A. Hauer, L. Lam, F. V. van Lint, A. Lota, C. Marcelis, H. McCarthy, A. V. van Mil, R. Oldenburg, N. Pachter, R. N. Planken, C. Reuter, C. Semsarian, J. van der Smagt, T. Thompson, J. Vohra, P. Volders, J. I. van Waning, N. Whiffin, A. van den Wijngaard, A. Amin, A. Wilde   +40 more
semanticscholar   +1 more source