Results 201 to 210 of about 11,754 (266)

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing

Stem Cell Research
Arrhythmogenic cardiomyopathy is a severe genetic heart muscle disease characterized by fibro-fatty replacement of the myocardium. Pathogenic variants causal for this disease are mainly located in desmosomal genes, including desmoplakin (DSP).
Laurens Léger, Jeffrey Aalders, Nina Heymans, Kiara Van Acker-Verberckt, Léa De Bleeckere, Paul Coucke, Björn Menten, Barbara Bauce, Libero Vitiello, Alessandra Rampazzo, Martina Calore, Jolanda van Hengel   +11 more
doaj  

Epithelial character and morphological diversity of cell cultures from human amnotic fluids examined by immunofluorescence microscopy and gel electrophoresis of cytoskeletal proteins [PDF]

, 1983
Cremer, Marion, Cremer, Thomas, Franke, W. W., Grund, Christoph, Moll, R., Ochs, B.   +5 more
core  

The Desmoplakin Phenotype Spectrum: Is the Inflammation the "Fil Rouge" Linking Myocarditis, Arrhythmogenic Cardiomyopathy, and Uncommon Autoinflammatory Systemic Disease? [PDF]

Genes (Basel)
D'Elia S, Caputo A, Natale F, Pezzullo E, Limongelli G, Golino P, Cimmino G, Loffredo FS.   +7 more
europepmc   +1 more source

Endothelial and virgultar cell formations in the mammalian lymph node sinus: endothelial differentiation morphotypes characterized by a special kind of junction () [PDF]

core   +1 more source

Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening [PDF]

, 2017
Almutawa, Armstrong, Dua-Awereh, Harmon, Has, Hershkovitz, Hunt, Irvine, Itin, Keren, Klijuic, McAleer, Milingou, Nomura, Samuelov, Wan, Whittock   +16 more
core   +2 more sources

Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome). [PDF]

Orphanet J Rare Dis
Binfadel M, Aleem MU, Alhabdan M, Alruwaili N, AlHassnan Z, Vriz O, Tulbah S, Albert-Brotons DC.   +7 more
europepmc   +1 more source

Calcium-Dependent Regulation of Desmosomal Proteins in Human Meibomian Gland Epithelial Cells. [PDF]

Invest Ophthalmol Vis Sci
Garreis F, Adelung S, Schicht M, Hampel U, Paulsen F.   +4 more
europepmc   +1 more source

Unraveling "Hot Phases" of Arrhythmogenic Cardiomyopathy. [PDF]

JACC Basic Transl Sci
Gao S, Chen SN, Mestroni L.
europepmc   +1 more source

Is it Time to Incorporate Genomic Data in the Routine Evaluation of Cardiac Sarcoidosis? [PDF]

JACC Adv
Ezzeddine FM, Tseng A, Bois M, Cooper LT.   +3 more
europepmc   +1 more source

Risk stratification in arrhythmogenic cardiomyopathy: scoring or personalized medicine? [PDF]

Eur Heart J Suppl
Martini M, Rigato I, Masini M, De Lazzari M, Mattesi G, Pilichou K, Pittorru R, Migliore F, Bauce B.   +8 more
europepmc   +1 more source