Results 91 to 100 of about 11,754 (266)

Striate Palmoplantar Keratoderma Resulting from Desmoplakin Haploinsufficiency [PDF]

Journal of Investigative Dermatology, 1999
Recently, the first example of a human mutation in the gene encoding the desmosomal plaque protein, desmoplakin, has been described in a patient with autosomal dominant striate palmoplantar kerato-derma. We now report a further case of a desmoplakin mutation in a proband with striate palmoplantar keratoderma that also results in a null allele and ...
Whittock, N V, Ashton, G H S, Dopping-Hepenstal, P J C, Gratian, M J, Keane, F M, Eady, R A J, McGrath, J A   +6 more
openaire   +4 more sources

Naxos Disease [PDF]

, 2005
Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C).1 It is a stereotype association of
Protonotarios, Nikos, Tsatsopoulou, Adalena   +1 more
core   +2 more sources

Paraneoplastic pemphigus: insight into the autoimmune pathogenesis, clinical features and therapy [PDF]

, 2017
Paraneoplastic pemphigus is a rare autoimmune skin disease that is always associated with a neoplasm. Usually, oral, skin, and mucosal lesions are the earliest manifestations shown by paraneoplastic pemphigus patients.
Andrea Ciofalo, Biagio Didona, Bialy-Golan, Dario Didona, Elisa Moliterni, Giannicola Iannella, Giovanni Paolino, Giuseppe Magliulo, Guido Granata, Hainsworth, Martínez De Pablo, Matz, Michele Donati, Mutasim, Nguyen, Patricia Ranuzzi, Santo Mercuri, Schepens, Stefano Calvieri, Su, Vincenzo Falasca, Zimmermann   +21 more
core   +2 more sources

Engineering Extracellular Microenvironments: The Impact of Fibrous Materials on Cell Behavior

Advanced Healthcare Materials, EarlyView.
Fibrous structures are key elements of the native extracellular matrix and crucial for directing cell behavior. This review discusses how fiber properties such as composition, diameter, and alignment affect cell responses in 2D and 3D systems. Strategies for integrating fibrous cues into engineered tissues are highlighted, and future directions for ...
Zan Lamberger, Gregor Lang
wiley   +1 more source

CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation. [PDF]

PLoS ONE, 2015
Deleterious mutations of the Centrosome/Spindle Pole associated Protein 1 gene, CSPP1, are causative for Joubert-syndrome and Joubert-related developmental disorders.
Johan Sternemalm, Stefan Geimer, Kari-Anne M Frikstad, Kay O Schink, Trond Stokke, Sebastian Patzke   +5 more
doaj   +1 more source

Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy [PDF]

, 2012
Background: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood.
Ahmad, Ferhaan, McDonough, Barbara Anne, Rajkumar, Revathi, Seidman, Christine Edry, Sembrat, John C   +4 more
core   +5 more sources

Creating a ‘Molecular Band-Aid’; Blocking an Exposed Protease Target Site in Desmoplakin

Journal of Personalized Medicine, 2021
Desmoplakin (DSP) is a large (~260 kDa) protein found in the desmosome, a subcellular complex that links the cytoskeleton of one cell to its neighbor. A mutation ‘hot-spot’ within the NH2-terminal third of the DSP protein (specifically, residues 299–515)
Catherine A. Hoover, Kendahl Ott, H. Manring, T. Dew, Maegen A. Borzok, N. Wright   +5 more
semanticscholar   +1 more source

The cell-cell junctions of mammalian testes: I. The adhering junctions of the seminiferous epithelium represent special differentiation structures [PDF]

, 2014
The seminiferous tubules and the excurrent ducts of the mammalian testis are physiologically separated from the mesenchymal tissues and the blood and lymph system by a special structural barrier to paracellular translocations of molecules and particles ...
Domke, Lisa M., Dörflinger, Yvette, Franke, Werner W., Heid, Hans, Kuhn, Caecilia, Rickelt, Steffen, Rosin-Arbesfeld, Rina, Winter-Simanowski, Stefanie, Zimbelmann, Ralf   +8 more
core   +2 more sources

Clinical impact of follow‐up endomyocardial biopsy in myocarditis during or after immune‐suppressive therapy

ESC Heart Failure, EarlyView.
Results and clinical implication of repeat endomyocardial biopsy (EMB). Abstract Aims While the diagnostic role of endomyocardial biopsy (EMB) in myocarditis is unquestioned, little is known about its indications and clinical value during long‐term follow‐up.
Anna Baritussio, Andrea Silvio Giordani, Stefania Rizzo, Cristina Vicenzetto, Monica De Gaspari, Elisa Carturan, Giuseppe Toscano, Federico Scognamiglio, Giuseppe Tarantini, Sabino Iliceto, Cristina Basso, Renzo Marcolongo, Alida Linda Patrizia Caforio   +12 more
wiley   +1 more source

Role of desmoplakin mutations in the pathogenesis of non-compaction [PDF]

Europace, 2014
With interest we read the article by Lopez-Ayala et al .1 about 3 families (49 probands) in which 3 unrelated heterozygote probands and 15 asymptomatic relatives carried a novel desmoplakin mutation. In six of the mutation carriers, left ventricular hypertrabeculation/non-compaction (LVHT) was diagnosed.1 We have the following comments and concerns ...
Josef Finsterer, Claudia Stöllberger
openaire   +2 more sources