Results 21 to 30 of about 1,208,680 (158)
RhoGEF Ect2 supports RhoA activity at cell–cell junctions through desmoplakin [PDF]
Life Science AllianceWe describe a mechanism by which the desmosome component, desmoplakin, can recruit and control the activity of the contractile signaling regulator RhoA at cardiomyocyte and keratinocyte intercellular junctions, with implications for cardiocutaneous ...
Hoda Zarkoob +8 more
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Indian Pacing and Electrophysiology Journal, 2005 Since 1995, according to the World Health Organisations 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
Adalena Tsatsopoulou +1 more
doaj +1 more source
A Young Man With Recurrent Syncope
Annals of Internal Medicine: Clinical Cases, 2023 A 35-year-old man presented with recurrent syncope. On examination, wooly hair and palmoplantar hyperkeratosis were seen. Cardiac magnetic resonance imaging showed late gadolinium enhancement, and a genetic test ultimately confirmed the diagnosis of ...
Clement Lee, Anjali Owens
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Phenotypic diversity of frontotemporal lobar degeneration in two novel GRN variants from Colombia. [PDF]
Alzheimers DementAbstract INTRODUCTION Pathogenic progranulin (GRN) variants are among the main genetic causes of frontotemporal lobar degeneration (FTLD). These variants have been predominantly reported in European cohorts, but their characterization in Latin America remains scarce.
Barbosa-Carvajal JP +10 more
europepmc +2 more sources
Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy
Chinese Medical Journal, 2021 . Desmoplakin (DSP), encoded by the DSP gene, is the main desmosome component and is abundant in the myocardial tissue. There are three DSP isoforms that assume the role of supporting structural stability through intercellular adhesion. It has been found
Zhong-Yu Yuan +4 more
doaj +1 more source
BMC Medical Genomics, 2023 Background Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous ...
Malena P. Pantou +7 more
doaj +1 more source
Manuel Carvajal, el estratega [PDF]
, 2016 Además de la magnitud y variedad de macro-proyectos regionales y nacionales impulsados por Manuel Carvajal, su vida tuvo un eje y una constante: su gestión como gerente de Carvajal & Cía., que abarcó un poco más de tres décadas, desde 1939 hasta 1971 ...
Borrero Caldas, Silvio +2 more
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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.
Cátia Santos-Ferreira +3 more
doaj +1 more source
First record of Macropholidus ruthveni Noble 1921 (Squamata: Gymnophthalmidae) from Ecuador [PDF]
, 2015 The gymnophthalmid lizard clade Macropholidus, traditionally ranked as a genus, was recently defined by Torres-Carvajal and Mafla-Endara (2013) as the largest crown clade containing Macropholidus ruthveni Noble1921, but not Pholidobolus montium Peters ...
Torres Carvajal, Lenin Omar
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Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect
Orphanet Journal of Rare Diseases, 2006 Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
Protonotarios Nikos +1 more
doaj +1 more source