Results 1 to 10 of about 1,134,764 (129)

Cardiocutaneous syndrome is caused by aggregation of iASPP mutants [PDF]

Cell Death Discovery
The ASPP (apoptosis-stimulating protein of p53) family of proteins is involved in many cellular interactions and is starting to emerge as a major scaffolding hub for numerous proteins involved in cancer biology, inflammation and cellular integrity.
Rebecca Lotz, Christian Osterburg, Birgit Schäfer, Xin Lu, Volker Dötsch   +4 more
doaj   +6 more sources

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

Orphanet Journal of Rare Diseases
Background Naxos disease variant (Carvajal syndrome) is a cardiocutaneous genetic disease caused by Plakoglobin and Desmoplakin gene mutation, and usually manifests with woolly hair, palmoplantar keratoderma, and cardiomyopathy, and are found to have a ...
Maha Binfadel, Mohamed Umair Aleem, Mohammed Alhabdan, Nadiah Alruwaili, Zuhair AlHassnan, Olga Vriz, Sahar Tulbah, Dimpna Calila Albert-Brotons   +7 more
doaj   +5 more sources

A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis [PDF]

Journal of Clinical Medicine, 2023
Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (DSP) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old man presenting with a history of cardiomyopathy with recurrent sustained
Tolga Çimen, Antonios Kolios
exaly   +8 more sources

Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect [PDF]

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, Tsatsopoulou Adalena   +1 more
doaj   +5 more sources

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome

American Journal of Medical Genetics, Part A
ABSTRACT Dilated cardiomyopathy (DCM) is a rare disease in children and a leading cause of heart failure. There are numerous causes of DCM including genetic causes leading to isolated or syndromic presentations, with a wide variety of implicated genes.
Pauline le Tanno
exaly   +4 more sources

RhoGEF Ect2 supports RhoA activity at cell–cell junctions through desmoplakin [PDF]

Life Science Alliance
We 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, Chen Y Kam, Jennifer L Koetsier, Erin McCarthy, Avinash Jaiganesh, David P Kelsell, Farah Sheikh, Lisa M Godsel, Kathleen J Green   +8 more
doaj   +2 more sources

Homozygous PPP1R13L Mutation Associated with Dilated Cardiomyopathy in a 1-Year-Old Child [PDF]

Life
Introduction: Dilated cardiomyopathy (DCM) is a relatively rare manifestation of pediatric heart failure. Despite recent diagnostic advancements and expanded screening modalities, the underlying cause of DCM remains elusive in over 50% of pediatric cases.
Adelina-Mihaela Sorescu, Cristina Isabel Viorica Ghiță, Gabriela Duică, Alin Nicolescu, Eliza Elena Cinteză, Rachele Adorisio, Antonio Amodeo, Paola Francalanci, Gianluca Brancaccio, Gessica Ingrasciotta, Erica Mencarelli, Oana Andreia Coman   +11 more
doaj   +2 more sources

Left-dominant arrhythmogenic cardiomyopathy due to desmoplakin mutation: a case report. [PDF]

ESC Heart Fail, 2023
Abstract The case of a 49‐year‐old man with acute onset of heart failure is presented. The initial work‐up showed a dilated cardiomyopathy with severely reduced left ventricular ejection fraction. In the differential diagnostic process, hypertensive, ischaemic, and valvular aetiologies were discarded. Subsequently, a cardiac magnetic resonance revealed
Lemus Barrios GA, Lopez-Lopez JP, Barbosa-Balaguera S, Correa AM.   +3 more
europepmc   +2 more sources

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity. [PDF]

Exp Dermatol, 2022
Abstract Desmoplakin (DP) is an important component of desmosomes, essential in cell–cell connecting structures in stress‐bearing tissues. Over the years, many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or a combination, known as a cardiocutaneous syndrome. Of less than 5% of the reported
Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC.   +11 more
europepmc   +2 more sources

Desmoplakin mutation underlying autosomal dominant arrhythmogenic cardiomyopathy, palmoplantar keratoderma, and curly hair [PDF]

JAAD Case Reports, 2023
Colin Kincaid, BS, Luke Horton, MD, Brian Cheung, MD, Ilhan Esse, BA, Irmina Gradus-Pizlo, MD, Natasha Atanaskova Mesinkovska, MD, PhD   +5 more
doaj   +2 more sources