Carvajal syndrome: A variant of Naxos disease in two Saudi siblings
Nigerian Journal of Experimental and Clinical Biosciences, 2013 Naxos disease is a recessively inherited condition characterized by woolly hair, palmoplantar keratosis and arrhythmogenic right ventricular cardiomyopathy. A variant of this predominantly involving left ventricle has been termed as Carvajal Syndrome. We report two cases in a Saudi family admitted in our Pediatric Intensive Care Unit.
Yusuf Parvez, AbdulAziz Al-Hassan
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Physiologia Plantarum, Volume 177, Issue 4, July/August 2025.ABSTRACT Prevention is the most cost‐effective strategy for managing plant invasions, which includes defining the potential of exotic species to inhabit different environmental conditions. The limiting similarity hypothesis suggests that resemblance to native species facilitates the establishment and spread of exotics in a non‐native range.
Erola Fenollosa +2 more
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A requirement for STAG2 in replication fork progression creates a targetable synthetic lethality in cohesin-mutant cancers. [PDF]
, 2019 Cohesin is a multiprotein ring that is responsible for cohesion of sister chromatids and formation of DNA loops to regulate gene expression. Genomic analyses have identified that the cohesin subunit STAG2 is frequently inactivated by mutations in cancer.
Ashworth, Alan +4 more
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Food Risk Assess Europe, Volume 3, Issue 3, July 2025.Abstract The migratory phenomenon has had a significant demographic impact in Spain in recent years. Currently, 6.8 million foreign nationals have established their habitual residence in our country, representing 14 % of the total resident population. Within the acculturation process of the immigrant population ‐ through which they adopt the lifestyle ...
Irene Bretón Lesmes +6 more
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DORT: prevalência de Síndrome do Túnel do Carpo em uma indústria cerâmica no estado de Santa Catarina [PDF]
, 2001 TCC (especialização). Universidade Federal de Santa Catarina. Associação Catarinense de Medicina. Curso de Especialização em Medicina do TrabalhoA síndrome do túnel do carpo (STC) é a mais comum neuropatia periférica compressiva e provoca dor e ...
Figueredo, Roberto +1 more
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G-Protein coupled receptor signalling in pluripotent stem cell-derived cardiovascular cells: Implications for disease modelling [PDF]
, 2015 Human pluripotent stem cell derivatives show promise as an in vitro platform to study a range of human cardiovascular diseases. A better understanding of the biology of stem cells and their cardiovascular derivatives will help to understand the strengths
Dolatshad, NF +4 more
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DNAM-1 and the TIGIT/PVRIG/TACTILE Axis: Novel Immune Checkpoints for Natural Killer Cell-Based Cancer Immunotherapy [PDF]
, 2019 Natural killer (NK) cells are lymphocytes of the innate immune response characterized by their role in the destruction of tumor cells. Activation of NK cells depend on a fine balance between activating and inhibitory signals mediated by different ...
Alonso, Corona +12 more
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A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review. [PDF]
Clin Cosmet Investig Dermatol, 2023 Zhao XJ +8 more
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Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene [PDF]
, 2016 Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years.
Arrieta Saez, María Isabel +5 more
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Carvajal Syndrome : A New Case with Additional Dermatological Features
International Journal of Medical Science and Clinical Research StudiesCarvajal syndrome is a rare hereditary disease, stemming from a recessive mutation in the desmoplakin gene, crucial for cell adhesion. Its hallmark features include woolly hair, palmoplantar keratoderma, and dilated cardiomyopathy, primarily affecting the left ventricle of the heart 1.We report the case of an 18-month-old infant early diagnosed with ...
Hajar Moata +4 more
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