This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
10 citations
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August 2012 in “Current Problems in Pediatric and Adolescent Health Care” This review explores hair signs related to nutrition disorders, such as thin and dyspigmented hair, without presenting new clinical findings; the authors highlight unknowns regarding underlying causes.
4 citations
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November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
