30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
1 citations
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April 2023 in “Science Advances” This study found that sustained ERK activity during tissue regeneration in spiny mice is linked to fibroblast growth factor and ErbB signaling, while inhibiting ERK shifted regeneration toward scarring.
11 citations
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January 2015 in “Dermatology” This study found multiple factors, both inherited and acquired, that may lead to bradykinin-mediated angio-oedema, proposing a new classification based on bradykinin production and catabolism imbalance.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
11 citations
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January 2022 in “Theranostics” In this study, Wnt4 was identified as a key factor in cardiac repair, where its regulation in cardiac fibroblasts improved cardiac function and revascularization following ischemic reperfusion injury.