12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
5 citations
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November 2022 in “Diversity” This review highlights the potential of indigenous southern African foods rich in phytochemicals and soluble dietary fibers to combat cardiovascular disease in economically disadvantaged urban populations in South Africa by improving dietary diversity and affordability.
3 citations
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January 2010 in “Journal of The European Academy of Dermatology and Venereology” This article provides no abstract or new research findings on the androgenic pattern presentation of scarring and inflammatory alopecia.