26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
March 2026 in “Folia Histochemica et Cytobiologica” LTBP1 is a key regulator in diseases and a potential target for new treatments.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
6 citations
,
December 2022 in “International Journal of Molecular Sciences” EZH2 is crucial for uterine gland development and female fertility.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
33 citations
,
August 2009 in “Journal of Investigative Dermatology” Overexpressing the epigen gene in mice leads to enlarged sebaceous glands and greasy fur.
1 citations
,
January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
January 2003 in “Springer eBooks” Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
12 citations
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December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.