30 citations,
November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
52 citations,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
11 citations,
December 2017 in “Orphanet Journal of Rare Diseases” A novel homozygous p.Asp482Asn mutation in the ST14 gene, encoding the serine protease matriptase, was identified in a patient with ichthyosis-hypotrichosis syndrome (IHS) from a cohort of 180 ichthyosis patients. This mutation affected a critical ligand-binding domain of matriptase, expanding the known spectrum of IHS pathology. Histological and ultrastructural analyses revealed new features of the disorder, correlating genotypic and phenotypic characteristics and underscoring the clinical significance of the Asp482 residue in matriptase activation.
3 citations,
June 2019 in “Clinical nursing studies” Polycystic ovary syndrome (PCOS) lowers women's quality of life, especially mentally and socially, but nursing guidelines can improve their understanding of the condition.
January 2023 in “International journal of medical science and health research” Anovulatory PCOS patients are younger with longer cycles and higher blood pressure and hormone levels.