91 citations,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
18 citations,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
1 citations,
November 2008 in “Acta crystallographica” Scientists successfully created and analyzed the structure of a part of the human androgen receptor with specific modulators and a peptide to understand how it binds differently in various tissues.
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.
4 citations,
February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.