Associated Papers
Molecular insights into CYP19A1 mutations and their role in estrogen production.
Lee YB et al.
Archives of Biochemistry and Biophysics, 2025
Computing pathogenicity of mutations in human cytochrome P450 superfamily.
Mondal S et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic
Bone Disease Associated with Inactivating Aromatase Mutations and its Management.
Cavati G et al.
Calcified Tissue International, 2025
In silico analysis of nsSNPs in CYP19A1 gene affecting breast cancer associated aromatase enzyme.
Pavithran H et al.
Journal of Genetics, 2021
Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature.
Fan L et al.
Clinical Endocrinology, 2020
Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.
Praveen VP et al.
Journal of the Endocrine Society, 2020
A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men.
Sato Y et al.
Journal of Human Genetics, 2016
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect.
Marino R et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism.
Chen Z et al.
Molecular and Cellular Endocrinology, 2015
Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.
Bouchoucha N et al.
Molecular and Cellular Endocrinology, 2014
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