Functional analysis of 11 CYP21A2 variants reveals greater loss of enzyme activity in cis variants and improves genotype-phenotype correlation in 21-hydroxylase deficiency.
Long-read sequencing (LRS) provides a superior, integrated solution for the molecular diagnosis of 21-OHD, offering precise structural variant characterization, accurate carrier detection, and reliable breakpoint mapping.
Yan-Jie Xia, Di Cui, Dan-Hua Li et al.· Journal of Molecular Diagnos...· 0 citations
Functional assays alone could not explain the wide phenotypic variability observed in individuals carrying novel NR5A1 variants; however, variants located within the A-box or AF-2 domains appeared to display greater functional tolerance.
Di Mao, Le-Le Li, Li-Jun Fan et al.· Sexual Development· 0 citations
5α-Reductase type 2 deficiency (5α-RD2) is an autosomal recessive differences/disorders of sex development caused by
SRD5A2
gene mutations, characterized by impaired testosterone-to-dihydrotestosterone conversion and highly heterogeneous clinical phenotypes. The genotype-phenotype correlation of 5α-RD2 remains...
Kun Wang, Bing-Bing Shi, Li-Li Huang et al.· Frontiers in Endocrinology· 0 citations
Context 17α-hydroxylase/17,20-lyase deficiency (17-OHD), a rare congenital adrenal hyperplasia driven by biallelic CYP17A1 variants, shows extensive clinical and molecular heterogeneity; data on rare phenotypes and genotype–phenotype patterns are scarce. Objective To characterize clinical, hormonal, gonadal pathologica...
He-Meng Chong, Yu-Tong Fu, Xuan Zhang et al.· Frontiers in Endocrinology· 0 citations
This dimensionality dominates the data, and a supervised ESM-2 sequence baseline was benchmarked against the ESM1v zero-shot ensemble and AlphaMissense under position-based 5-fold cross-validation, together with three architectural extensions: AlphaFold structural features, multi-task learning across paired assays, and...
To elucidate the pathophysiology of 17-OHD by integrating phenotyping with functional and structural characterization of seven CYP17A1 variants, structural analysis may help predict clinical outcomes and fertility potential in 17-OHD.
Kai-Ge Li, J. Yakubu, Amit V. Pandey· European Journal of Endocrin...· 0 citations
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