ArticleMolecular genetics & genomic medicine2020
Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Genetic Susceptibility and Pathogenesis of Hypospadias.Biochemical genetics · 2026Review
- Androgen Signaling in Prostate Cancer: When a Friend Turns Foe.Endocrine, metabolic & immune disorders drug targets · 2025Review
- Understanding the Endocrine and Molecular Signaling Cascade Regulation Pathways in Children with Hypospadias.Journal of pediatric genetics · 2024Article
- Retrospective studies and quantitative proteomics reveal that abnormal expression of blood pressure, blood lipids, and coagulation related proteins is associated with hypospadias.Human genetics · 2024Article
- Article
- The association and underlying mechanism of the digit ratio (2D:4D) in hypospadias.Asian journal of andrology · 2024Article
- Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization.Animals : an open access journal from MDPI · 2023Article
- Whole-exome sequencing study of hypospadias.iScience · 2023Article
- Molecular genetics and general management of androgen insensitivity syndrome.Intractable & rare diseases research · 2023Review
- Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients.Orphanet journal of rare diseases · 2022Article
- Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.Molecular genetics & genomic medicine · 2020Article
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5 authors.
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Abstract
backgroundThe aberrant expression of genes involved in androgen metabolism and genetic contribution are unclear in hypospadias.
methodsWe compared gene expression profiles by RNA sequencing from five non-hypospadiac foreskins, five mild hypospadiac foreskins, and five severe hypospadiac foreskins. In addition, to identify rare coding variants with large effects on hypospadias risk, we carried out whole exome sequencing in three patients in a hypospadias family.
resultsThe average expression of androgen receptor (AR) and CYP19A1 were significantly decreased in severe hypospadias (p < .01) and mild hypospadias (p < .05), whereas expression of several other androgen metabolism enzymes, including CYP3A4, HSD17B14, HSD3B7, HSD17B7, CYP11A1 were exclusively significantly expressed in severe hypospadias (p < .05). Compound rare damaging mutants of AR gene with HSD3B1 and SLC25A5 genes were identified in the different severe hypospadias.
conclusionsIn conclusion, our findings demonstrated that dysregulation of AR and CYP19A1 could play a crucial role in the development of hypospadias. Inconsistent AR expression may be caused by the feedback loop of ESR1 signaling or combined genetic effects with other risk genes. This findings complement the possible role of AR triggered mechanism in the development of hypospadias.
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