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In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.

In this study, manipulation of the enzyme 5α-reductase type 2 in human hepatocytes altered lipogenesis, suggesting clinical implications for patients using 5α-reductase inhibitors by affecting glucocorticoid action on hepatic lipid metabolism.

This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.

This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.

This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.

This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.

This review examines the diverse roles of SRD5α enzymes across species, focusing on their involvement in steroid synthesis, sexual development, and various physiological processes, but reports no new clinical results.

This study presents the first report on cloning and characterizing the full-length cDNA of SRD5A1 in Indian catfish (Clarias magur), revealing expression differences across reproductive phases and increased expression post-Ovatide administration in ovaries and testis.

This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.

This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.

This study found that higher baseline expression of SRD5A2 in prostate tissue was associated with a better response to finasteride in men with benign prostatic hyperplasia.

This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.

In this review, the authors highlight the involvement of the 5α-reductase enzyme family in androgen-dependent disorders, noting the discovery of a novel isoform, SRD5A3, which is overexpressed in cancers with poor prognosis.

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

This study found that SDR5A1 gene expression was similar between hirsute women, normal women, and men, suggesting it may not explain differences in hair growth among these groups.

This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.

This study found that SRD5a-3 is a highly efficient enzyme for converting hormones into androgens, with dutasteride being a much more potent inhibitor of SRD5a-3 than SRD5a-2.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.