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This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

In this study, researchers observed that acute stress increased levels of the enzyme 5αR2 in the medial prefrontal cortex of male rats, affecting stress reactivity, but this effect was not seen in females.

This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.

This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This review discusses the potential role of steroid 5α-reductase inhibitors in treating neuropsychiatric disorders related to dopaminergic hyperreactivity but reports no new clinical results.

This study suggests that CTHRC1, a protein expressed in cardiac fibroblasts, may improve wound repair and prevent cardiac rupture after myocardial infarction by activating a specific signaling pathway.

This study identified ten novel compounds that may effectively target steroid 5 alpha-reductase 2 (5αR-2) for potential treatment of benign prostate hyperplasia, exhibiting comparable binding energies to existing drugs like finasteride and dutasteride.

This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.

This review discusses the biochemical properties and clinical significance of 5 alpha-reductase isozymes and reports no new clinical results.

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.

In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.

This study used homology modeling to create a detailed in silico structure of 5α-reductase type II, suggesting it can aid in designing steroid reductase drugs.

This study found that untreated hirsute patients have lower expression of type 2 17β-HSD mRNA in scalp hairs, indicating potential disturbances in androgen metabolism, compared to treated hirsute patients.

This study found that epitestosterone, a stereoisomer of testosterone, is metabolized to 5α-dihydroepitestosterone by human 5α-reductase enzymes, which enhances its androgenic activity and reduces its antagonistic effect on testosterone-driven androgen receptor signaling.

This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.

This study found that anabolic steroid use combined with plakoglobin deficiency caused pathological atrial electrical remodeling in young male mice, suggesting a higher risk of atrial myopathy for males with desmosomal gene variants.

This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.

This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.

In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.

This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.

This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.

In this study, dutasteride more effectively reduced prostate cancer cell viability than finasteride in vitro, but did not significantly alter the angiogenic response.

The authors concluded that increased expression of the HSD11B1 gene in adipose tissue correlates with obesity markers and predicts insulin resistance, but this association is independent of polycystic ovary syndrome when adiposity is controlled for.

This study found that 11α-hydroxyprogesterone is a potent inhibitor of 11βHSD2 in vitro and may serve as a precursor to unique C11α-hydroxy steroids in prostate cancer tissue.

This study found significant species differences in the enzyme activity and inhibitor affinities of prostatic 5α-reductases from rats, dogs, and humans, with variable potencies for different 3-oxo-4-azasteroid inhibitors across species.

This case report describes a 90-year-old man diagnosed with wild-type transthyretin cardiac amyloidosis, confirmed by pyrophosphate cardiac scintigraphy and exclusion of gene mutations.