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This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

This study found that castration-resistant prostate cancers resistant to CYP17A1 inhibitors may still depend on steroids and could respond to therapies targeting de novo intratumoral steroid synthesis.

This study found that depletion of TACE in mouse hair follicles led to impaired stem cell maintenance and hair loss, implicating TACE and EGFR signaling in hair follicle stem cell homeostasis.

In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.

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.

In this study, the presence of the HPV11-E2 protein in transgenic mice was found to increase and vary the expression of a reporter gene in hair follicle bulge regions.

This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.

This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

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

A specific mutation in PA-PLA1α causes abnormal hair growth.

This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.

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 study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.

This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.

This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.

This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.

This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.

In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

This research explores the potential role of the Stx17 protein in hair pigmentation processes and Alopecia Areata, suggesting possible links to the disease's progression.

This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.

This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.

This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.