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In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.

A mutation in the KRT25 gene causes woolly hair and hair loss.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.

This article reviews the pattern and progression of androgenic alopecia in men and women, but it does not present new clinical findings.

This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

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 identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.

This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.

This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.

This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.

This review explored the relationship between autoimmune thyroiditis and various autoimmune skin conditions, highlighting shared genetic markers and immunological mechanisms, such as disrupted immune tolerance and oxidative stress, which may contribute to the development of these disorders.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.

This thesis investigates the role of phosphorylation and the mutation F826L in modulating androgen receptor activity, but concludes that the precise effects are not yet fully clear.

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 suggests that the AGA risk haplotype in Europeans was driven to high frequency by positive selection, likely associated with a variant in the EDA2R gene.

In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.

This study found that scalp disorders, such as hair loss and itching, can be associated with collagen VI mutations, thus highlighting the need to investigate scalp involvement in these patients.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.

This review discusses the role of genetic mutations and environmental endocrine disruptors in insufficient androgen action, which can result in conditions like hypospadias, cryptorchidism, and micropenis, during male fetal development.

In this study, engineered mice with a mutation similar to that in Olmsted syndrome showed progressive hair loss due to impaired inner root sheath keratinocyte differentiation and stem cell exhaustion.

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.

This review summarizes structural insights into androgen receptor dynamics, highlighting its flexibility in binding numerous partners, which may explain adaptive resistance mutations in cancer and loss of function in androgen insensitivity syndrome.

This review proposes a theoretical model for treating androgenetic alopecia using STEAP3 protein, based on recent findings about genetic mutations affecting molecular pathways, but emphasizes that this hypothesis needs validation through laboratory and clinical studies.

This article reviews the potential causes of insufficient androgen action during fetal development, such as enzyme and receptor gene mutations or environmental disruptors, but reports no new results.

In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.

In this study, researchers found that the absence of type I or type II keratins in mice leads to severe skin barrier defects, highlighting keratins' crucial role in epidermal structure and function.