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This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.

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 found that patients with alopecia areata and their healthy family members had elevated levels of Th1- and Th17-related cytokines, suggesting a genetic link in cytokine dysregulation.

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

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 investigated the gene and protein expression differences in early and late feathering chickens, identifying several pathways, like JAK-STAT and WNT, potentially involved in non-Mendelian feather growth regulation.

This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.

In this study, researchers found that none of the participants were color blind and reported varying lengths of index and ring fingers among them, exploring a possible link between these finger length ratios and sex-influenced gene expression.

In this study, the researchers reported that altering β-catenin signaling in a transgenic mouse model led to changes in skin cell fate, notably converting hair follicle cells into epidermal cells and forming cysts instead of follicles.

This article discusses the use of forensic DNA phenotyping to infer physical characteristics from biological samples without a reference sample, aiding investigations but raising ethical and legal concerns.

The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.

This study reports that the transgenic expression of Dsg1 in mice rescued the severe B6-Dsg3−/− phenotype and created a syngeneic mouse model of pemphigus vulgaris, which may aid in understanding autoimmunity mechanisms.

This study reports that a new nude allele, nu(StL), encodes a truncated Whn transcription factor affecting T-cell development and keratin gene expression, with notable differences from the original Whn(nu) mutation.

In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

This study found that a missense mutation in the FGF5 gene is associated with hair-length differences among various dog breeds.

This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.

This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.

In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.

This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.

This study found that men with adrenomyeloneuropathy often experience diffuse hair loss and severe male-pattern baldness, potentially due to the X-linked ALD mutation's role in androgenetic alopecia's genetic spectrum.

This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.

This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.

This study found diverse responses to the androgen dihydrotestosterone in rodent tissues, with most androgen-regulated processes being specific to particular tissues.

This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.

This study concluded that pseudopelade is an autosomal dominant condition, distinct from other forms of alopecia, characterized by atrophic hair follicle loss and notable familial association.

This paper discusses forensic DNA phenotyping, emphasizing its ability to infer visible traits from biological samples without reference samples, but notes ethical and legal concerns related to its use.

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.