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This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.

This study describes a mouse model for Marie Unna Hereditary Hypotrichosis, identifying mutations in the hairless gene that result in sparse or absent hair and cyst-like hair follicles.

This study found that the long non-coding RNA lnc056 promotes the proliferation of hair follicle stem cells by upregulating TRIP6 expression through interaction with the transcription factor HNRNPUL1, suggesting a potential target for hair loss treatment.

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 the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.

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.

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

This study found that keratin 19, unlike keratin 14, forms less stable filaments with keratin 5, suggesting distinct assembly properties and potential unique roles in skin basal cells.

This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.

This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.

This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.

This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.

This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.

This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.

This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.

This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.

This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.

This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.

This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.

This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.

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 identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.

This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.

In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.

A new mutation in the HR gene causes hair loss in a specific family.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.