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This study reported that ritlecitinib was generally well tolerated over 72 months in patients aged 12 and older with alopecia areata, with adverse events like headache and nasopharyngitis observed, and safety outcomes consistent with previous studies.

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.

Farudodstat may effectively treat alopecia areata without harmful side effects.

In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.

This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.

This study found that in an ex vivo model simulating alopecia areata, the DHODH inhibitor farudodstat reduced T-cell proliferation and MHC protein expression in hair follicles, suggesting it may protect against immune privilege collapse without cytotoxic effects.

This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

This audit of ritlecitinib prescribing for severe alopecia areata found that regional practices largely followed national guidelines but highlighted the need for better psychological assessments and more consistent use of SALT scoring to inform treatment continuation decisions after 36 weeks.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

A specific gene mutation causes woolly hair and hair loss.

This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.

This study found that treatment with ritlecitinib led to significant scalp hair regrowth in patients with alopecia areata at Weeks 24 and 48, with higher response rates observed in those receiving 50 mg compared to 30 mg doses.

This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

This case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

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.

In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.

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

This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.

This study found that ion-paired solutions significantly improved the skin penetration of risedronate in hairless mice compared to risedronate alone.

This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.

In this study, researchers detected all three genotypes associated with the MLPH gene's R199H polymorphism in a population of Czech pointer dogs, which is linked to coat color dilution.

In this study, a newly designed protein degrader targeting androgen receptors showed promise in reversing hair regrowth inhibition in a mouse model of androgenetic alopecia, suggesting potential as a novel and safe treatment strategy.

This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.

This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.

This study suggests that the T allele of the SNP rs2476601 in the PTPN22 gene may increase the risk of alopecia areata, although further studies are necessary to validate this finding across different populations.

This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.

This study found that patients with alopecia areata had higher plasma osteopontin levels compared to healthy controls, but complete recovery after DPCP treatment did not significantly reduce these levels.

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.