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In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.

This study found that among patients with inflammatory bowel disease, those with the NUDT15 mutation had a reduced tolerance for thiopurine dosage over the long term and were more likely to require hospitalization and surgery compared to those without the mutation.

This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

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 two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.

This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.

This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.

In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.

Recognizing minor skin lesions can help identify serious cancer syndromes.

Hairless protein helps control hair growth by regulating vitamin D receptor activity.

This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

This article reviews approved treatments for androgenetic alopecia and reports no new research findings, highlighting the need for further studies.

This study suggests that mNotch expression plays a significant role in hair follicle differentiation and cell fate selection within the follicle during development.

This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.

This study found that Hairless (HR) and putrescine form a negative regulatory network that impacts epidermal homeostasis and hair follicle cycling, linked to the MYC superfamily's regulation of ODC expression.

A specific gene mutation causes woolly hair and hair loss.

This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.

This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.

This study identified specific lncRNAs and mRNAs differentially expressed in miniaturized follicles compared to normal follicles in patients with androgenetic alopecia, with AL136131.3 potentially inhibiting hair growth and accelerating follicle transition to catagen through effects on glycolysis-related genes.

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

This study suggests that miRNAs, particularly miR-195-5p, may regulate the loss of hair follicle inductivity in cultured dermal papilla cells by suppressing the Wnt/β-catenin pathway.

This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.

In this study, researchers developed a method to automatically detect androgen receptor nuclear translocation in dermal papilla cells using fluorescence markers and image analysis, finding that the receptor's nuclear signal peaks about 20 minutes after DHT exposure.