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This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.

This study found that Epstein-Barr virus infection upregulated a truncated variant of human basic hair keratin 1 (hHb1-ΔN) in gastric carcinoma cell lines, suggesting a possible link to carcinoma differentiation.

In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.

This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.

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 study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

In this mouse study, researchers found that the absence of laminin-511 in skin delays hair follicle development and disrupts hair shaft differentiation, affecting key transcription factors for hair keratins.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

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.

In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.

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

This study analyzed the genetic variations of the KAP20-1 gene in Chinese Tan sheep lambs and found that the G variant was linked to an increased mean fibre curvature in their fine wool fibres, potentially influencing breeding strategies for this wool trait.

This study found that keratin 15 expressing cells from the hair follicle contribute to the development and long-term persistence of cutaneous papillomas in transgenic mice, with a subset showing the Ha-ras mutation.

This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.

This study found that knocking out the transactivation domain of Miz1 in mouse keratinocytes disrupted hair follicle orientation, caused irregular pigmentation, and increased keratinocyte proliferation, indicating Miz1's role in hair follicle development and morphogenesis.

This study found that rapamycin effectively inhibits TPA-induced keratinocyte proliferation and skin tumor promotion by targeting mTORC1 signaling in both wild-type and transgenic mice.

AGC2-1 protein is essential for root hair growth in Arabidopsis.

This study suggests that hair keratin gene mutations in mice may be linked to specific loci on chromosomes 11 and 15, potentially influencing keratin expression or structure.

This study found that nexin 1 mRNA, a potent protease inhibitor, is prevalent in rat follicular papilla cells and may play a role in regulating hair follicular growth.

This study found that AP-2α and AP-2β transcription factors are crucial for maintaining adult skin homeostasis, with their inactivation in keratinocytes leading to impaired differentiation, hair abnormalities, and inflammation, highlighting their key regulatory roles.

This study found that the Bsk phenotype in mice did not result from a recombination event between specific keratin genes, leaving the gene linked to this mutation unidentified.

This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.

This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.

This study identified FP-1 as a highly specific extracellular matrix protein in follicular papilla cells, which may play a role in hair growth regulation during specific hair cycle phases.

A certain gene variation can affect protein production and is linked to male pattern baldness.

A woman developed rare, unexplained curly hair on her scalp and eyelashes.

In this study, researchers found that Gab1 is critical in controlling the hair cycle and the self-renewal of hair follicle stem cells in mice.

This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.