Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.

This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.

This study found that keratin-associated proteins related to metallothionein and occludin appear in various animals, suggesting they may have roles beyond hair characteristics and were later adapted for hair production.

In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.

This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.

This study found that keratin K1014chim expression in mice did not reduce epidermal cell proliferation but increased susceptibility to benign tumors, challenging previous beliefs about K10's role in inhibiting tumor development.

This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.

This study found that abolishing H3K27me3 in mouse skin by targeting Ezh2 and Ezh1 affects hair follicle development and epidermal behavior, revealing functional differences between these tissues.

This study found that deleting the Hes1 gene disrupts hair regeneration by delaying anagen initiation and shortening the anagen phase, suggesting it's crucial for maintaining hair cycle homeostasis.

This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.

This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This study highlights that human hair follicle dermal papilla cells and glypicans play crucial roles in regulating hair follicle stem cell differentiation.

This study found that the mK6alpha and mK6beta genes in mice are regulated differently at the mRNA level, with implications for understanding K6 gene evolution and function in mammals.

This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

This study on Indian dromedary camel breeds investigated the KRTAP7 protein, finding all four breeds shared an identical gene sequence, with 13 phosphorylation and glycosylation sites influencing hair characteristics, alongside predicted interactions with other biosynthesis-related proteins.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.

This study suggests that activating AMPK to phosphorylate ZDHHC13 may enhance MC1R function and reduce melanoma risk in individuals with red hair.

This review discusses the diversity of keratins and keratin-associated proteins in wool and hair, noting significant variation in their families, with no new results reported; the authors detail known protein structures without experimental findings.

This study found that in mouse pancreatic β-cells, the disruption of keratin filaments due to a specific mutation in keratin 18 resulted in altered GLUT2 localization, with less GLUT2 present on the plasma membrane compared to cells with normal keratin.

This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.

This study found that Rac1 activity in specific skin compartments is sufficient for hair formation, but results in hair with altered structure and pigmentation compared to normal.

This case report documents acquired progressive kinking of the hair in a prepubertal boy but does not provide new clinical results.

This study found that the absence of Sgk3 in mice leads to impaired hair follicle maturation, characterized by reduced cell proliferation, increased apoptosis, and premature regression.