Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.

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.

This study identified a new keratin, K6irs, as a potential histological marker for the inner root sheath of hair follicles in mice and humans, and as a candidate gene for hereditary hair defects.

This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.

This study found that targeting HSP70 can suppress basal cell carcinoma growth, underscoring the importance of tumor microenvironment interactions in cancer progression.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.

This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

This review discusses multiple physiological roles of parathyroid hormone-related protein, such as cartilage mineralization and hair follicle regulation, and reports no new experimental results.

This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.

This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.

This study found that monoclonal antibodies can identify specific immunological characteristics of hair fibrous proteins, with some antibodies reacting only with hair proteins and others showing broader activity with skin and epithelial cells.

This study found that the chromatin remodeler Brg1 plays a crucial role in hair follicle maintenance and epidermal repair by regulating the Shh signaling pathway and forming a positive feedback loop.

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

A new mouse mutation causes skin and hair issues, influenced by another gene.

In this summary, the researchers describe the Brazilian keratin treatment as a popular hair-straightening process that originated in Brazil in 2003 and has since gained global traction, particularly for smoothing and straightening curly or frizzy hair through a keratin-based product and heat application.

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 suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.

This study found that rabbits with thymomas treated with radiation therapy had a median survival time of 313 days, increasing to 727 days excluding early deaths, with lower body weight linked to decreased survival.

This study found that a recessive mutation in the RHD4 gene of Arabidopsis thaliana leads to slower and more variable tip growth in seedling root hairs, resulting in shorter and wider hairs than in wild-type plants.

This study found that Eclipta alba Hassk. (Bhrungraj) significantly inhibited the growth of human liver cancer cells, suggesting its potential as an anticancer agent.

This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.

This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.

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.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

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

This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.