Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.

This study found that specific genetic changes in both coding and noncoding regions may have independently driven the evolution of hairlessness in various mammalian species through accelerated evolution.

In this study, researchers used an evolutionary-rate-based method to identify genetic elements associated with reduced hair in mammals, finding a dichotomy between accelerated coding sequences and noncoding regulatory elements influencing hair growth.

This study suggests that specific genetic changes, including mutations in protein-coding genes and noncoding regions, have contributed to the evolution of hairlessness in multiple mammalian species.

This study identified genetic regions evolving at different rates in hairless mammals, suggesting that specific genomic changes may contribute to the evolution of hairlessness across various species.

This study found that a missense mutation in the FGF5 gene is associated with hair-length differences among various dog breeds.

This study found that genetic variants in the goat KRTAP22-2 gene are associated with the mean fiber diameter of cashmere in Longdong Cashmere goats, suggesting these variants could serve as molecular markers for improving cashmere traits.

This study investigated adenosine-to-inosine RNA editing in the hair follicle cycle of Tianzhu white yak, identifying numerous editing sites and suggesting their involvement in pathways related to hair growth.

This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.

In this study, researchers identified two independent genetic variants near the androgen receptor gene strongly associated with androgenetic alopecia in men.

This study observed that 5% minoxidil topical foam alters gene expression and signaling pathways in the scalp, providing insights into its mechanism of action in men with androgenetic alopecia.

In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.

This study found that Foxn1-like genes in fish and mice are functionally equivalent in activating hair keratin genes, whereas changes in the cephalochordate Foxn1-like gene result in inactivity.

This study characterized the mouse profilaggrin gene, finding it structurally identical to its human counterpart, and noted differences in protein-coding regions that could impact epidermal differentiation.

This study analyzed the KRTAP7 gene in four Indian camel breeds and found that the gene sequences were identical across breeds, with no observed SNPs in coding or non-coding regions.

This study explored the genetic basis of fiber diameter in alpacas, identifying candidate genomic regions including four significant areas on VPA6, VPA9, VPA29, and an unassigned scaffold, using whole genome association analysis and a custom SNP microarray.

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.

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.

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

This study successfully cloned the KAP6.1 gene from Xinjiang fine-wool sheep and found its genetic sequence has high homology with sheep and goat sequences, indicating close genetic relationships.

This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.

This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.

This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.

This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.

This study utilized targeted genomic sequencing and whole exome sequencing to identify novel common and rare genetic variants in Alopecia Areata, revealing potential mechanisms contributing to disease susceptibility.

This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.