Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.

This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.

This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.

This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.

This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.

This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.

AGA causes permanent hair loss; minoxidil helps men, finasteride helps men, minoxidil somewhat helps women, estrogens/antiandrogens lack evidence for women.

This chapter classifies various benign skin tumors and discusses their characteristics, treatment indications, and potential for recurrence, but reports no new clinical findings.

This study reviewed recent theories on alopecia areata's pathogenesis, highlighting its autoimmune nature due to immune privilege disruption in hair follicles, and noted current treatments have limited efficacy with high relapse rates, underscoring the need for further research into its mechanisms for better therapies.

Humans lost body hair relatively recently in evolution.

This review discusses recent discoveries about the role of Eda and other TNF-related cytokines in skin appendage development and reports no new experimental results, highlighting developments since the last comprehensive summary in 2003.

This study found that METTL1 is upregulated in papillary thyroid cancer tissues and promotes cancer cell proliferation and metastasis through its tRNA methyltransferase activity.

This study provides the first draft of the male Asiatic lion's whole genome, revealing low genomic diversity and highlighting conservation concerns.

This study found that the protein C4BPA may link insulin resistance and acne vulgaris by influencing lipid metabolism and inflammatory pathways, suggesting it as a potential mediator in the pathogenesis of both conditions.

This review discusses the effects of estrogens on skin aging and highlights the potential benefits of estrogen replacement therapy and selective estrogen receptor modulators for improving skin health in postmenopausal women, but reports no new clinical findings.

This study identified three candidate genes (CORT, FGF5, and CD36) associated with cold climate adaptation in Yanbian cattle through genome resequencing and comparison with African tropical cattle.

This study found that specific polymorphisms in the VDR gene, Taq1, and Cdx1, were significantly associated with increased risk of chronic telogen effluvium in women.

This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

This review covers androgenetic alopecia's epidemiology, pathogenesis, current management options, and research trends, concluding that no definitive cure exists despite extensive interest and ongoing genetic research efforts.

This review discusses current knowledge of keratinocyte stem cell dynamics, including their regenerative roles and potential applications beyond wound healing, but presents no new clinical findings.

This study demonstrated effective delivery of CRISPR/Cas9 components to dermal papilla cells in androgenic alopecia animals using ultrasound-activated nanoparticles, resulting in specific gene editing and hair growth recovery.

The researchers reported that keratin 33A is a structural protein specific to goat cashmere hair, with increased winter expression in high-cashmere-producing breeds.

This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.

This review discusses the reclassification of pregnancy-related skin diseases and provides a management algorithm but reports no new clinical findings.

This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.

This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.

This case study found that a 7-year-old girl's crystalline cataract had sulfur-containing amino acids likely cystine, and was associated with abnormal hair conditions.

This study observed significant differences in hair and cashmere properties among three goat breeds in Southwest China, noting better quality cashmere in Inner Mongolia cashmere goats and their crossbreed compared to Dazu black goats.