Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that sebaceous gland-derived cutaneous adnexal carcinomas exhibited the highest frequency of genomic alterations compared to other tumor types.

This case report highlighted a rare occurrence of both adrenocortical carcinoma and uric acid kidney stones in a 5-year-old boy, with hormonal levels and clinical symptoms returning to normal after treatment and no recurrence over four years, emphasizing comprehensive endocrine evaluations in pediatric ACC management.

This review discusses the harmful effects of coloring shampoos containing trihydroxybenzene on the scalp-skin barrier and emphasizes the need for safer ingredient selection to prevent side effects.

This study suggests that the growth arrest of nevus melanocytes is not due to oncogene-induced senescence but rather to collective cell interactions, similar to those in normal tissue size regulation.

Mutations in the P2RY5 gene cause hereditary woolly hair.

This review discusses the genetic pathways involved in melanoma and suggests that targeting these pathways with pharmacological inhibitors may provide a new therapeutic approach, though clinical results have been disappointing so far.

This paper reviews the evolution of skin appendages and keratin-associated proteins among amniotes, proposing a model for their genetic divergence without new experimental results.

This article discusses the potential of induced pluripotent stem cells (iPSCs) for generating skin components, particularly for genetic skin disorder modeling and gene-corrected regenerative therapies, but reports no new clinical results.

In this study, the genotoxic effects of the 2020 harmful algal bloom event were linked to specific toxic algal groups affecting Tradescantia plants, making Trad-SHM and Trad-MN tests suitable for evaluating HABs' toxic potential.

This review discusses unspecific factors involved in the pathogenesis of skin diseases and potential ways cytokeratin changes might alleviate these conditions, but reports no new clinical results.

This review summarizes recent advances in understanding the molecular mechanisms of hair follicle formation and discusses potential future clinical applications for treating hair loss and skin tumors, but it reports no new clinical results.

This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.

This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.

The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.

Mutations in β1 integrins cause embryonic death but have milder effects on skin.

This review explored the relationship between autoimmune thyroiditis and various autoimmune skin conditions, highlighting shared genetic markers and immunological mechanisms, such as disrupted immune tolerance and oxidative stress, which may contribute to the development of these disorders.

The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.

The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.

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 review examines lesser-known factors contributing to polycystic ovarian syndrome and reports no new clinical results, emphasizing the need for further research into individualized treatment and prevention strategies.

A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.

This study suggests that hair loss was a metabolic adaptation allowing hominids to evolve larger brains by alleviating dietary restrictions on essential amino acids for hair and brain development.

Japanese researchers created new hair follicles from human cells that grew hair when put into mice, and other findings showed a link between eye disease severity and corneal thickness, gene mutations affecting hearing and touch, and the safety of the shingles vaccine for adults over 50.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.

This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.

This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.

This study found that mutations in phosphorylation sites on the PIN3 protein disrupt its phosphorylation and subcellular trafficking, affecting auxin transport and root growth in a cell-type-specific manner.

This study found that specific mutations in the spike protein of SARS-CoV-2 may significantly alter its structure and affect how it binds to certain inhibitors, but experimental studies are needed to confirm potential clinical implications.

This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.