Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

This case report describes a 16-month-old girl with atypical acrodermatitis enteropathica who showed marked improvement after zinc supplementation despite normal serum zinc levels.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This study found that SNPs in the MVK, ARPC1B, and CA2 genes may indicate a genetic predisposition for severe acne related to steroidogenesis.

This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.

In this study, researchers explored the effects of various medications on eye health, noting that systemic and local ophthalmic drugs can lead to both widespread and specific ocular side effects, with serious adverse events most associated with neurotropic, immunotropic, and antitumor medications.

This abstract serves as a promotional notice for a book titled "Essentials of Food Science and Nutrition" by several authors, offering it for sale at a low price, but does not report any research results.

This study systematically reviewed meta-analyses and Mendelian randomization studies to identify factors influencing prostate cancer risk, finding suggestive associations for physical activity, height, and smoking but no robust, convincing overlapping evidence across tested factors.

This study concluded that UK law falls short in ensuring effective workplace equality for individuals with visible differences, suggesting amendments to the definition of disability and other legal reforms as potential solutions.

This review discusses the transformative potential and challenges of using AI in cosmetic dermatology, highlighting how AI is enhancing diagnostics, treatment personalization, and patient satisfaction while addressing issues such as data quality and ethical concerns in order to ensure responsible and ethical implementation.

This study designed a micromold template for creating controlled-sized, multicellular tumor spheroids, finding that HEK-293 cells formed consistent spheroids with high circularity and viability after 7 days, influenced by cell seeding density and treatment conditions.

This review serves as a comprehensive guide to hair pathology with clinical correlations but does not provide new clinical results.

This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.

This study identified TGF-β2 as a crucial signal in hair follicle stem cell regeneration, highlighting its role in counteracting BMP signaling to promote tissue regeneration.

This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.

This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.

This review discusses guidelines for acitretin use in dermatology, reporting its efficacy in severe psoriasis and recommendations for combination therapies, without providing new clinical trial results.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.

This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.

This review found that the DLQI is widely used as a benchmark in the development and validation of dermatology quality-of-life measures.

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

In this study, genetic variants in the KRT25 and SP6 genes were found to be responsible for curly hair in horses, with the KRT25 variant also causing hypotrichosis due to an epistatic effect.

This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

This study reported that the Computational Analysis of Novel Drug Opportunities platform effectively uses integrated biological data, including side effects and pathways, to generate potential drug candidates for colon cancer and migraine disorders.

This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.