Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

This study found that endothelial TLR2 is crucial for effective angiogenesis and timely wound healing, whereas TLR2 in hair follicle stem cells is not essential for skin regeneration.

In this study, 1% procyanidin B-2 tonic significantly increased the number of total and terminal hairs on the scalp of male participants compared to a placebo after 6 months of use.

This study found that the GhDET2 gene plays a crucial role in cotton fiber initiation and elongation, suggesting that modifying brassinosteroid biosynthesis may enhance fiber quality or yield.

This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.

This conference proceedings compilation from Prague covers global trends, problems, and solutions in science, engineering, and technology, but reports no new clinical results.

This article is an abstract header with author credentials and reports no study findings.

In this study, TASP0382088 showed potent selective inhibition of the ALK5 receptor, significantly reducing Smad2 phosphorylation in mouse skin following topical application.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

This study found that overexpression of the transcription factor Tcf3 accelerates keratinocyte migration and skin wound healing in mice, highlighting its potential as a therapeutic target for wound repair.

This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.

Activin A speeds up ear hair cell differentiation, while Follistatin slows it down.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.

This case report presents a 2-year-old girl with type B loose anagen syndrome diagnosed through a painless hair pull test, avoiding unnecessary further tests or referrals.

Type I and Type II keratin chains can form heterodimers despite sequence differences.

This case report describes a 32-year-old man who developed SCC of the common bile duct a year after receiving treatment for a malignant proliferating trichilemmal tumour on the scalp.

In this study, researchers identified a specific DNA aptamer, Ap.OR2AT4.17, that effectively prolonged hair growth and increased hair shaft elongation in organ-cultured human hair follicles by targeting the olfactory receptor OR2AT4. This finding suggests the aptamer's potential as a novel therapy for hair loss disorders.

The CWARTS tool is a promising method for assessing warts and could improve treatment and research.

This study found that loss of the Pten gene in Lgr5+ hair follicle stem cells promoted squamous cell carcinoma formation through the Akt/β-catenin signaling pathway.

In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.

In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.

This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.

In this institution-based randomized trial, oral betamethasone mini-pulse therapy for alopecia areata showed a faster therapeutic response compared to oral tofacitinib, as measured by trichoscopic changes and achievement of 50% hair regrowth.

This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.

This study found that at Week 52, baricitinib resulted in significant hair regrowth for many patients with severe alopecia areata, with 41.6% on the higher dose achieving substantial improvement in scalp hair loss, though some may need longer treatment for optimal benefit.

This study documented distinct expression patterns of stem cell markers LGR5 and LGR6 in various human skin tumors, highlighting differences in their potential roles and contributions to tumor development.

This study found that applying 2.5% testosterone gel increased facial terminal hairs in young males with beta-thalassemia major and was well tolerated.