Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.

This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.

This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

This study found that protease nexin-1 mRNA is expressed in human dermal papilla cells and is downregulated by dihydrotestosterone in balding scalp, suggesting a role in male-pattern baldness progression.

This study observed that overexpression of Bcl-2 in certain transgenic mice accelerates catagen progression and increases hair follicle apoptosis and alopecia, while Bcl-2 deficient mice show delayed hair growth and pigmentation changes.

In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.

This study identified two key pentapeptide quasi-repeats in human keratin-associated proteins, which are similar to motifs found in sheep wool.

This study presents computational modeling and experimental analysis of the HGT protein KAP8.1, identifying key structural features that may influence hair's response to environmental conditions.

This study found that PBX1 enhances the proliferation and reprogramming of hair follicle mesenchymal stem cells by activating the AKT/GSK3β signaling pathway, promoting NANOG expression, and inhibiting apoptosis.

This article discusses the composition and function of the dermal papilla in hair follicles, focusing on its role in hair shaft generation and suggesting that cell loss in this area may contribute to hair loss.

In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.

This research observed that sheep and rabbit KAP6 genes, expressed in hair follicle cells, have high sequence similarity and indicate conservation due to evolutionary selection pressures.

This study found that in squamous cell carcinomas, the inhibition of the tumor-suppressor function of TAp73β by ΔNp63α occurs through promoter squelching, not direct protein interaction.

In this study, researchers found that overexpression of CRABP2 enhanced the proliferation of dermal papilla cells in Hu sheep through activation of the Wnt/β-catenin pathway, even when the pathway was inhibited.

This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.

This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.

This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.

This study demonstrates that YAP and TAZ are essential for initiating basal and squamous cell carcinomas in mice, and suggests targeting these pathways could be beneficial for treating skin cancers.

In this study, researchers examined a patient with ZMYM2::FGFR1 fusion-positive leukemia, finding that Pemigatinib showed efficacy, while Ponatinib resistance was linked to a specific FGFR1 mutation. Other FGFR inhibitors demonstrated high effectiveness in ex vivo assays.

This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

This study found that TPA induces apoptosis in pig renal epithelial cells by affecting cell cycle proteins, and activated ras can prevent this process.

This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.

In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.

This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.

Keratin-associated proteins are crucial for hair strength and structure.

This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.