Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

A specific gene mutation causes complete hair loss in an Irish Traveller family.

This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.

Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.

In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.

This study found that the long non-coding RNA lnc056 promotes the proliferation of hair follicle stem cells by upregulating TRIP6 expression through interaction with the transcription factor HNRNPUL1, suggesting a potential target for hair loss treatment.

This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.

This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.

In this study, TC-1 cells, resembling stromal cells formed by epithelial-mesenchymal transition, significantly affected the behavior of normal human keratinocytes, supporting the role of stromal cells in tumor progression.

This study concludes that high skin 5α-reductase activity may contribute to hirsutism, but the specific regulatory mechanisms and genetic factors remain unclear.

TSH influences keratin expression in human hair follicles.

This presentation suggests that the activation of TRPV3 channels by fruit acids and carvacrol contributes to exfoliation and may underlie the skin-resurfacing effects of chemical peels.

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

In this study, researchers observed that oncogenic HrasG12V in single murine epidermal cells leads to an initial increase in progenitor cell renewal, but ultimately results in balanced cell fate choices that limit clone growth.

This study identified a significant genetic association between the TNFα gene and alopecia areata susceptibility in the Jordanian Arab population.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This study suggests that an immune response to trichohyalin and keratin 16 may contribute to the pathogenesis of alopecia areata.

In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.

This study found that activating TRPV4 in the skin of mice induced hair follicle regeneration by promoting anagen transition, suggesting potential treatment strategies for hair loss.

This study found that tildacerfont treatment in males with congenital adrenal hyperplasia reduced androgen levels and improved markers of testicular function, suggesting potential benefits for male reproductive health.

This study found that VR1 activation in human hair follicles inhibited hair growth by suppressing proliferation and promoting apoptosis, suggesting VR1 plays an important role in hair growth regulation.

This study observed that innervation of the mystacial pad in rats by fine-caliber axons is more extensive and complex than previously described, with distinct differences in labeling patterns depending on the tracer and survival time.

This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.

This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.

This study found that the overexpression of the lncRNA HOTTIP in glioma cells increased resistance to the chemotherapy drug temozolomide, suggesting a key role for miR-10b and EMT processes in this resistance.

This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

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