Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.

This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.

This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.

This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

This study found that the repressive histone mark H2AK119ub links inhibitory FGF signals with the quiescent state in hair follicle stem cells, revealing a signaling-epigenetic axis crucial for maintaining stem cell quiescence and tissue homeostasis.

In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.

Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.

This study found that overexpression of the anti-apoptotic protein Bcl-2 in mice disrupted cell death during the hair cycle, impairing hair regeneration by delaying anagen entry and hair growth.

This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.

This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.

This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.

This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.

This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.

This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.

This case report describes a girl in China with biotinidase deficiency confirmed by genetic mutations, whose skin and hair symptoms improved with biotin therapy.

This article discusses the functions of the enzyme 17beta-HSD10, including its role in steroid metabolism and potential links to Alzheimer's disease, but reports no new experimental findings.

BTNL2 helps protect hair follicles from immune attacks.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.

This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.

This study suggests that hemoglobin α expression in the epidermis is induced by oxidative stress and may function as an antioxidant, contributing to skin barrier function.