Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.

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

This study found that laminin-511 is crucial for hair morphogenesis in mice, as it influences primary cilia formation and dermal papilla maintenance through noggin and sonic hedgehog signaling.

This study suggests that BLMP-1 is important for timely molting and oscillatory gene expression in C. elegans, indicating a potentially conserved mechanism for rhythmic skin regeneration.

This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.

This study found that disrupting Lm332 expression in mice changes keratinocyte genetic expression, alters cell shape, and disrupts epidermal homeostasis, despite some compensatory anchorage by hair follicle basal cells.

This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.

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 found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.

This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.

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

This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.

This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.

This study found that overexpression of the lncRNA AL136131.3 may inhibit hair shaft growth and promote hair follicle apoptosis in androgenetic alopecia by influencing key metabolic pathways.

This study found that Bnip3L and caspase-12 were differentially expressed during the first catagen stage of mouse hair follicle development under normal physiological conditions.

This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.

This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.

This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.

This study found that lncRNA-599554 contributes to the inductive ability of dermal papilla cells in cashmere goats by sponging miR-15a-5p, promoting Wnt3a expression, and potentially influencing hair follicle regeneration.

This study identified specific lncRNAs and mRNAs differentially expressed in miniaturized follicles compared to normal follicles in patients with androgenetic alopecia, with AL136131.3 potentially inhibiting hair growth and accelerating follicle transition to catagen through effects on glycolysis-related genes.

This study found that lncRNA RP11-818024.3 transfection promoted hair growth in AGA mice and increased cellular proliferation in vitro, potentially involving the FGF2 and PI3K-Akt pathways.

This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.

In this study, BLIMP1 was found to function in terminally differentiated epidermal cells to maintain homeostasis, rather than defining a sebocyte progenitor population.

This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.

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 that in Lichen Planopilaris, the Microbacteriaceae family was negatively correlated with IL-23 expression, suggesting a role in the disease's inflammation and microbiota composition.

This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.