Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.

This study reports that Lef1 plays a crucial role in promoting bulge stem cell differentiation towards hair fate by activating β-catenin and downstream signaling pathways during hair follicle development.

This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.

This study found that the protein OsUEV1B is essential for maintaining phosphate balance in rice, with Pi deficiency leading to its inhibition and causing overaccumulation of phosphate in mutants.

Fgfr2b helps maintain healthy skin and prevent cancer.

This study found that subcutaneous injections of basic fibroblast growth factor in neonatal mice delayed the development and hair growth cycles of hair follicles compared to controls.

This study found that deleting Ube2n in adult mouse skin leads to inflammation and other skin changes, and identifies IRAK1/4 as potential treatment targets for inflammatory skin disorders.

This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.

This study diagnosed epidermolysis bullosa in eight calves across four UK farms, characterized by skin lesions and excluding mutations in keratin genes as the cause.

This study found that the co-ablation of C/EBPalpha and C/EBPbeta in adult mouse skin disrupted sebocyte differentiation and epidermal homeostasis, highlighting their critical roles in these processes.

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.

Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

KLHL24-mutant stem cells help understand skin and heart disease.

This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.

This review outlines the genetic basis of GABEB, highlighting reduced type XVII collagen as a distinguishing marker from Herlitz JEB, and discusses potential therapeutic avenues without presenting new results.

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.

This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.

This study found that the protein Formin 2 helps regulate cell-to-cell transport in thale cress by stabilizing actin filaments at plasmodesmata, with its absence leading to increased permeability and vulnerability to viral infections.

This study found that in mice lacking EGFR, elevated Wnt signaling disrupts hair follicle development by affecting cell proliferation and differentiation, revealing a critical role for EGFR in regulating these processes.

This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.

This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.

This study found that continuous expression of epidermal growth factor in transgenic mice prevented hair follicles from entering the catagen phase, implicating EGF as a crucial regulator in hair cycle progression.

This research suggests that the barley protein RACB supports cell polarity functions rather than interfering with immunity, as it aids nucleus positioning during fungal attack rather than affecting early immune responses.

This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.