research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
Search
for
Sort by
Research
90-120 / 1000+ results
research Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride
Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
research 766 H3K9me3 methyltransferase SETDB1 controls retrotransposon silencing, DNA methylation, constitutive heterochromatin maintenance and 3D-chromatin structure in epidermal keratinocytes
SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
research R-Spondin-1 Level in Different Dermatoses: A Comprehensive Review
R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research 17β-Estradiol Increases APE1/Ref-1 Secretion in Vascular Endothelial Cells and Ovariectomized Mice: Involvement of Calcium-Dependent Exosome Pathway
17β-estradiol boosts APE1/Ref-1 secretion in cells and mice via a calcium-dependent pathway.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research 5α-Reductase underscores the development of pectoral fin breeding tubercles in zebrafish
The development of breeding tubercles in male zebrafish relies on a specific enzyme that processes hormones.
research Structure and hair follicle-specific expression of genes encoding the rat high sulfur protein B2 family
The B2 genes are crucial for hair growth in rats.
research Identification of Anabolic Selective Androgen Receptor Modulators with Reduced Activities in Reproductive Tissues and Sebaceous Glands
Two new compounds were found to build bone and muscle without affecting reproductive organs and skin oil glands.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Epigenetic regulation of 5α reductase-1 underlies adaptive plasticity of reproductive function and pubertal timing
Environmental factors affect reproductive traits by altering the SRD5A1 gene.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research 1331 Glutathione (GSH) distribution by quantitative MALDI imaging in reconstructed human skin upon activation of GSH biosynthesis by Nrf2 pathway activator
Resveratrol activates the Nrf2 pathway in human skin, significantly increasing the production and distribution of the antioxidant glutathione.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Functional mapping of the mouse hairless gene promoter region
Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
research Differential expression of steroid 5α-reductase isozymes and association with disease severity and angiogenic genes predict their biological role in prostate cancer
SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Novel recombinant R-spondin1 promotes hair regeneration by targeting the Wnt/β-catenin signaling pathway
rRSPO1 protein boosts hair growth by activating a key signaling pathway.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
research Corticotropin-releasing hormone: An autocrine hormone that promotes lipogenesis in human sebocytes
CRH promotes fat production in skin cells, affecting conditions like acne.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa
Scalp hair follicle cells help protect and heal skin in certain skin conditions.
research Human Osteoblast-Like Cells Express Predominantly Steroid 5α-Reductase Type 1
Human bone cells mainly produce a type 1 enzyme that may help regulate bone health.