research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
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720-750 / 1000+ results research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research Very-long-chain Acyl-CoA Synthetases
Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
research Role of phosphatidylinositol 3‐kinase signaling pathway in radiation‐induced liver injury
Inhibiting the PI3K/Akt pathway may help prevent radiation-induced liver injury.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Human CD133 + Progenitor Cells Promote the Healing of Diabetic Ischemic Ulcers by Paracrine Stimulation of Angiogenesis and Activation of Wnt Signaling
CD133+ cells help heal diabetic ulcers by promoting blood vessel growth and activating Wnt signaling.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
Hair root sheaths can be used to accurately analyze genetic markers.
research Roles of Type 10 17beta-Hydroxysteroid Dehydrogenase in Intracrinology and Metabolism of Isoleucine and Fatty Acids
This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
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 EdnrB Governs Regenerative Response of Melanocyte Stem Cells by Crosstalk with Wnt Signaling
EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research Neural Wiskott-Aldrich syndrome protein modulates Wnt signaling and is required for hair follicle cycling in mice
N-WASP is essential for normal hair growth in mice.
research 1367 Inhibition of the mitochondrial pyruvate carrier promotes ATF4–dependent stress responsive metabolic rewiring and cell cycle arrest in the human hair follicle
Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research YAP1 promotes adipogenesis by regulating the negative feedback mechanism of the Hippo signaling pathway via LATS2
YAP1 helps fat cell formation by influencing the Hippo pathway.
research Involvement of Activation of Mitogen-Activated Protein Kinase (MAPK)/Extracellular Signal-Regulated Kinase (ERK) Signaling Pathway in Proliferation of Urethral Plate Fibroblasts in Finasteride-Induced Rat Hypospadias
The MAPK/ERK pathway is crucial in controlling cell growth and death in finasteride-induced hypospadias.
research Escin Activates Canonical Wnt/β-Catenin Signaling Pathway by Facilitating the Proteasomal Degradation of Glycogen Synthase Kinase-3β in Cultured Human Dermal Papilla Cells
Escin may help treat hair loss by boosting a specific cell growth pathway.
research Epidermal Differentiation Complex: A Review on Its Epigenetic Regulation and Potential Drug Targets.
Understanding how EDC genes are regulated can help develop better drugs for skin diseases.
research Regulatory Processes of the Canonical Wnt/β-Catenin Pathway and Photobiomodulation in Diabetic Wound Repair
Understanding the Wnt/β-catenin pathway and photobiomodulation could improve diabetic wound healing.
research Identification of transcriptional targets of Wnt/β-catenin signaling in dermal papilla cells of human scalp hair follicles: EP2 is a novel transcriptional target of Wnt3a
Wnt3a activates certain genes in hair follicle cells, including a newly discovered one, EP2, which may affect hair growth.
research Citrullination at the Inflammatory Skin Barrier
A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
research WNT5A drives interleukin-6-dependent epithelial–mesenchymal transition via the JAK/STAT pathway in keloid pathogenesis
WNT5A contributes to keloid scars by promoting cell changes through specific signaling pathways.
research OXI1 kinase is necessary for oxidative burst-mediated signalling in Arabidopsis
OXI1 kinase is essential for plant defense and root hair growth in Arabidopsis.
research 0866 Role of transcriptional elongation in dermal fat development
Nelfb is essential for dermal fat development and survival.
research The Role of EAAT4 in Epidermal Differentiation and Calcium Homeostasis during Aging
EAAT4 decreases with age, harming skin function and calcium balance.
research New fluorogenic probes for neutral and alkaline ceramidases
New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research 0877 Activated wound phenotype and microbial dysbiosis are driven by AhR suppression in hidradenitis suppurativa tunnels
Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
research CRABP2 Promotes the Proliferation of Dermal Papilla Cells via the Wnt/β-Catenin Pathway
CRABP2 helps increase the growth of cells important for hair growth by activating a specific growth pathway.