research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
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research iε-(γ-Glutamyl) lysine cross-linkage in citrulline-containing protein fractions from hair
Specific cross-linkages help make hair proteins stable and strong.
research p63 regulates Satb1 to control tissue-specific chromatin remodeling during development of the epidermis
p63 controls Satb1 to help skin develop properly.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Researchers found a gene mutation responsible for a rare hair loss condition.
research Oxidative DNA Damage Accelerates Skin Inflammation in Pristane-Induced Lupus Model
Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Characterization of Recombinant Human Liver Thermolabile Phenol Sulfotransferase with Minoxidil as the Substrate
Both enzyme forms can sulfate minoxidil.
research Zeb2 recruits HDAC–NuRD to inhibit Notch and controls Schwann cell differentiation and remyelination
Zeb2 is crucial for nerve repair by controlling Schwann cell function.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals
Deleting TNFα gene reduces skin cancer risk in certain mice.
research Tumor suppressor activity of ODC antizyme in MEK-driven skin tumorigenesis
Antizyme slows skin tumor growth by reducing cell growth in mice.
research SOX9 as a key regulator of tissue remodelling and epithelial cell fate transitions.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research Intramembrane Proteolysis of Astrotactins
Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
research Autotaxin-LPA signaling contributes to obesity-induced insulin resistance in muscle and impairs mitochondrial metabolism
Blocking the ATX-LPA pathway may improve insulin sensitivity and mitochondrial function in obesity.
research Pyruvate Kinase M2 Promotes Hair Regeneration by Connecting Metabolic and Wnt//β-Catenin Signaling
Pyruvate Kinase M2 helps hair grow by linking energy production and a key hair growth pathway.
research p53 Is a Direct Transcriptional Repressor of Keratin 17: Lessons from a Rat Model of Radiation Dermatitis
The protein p53 directly reduces the production of Keratin 17, a skin and hair protein, in rats with radiation dermatitis.
research NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research XMU-MP-1 induces growth arrest in a model human mini-organ and antagonises cell cycle-dependent paclitaxel cytotoxicity
XMU-MP-1 stops cell growth in a human mini-organ and reduces the effectiveness of the chemotherapy drug paclitaxel.
research 647 Alternative splicing factor Esrp1 controls homeostasis of skins by regulating barrier formation and function
Esrp1 is important for skin health by helping form and maintain the skin barrier.
research Mdm2-p53 Signaling in Tissue Homeostasis and the DNA Damage Response: A Dissertation
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
research Urokinase is a Positive Regulator of Epidermal Proliferation In Vivo
Urokinase, a type of protein, helps skin cells multiply faster, especially in newborn mice.
research Improved health-span and lifespan in mtDNA mutator mice treated with the mitochondrially targeted antioxidant SkQ1
SkQ1 antioxidant improved health and lifespan in mice.
research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research Uncombable hair improved by biotin
Biotin supplements significantly improved a young girl's uncombable hair.
research Antizyme Release Is an Early Event in Ornithine Decarboxylase Induction by Hair Plucking
Hair plucking quickly increases antizyme, reducing a specific enzyme activity in rats.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.