research Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles
The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
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research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research A comparative study of materials assembled from recombinant K31 and K81 and extracted human hair keratins
Recombinant keratin materials may better promote skin cell differentiation than natural keratin.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research GTL1 is required for a robust root hair growth response to avoid nutrient overloading
GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Isoginkgetin, a natural biflavonoid from Ginkgo biloba, inhibits inflammatory response in endothelial cells via suppressing NF-κB activation
Isoginkgetin reduces inflammation in cells by blocking NF-κB activation.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research In vitro 3D organotypic hair follicle-model for high-throughput substance testing
The 5050 MHA42MCS45 hydrogel blend is suitable for repairing load-bearing soft tissues.
research Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Editor's evaluation: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Haemostatic and Biocompatibility Evaluation of Alginate-Functionalized Polylactide Composite Containing Zinc Sulphide and Hardystonite
The new composite material is safe and has anticoagulant properties.
research A novel 22-bp InDel within FGF7 gene is significantly associated with growth traits in goat
A specific gene variation in goats is linked to better growth traits.
research Nitrate‐inducible NIGT1 proteins modulate phosphate uptake and starvation signalling via transcriptional regulation of SPX genes
Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
research De novo designed bifunctional proteins for targeted protein degradation
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Design, Synthesis and Evaluation of N13-Substituted Evodiamine Derivatives against Human Cancer Cell Lines
N13-substituted evodiamine derivatives improved anticancer activity and solubility, showing promise for drug development.
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 Engineering a skin-mimicking asymmetric poly(L-lactic acid/gelatin bioscaffold for skin repair
The engineered scaffold shows promise for effective skin repair.
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 Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Alternative synthesis of the anti-baldness compound RU58841
A new, less toxic and more efficient method to create the anti-baldness compound RU58841 was developed in 2014.