research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
Search
for
Sort by
Research
630-660 / 1000+ results
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
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 Ultrastructural visualization of cross-linked protein features in epidermal appendages
Cross-linked proteins help maintain the structure of hair, feathers, and hagfish teeth.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research Glutamic acid-loaded separable microneedle composite for long-acting hair regeneration treatment
Glutamic acid microneedle patches promote better hair growth than traditional treatments.
research Glia-derived steroids modulate epileptogenesis in a model of temporal lobe epilepsy
Neurosteroids from glia cells help control seizure development in epilepsy.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.
research Cell Type-specific Functions of the Lysosomal Protease Cathepsin L in the Heart
Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
research Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Is There a Place for Local Natural Treatment of Psoriasis?
Propolis and aloe vera ointment effectively treats mild to moderate psoriasis.
research In Vitro Methodologies to Evaluate the Effects of Hair Care Products on Hair Fiber
Different tests are used to see how hair care products affect hair, and choosing the right test is important for accurate results.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Protective effect of conditioner agents on hair treated with oxidative hair dye
Conditioners in hair dye reduce damage and improve combability.
research Hair Protective Effect of Argan Oil (<i>Argania spinosa</i> Kernel Oil) and Cupuassu Butter (<i>Theobroma grandiflorum</i> Seed Butter) Post Treatment with Hair Dye
Argan oil and cupuassu butter can protect hair after dyeing.
research Evaluation of hair damage treated with oxidative hair dye under influence of conditioners agents
Conditioners improved hair protein retention and combing ease, with some providing thermal protection.
research Impact of oxidative hair coloring and bleaching on hair fiber properties
Bleaching damages hair the most, while dyes improve combability but still cause protein loss.
research Trichoscopic Markers and Clinical Response Patterns With Ritlecitinib in Severe Alopecia Areata: 24‐Week Outcomes From a Prospective Real‐World Cohort
Ritlecitinib is effective and safe for treating severe alopecia areata, showing significant hair regrowth and improved mental health.
research Mecanismos e aplicações clínicas das tecnologias de laser e luz na dermatologia moderna
Laser and light technologies are used in dermatology for skin treatments and improving outcomes.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A small multigene hydroxyproline-O-galactosyltransferase family functions in arabinogalactan-protein glycosylation, growth and development in Arabidopsis
Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
research Protein Kinase C Epsilon Signals Ultraviolet Light-induced Cutaneous Damage and Development of Squamous Cell Carcinoma Possibly Through Induction of Specific Cytokines in a Paracrine Mechanism¶
Protein kinase C epsilon may increase skin cancer risk by affecting nearby cells.
research 030 Impaired Glutathione Synthesis in Hair Follicle Stem Cell Niches in Alopecia Areata
Alopecia Areata may involve reduced antioxidant defenses in hair follicles, affecting stem cell function.
research Arginine Transferase Activity In Homogenates From Guinea-Pig Hair Follicles
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.