research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
Search
for
Sort by
Research
930-960 / 1000+ resultsresearch A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
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 Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research Expression of an Olfactomedin-Related Gene in Rat Hair Follicular Papilla Cells
FP-1 is a key protein in rat hair growth, active only during the growth phase.
research Effect of mesenchymal stem cells on reducing melanin levels in response to UV radiation in male C57BL/6 mice
Mesenchymal stem cells may help reduce melanin in UV-exposed mice.
research Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research 1345 A single-cell RNA map of perinatal developing mouse skin
The research mapped gene activity in developing mouse skin and found key markers for skin cell types and changes from fetal to early postnatal stages.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research The crosstalk between PTEN ‐induced kinase 1‐mediated mitophagy and the inflammasome in the pathogenesis of alopecia areata
Targeting mitophagy may help treat alopecia areata by reducing inflammasome activation.
research Research on Expression of Retinoid-related Orphan Receptor (ROR) in the Skin of Cashmere Goat
RORs may influence cashmere growth cycles.
research Expression pattern of human hair keratin basic 1 (hHbl) in hair follicle and pilomatricoma
hHbl gene is active in hair shaft cells and some pilomatricomas.
research miR-195-5p Regulates Hair Follicle Inductivity of Dermal Papilla Cells by Suppressing Wnt/β-Catenin Activation
miR-195-5p reduces hair growth ability in cells by blocking a specific growth signal.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Repigmentation of Leukotrichia Due to Retrograde Migration of Melanocytes After Noncultured Epidermal Suspension Transplantation
The treatment improved hair color in most vitiligo patients without major side effects.
research Beyond Circadian Rhythm: Melatonin as a Bio-Regulatory Molecule in Skin and Hair Aesthetics
Melatonin protects skin and supports hair growth.
research Reversible Hyperpigmentation: A Diagnostic Dilemma
Vitamin B12 deficiency can cause reversible skin darkening.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Hoxc13 mutant mice lack external hair
Hoxc13 gene is essential for hair, nail, and papilla development.
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.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Complications and Limitations of Melanocyte Transplantation
Melanocyte transplantation can safely restore skin color, especially in stable vitiligo, but must be chosen carefully based on the disease phase.
research Hair follicle-derived melanocyte transplant as a promising treatment strategy for vitiligo
Hair follicle-derived melanocyte transplant could effectively treat vitiligo by restoring skin color.
research ALKBH5-mediated m6A demethylation fuels cutaneous wound re-epithelialization by enhancing PELI2 mRNA stability
ALKBH5 helps wounds heal faster by stabilizing PELI2 mRNA.