research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
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600-630 / 1000+ results research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Primary Involvement of NADPH Oxidase 4 in Hypoxia-Induced Generation of Reactive Oxygen Species in Adipose-Derived Stem Cells
NADPH oxidase 4 is key for stem cell activity and growth under low oxygen.
research Expression and Analysis of TBX3 Gene in the Skin from Three Locations on Dun Mongolian Bider Horse
TBX3 gene affects horse coat color, with higher expression in darker areas.
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.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Diguanoside tetraphosphate (Gp₄G) is an epithelial cell and hair growth regulator.
Gp₄G promotes hair growth and improves skin health.
research 880 Gasdermin A3-mediated cell death causes niche collapse and precocious activation of hair follicle stem cells
Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
research Bone morphogenetic proteins 4 and 2/7 induce osteogenic differentiation of mouse skin derived fibroblast and dermal papilla cells
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Bioinformatic analysis of gene expression data reveals Src family protein tyrosine kinases as key players in androgenetic alopecia
Protein tyrosine kinases are key in male pattern baldness, affecting skin structure, hair growth, and immune responses.
research Enrichment and Characterization of Human Dermal Stem/Progenitor Cells by Intracellular Granularity
Scientists identified a unique type of human skin stem cell that could help with tissue repair.
research IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep
The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women
Certain gene variations may increase the risk of PCOS in South Indian women.
research Sgk3 links growth factor signaling to maintenance of progenitor cells in the hair follicle
Sgk3 is essential for normal hair follicle growth and maintenance.
research The function of BST2 in γδ T Cells, CD8 T Cells, and macrophages in alopecia areata pathogenesis 4231
BST2 is highly expressed in certain immune cells in alopecia areata, suggesting a role in the disease.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research miR-370-3p Inhibited the Proliferation of Sheep Dermal Papilla Cells by Inhibiting the Expression of SMAD4
miR-370-3p slows sheep hair cell growth by blocking SMAD4.
research 516 Functional annotation of genes underlying hair disorders
The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
research Targeting Endogenous Wnt Antagonists for Therapy Development in AGA: a Focus on DKKs and sFRPs
research 744 Role of Sdf1-Cxcr4 signaling in mouse appendage regeneration
Mice without the p21 gene can fully regenerate injured ears due to reduced Sdf1 increase and leukocyte recruitment, suggesting new ways to induce tissue regeneration in mammals.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens
TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
research D2-40 Expression in Primary Scarring and Nonscarring Alopecia
Most people with scarring and nonscarring hair loss show similar D2-40 levels, but some with scarring hair loss have higher levels.