research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
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30-60 / 1000+ resultsresearch Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Neuregulin3 Alters Cell Fate in the Epidermis and Mammary Gland
Neuregulin3 affects cell development in the skin and mammary glands.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Matriptase Expression and Zymogen Activation in Human Pilosebaceous Unit
Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
research Cost-Effectively Dissecting the Genetic Architecture of Complex Wool Traits in Rabbits by Low-Coverage Sequencing
Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures During Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Editor's Evaluation: Plant Trans-Golgi Network/Early Endosome pH Regulation Requires Cation Chloride Cotransporter (CCC1)
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
research Flavonoids with Two Hydroxyl Groups in the B-Ring Promote Pigmented Hair Regeneration
Certain flavonoids help grow back colored hair after skin injury.
research Comparison of Comedolytic Effect of Benzoyl Peroxide and Adapalene in Rhino Mice
Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
research MicroRNA-302 Increases Reprogramming Efficiency via Repression of NR2F2
MicroRNA-302 helps improve the conversion of body cells into stem cells by blocking NR2F2.
research Accuracy of Anti-Müllerian Hormone and Total Follicle Count to Diagnose Polycystic Ovary Syndrome in Reproductive Women
AMH is a good marker for diagnosing PCOS, but global standards are needed.
research Ratio of Ovarian Stroma and Total Ovarian Area by Ultrasound in Prediction of Hyperandrogenemia in Reproductive-Aged Thai Women with Polycystic Ovary Syndrome: A Diagnostic Test
Ultrasound measurement of the ovarian stroma to total area ratio is not a reliable single predictor of high male hormone levels in Thai women with PCOS, but works better when combined with clinical signs.
research Roles of MED1 in Quiescence of Hair Follicle Stem Cells and Maintenance of Normal Hair Cycling
MED1 is essential for normal hair growth and maintaining hair follicle stem cells.
research Role of the Wnt Signaling Pathway in Keratoacanthoma
The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
research Morpho-Regulation of Ectodermal Organs
Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
research Hair Coloration by Gene Regulation: Fact or Fiction?
Gene regulation could revolutionize hair color by altering pigmentation from within.
research Cartilage to Bone Transformation During Fracture Healing Is Coordinated by the Invading Vasculature and Induction of the Core Pluripotency Genes
Blood vessels and specific genes help turn cartilage into bone when bones heal.
research Regulatory T Cells: The Many Faces of Foxp3
Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
research Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: An Update
The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
research The Frequency of Metabolic Syndrome Is Higher Among Brazilian Women With PCOS, Menstrual Irregularity, and Hyperandrogenism
Brazilian women with PCOS and both menstrual irregularity and high male hormone levels have a higher chance of having metabolic syndrome.
research Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Friends Turned Foes: Angiogenic Growth Factors Beyond Angiogenesis
Some growth factors, while important for normal body functions, can cause diseases when not regulated properly.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Boosting and Rescuing Epidermal Superior Population from Fresh Keratinocyte Cultures
The method increases stem-like cells for better skin regeneration.
research Early Embryonic Exposure of Freshwater Gastropods to Pharmaceutical 5-Alpha-Reductase Inhibitors Results in a Surprising Open-Coiled 'Banana-Shaped' Shell
Certain drugs change freshwater snail shells to a "banana" shape.
research Association of Gly972Arg Variant of Insulin Receptor Substrate-1 and Gly1057Asp Variant of Insulin Receptor Substrate-2 with Polycystic Ovary Syndrome in the Chinese Population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.