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.
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60-90 / 290 results research Review: Evolution And Diversification Of Corneous Beta-Proteins, The Characteristic Epidermal Proteins Of Reptiles And Birds
Corneous beta-proteins evolved uniquely in reptiles and birds, forming scales, claws, beaks, and feathers.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Tumor Necrosis Factor-Alpha and Polycystic Ovarian Syndrome: A Clinical, Biochemical, and Molecular Genetic Study
High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
research Co-Expression Pattern of Artemis Serine 516 Phosphorylation with Indicators in Differentiation, Proliferation, and Apoptosis of Human Anagen Hair Follicles: An Immunofluorescence Double-Staining Study
Artemis protein may help control hair growth and health by influencing cell processes.
research Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia
Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
research Novel Insights Into the Molecular Mechanisms Underlying Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Analysis of 1,25-Dihydroxyvitamin D3 Receptors in Basal Cell Carcinomas
Basal cell carcinomas have much higher levels of Vitamin D3 receptors compared to healthy skin.
research Pathogenesis and Clinical Features of Alopecia in Epidermolysis Bullosa: A Systematic Review
Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
research A Pair of Transmembrane Receptors Essential for the Retention and Pigmentation of Hair
Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
research The Catalog of Human Hair Keratins
Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.
research Stabilization of Epithelial Beta-Catenin Compromises Mammary Cell Fate Acquisition and Branching Morphogenesis
Too much β-catenin activity can mess up the development of mammary glands and make them more like hair follicles.
research Glucocorticoid and Sex Hormone Receptors: Clinical Implications and Therapeutic Relevance
Glucocorticoids and sex hormones affect skin health, with potential for targeted treatments to minimize side effects and treat skin conditions.
research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Expression of Foxi3 Is Regulated by Ectodysplasin in Skin Appendage Placodes
Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
research MOF-Mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions by Controlling Gene Promoters
MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
research Activation of Polyamine Catabolism Profoundly Alters Tissue Polyamine Pools and Affects Hair Growth and Female Fertility in Transgenic Mice Overexpressing Spermidine/Spermine N1-Acetyltransferase
Overexpressing a specific enzyme in mice causes hair loss and female infertility.
research WNT Signaling in the Control of Hair Growth and Structure
The research shows that a gene called Wnt3 affects hair growth and structure, causing short hair and balding when overactive.
research Androgens and Ovarian Function: Translation from Basic Discovery Research to Clinical Impact
Androgens are important for female fertility and could help in IVF treatment, but also play a role in causing PCOS.
research Neurosteroidogenesis Today: Novel Targets for Neuroactive Steroid Synthesis and Action and Their Relevance for Translational Research
New targets for making and using brain-synthesized steroids could lead to better treatments for brain disorders and alcoholism.
research Generation of Tβ4 Knock-In Cashmere Goat Using CRISPR/Cas9
Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
research Association Analysis of Polymorphisms in Six Keratin Genes with Wool Traits in Sheep
Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research CRISPR/Cas9-Mediated Loss of FGF5 Function Increases Wool Staple Length in Sheep
Disabling the FGF5 gene in sheep leads to longer wool.
research Drug Repositioning: Current Approaches and Their Implications in the Precision Medicine Era
Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
research Hairless-Knockout Piglets Generated Using CRISPR/Cas9 Exhibit Abnormalities in Skin and Thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Spontaneous Fertility in a Male Patient with Testotoxicosis Despite Suppression of FSH Levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Inducible Deletion of Epidermal Dicer and Drosha Reveals Multiple Functions for miRNAs in Postnatal Skin
Drosha and Dicer are essential for hair follicle health and preventing DNA damage in skin cells.