research Alternative Splicing Factor Esrp1 Controls Homeostasis of Skin by Regulating Barrier Formation and Function
Esrp1 is important for skin health by helping form and maintain the skin barrier.
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480-510 / 596 resultsresearch Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research New Aspects of Galectin Functionality in Nuclei of Cultured Bone Marrow Stromal and Epidermal Cells: Biotinylated Galectins as a Tool to Detect Specific Binding Sites
Galectin-1 helps in RNA processing in cell nuclei.
research Molecular Cloning, Characterization, and Expression of Sheep FGF5 Gene
Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
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 Availability of mRNA from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Specific Receptor Detection by a Functional Keratinocyte Growth Factor-Immunoglobulin Chimera
A new protein was made to detect specific skin cell growth receptors and worked in normal skin but not in skin cancer cells.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Dietary Intake in Subjects with Early Psychosis: Is There a Relationship with Clinical Subtype or Antipsychotic Treatment?
People with early psychosis eat more calories, saturated fat, and sugar, and the drug olanzapine may lead to eating even more calories.
research The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report
The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
research Intratumoral De Novo Steroid Synthesis Activates Androgen Receptor in Castration-Resistant Prostate Cancer and Is Upregulated by Treatment with CYP17A1 Inhibitors
Prostate cancer cells can make their own androgens to activate the androgen receptor, and treatments like abiraterone may increase this ability, suggesting new therapies should target the entire steroid-making pathway.
research Structure of Human Type II 5 Alpha-Reductase Gene
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
research Molecular Epidemiology of Hypospadias: Review of Genetic and Environmental Risk Factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Structure of Human Type II 5 Alpha-Reductase Gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Recommendations for Treatment of Nonclassic Congenital Adrenal Hyperplasia: An Update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Nonclassic Adrenal Hyperplasia: Clinical Features, Diagnosis, and Treatment
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Loss of Vascular Endothelial Growth Factor in Human Alopecia Hair Follicles
Hair follicles in people with alopecia have lower levels of a key blood vessel growth protein.
research Characterization of a Partial cDNA for Lysyl Hydroxylase from Human Skin Fibroblasts; Lysyl Hydroxylase mRNAs Are Regulated Differently by Minoxidil Derivatives and Hydralazine
Minoxidil decreases LH expression, while hydralazine has mixed effects on prolyl and lysyl hydroxylase activities.
research Human Type 3 5α-Reductase Is Expressed in Peripheral Tissues at Higher Levels Than Types 1 and 2 and Its Activity Is Potently Inhibited by Finasteride and Dutasteride
Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
research Prevalence of CYP21 Mutations and IRS1 Variant Among Women With Polycystic Ovary Syndrome and Adrenal Androgen Excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Age-Related Hair Changes in Men: Mechanisms and Management of Alopecia and Graying
Men's hair loss is caused by hormones and genes, and can be treated with medication and surgery, while graying is due to aging and has no prevention except dyeing.