research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
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30 / 592 results research 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 Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
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.
research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research 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 Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
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 Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
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 Novel Splice Site Mutation in LIPH Identified in a Japanese Patient with Autosomal Recessive Woolly Hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Cloning of the Human Phenol Sulfotransferase Gene Family: Three Genes Implicated in the Metabolism of Catecholamines, Thyroid Hormones, and Drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research The Variable Cell
Hairless protein is key for hair growth, cell differences cause gene expression variation, and the N-end rule pathway senses nitric oxide for protein breakdown.
research Antiandrogenic Activity of Riboflavin 5′-Phosphate (FMN) in 22Rv1 and LNCaP Human Prostate Cancer Cell Lines
Riboflavin 5′-phosphate (FMN) shows potential for treating androgen-related conditions but may be limited in treating prostate cancer.
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 Regulation of VDR by ΔNp63α Is Associated with Inhibition of Cell Invasion
ΔNp63α helps control a protein that stops cancer cells from spreading.
research Induction of Versican by Ascorbic Acid 2-Phosphate in Dermal Papilla Cells
Vitamin C derivative increases versican in cells, potentially aiding hair growth.
research The Transcriptional Repressor CDP (Cutl1) Is Essential for Epithelial Cell Differentiation of the Lung and the Hair Follicle
CDP is crucial for lung and hair follicle cell development.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Careless Talk Costs Lives: Fibroblast Growth Factor Receptor Signalling and the Consequences of Pathway Malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
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 Lamins in Development, Tissue Maintenance, and Stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research Primary Generalized Glucocorticoid Resistance And Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research The Activin Binding Proteins Follistatin and Follistatin-Related Protein Are Differentially Regulated In Vitro and During Cutaneous Wound Repair
FLRG and follistatin have different roles in wound healing.
research Recent Progress in Prostaglandin F2α Ethanolamide (Prostamide F2α) Research and Therapeutics
New research on prostamide F2α has led to treatments for glaucoma and eyelash growth and may have more medical uses.
research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching Is an Integrated Measure of Receptor Function
Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Therapeutic Control of Androgen Action
Understanding how androgens work is key for creating new treatments for prostate issues and hair/skin conditions.