research Role of FGFR2-Signaling in the Pathogenesis of Acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
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research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Fidelity of the Human Mitochondrial DNA Polymerase
Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
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 Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research From Structural Resilience to Cell Specification: Intermediate Filaments as Regulators of Cell Fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research The Interplay of Oxidative Stress and Immune Dysfunction in Hashimoto’s Thyroiditis and Polycystic Ovary Syndrome: A Comprehensive Review
Oxidative stress and immune dysfunction are linked to both Hashimoto's thyroiditis and polycystic ovary syndrome, with diet and specific treatments important for managing these conditions.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Relaxers Damage Hair: Evidence from Amino Acid Analysis
Hair relaxers are linked to reduced cystine levels and potential hair damage.
research Treatment of Monilethrix with Oral Minoxidil
Oral minoxidil shows promise in treating monilethrix-related hair loss.
research Endoplasmic Reticulum Stress at the Crossroads of Progeria and Atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research Low-Level Laser Therapy for the Treatment of Male and Female-Pattern Hair Loss: A Review of Literature
Low-level laser therapy helps hair growth and reduces hair loss with few side effects.
research Irreversible And Severe Alopecia Following Docetaxel Or Paclitaxel Cytotoxic Therapy For Breast Cancer
Docetaxel and paclitaxel for breast cancer can cause permanent, severe hair loss.
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 Development of Pigmented Reconstructed Human Epidermis Model Containing Human Melanoblasts from Keratinocyte Culture
The created skin model with melanoblasts improves the study of skin color and offers an alternative to animal testing.
research Behavior of the Two Circulating Androgens Testosterone and DHEA and Their Main Intracellular Metabolites in an Androgen-Sensitive Sebocyte Cell Line
Testosterone affects androgen receptors and lipid storage in cells, while DHEA does not convert to testosterone or affect these receptors in the same way.
research Antiaging Effect of Pleurotus Cornucopiae Extracts
Golden oyster mushroom extract may protect skin cells from aging by its antioxidant properties.
research A Cell Polarity Protein, aPKCλ, Is Essential for Maintaining Hair Follicle Stem Cell Quiescence and Hair Follicle Regeneration
The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
research Keratins in Health and Cancer: More Than Mere Epithelial Cell Markers
Keratins help protect cells, aid in cancer diagnosis, and influence cancer behavior and treatment.
research The PDGF/PDGFR Pathway as a Drug Target
The PDGF/PDGFR pathway is a potential drug target with mixed success in treating various diseases, including some cancers and fibrosis.
research Ectopic Expression of the Nude Gene Induces Hyperproliferation and Defects in Differentiation: Implications for the Self-Renewal of Cutaneous Epithelia
The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
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 De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.