research TRP Channels in Skin Biology and Pathophysiology
TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
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research The Role of AUTS2 in Neurodevelopment and Human Evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Quantitative Single-Cell Approaches to Stem Cell Research
New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
research Ancient Genomes Reveal the Evolutionary History and Origin of Cashmere-Producing Goats in China
Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.
research The Proteomic Profile of Hair Damage
Bleaching hair damages protein structure, especially keratin, leading to weakened hair.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
research Dysregulation of Grainyhead-Like 3 Expression Causes Widespread Developmental Defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
research Male Pattern Hair Loss: The Selfless Gene
Male pattern hair loss may have evolved to promote younger fathers for offspring health and survival, encouraging monogamy and paternal nurturing.
research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Baricitinib reduces inflammation and improves cell health in premature aging cells.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes
TRPV3 in skin cells causes inflammation and cell death.
research Challenges in Treatment of Patients With Non-Classic Congenital Adrenal Hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research Intracrine Androgen Biosynthesis, Metabolism, and Action Revisited
The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.
research The Role of Candidate Pharmacogenetic Variants in Determining Valproic Acid Efficacy, Toxicity, and Concentrations in Patients with Epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
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 Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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 IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Lamins in Development, Tissue Maintenance, and Stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
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 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 From Structural Resilience to Cell Specification: Intermediate Filaments as Regulators of Cell Fate
Intermediate filaments are crucial for cell differentiation and stem cell function.