research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
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research Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
research Phosphatidylinositol-Specific Phospholipase C2 Functions in Auxin-Modulated Root Development
A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
research Skin Diseases Associated With Hepatitis C Virus: Facts and Controversies
Hepatitis C virus can cause skin diseases and dermatologists play a crucial role in identifying these conditions.
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 Possible Therapeutic Effects of Ozone Mixture on Hypoxia in Tumor Development
Ozone therapy might improve cancer treatment and reduce its side effects.
research Common Variants in the Sex Hormone-Binding Globulin Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome
Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Evaluation of Androgen Receptor Gene as a Candidate Gene in Female Androgenetic Alopecia
AR gene not major factor in female hair loss; different from male hair loss.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Investigation of Four Novel Male Androgenetic Alopecia Susceptibility Loci: No Association with Female Pattern Hair Loss
No link found between new male baldness genes and female hair loss.
research From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Increased Frequency of the DI Genotype of the Angiotensin-I Converting Enzyme and Association of the II Genotype with Insulin Resistance in Polycystic Ovary Syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
research Androgenic Alopecia Is Associated With Less Dietary Soy, Higher Blood Vanadium, and rs1160312 Polymorphism in Taiwanese Communities
Men with more vanadium in their blood and who drink less soy milk are more likely to have hair loss.
research Branching of Spiral Ganglion Neurites Induced by Focal Application of Fibroblast Growth Factor-1
FGF-1 causes spiral ganglion neurites to branch more.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Interaction Between Estrogens and Androgen Receptor Genes Microsatellites, Prostate-Specific Antigen, and Androgen Receptor Expressions in Breast Cancer
Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
research Darier Sign: A Historical Note
Dermatologists diagnose and manage melanoma more effectively than general practitioners.
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 Abstracts
Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research The Effects of Low-Dose Radiation Therapy in Patients With Mild-to-Moderate Alzheimer's Dementia: An Interim Analysis of a Pilot Study
Low-dose radiation therapy may improve brain function in some Alzheimer's patients and is generally well-tolerated.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
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.