research Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
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research Androgen Receptor Gene CAG and GGN Polymorphisms in Infertile Nigerian Men
Certain gene variations are not a major cause of male infertility in Nigerian men.
research Cutaneous Features of Myotonic Dystrophy Types 1 and 2: Implications of Premature Aging and Vitamin D Homeostasis
Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
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 Association of AR rs6152G/A Gene Polymorphism With Susceptibility to Polycystic Ovary Syndrome in Chinese Women
A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
research Progesterone-Independent Neurosteroid Regulation of Alpha2-GABA-A Receptors in the Hippocampus Subfields
Progesterone and its byproducts control a specific receptor in the brain independently of progesterone receptors, affecting conditions related to the menstrual cycle.
research Variant 1859G→A (Arg620Gln) of the Hairless Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Flightless I Exacerbation of Inflammatory Responses Contributes to Increased Colonic Damage in a Mouse Model of Dextran Sulfate Sodium-Induced Ulcerative Colitis
High levels of the protein Flightless I worsen ulcerative colitis symptoms in mice.
research NUDT15 Polymorphism Explains Serious Toxicity to Azathioprine in Indian Patients With Chronic Immune Thrombocytopenia and Autoimmune Hemolytic Anemia: A Case Series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome
Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
research Clinical, Pathological, and Molecular Features of Classical and L-Type Atypical BSE in Goats
Both classical and L-type atypical BSE from cattle can infect goats with different incubation times, and tests can distinguish between the two strains.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Isolation and Molecular Characterization of Malassezia Pachydermatis from a Cutaneous Lesion in a California Sea Lion (Zalophus Californianus)
The yeast found in a sea lion's skin lesion was almost identical to that on healthy skin, suggesting environmental factors may affect fungal growth and the cause of the lesion is unclear.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Are STK11 Polymorphisms a Predictor of the Response to Metformin in Polycystic Ovarian Syndrome?
STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus - Suez Canal Region, Egypt
NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
research Comprehensive Overview of Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is a common condition in women that can cause metabolic, reproductive, and psychological issues, and requires lifestyle changes and medication for management.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Mitochondrial Function in Murine Skin Epithelium Is Crucial for Hair Follicle Morphogenesis and Epithelial-Mesenchymal Interactions
Healthy mitochondria in skin cells are essential for proper hair growth and skin cell interaction in mice.
research Genetic Variants and Lifestyle Factors in Androgenetic Alopecia Patients: A Case-Control Study of Single Nucleotide Polymorphisms and Their Contribution to Baldness Risk
Genetic factors and diet significantly increase the risk of male pattern baldness.
research Hair Follicle-Related MicroRNA-34a Serum Expression and rs2666433A/G Variant in Patients with Alopecia: A Cross-Sectional Analysis
Higher miR-34a levels and the A variant of the MIR-34A gene are linked to increased risk and severity of alopecia areata.
research New Histopathological Findings in Scarring Alopecias
New findings may help diagnose and understand scarring alopecia better.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Membrane Androgen Receptors May Mediate Androgen Reinforcement
Androgen self-administration might be controlled by membrane receptors, not nuclear ones.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Signature Selection Analysis Reveals Candidate Genes Associated With Production Traits in Iranian Sheep Breeds
Certain genes in Iranian sheep are linked to wool production and heat adaptation.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Wound Healing Impairment in Type 2 Diabetes Model of Leptin-Deficient Mice: A Mechanistic Systematic Review
Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
research Hair Microscopy: An Easy Adjunct to Diagnosis of Systemic Diseases in Children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.