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.
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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 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 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.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Association Between Angiotensin-Converting Enzyme Gene Insertion Deletion Polymorphism and Androgenetic Alopecia Susceptibility Among Egyptian Patients: A Preliminary Case-Controlled Study
Certain gene variations may increase the risk of hair loss in Egyptians.
research Polycystic Ovary Syndrome: A Complex Condition with Psychological, Reproductive, and Metabolic Manifestations That Impacts Health Across the Lifespan
Polycystic ovary syndrome is a complex condition that affects women's mental, reproductive, and metabolic health throughout their lives.
research Synaptic Processes and Immune-Related Pathways Implicated in Tourette Syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Exome-Wide Age-Of-Onset Analysis Reveals Exonic Variants In ERN1 And SPPL2C Associated With Alzheimer’s Disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.