research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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research Human Hair Keratin-Associated Proteins
Hair keratin-associated proteins are essential for strong hair, with over 80 genes showing specific patterns and variations among people.
research The Emerging Role of Janus Kinase Inhibitors in the Treatment of Autoimmune and Inflammatory Diseases
Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory diseases.
research Hyperandrogenism in Polycystic Ovarian Syndrome and Role of CYP Gene Variants: A Review
Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
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 Hepatotoxicity with Low- and Ultralow-Dose Flutamide: A Surveillance Study on 203 Hyperandrogenic Young Females
Low and ultralow doses of flutamide can cause liver damage in young women with high androgen levels, regardless of dose or birth control use, with higher risk for those with higher BMI and liver enzyme levels before treatment.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Diversity of Trichocyte Keratins and Keratin-Associated Proteins
Hair and wool have diverse keratins and keratin-associated proteins.
research Molecular Basis of Androgen Action on Human Sexual Desire
Testosterone significantly affects sexual desire in both men and women, but its impact on women is more complex and influenced by psychological factors.
research Genome-Wide Association Study for Udder Conformation Traits in Chinese Holstein Cattle
Certain genes affect udder shape in Holstein cows, important for health and milk production.
research Review of Fluconazole Properties and Analytical Methods for Its Determination
The document concludes that validated methods are needed to ensure the quality of fluconazole drugs and that new antifungal medications are necessary due to safety and resistance concerns.
research Androgen Receptor CAG Repeat Length Is Associated With Ovarian Reserve But Not With Ovarian Response
The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
research Narrowband UVB Treatment Induces Expression of WNT7B, WNT10B, and TCF7L2 in Psoriasis Skin
Narrowband UVB treatment increases certain gene expressions in psoriasis skin and improves symptoms.
research Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research The Potential Impact of Melanosomal pH and Metabolism on Melanoma
Melanin may help melanoma cells grow by aiding their metabolism.
research Intra-Host SARS-CoV-2 Single-Nucleotide Variants Emerged During the Early Stage of COVID-19 Pandemic Forecast Population Fixing Mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
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.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Cloning and Expression of Cellular Retinoic Acid Binding Protein I Gene in Inner Mongolian Cashmere Goats
The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
research Enzymes
Enzymes are classified into six types and are essential for many biological processes, with only a few targeted by drugs.
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 Genome-Wide Association Studies for Immunoglobulin Concentrations in Colostrum and Serum in Chinese Holstein
Certain genes influence immunoglobulin levels in Chinese Holstein cows, which can improve calf health.
research Sertolioma in a Canadian Husky: Relationship Between Tumor, Hormones, Neurons, and Skin
Removing a testicular tumor in a dog reduced its aggressive behavior and skin problems.
research 3P's of Valproate: Pharmacokinetic, Pharmacodynamic, and Pharmacogenomic Updates
New information shows Valproate may protect the brain and reduce breathing failure risk but can cause liver damage and other side effects, with genetics affecting dosage needs.
research Quality of Life After Endovascular Repair Versus Open Surgery for Abdominal Aortic Aneurysms
Endovascular repair and open surgery for abdominal aortic aneurysms both result in a temporary decline in physical health, with no significant mental health difference, and a return to near normal health in 90 days.
research Research Snippets from the British Journal of Dermatology: Studies on Hair Growth and Skin Conditions
New hair regrowth model proposed, imiquimod found to kill skin cancer cells, T-cadherin loss linked to invasive skin cancer, no clear gene link to skin cancer after transplant, and study on children's hair loss shows male dominance and genetic ties.
research Supplementary Material for: Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss in a Han Chinese Population
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
research Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
research Application of Multi-Omics Techniques to Androgenetic Alopecia: Current Status and Perspectives
Multi-omics techniques help understand the molecular causes of androgenetic alopecia.