research Minoxidil Sulfotransferase Enzyme (SULT1A1) Genetic Variants Predict Response to Oral Minoxidil Treatment for Female Pattern Hair Loss
Genetic variants affect minoxidil hair loss treatment success.
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research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
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 The VEGF +405 G>C 5' Untranslated Region Polymorphism and Risk of PCOS: A Study in South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research Association of Gly972Arg Variant of Insulin Receptor Substrate-1 and Gly1057Asp Variant of Insulin Receptor Substrate-2 with Polycystic Ovary Syndrome in the Chinese Population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
research Gender Specificity of a Genetic Variant of Androgen Receptor and Risk of Coronary Artery Disease
A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
research Anti-TNF Antibody-Induced Psoriasiform Skin Lesions in Patients with Inflammatory Bowel Disease Are Characterised by Interferon-γ-Expressing Th1 Cells and IL-17A/IL-22-Expressing Th17 Cells and Respond to Anti-IL-12/IL-23 Antibody Treatment
Anti-IL-12/IL-23 antibody therapy effectively treats psoriasiform skin lesions in IBD patients.
research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia Among Women Presenting with Hyperandrogenic Symptoms and Signs
About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
research Phenotypic Profiling of Parents With Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research What Does Acne Genetics Teach Us About Disease Pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research Association Analysis of Estrogen Receptor Beta Gene (ESR2) Polymorphisms with Female Pattern Hair Loss
ESR2 gene variations may be linked to female pattern hair loss.
research Evidence for Two Independent Functional Variants for Androgenetic Alopecia Around the Androgen Receptor Gene
Two gene areas linked to male pattern baldness found, more research needed.
research The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
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 Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene
Researchers found a new mutation causing total hair loss from birth.
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 Investigation of Variants of the Aromatase Gene (CYP19A1) in Female Pattern Hair Loss
No link found between aromatase gene and female hair loss.
research MC4R Variants rs12970134 and rs17782313 Are Associated with Obese Polycystic Ovary Syndrome Patients in the Western Region of Saudi Arabia
Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
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 Longer TA Repeat but Not V89L Polymorphisms in the SRD5A2 Gene May Confer Acne Risk in the Chinese Population
Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
research The Dermatology Consultant: A Retrospective Analysis of Inpatient Dermatology
Dermatologists greatly affect inpatient diagnosis and treatment of skin conditions, especially in spotting infections in patients with weakened immune systems.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research CRISPR/Cas9-Based Targeted Genome Editing for Correction of Recessive Dystrophic Epidermolysis Bullosa Using iPS Cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Downstream Molecular Responses to Volatile Signaling in Roots
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.