research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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90-120 / 1000+ results research Polymorphisms in the Human High Sulfur Hair Keratin-Associated Protein 1, KAP1, Gene Family
Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
research An Update on Alopecia Areata
Alopecia areata is a common autoimmune disease affecting hair follicles, with unclear causes and a need for better treatments.
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 Association Between Interleukin 18 Polymorphisms and Alopecia Areata in Koreans
Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
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 Skin-Specific Regulation of SREBP Processing and Lipid Biosynthesis by Glycerol Kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research Association of Methionine Synthase Gene Polymorphisms With Wool Production and Quality Traits in Chinese Merino Population
The MTR gene affects wool quality and production in Chinese Merino sheep.
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 Vitamin D Receptor Gene Polymorphisms Are Not Associated With Alopecia Areata
Vitamin D receptor gene variations are not linked to alopecia areata.
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 Loss-Of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Androgen Receptor Polymorphism-Dependent Variation in Prostate-Specific Antigen Concentrations of European Men
Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
research Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS
The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
research CTLA4 +49AG (rs231775) And CT60 (rs3087243) Gene Variants Are Not Associated With Alopecia Areata In A Mexican Population From Monterrey, Mexico
CTLA4 gene variants are not linked to alopecia areata in Monterrey's Mexican population.
research Vitamin D Receptor Gene Polymorphisms Taq-1 and Cdx-1 in Female Pattern Hair Loss
Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
research Cardiac Biopsy in Myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Alopecia Areata Is Associated With MICA and an Extended HLA Haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
research A Population Pharmacokinetic Model for Individualized Regimens of Finasteride According to CYP3A5 Genotype and Liver Function
Finasteride dosages should be adjusted based on CYP3A5 genotype and liver function to avoid side effects.
research Analysis of CTLA-4 Gene +49A/G and CT60 A/G Polymorphisms in Alopecia Areata Patients
CT60 polymorphism might increase the risk of Alopecia Areata.
research Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Association of Insulin-Like Growth Factor 2 Apa1 A820G Gene (rs680) Polymorphism with Polycystic Ovarian Syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research Alopecia Areata: A Tissue-Specific Autoimmune Disease of the Hair Follicle
Alopecia areata is an autoimmune condition causing hair loss due to the immune system attacking hair follicles, often influenced by genetics and stress.
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.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Recent Advances in the Pathogenesis of Autoimmune Hair Loss Disease Alopecia Areata
Alopecia areata is caused by immune system attacks on hair follicles, often triggered by viral infections.
research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research The Pathogenesis of Alopecia Areata
Alopecia areata is likely caused by a combination of genetic factors and immune system dysfunction, and may represent different diseases with various causes.
research Regulatory Mutations in TBX3 Disrupt Asymmetric Hair Pigmentation That Underlies Dun Camouflage Color in Horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research The L412F Variant of Toll-Like Receptor 3 Is Associated with Cutaneous Candidiasis, Increased Susceptibility to Cytomegalovirus, and Autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.