research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
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research Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study
Identified genes linked to male-pattern baldness may help develop new treatments.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research Dissection of genetic variation and evidence for pleiotropy in male pattern baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research 644 Tumor cell adhesion as a risk factor for SLN metastasis and predictor of disease recurrence in primary cutaneous melanoma
Tumor cell adhesion is linked to higher risk of SLN metastasis and melanoma recurrence, and a model including these factors predicts these outcomes better than one with just clinical data.
research Molecular heterogeneity of quiescent melanocyte stem cells revealed by single‐cell RNA ‐sequencing
Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia.
Genetic variants in specific genes cause a type of hair loss.
research RETRACTED: Genetic causality and metabolite pathway identifying the relationship of blood metabolites and psoriasis
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research COVID-19 Severity and Androgen Receptor Polymorphism
Men with more CAG repeats in the androgen receptor gene and lower testosterone levels may experience more severe COVID-19.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Clinical characterization of men with long QT syndrome and torsades de pointes associated with hypogonadism: A review and pharmacovigilance study
Low testosterone in men is a risk factor for a specific heart rhythm issue, and testosterone treatment may help prevent it.
research Serum interleukin-37 and its gene polymorphism (rs3811047) in Egyptian patients with alopecia areata
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Association between epidermal growth factor and epidermal growth factor receptor gene polymorphisms and susceptibility to alopecia areata in Korean population
Certain gene variations might increase the risk of a hair loss condition in Koreans.
research Genetics of Androgenetic Alopecia
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research In silico analysis of gene expression data from bald frontal and haired occipital scalp to identify candidate genes in male androgenetic alopecia
Found 32 genes linked to male baldness, affecting hair growth and stress-related pathways.
research The androgen receptor gene polyglycine repeat polymorphism is associated with memory performance in healthy Chinese individuals
Certain gene variations are linked to better memory in healthy Chinese women.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
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 Association between genetically predicted rheumatoid arthritis and alopecia areata: a two-sample Mendelian randomization study
People with rheumatoid arthritis have a higher risk of developing alopecia areata.
research Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness
Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.