research The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women
Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
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900-930 / 1000+ results research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Differential Gene Expression Screening Between Black and Gray Hairs Using Subtractive Library and DNA Chip
Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research Male-pattern baldness susceptibility locus at 20p11
Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
research THERAPEUTIC HOTLINE: Genetic variations in the androgen receptor gene and finasteride response in women with androgenetic alopecia mediated by epigenetics
Women with greater androgen sensitivity respond better to finasteride for hair loss.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research First symposium on natural gene therapy of the skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma
Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
research Genetics of Androgenetic Alopecia
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
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.
research Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness
Researchers found 63 genes linked to male-pattern baldness, which could help in understanding its biology and developing new treatments.
research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
A gene mutation causes woolly hair in a Syrian patient.
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research In This Issue
Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Depletion of Gsdma1/2/3 alleviates PMA-induced epidermal hyperplasia by inhibiting the EGFR–Stat3/Akt pathway
Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
research Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.