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.
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690-720 / 1000+ results research 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma
Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus
PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.
research Progeny of Lgr5-expressing hair follicle stem cell contributes to papillomavirus-induced tumor development in epidermis
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Relationship Between Male Pattern Baldness and the Risk of Aggressive Prostate Cancer: An Analysis of the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial
Men with baldness at the front and top of their head at age 45 may have a higher risk of aggressive prostate cancer.
research An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy
Gene linked to common hair loss found, may lead to new treatments.
research Improved health-span and lifespan in mtDNA mutator mice treated with the mitochondrially targeted antioxidant SkQ1
SkQ1 antioxidant improved health and lifespan in mice.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
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 Determination of TG5 gene polymorphism and its influence on productivity traits of beef cattle reared in Lithuania
The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study
No clear link between androgen receptor variation and hair loss, but more research needed.
research W locus alleles of the KIT Gene in Turkish Van Cats and Their Association with Certain Phenotypes
Turkish Van cats' genotypes don't affect traits like eye color or hair length.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
Hairless gene not strongly linked to baldness.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
Hair greying is mainly influenced by age, with genetics playing a smaller role.
research Abstracts
Ablative fractional laser treatment nearly matches the gene reduction effects of topical vismodegib in skin cancer.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.