research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
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research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research Topical Gene Electrotransfer to the Epidermis of Hairless Guinea Pig by Non-Invasive Multielectrode Array
The method safely and efficiently delivers genes to the skin but may not work for conditions needing high levels of gene products.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
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 Genetic predictors of testosterone and their associations with cardiovascular disease and risk factors: A Mendelian randomization investigation
Testosterone is linked to cardiovascular risk factors and stroke, but its exact role is unclear.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
research Identification and expression of the target gene SLC24A2 of oar-miR-377 and its novel SNPs effects on wool traits in sheep
The TT genotype of a specific SNP in sheep is linked to better wool quality.
research Transcriptome-based Selection and Validation of Optimal House-keeping Genes for Skin Research in Goats (Capra hircus)
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles
Genetic counselors should be culturally skilled and aware of transgender patients' unique health risks and needs.
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 Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Identifying causal genes in alopecia areata using integrative analysis of differential expression and Mendelian randomization
Four genes are linked to alopecia areata, with two increasing risk and two offering protection.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat
Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
research 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
research Dermatological diseases from a genetic perspective
New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
research Deletion of an Enhancer in FGF5 is Associated With Ectopic Expression in Goat Hair Follicles and the Cashmere Growth Phenotype
A genetic variant in goats is linked to cashmere growth.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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 Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research 5α-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia
A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.