research Gene Variant in Amish a Clue to Better Aging
A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
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210-240 / 1000+ results research A novel 22-bp InDel within FGF7 gene is significantly associated with growth traits in goat
A specific gene variation in goats is linked to better growth traits.
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 Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
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 Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
research A genome‐wide association study identified a genetic variant associated with hair thinning in Japanese women
A genetic variant linked to hair thinning in Japanese women was found.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases
Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
research A functional polymorphism in interleukin-1α (IL1A) gene is associated with risk of alopecia areata in Chinese populations
A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
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 Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
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 Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat
A new gene mutation causes long hair in some Maine Coon cats.
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 TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Increased PHGDH expression promotes aberrant melanin accumulation
Higher PHGDH levels cause unusual melanin buildup in hair follicles.