research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
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research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Concerted gene duplications in the two keratin gene families
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Supplementary Material for: Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss in a Han Chinese Population
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
research Oxytocin receptor expression in hair follicle stem cells of valproic acid-induced rat model of autism: Insights for autism spectrum disorder
Oxytocin receptor changes in hair cells may help identify autism, especially in males.
research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
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 No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Pilot study: genetic distribution of AR, FGF5, SULT1A1 and CYP3A5 polymorphisms in male Mexican population with androgenetic alopecia.
Certain genetic variations are linked to hair loss in Mexican men.
research EDA2R Is Associated with Androgenetic Alopecia
EDA2R gene linked to hair loss.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research OR2AT4, an Ectopic Olfactory Receptor, Suppresses Oxidative Stress-Induced Senescence in Human Keratinocytes
OR2AT4 helps reduce aging and cell damage in human skin cells.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease
Basal cell carcinomas need extra mutations to grow from small to large tumors.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome
Genetic risk factors for Polycystic Ovary Syndrome can affect men too, not just women.
research Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Faculty Opinions recommendation of Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Six new risk spots for early hair loss were found, which also link to Parkinson's disease and lower fertility. Two genes, FOXA2 and HDAC4, could be new treatment targets. Hair loss might also be connected to heart disease, metabolic syndrome, and prostate cancer.
research Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions
The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Runx1 Role in Epithelial and Cancer Cell Proliferation Implicates Lipid Metabolism and Scd1 and Soat1 Activity
Runx1 controls fat-related genes important for normal and cancer cell growth, affecting skin and hair cell behavior.
research Research Snippets
New hair regrowth model proposed, imiquimod found to kill skin cancer cells, T-cadherin loss linked to invasive skin cancer, no clear gene link to skin cancer after transplant, and study on children's hair loss shows male dominance and genetic ties.
research Utilizing functional genomics approaches to characterize risk genes in alopecia areata
Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.
research A novel derivative of doxorubicin, AD198, inhibits canine transitional cell carcinoma and osteosarcoma cells in vitro
AD198 is more effective than doxorubicin in stopping certain dog cancer cells.