research A temperature-sensitive FERONIA mutant allele that alters root hair growth
A mutant FERONIA gene affects root hair growth at high temperatures.
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research INNOVATIVE APPROACH TO CRC PREVENTION: THE ROLE OF LOW-PENETRATION GENES
Low-penetration genes might help personalize colorectal cancer prevention.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Cyclooxygenase-2 overexpression in the skin of transgenic mice results in suppression of tumor development.
Overexpressing COX-2 in mice skin reduces skin tumor development.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis
AMPK activation may reduce melanoma risk in red-haired individuals.
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 Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Novel Insights into TSC22D Family Genes in Metabolic Diseases and Cancer
TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits
Inherited color dilution in rabbits is linked to DNA methylation changes.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters
The type of tumor suppressor gene lost affects the behavior of skin cancer.
research Siberian cats help in solving part of the mystery surrounding golden cats
The CORIN gene variant causes the golden color in Siberian cats.
research Igf1r signalling acts on the anagen‐to‐catagen transition in the hair cycle
Igf1r helps regulate hair growth cycles.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population
The rs1128977 gene variant may affect cholesterol and body measurements.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome
The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.
research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear
Ptprq has multiple forms that change during inner ear development.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.