research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
Search
for
Sort by
Research
90-120 / 1000+ results 
research Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form
A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
research Divergent neuroactive steroid responses to stress and ethanol in rat and mouse strains: relevance for human studies
Stress and alcohol affect brain chemicals differently in rats, mice, and humans, influenced by genetic differences.
research Proteomic Characterization of Damaged Single Hairs Recovered after an Explosion for Protein-Based Human Identification
Explosions don't stop hair proteins from being used to identify people.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Neuroactive Steroids and Ethanol Exposure: Relevance to Ethanol Sensitivity and Alcohol Use Disorders Risk
Neuroactive steroids may affect the risk and treatment of alcohol use disorders.
research HDL as Therapeutic Tools
Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
research Transcriptome sequencing reveals the key genes associated with hair follicle development in Qianhua Mutton Merino
Key genes like KRT27 and IGF-2 are crucial for hair follicle development in Qianhua Mutton Merino sheep.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research ACE1 rs1799752 polymorphism is not associated with long-COVID symptomatology in previously hospitalized COVID-19 survivors
The ACE1 gene variant doesn't affect long-COVID symptoms.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research A influência do uso de antioxidante tópico no crescimento do cabelo e no estado da pele após depilação química
The gel may help hair regrow faster and improve skin after hair removal.
research Transient CD44 Variant Isoform Expression and Reduction in CD4+/CD25+ Regulatory T Cells in C3H/HeJ Mice with Alopecia Areata
CD44 variant changes start alopecia areata, but don't maintain it.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research The Vitamin D Receptor Is a Wnt Effector that Controls Hair Follicle Differentiation and Specifies Tumor Type in Adult Epidermis
Vitamin D receptor helps control hair growth and could be used to treat certain skin tumors.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Resequencing and Signatures of Selective Scans Point to Candidate Genetic Variants for Hair Length Traits in Long-Haired and Normal-Haired Tianzhu White Yak
The research found specific genes that may cause longer hair in Tianzhu White Yak.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
Certain genes may help Bulgarians live longer.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Tratamiento de la alopecia areata, un recorrido desde las opciones terapéuticas clásicas hasta los nuevos fármacos aparecidos en los últimos años
Alopecia areata is hard to treat, but new targeted therapies show promise.
research Avaliação da qualidade de vida, perda de peso e comorbidades de pacientes submetidos à cirurgia bariátrica
Bariatric surgery significantly reduces weight and improves health and quality of life, but can cause complications like hair loss and nutritional issues.
research Viruses, Variants, and Vaccines: How COVID-19 Has Changed the Way We Look at Skin
COVID-19 and vaccines cause various skin reactions and highlight the need for dermatologists in managing these issues and addressing vaccine distribution disparities.
research Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent HRURF Variant
5% topical minoxidil can significantly improve hair growth in children with Marie Unna hereditary hypotrichosis.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.