Tag: Genetics
Novel Borrelia burgdorferi Sensu Lato Genospecies ID’d
Species causes Lyme borreliosis in the United States; identified in six patients since 2012
Vibratory Urticaria Linked to Missense Mutation in ADGRE2
Destabilizes an autoinhibitory subunit interaction, resulting in mast cell sensitization to degranulation
Blood Test May Help Guide Appropriateness of Antibiotic Rx
Still in development, but doctors' office screening method could curb overprescribing
CDX2-Negative Colon Cancer May Need More Tx Post Surgery
Patients with CDX2-negative tumors more likely to benefit from chemo in addition to surgery
Mutations in TUBB8 Linked to Form of Female Infertility
Screening could spare these women unnecessary treatment, researchers say
Earlier AMD Onset With Rare Genetic Variants
Patients carrying rare genetic variants have higher prevalence of a positive family history
KRAS, BRAF V600E Mutations Impact Survival in Colon Cancer
Mutations linked to shorter survival in patients with microsatellite-stable tumors
Researchers ID Three New Glaucoma-Related Genes
Variations in FOXC1, TXNRD2, and ATXN2 associated with primary open angle glaucoma
Inherited Mutations in 18 Percent With Ovarian Cancer
Mutations seen in BRCA1/2, DNA mismatch repair genes, other suspected/established risk genes
Role of Pathogenic Variants in Arrhythmia Genes Unclear
Putatively pathogenic genetic variants not linked to abnormal phenotype in unselected population
