Association between H2 haplotype of microtubule associated protein tau gene (deletion / insertion) with Alzheimer Disease in Tunisian patients.
Sign Up to like & getrecommendations! Published in 2022 at "Neurological research"
DOI: 10.1080/01616412.2022.2056338
Abstract: It is widely recognized that Alzheimer's disease (AD) is the main cause of dementia in the elderly. AD is typically characterized by the extraneuronal plaque made up essentially of the amyloid β peptide and intraneuronal… read more here.
Keywords: microtubule associated; deletion insertion; tau gene; gene ... See more keywords
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
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DOI: 10.1172/jci.insight.162687
Abstract: Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1. The variant was identified by whole-exome sequencing, and its pathogenicity was… read more here.
Keywords: stargardt disease; disease; deletion insertion; phenocopies stargardt ... See more keywords
Point Deletion or Insertion in CmeR-Box, A2075G Substitution in 23S rRNA, and Presence of erm(B) Are Key Factors of Erythromycin Resistance in Campylobacter jejuni and Campylobacter coli Isolated From Central China
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Microbiology"
DOI: 10.3389/fmicb.2020.00203
Abstract: Campylobacter jejuni and Campylobacter coli are major food-borne pathogens that cause bacterial gastroenteritis in humans, and poultry is considered as their most important reservoir. Macrolides, such as erythromycin, are the first-line choice for treatment of… read more here.
Keywords: campylobacter; cmer box; erythromycin resistance; deletion insertion ... See more keywords