2022
Application of multiplex amplicon deep-sequencing (MAD-seq) to screen for putative drug resistance markers in the Necator americanus isotype-1 β-tubulin gene
George S, Suwondo P, Akorli J, Otchere J, Harrison LM, Bilguvar K, Knight JR, Humphries D, Wilson MD, Caccone A, Cappello M. Application of multiplex amplicon deep-sequencing (MAD-seq) to screen for putative drug resistance markers in the Necator americanus isotype-1 β-tubulin gene. Scientific Reports 2022, 12: 11459. PMID: 35794459, PMCID: PMC9259660, DOI: 10.1038/s41598-022-15718-1.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPeriodic mass drug administrationHigh-risk groupCross-sectional studyDrug resistance markersMass drug administrationResistance-associated mutationsHookworm Necator americanusPost-treatment samplesIsotype-1 β-tubulin geneHookworm infectionPersistent infectionResistance markersDrug AdministrationNecator americanusInfection statusVeterinary nematodesInfectionMarkersNucleotide polymorphismsSensitive toolBenzimidazole drugsNucleotide alleles
2010
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics 2010, 11: 319-325. PMID: 20082205, DOI: 10.1007/s10048-009-0232-y.Peer-Reviewed Original ResearchConceptsCerebellar hypoplasiaMajority of patientsLow-density lipoprotein receptorConstellation of findingsNon-progressive cerebellar ataxiaDensity lipoprotein receptorAutosomal recessive patternHomozygous deletionNeurological sequelaePontocerebellar atrophyDisequilibrium syndromeTurkish familyCerebellar atrophyNovel homozygous deletionLipoprotein receptorCerebellar ataxiaHypoplasiaMotor developmentMotor disabilityTurkish siblingsRecessive patternVLDLR geneCongenital ataxiaHeterogeneous groupSingle nucleotide polymorphisms