Results 1 to 10 of about 14,132 (209)

Direct PCR‐Based VNTR Analysis of TPO Intron 10 for Rapid Detection of Maternal Cell Contamination in Prenatal Diagnosis [PDF]

Clinical and Translational Science
Maternal cell contamination (MCC) in fetal specimens poses a major risk for misdiagnosis in prenatal genetic testing. Standard variable number tandem repeat (VNTR) analysis of the thyroid peroxidase (TPO) gene intron 10 is informative for MCC detection ...
Phongsathorn Wichian, Apisit Pattrakorn, Supan Fucharoen, Hataichanok Srivorakun, Simaporn Prommetta, Supawadee Yamsri   +5 more
doaj   +5 more sources

Biomarker‐informed characterization of an ABCA7 tandem repeat expansion in a family with early‐onset Alzheimer’s Disease [PDF]

Alzheimers Dement
Abstract Background ATP‐binding cassette transporter A7 (ABCA7) has been genetically implicated in Alzheimer’s Disease (AD). A recent study by De Roeck et al. (2018) suggested a variable number tandem repeat (VNTR) in intron 18 of ABCA7 is a driver of the genetic signal at this locus.
Peña‐Tauber A, Talozzi L, Orias H, Mormino E, Wilson E, Greicius M.   +5 more
europepmc   +2 more sources

In House Rapid, Simple Multiple-Locus Variable-Number Tandem Repeat Analysis (MLVA): A Reliable Tool for Enterobacter hormaechei Genotyping. [PDF]

Microbiologyopen
We developed a new MLVA protocol targeting eight VNTR loci for the rapid and cost‐effective surveillance of Enterobacter hormaechei. Tested on diverse clinical isolates, it showed a discriminatory power comparable to MLST and was able to distinguish some strains within the same sequence type.
Guillermard C, Baron A, Bidet P, La K, Gits-Muselli M, Courroux C, Malaure C, Dortet L, Birgy A, Bonacorsi S.   +9 more
europepmc   +2 more sources

Sex as a modifier of genetic risk for type 1 diabetes. [PDF]

Diabetes Obes Metab
Abstract Sex differences influence the pathogenesis of type 1 diabetes (T1D), yet most genetic studies have treated sex as a control covariate rather than a dynamic effect modifier. Sex influences immune cell behaviour, including CD4+ and CD8+ T cell activation, regulatory T cell stability, B cell autoantibody production, dendritic cell priming and ...
Qu HQ, Hakonarson H.
europepmc   +2 more sources

African‐origin protective haplotype for Alzheimer's disease in APOEε4 carriers [PDF]

Alzheimers Dement
Abstract Background We have reported a statistical interaction between the African ancestry specific A allele at rs10423769 and APOEε4, where the presence of the A allele is associated with a reduction in AD risk up to 75% in APOEε4 homozygotes. The mechanism by which this variant confers protection could provide insights into new therapeutics for ...
Nasciben L, Booven D, Xu W, Wang L, Moura S, Ramirez A, Nuytemans K, Dykxhoorn D, Rajabli F, Scott W, Davis D, Vontell R, McInerney K, Cuccaro M, Byrd G, Haines J, Adams L, Pericak‐Vance M, Young J, Jin F, Griswold A, Vance J.   +21 more
europepmc   +2 more sources

polyGR produced by CASP8 GGGAGA repeat expansion increases phosphorylation of Tau [PDF]

Alzheimers Dement
Abstract Background Alzheimer's disease (AD) affects 6.5 million people in the United States with cases doubling by 2050. The accumulation of intracellular phosphorylated Tau tangles and amyloid beta plaques are pathological hallmarks of AD, however, the cause of these pathologies in most sporadic AD cases (∼95%) remains unclear.
Tomas R, Phuong H, Bell L, Akamese C, Nguyen L.   +4 more
europepmc   +2 more sources

Evaluation of spoligotyping, SNPs and customised MIRU-VNTR combination for genotyping Mycobacterium tuberculosis clinical isolates in Madagascar. [PDF]

PLoS ONE, 2017
Combining different molecular typing methods for Mycobacterium tuberculosis complex (MTBC) can be a powerful tool for molecular epidemiology-based investigation of TB.
Rondroarivelo Rasoahanitralisoa, Niaina Rakotosamimanana, David Stucki, Christophe Sola, Sebastien Gagneux, Voahangy Rasolofo Razanamparany   +5 more
doaj   +1 more source

Development of genotyping method of the glanders causative agent based on multiple locus variable-number tandem repeat analysis

Журнал микробиологии, эпидемиологии и иммунобиологии, 2019
The aim was to develop a short MLVA-typing scheme of the causative agent of glanders and to assess the possibility of its use for differentiation of Burkholderia mallei strains and study their genetic polymorphism.Materials and methods.
O. S. Bondareva, G. A. Tkachenko, M. L. Ledeneva, A. A. Baturin, L. V. Lemasova, I. M. Shpak, A. A. Budchenko   +6 more
doaj   +1 more source

Bacillus anthracis strain differentiation based on SNP and VNTR loci

Вавиловский журнал генетики и селекции, 2022
Bacillus anthracis is the anthrax causative agent. For its epidemiology, it is important not only to identify the etiological agent but also to determine the patterns of its evolution and spread.
E. A. Anisimova, N. A. Fakhrutdinov, D. A. Mirgazov, E. A. Dodonova, I. A. Elizarova, M. E. Gorbunova, N. I. Khammadov, L. I. Zainullin, K. A. Osyanin   +8 more
doaj   +1 more source

Molecular-biological Methods of Research in Laboratory Diagnostics of Leprosy: Epidemiological Analysis, Genetic Determinants of Resistance to Antimicrobial Drugs

Vestnik Dermatologii i Venerologii, 2018
The review of literature presents analysis of the current state of molecular biological methods for research of Mycobacterium leprae. The characteristics and feasibility of application of the methods in use for diagnostics and epidemiological monitoring ...
O. A. Obraztsova
doaj   +1 more source