Microsatellite repeat instability and neurological disease [PDF]
AbstractOver 20 unstable microsatellite repeats have been identified as the cause of neurological disease in humans. The repeat nucleotide sequences, their location within the genes, the ranges of normal and disease‐causing repeat length and the clinical outcomes differ.
Brouwer, JR (Jaap) +2 more
openaire +3 more sources
Systematic microsatellite repeat expansion cloning and validation [PDF]
Approximately 3% of the human genome is composed of short tandem repeat (STR) DNA sequence known as microsatellites, which can be found in both coding and non-coding regions. When associated with genic regions, expansion of microsatellite repeats beyond a critical threshold causes dozens of neurological repeat expansion disorders.
Kushal J. Rohilla +5 more
openaire +2 more sources
GTn Repeat Microsatellite Instability in Uterine Fibroids [PDF]
Background: Type I collagen is a triple helix structure with two α1 and one α2 chains. Coordinated biosynthesis of α1 and α2 subunits is very important for tissue morphogenesis, growth, and repair. In contrast, abnormal deposition in response to proinflammatory cytokines is associated with organ dysfunction.
Bineta Kénémé +2 more
openaire +4 more sources
Development of microsatellite markers for identifying Brazilian Coffea arabica varieties [PDF]
Microsatellite markers, also known as SSRs (Simple Sequence Repeats), have proved to be excellent tools for identifying variety and determining genetic relationships.
Édila V. de R. Von Pinho +10 more
core +1 more source
Compound Microsatellite Repeats: Practical and Theoretical Features [PDF]
Most linkage and population genetic studies that use microsatellites assume that the polymorphism observed at these loci is due simply to variation in the number of units of a single repeat. Variation is far more complex, however, for the numerous microsatellites that contain interruptions within the repeat or contain more than one type of repeat.
L N, Bull +2 more
openaire +2 more sources
Intragenic tandem repeats in Daphnia magna: structure, function and distribution [PDF]
Background Expressed sequence tag (EST) databases provide a valuable source of genetic data in organisms whose genome sequence information is not yet compiled.
Ebert, Dieter +8 more
core +1 more source
A fast and cost-effective approach to develop and map EST-SSR markers: oak as a case study [PDF]
Background: Expressed Sequence Tags (ESTs) are a source of simple sequence repeats (SSRs) that can be used to develop molecular markers for genetic studies.
Ikaran, Ziortza +75 more
core +1 more source
Characterization of Alu Repeats That Are Associated with Trinucleotide and Tetranucleotide Repeat Microsatellites [PDF]
The association of subclasses of Alu repetitive elements with various classes of trinucleotide and tetranucleotide microsatellites was characterized as a first step toward advancing our understanding of the evolution of microsatellite repeats. In addition, information regarding the association of specific classes of microsatellites with families of Alu
C N, Yandava +7 more
openaire +2 more sources
Frameshift mutations at coding mononucleotide repeat microsatellites in endometrial carcinoma with microsatellite instability [PDF]
Microsatellite instability (MI) is a frequent occurrence in endometrioid carcinoma of the endometrium (EC). Several genes known to contain mononucleotide short tracts in their coding sequences (TGF-beta RII, IGFIIR, BAX, hMSH6, and hMSH3) are likely targets for mutations in these tumors.DNA from 24 patients with EC and MI was extracted from blood and ...
Lluis Catasus +6 more
openaire +3 more sources
Biodiversity of 52 chicken populations assessed by microsatellite typing of DNA pools [PDF]
In a project on the biodiversity of chickens funded by the European Commission (EC), eight laboratories collaborated to assess the genetic variation within and between 52 populations from a wide range of chicken types.
Kari Elo +92 more
core +1 more source

