Microsatellite Repeats

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  Subject Areas on Research

  • A Bayesian Approach to Inferring Rates of Selfing and Locus-Specific Mutation. 
  • A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis. 
  • A formalin-fixed paraffin-embedded (FFPE)-based prognostic signature to predict metastasis in clinically low risk stage I/II microsatellite stable colorectal cancer. 
  • A genetic map in the Mimulus guttatus species complex reveals transmission ratio distortion due to heterospecific interactions. 
  • A genome-wide linkage analysis of dementia in the Amish. 
  • A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p. 
  • A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. 
  • A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. 
  • A second major histocompatibility complex susceptibility locus for multiple sclerosis. 
  • A second-generation genomic screen for multiple sclerosis. 
  • Abundant raw material for cis-regulatory evolution in humans. 
  • Age at maturity in wild baboons: genetic, environmental and demographic influences. 
  • Age-severity relationships in families linked to FCD2 with retroillumination photography. 
  • Allele loss on chromosome 1p36 in epithelial ovarian cancers. 
  • Allelotype analysis of uterine leiomyoma: localization of a potential tumor suppressor gene to a 4-cM region of chromosome 7q. 
  • Analysis of microsatellite mutations in the mitochondrial DNA of Saccharomyces cerevisiae. 
  • Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes. 
  • Asexual reproduction in a close relative of Arabidopsis: a genetic investigation of apomixis in Boechera (Brassicaceae). 
  • Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. 
  • Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. 
  • CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 
  • Caenorhabditis elegans DNA mismatch repair gene msh-2 is required for microsatellite stability and maintenance of genome integrity. 
  • Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. 
  • Characterization of sporadic colon cancer by patterns of genomic instability. 
  • Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis. 
  • Chromosome 3 analysis of uveal melanoma using fine-needle aspiration biopsy at the time of plaque radiotherapy in 140 consecutive cases. 
  • Chromosome 3 analysis of uveal melanoma using fine-needle aspiration biopsy at the time of plaque radiotherapy in 140 consecutive cases: the Deborah Iverson, MD, Lectureship. 
  • Chromosome rearrangements via template switching between diverged repeated sequences. 
  • Clinical manifestations of new versus recrudescent malaria infections following anti-malarial drug treatment. 
  • Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. 
  • Coexistence of macular corneal dystrophy types I and II in a single sibship. 
  • Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish. 
  • Comparative population structure of two deep-sea hydrothermal-vent-associated decapods (Chorocaris sp. 2 and Munidopsis lauensis) from southwestern Pacific back-arc basins. 
  • Comparison of molecular markers in a cohort of patients with chronic myeloproliferative disorders. 
  • Complete genomic screen in Parkinson disease: evidence for multiple genes. 
  • Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 
  • Cross-species microsatellite markers for elucidating population genetic structure in Arabidopsis and Arabis (Brassicaeae). 
  • Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. 
  • Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. 
  • Destabilization of yeast micro- and minisatellite DNA sequences by mutations affecting a nuclease involved in Okazaki fragment processing (rad27) and DNA polymerase delta (pol3-t). 
  • Detailed molecular analysis of 1p36 in neuroblastoma. 
  • Detection of proximal colorectal cancers through analysis of faecal DNA. 
  • Distal nephron renal tumors: microsatellite allelotype. 
  • Dynamics of microsatellite divergence under stepwise mutation and proportional slippage/point mutation models. 
  • Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. 
  • Epigenetic inactivation of RUNX3 in microsatellite unstable sporadic colon cancers. 
  • Epstein-Barr virus in gastric adenocarcinomas: association with ethnicity and CDKN2A promoter methylation. 
  • Estimating seed and pollen movement in a monoecious plant: a hierarchical Bayesian approach integrating genetic and ecological data. 
  • Evaluation of microsatellite instability, hMLH1 expression and hMLH1 promoter hypermethylation in defining the MSI phenotype of colorectal cancer. 
  • Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation? 
  • Evidence for multiple loci from a genome scan of autism kindreds. 
  • Evidence that a locus for familial high myopia maps to chromosome 18p. 
  • Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy. 
  • Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain. 
  • Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs. 
  • Favorable survival associated with microsatellite instability in endometrioid endometrial cancers. 
  • Fine localization of the CMT4A locus using a PAC contig and haplotype analysis. 
  • Fine mapping of Wilms' tumors with 16q loss of heterozygosity localizes the putative tumor suppressor gene to a region of 6.7 megabases. 
  • Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity. 
  • Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 
  • Frequent inactivation of PTEN by promoter hypermethylation in microsatellite instability-high sporadic colorectal cancers. 
  • Frequent loss of heterozygosity on chromosome arm 18q in squamous cell carcinomas. Identification of 2 regions of loss--18q11.1-q12.3 and 18q21.1-q23. 
  • Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. 
  • Functional repeats (TGYCC)n in the p53-inducible gene 3 (PIG3) promoter and susceptibility to squamous cell carcinoma of the head and neck. 
  • Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 
  • Further exclusion of FSHD1B from the telomeric region of 10q. 
  • Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dioxygenases control glucosinolate biosynthesis in Arabidopsis. 
  • Gene expression analysis of tumor infiltrating lymphocyte markers in endometrial cancers indicates no significant increases in those cases with microsatellite instability. 
  • Gene expression profiling of microsatellite unstable and microsatellite stable endometrial cancers indicates distinct pathways of aberrant signaling. 
  • Genetic Evidence of Importation of Drug-Resistant Plasmodium falciparum to Guatemala from the Democratic Republic of the Congo. 
  • Genetic analysis of complex diseases. 
  • Genetic complexity and Parkinson's disease. Deane Laboratory Parkinson Disease Research Group. 
  • Genetic control of microsatellite stability. 
  • Genetic evidence reveals temporal change in hybridization patterns in a wild baboon population. 
  • Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. 
  • Genetic structure and genealogy in the Sphagnum subsecundum complex (Sphagnaceae: Bryophyta). 
  • Genetics of drought adaptation in Arabidopsis thaliana II. QTL analysis of a new mapping population, KAS-1 x TSU-1. 
  • Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. 
  • Genome-wide identity-by-descent sharing among CEPH siblings. 
  • Genome-wide scan for adult onset primary open angle glaucoma. 
  • Genomewide search for type 2 diabetes susceptibility genes in four American populations. 
  • Genomic FHIT analysis in RER+ and RER- adenocarcinomas of the pancreas. 
  • Genomic and molecular profiling predicts response to temozolomide in melanoma. 
  • Genomic screen and follow-up analysis for autistic disorder. 
  • Geographic patterns of microsatellite variation in Boechera stricta, a close relative of Arabidopsis. 
  • Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. 
  • High genetic diversity and population differentiation in Boechera fecunda, a rare relative of Arabidopsis. 
  • High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. 
  • Highly variable sperm precedence in the stalk-eyed fly, Teleopsis dalmanni. 
  • Human disturbance causes the formation of a hybrid swarm between two naturally sympatric fish species. 
  • Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus. 
  • Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 
  • Identification of a novel locus on 2q for autosomal dominant high-grade myopia. 
  • Identification of novel genes in late-onset Alzheimer's disease. 
  • Identification of prohibitin and prohibiton as novel factors binding to the p53 induced gene 3 (PIG3) promoter (TGYCC)(15) motif. 
  • Independent lineages of highly sulfadoxine-resistant Plasmodium falciparum haplotypes, eastern Africa. 
  • Interploidal hybridization and mating patterns in the Sphagnum subsecundum complex. 
  • Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds. 
  • Isolation and characterization of point mutations in mismatch repair genes that destabilize microsatellites in yeast. 
  • Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes. 
  • Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. 
  • Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. 
  • Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. 
  • Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. 
  • Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. 
  • Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. 
  • Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines. 
  • Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. 
  • Loss of heterozygosity at chromosome segment Xq25-26.1 in advanced human ovarian carcinomas. 
  • Loss of p53 in benzene-induced thymic lymphomas in p53+/- mice: evidence of chromosomal recombination. 
  • Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. 
  • Methylator resistance mediated by mismatch repair deficiency in a glioblastoma multiforme xenograft. 
  • Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. 
  • Microgeographic Patterns of Genetic Divergence and Adaptation across Environmental Gradients in Boechera stricta (Brassicaceae). 
  • Microsatellite analysis of childhood brain tumors. 
  • Microsatellite analysis of genetic diversity among clinical and nonclinical Saccharomyces cerevisiae isolates suggests heterozygote advantage in clinical environments. 
  • Microsatellite instability in yeast: dependence on repeat unit size and DNA mismatch repair genes. 
  • Microsatellite instability in yeast: dependence on the length of the microsatellite. 
  • Molecular analysis of gastric cancer identifies subtypes associated with distinct clinical outcomes. 
  • Molecular characterization of the tumor-suppressive function of nischarin in breast cancer. 
  • Morphological and genetic differentiation and reproductive isolation among closely related taxa in the Ipomoea series Batatas. 
  • Multilocus microsatellite genotyping array for investigation of genetic epidemiology of Pneumocystis jirovecii. 
  • Mutagenic processing of ribonucleotides in DNA by yeast topoisomerase I. 
  • Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 
  • Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 
  • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 
  • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 
  • Mutations of the p16 gene product are rare in prostate cancer. 
  • Myocilin polymorphisms and high myopia in subjects of European origin. 
  • Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. 
  • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. 
  • Ninety-six haploid yeast strains with individual disruptions of open reading frames between YOR097C and YOR192C, constructed for the Saccharomyces genome deletion project, have an additional mutation in the mismatch repair gene MSH3. 
  • Nitric oxide synthase 2 promoter polymorphisms and systemic lupus erythematosus in african-americans. 
  • Nitric oxide synthase type 2 promoter polymorphisms, nitric oxide production, and disease severity in Tanzanian children with malaria. 
  • No evidence for maternal-fetal microchimerism in infantile hemangioma: a molecular genetic investigation. 
  • Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. 
  • Ordered-subset analysis of savant skills in autism for 15q11-q13. 
  • Origin and dissemination of Plasmodium falciparum drug-resistance mutations in South America. 
  • Origins, genetic structure, and systematics of the narrow endemic peatmosses (Sphagnum): S. guwassanense and S. triseriporum (Sphagnaceae). 
  • PTEN/MMAC1 mutations in endometrial cancers. 
  • Permanent genetic resources added to Molecular Ecology Resources Database 1 August 2011-30 September 2011. 
  • Persistent genetic instability in cancer cells induced by non-DNA-damaging stress exposures. 
  • Phylogeny and biogeography of the American live oaks (Quercus subsection Virentes): a genomic and population genetics approach. 
  • Plasmodium falciparum sulfadoxine resistance is geographically and genetically clustered within the DR Congo. 
  • Polymerase chain reaction fingerprinting in fungi using single primers specific to minisatellites and simple repetitive DNA sequences: strain variation in Cryptococcus neoformans. 
  • Population genetic structure of Arabidopsis lyrata in Europe. 
  • Precocious osteoarthritis in a family with recurrent COL2A1 mutation. 
  • Primary adenocarcinomas of the lung in nonsmokers show a distinct pattern of allelic imbalance. 
  • Prognostic implications of chromosome 17p deletions in human medulloblastomas. 
  • Prostate cancer susceptibility polymorphism rs2660753 is not associated with invasive ovarian cancer. 
  • Purifying selection, sequence composition, and context-specific indel mutations shape intraspecific variation in a bacterial endosymbiont. 
  • QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. 
  • Racial disparity in the frequency of PTEN mutations, but not microsatellite instability, in advanced endometrial cancers. 
  • Rapid selection of Plasmodium falciparum dihydrofolate reductase mutants by pyrimethamine prophylaxis. 
  • Recent divergence, intercontinental dispersal and shared polymorphism are shaping the genetic structure of amphi-Atlantic peatmoss populations. 
  • Reduced expression of mismatch repair genes measured by multiplex reverse transcription-polymerase chain reaction in human gliomas. 
  • Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. 
  • Regulation of alpha-synuclein expression: implications for Parkinson's disease. 
  • Renovascular disease is associated with low producer genotypes of the anti-inflammatory cytokine interleukin-10. 
  • Replication of the recessive STBMS1 locus but with dominant inheritance. 
  • Return of chloroquine-susceptible falciparum malaria in Malawi was a reexpansion of diverse susceptible parasites. 
  • Risk factors for ovarian cancers with and without microsatellite instability. 
  • Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. 
  • Sequence context of indel mutations and their effect on protein evolution in a bacterial endosymbiont. 
  • Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility. 
  • Significance of cytokine gene polymorphism in renal transplantation. 
  • Small choroidal melanoma with chromosome 3 monosomy on fine-needle aspiration biopsy. 
  • Smelling wrong: hormonal contraception in lemurs alters critical female odour cues. 
  • Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types. 
  • Spatial Genetic Structure of the Abundant and Widespread Peatmoss Sphagnum magellanicum Brid. 
  • Spatial pattern of nucleotide polymorphism indicates molecular adaptation in the bryophyte Sphagnum fimbriatum. 
  • Speciation on a local geographic scale: the evolution of a rare rock outcrop specialist in Mimulus. 
  • Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae. 
  • Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing. 
  • Structural variants in SNCA gene and the implication to synucleinopathies. 
  • The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. 
  • The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 
  • The SHREW1 gene, frequently deleted in oligodendrogliomas, functions to inhibit cell adhesion and migration. 
  • The effects of quantitative fecundity in the haploid stage on reproductive success and diploid fitness in the aquatic peat moss Sphagnum macrophyllum. 
  • The geography of malaria genetics in the Democratic Republic of Congo: A complex and fragmented landscape. 
  • The spatial scale of genetic subdivision in populations of Ifremeria nautilei, a hydrothermal-vent gastropod from the southwest Pacific. 
  • The ties that bind: genetic relatedness predicts the fission and fusion of social groups in wild African elephants. 
  • Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 
  • Variation in efficiency of DNA mismatch repair at different sites in the yeast genome. 
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  Keywords of People

  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Wray, Gregory Allan, Professor of Biology, Evolutionary Anthropology
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology