*  Gerhardt, Jeannine
... are caused by a trinucleotide repeat expansion. The mechanism leading to repeat instability is still not known and there is ... Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells. Cell Reports. ... Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science. 2014 Academic Article GET ... Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation. Journal of Cell Biology. ...
  http://vivo.med.cornell.edu/display/cwid-jeg2039
*  Does Genital Herpes Feel Like A Cyst | Herpes Advice
... caused by gene mutations called trinucleotide repeat expansions, in which symptoms appear earlier and more severely from ...
  http://www.wdmac.com/does-genital-herpes-feel-like-a-cyst/
*  Trinucleotide Repeat Expansion | Harvard Catalyst Profiles | Harvard Catalyst
"Trinucleotide Repeat Expansion" by people in Harvard Catalyst Profiles by year, and whether "Trinucleotide Repeat Expansion" ... Trinucleotide Repeats [G02.111.570.080.708.800.500.850]. *Trinucleotide Repeat Expansion [G02.111.570.080.708.800.500.850.200] ... Trinucleotide Repeat Expansion*Trinucleotide Repeat Expansion. *Expansion, Trinucleotide Repeat. *Expansions, Trinucleotide ... Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy. Invest Ophthalmol Vis Sci. ...
  https://connects.catalyst.harvard.edu/Profiles/display/Concept/Trinucleotide%20Repeat%20Expansion
*  Trinucleotide repeat expansion - Wikipedia
Trinucleotide repeat expansion, also known as triplet repeat expansion, is the DNA mutation responsible for causing any type of ... It appears that expansion of these repeats is more common than reduction. Generally, the larger the expansion the more likely ... The number of trinucleotide repeats appears to predict the progression, severity, and age of onset of Huntington's disease and ... Triplet expansion is caused by slippage during DNA replication, also known as "copy choice" DNA replication. Due to the ...
  https://en.wikipedia.org/wiki/Trinucleotide_repeat_expansion
*  Trinucleotide repeat expansion and TCF4 gene expression in Fuchs endothelial corneal dystrophy | IOVS | ARVO Journals
50 repeats, 2) a heterozygous CTG expansion of ,50 repeats, and 3) a homozygous CTG expansion of ,50 repeats. Of the total 387 ... 50 repeats, and 27 (14 males and 13 females, 7.0%) harbored a homozygous CTG expansion of ,50 repeats. TNR expansion determined ... The expansion of a CTG trinucleotide repeat (TNR) in a different intron of transcription factor 4 (TCF4) has commonly been ... Trinucleotide repeat expansion and TCF4 gene expression in Fuchs endothelial corneal dystrophy ...
  http://iovs.arvojournals.org/article.aspx?articleid=2561188
*  Recombination‐induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex | The EMBO Journal
Trinucleotide repeat expansions occur during gene conversion. CAG expansions occur with a high frequency (1/3 of all tract ... Recombination‐induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. Guy‐Franck Richard, ... Ashley CT,Jr and Warren ST (1995) Trinucleotide repeat expansion and human disease. Annu Rev Genet, 29, 703-728. ... Expansions are apparently dependent on the property of the repeat array to form hairpins, since DSB repair of a CAA87 repeat ...
  http://emboj.embopress.org/content/19/10/2381
*  RCA of pHC or pHC120-130 plasmid DNA. (A) Restriction | Open-i
Trinucleotide Repeat Expansion*. Minor. *Bacillus Phages/enzymology. *Cell Line. *Cell-Free System ... Previously, generation of such repeats was hindered by CTG repeat instability in plasmid vectors maintained in Escherichia coli ... Previously, generation of such repeats was hindered by CTG repeat instability in plasmid vectors maintained in Escherichia coli ... We describe conditions for producing uninterrupted expanded CTG repeats consisting of up to 2000 repeats using 29 DNA ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC2275075_gkn025f2&req=4
*  Protocols and Video Articles Authored by Kenneth H. Fischbeck (Translated to Arabic)
One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the ... Expansion of a polyglutamine-encoding trinucleotide CAG repeat in the androgen receptor (AR) to more than 37 repeats is ... is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients ... Therapeutics Development for Triplet Repeat Expansion Diseases Nature Reviews. Genetics. Oct, 2005 , Pubmed ID: 16205715 The ...
  https://www.jove.com/author/Kenneth+H._Fischbeck?language=Arabic
*  Pharmaceuticals | Free Full-Text | Involvement of HDAC1 and HDAC3 in the Pathology of Polyglutamine Disorders: Therapeutic...
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 1993, 4, 221-226. [Google ... Histone deacetylase complexes promote trinucleotide repeat expansions. PLoS Biol. 2012, 10, e1001257. [Google Scholar] [ ... is caused by an unstable CAG repeat expansion in the ataxin-3 (ATXN3) gene leading to an expansion of polyglutamines in the C- ... Disease onset is correlated with CAG repeat length (threshold ~39 repeats, with longer expansions resulting in earlier onsets ...
  http://www.mdpi.com/1424-8247/7/6/634/htm
*  Research Supervisors - School of Biological Sciences - Science
Molecular basis of phenotypic variation; thermal responses in plants; genetic analyis of trinucleotide repeat expansions. +61 3 ...
  https://www.monash.edu/science/future-students/graduate-options/Graduate-research/supervisors/biological
*  Wieben ED[au] - PubMed - NCBI
Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' ... A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. ... Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese. ... in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat ...
  https://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Wieben+ED%5Bau%5D&dispmax=50
*  A Study on Triplet Repeat Expansion Disorders in Western Indian Population | OMICS International
Triplet repeat expansion disorders (TRED) are one of the commonest causes of hereditary neuropathy with thirty different ... Ashley TC Jr, Warren ST (1995) Trinucleotide repeat expansion and human disease. Annu Rev. Genetics 29: 703-728. ... Table 1: Primer sequence and amplicon size in trinucleotide repeat expansion disorder ... A Study on Triplet Repeat Expansion Disorders in Western Indian Population Sheth J1*, Shah S2, Patel H1, Bhavsar R1, Bhatt K1 ...
  https://www.omicsonline.org/open-access/a-study-on-triplet-repeat-expansion-disorders-in-western-indian-population-2161-1041-4-1000141.php?aid=39056
*  Plus it
Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene. Lancet 1999;354:640-3. ... 22 repeats) and VDR An between the two peaks in the bimodal distribution of repeat lengths among controls (18 repeats). In ... The androgen receptor exon 1 trinucleotide repeat does not act as a modifier of the age of presentation in breast cancer. Eur J ... There is a (microsatellite) trinucleotide repeat polymorphism (CAGn) in exon 1 of the gene. This polymorphism affects the ...
  http://cebp.aacrjournals.org/content/16/9/1775
*  Laser microdissection and microsatellite analyses of breast cancer reveal a high degree of tumor heterogeneity -...
Trinucleotide Repeat Expansion/genetics. MESH. Dewey-Dezimal-Klassifikation:. 600 Technik, Medizin, angewandte Wissenschaften ...
  https://epub.uni-regensburg.de/15369/
*  Learn: Genetic Disorders (JR) (by wewovino) - Memorize.com - Remember and Understand
Trinucleotide Repeat Expansion Diseases. Try (trinucleotide) hunting for my fried eggs (X) Syndrome. Inheritance and Defect. ... FMR1, CGG trinucleotide repeat. 2nd most common cause of mental retardation, macroorchidism, long face with large jaw, large ... Huntingin, CHR4, CAG trinucleotide repeat. depression, progressive dementia, choreiform movements, caudate atrophy, decreased ...
  http://memorize.com/genetic-disorders-jr/wewovino
*  Free Medical Flashcards about BF - MM2
Disease pathology e.g. Disorders which show 'anticipation', such as those with trinucleotide repeat expansions ... Triplet repeat expansions lead to what? Instability. Insertions - What are substantial repeat insertions called? Tandem repeats ... Longer/ shorter expansions Positional cloning - What is it? Isolation of a gene by identifying its precise chromosomal location ...
  https://www.studystack.com/flashcard-1231498
*  JoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
The TGC trinucleotide repeat expansion in TCF4 is strongly associated with FECD, and a repeat length ,50 is highly specific for ... A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. ... We tested for an association between an intronic TGC trinucleotide repeat in TCF4 and FECD by determining repeat length in 66 ... p50 TGC repeats, 13 (20%) had 50 repeats, 60 (95%) had 50 TGC repeats identifying FECD in this patient cohort was 79% and 96%, ...
  https://www.jove.com/visualize/abstract/23185296/a-common-trinucleotide-repeat-expansion-within-transcription-factor-4
*  Polyglutamine repeat diseases destroy neurons | UW News
Basically, these trinucleotide repeat expansions are strings of extra nucleotides within proteins.. "We now believe they act by ... more than 20 diseases have been linked to these repeat expansions. Nine have been identified as linked to repeat expansions of ... student at the University of Pennsylvania in 1991 when he identified a mutation known as a trinucleotide repeat expansion and ... His topic is "Deconstructing Polyglutamine Neurodegeneration: A Tale of Two Repeat Diseases." The lecture is free and open to ...
  http://www.washington.edu/news/2004/08/19/polyglutamine-repeat-diseases-destroy-neurons/
*  The contribution of gender differences in motor, behavioral and cognitive features to functional capacity, independence and...
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Snell, R.G.; MacMillan, J ... CAG repeat number governs the development rate of pathology in Huntington's disease ... of the motor and behavioral subscales of the unified Huntington's disease rating scale in Huntington disease gene expansion ...
  https://www.deepdyve.com/lp/elsevier/the-contribution-of-gender-differences-in-motor-behavioral-and-pBtj6Txlmc
*  Publications - Mayo Clinic
Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese. Invest Ophthalmol Vis Sci ... A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. ... Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism. Clin Biochem. 2007 Jun; 40 (9-10):710-7 Epub ... disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions. J Child Neurol ...
  http://www.mayo.edu/research/searchpublications/publications?authid=14143372
*  Cell cycle dependency of Rad52 focus formation in ctf18 | Open-i
Expansion of DNA trinucleotide repeats causes at least 15 hereditary neurological diseases, and these repeats also undergo ... Expansion of DNA trinucleotide repeats causes at least 15 hereditary neurological diseases, and these repeats also undergo ... Since this phenotype is enhanced by an expanded triplet repeat, and since the expanded repeat causes replication stress, we ... Since this phenotype is enhanced by an expanded triplet repeat, and since the expanded repeat causes replication stress, we ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC3037408_pgen.1001298.g006&req=4
*  A new cellular model to follow Friedreich's ataxia development in a time-resolved way | Disease Models & Mechanisms
1997). Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc. Natl. Acad. ... 1996). Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423- ... 1996). The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet ... 2008). The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse ...
  http://dmm.biologists.org/content/8/7/711
*  Genetics of the corneal endothelial dystrophies: an evidence-based review - Aldave - 2013 - Clinical Genetics - Wiley Online...
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. ... concluded that this suggests that FECD is a trinucleotide expansion disease associated with non-coding trinucleotide repeats, ... Wieben and colleagues described an expansion of a non-coding trinucleotide repeat in TCF4 that was strongly associated with ... Sabine Foja, Mirjam Luther, Katrin Hoffmann, Andreas Rupprecht, Claudia Gruenauer-Kloevekorn, CTG18.1 repeat expansion may ...
  http://onlinelibrary.wiley.com/doi/10.1111/cge.12191/full
*  ATXN2 gene - Genetics Home Reference
SCA2 results from a mutation in the ATXN2 gene known as a trinucleotide repeat expansion. This mutation increases the length of ... One region of the ATXN2 gene contains a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of ... Basic Neurochemistry (sixth edition, 1999): Trinucleotide expansion is one of the most important categories of mutation ... the repeated CAG segment in the ATXN2 gene. People with 32 or more repeats CAG repeats in the ATXN2 gene develop SCA2. ...
  https://ghr.nlm.nih.gov/gene/ATXN2