• Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification. (cdc.gov)
  • OTAEGUI, D. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. (bvsalud.org)
  • If the original theme is indicated as legato, repeat it with staccato articulation. (stringsmagazine.com)
  • FIGURE 20 is a series of triplet arpeggios that employ a repeating roll pattern in the manner of a banjo player. (guitarworld.com)
  • However, technical issues remain for triplet-repeat expansions. (hal.science)
  • For FA, in 96% of affected individuals, the two FXN gene alleles have GAA triplet repeat expansions that silence expression of the gene, preventing enough frataxin protein made for function in the mitochondria. (curefa.org)
  • In one region of the AR gene, a DNA segment known as CAG is repeated multiple times. (medlineplus.gov)
  • In most people, the number of CAG repeats in the AR gene ranges from fewer than 10 to about 36. (medlineplus.gov)
  • Spinal and bulbar muscular atrophy, a disorder of specialized nerve cells that control muscle movement (motor neurons), results from an expansion of the CAG trinucleotide repeat in the AR gene. (medlineplus.gov)
  • TTC triplet in the first intron of the FXN gene, encoding the essential mitochondrial protein frataxin. (frontiersin.org)
  • Histone post-translational modifications near the expanded repeats are consistent with heterochromatin formation and consequent FXN gene silencing. (frontiersin.org)
  • TTC triplet repeat expansion in an intron of the nuclear FXN gene, which encodes the essential mitochondrial protein frataxin ( 1 ). (frontiersin.org)
  • Our genetic code is spelled out along the double helix of our DNA by triplet combinations of four nucleotides labeled A, T, C, and G. At the key place in the FXN gene of a person not affected with the disease, only a dozen or so triplet combinations of the nucleotides GAA would be found. (curefa.org)
  • The two numbers in the genetic test reports refer to the number of GAA triplet repeats on each allele copy of the FXN gene. (curefa.org)
  • In ~4% of people affected with Friedreich's ataxia, the genetic test report includes one allele of the FXN gene with a GAA triplet repeat expansion and the other allele with a single nucleotide change, called a point mutation, or a deletion in the FXN gene. (curefa.org)
  • One region of the FMR1 gene contains a particular DNA segment known as a CGG trinucleotide repeat, so called because this segment of three DNA building blocks (nucleotides) is repeated multiple times within the gene. (medlineplus.gov)
  • A trinucleotide repeat expansion in the FMR1 gene increases a woman's risk of developing a condition called fragile X-associated primary ovarian insufficiency (FXPOI). (medlineplus.gov)
  • In this condition, the CGG trinucleotide repeat in the FMR1 gene is repeated about 55 to 200 times, which is referred to as a premutation. (medlineplus.gov)
  • In addition, the repeats make producing protein from the blueprint more difficult, and consequently, some people with the FMR1 gene premutation have lower than normal amounts of FMRP. (medlineplus.gov)
  • Almost all cases of fragile X syndrome are caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene. (medlineplus.gov)
  • In these cases, CGG is abnormally repeated more than 200 times, which makes this region of the gene unstable. (medlineplus.gov)
  • HD is a devastating disorder always caused by an expanded CAG triplet repeat mutation in the huntingtin gene. (lu.se)
  • Here we present a case of conjoined twins in a triplet pregnancy diagnosed at 13 of weeks gestation. (hindawi.com)
  • This case represents to our knowledge the only MRI images of conjoined twins in a triplet pregnancy and demonstrates how 3D imaging can be used to better counsel patients about management options. (hindawi.com)
  • Conjoined twins within a triplet pregnancy are very rare and a recent review suggested the incidence is less than one in a million deliveries [ 3 ]. (hindawi.com)
  • The purpose of this report is to describe the presentation and management of a dichorionic triplet pregnancy complicated by conjoined twins. (hindawi.com)
  • MRI images of conjoined twins in a triplet pregnancy. (hindawi.com)
  • A review published in 2003 reported thirteen cases of conjoined twins within a triplet pregnancy [ 2 ]. (hindawi.com)
  • I had a D&C for a natural triplet pregnancy on 9/10. (babycenter.com)
  • In animal models, FAN1 prevents somatic expansion of CAG triplet repeats, whereas MMR proteins promote this process. (jefferson.edu)
  • RNA from the expanded repeats is thought to bind and sequester Muscleblind-like proteins, leading to an impaired process of RNA splicing. (emoryhealthsciblog.com)
  • A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins. (le.ac.uk)
  • This CAG segment is called a triplet or trinucleotide repeat. (medlineplus.gov)
  • Also, attention is currently focused on repeating triplet sequences that cause human hereditary neurological diseases. (gf.org)
  • Recent advances in molecular therapies for neurological disease: triplet repeat disorders. (cdc.gov)
  • Researchers believe that a fragment of the androgen receptor protein containing the CAG repeats accumulates within these cells and interferes with normal cell functions. (medlineplus.gov)
  • The classic symptom for myotonic dystrophy is having trouble releasing one's grip on a doorknob, but it is a multi-system disorder, caused by expanded DNA triplet or quadruplet repeats. (emoryhealthsciblog.com)
  • Instead of the typical 10 to 36 repeats, CAG is repeated from 38 to more than 60 times in people with this disorder. (medlineplus.gov)
  • C9orf72 and triplet repeat disorder RNAs: G-quadruplex formation, binding to PRC2 and implications for disease mechanisms. (colorado.edu)
  • To provide the clinical diagnostics community with accurate protocols and measurements for the detection of genetic disorders, we have established a quantitative a quantitative measurement program for trinucleotide repeats associated with human disease. (nist.gov)
  • Although GP60 sequence typing had very low dis- (variable numbers and forms of a repeating sequence of 3 criminatory power for UK C. hominis isolates, our fi ndings nucleotides coding for the amino acid serine) and the hy- are in agreement with previous fi ndings based on multiple pervariable downstream region ( 5 ). (cdc.gov)
  • Although improvements should be made to achieve clinically acceptable accuracy, our study shows that linked-read sequencing and parental haplotype phasing can be successfully used for NIPD of triplet-repeat expansion diseases. (hal.science)
  • To understand the molecular basis of these opposing effects, we evaluated FAN1 nuclease function on DNA extrahelical extrusions that represent key intermediates in triplet repeat expansion. (jefferson.edu)
  • These results provide a mechanistic basis for the role of FAN1 in preventing repeat expansion and could explain the antagonistic effects of MMR and FAN1 in disease onset/progression. (jefferson.edu)
  • For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the repeat expansion. (medlineplus.gov)
  • Eric, Dan and I then examined the top-scoring pulse/triplet and autocorr multiplets, looking for RFI that should have been removed by the zone filter. (berkeley.edu)
  • This CGG repeat segment is typically interrupted several times by a different three-base sequence, AGG. (medlineplus.gov)
  • Having AGG scattered among the CGG triplets appears to help stabilize the long repeated segment. (medlineplus.gov)
  • The repeat sizes were verified by DNA sequence analyzes. (nist.gov)
  • This "triplet" algorithm doesn't take much computer time, but it can only detect powerful pulses. (berkeley.edu)
  • Activation of FAN1 in this manner results in DNA cleavage in the vicinity of triplet repeat extrahelical extrusions thereby leading to their removal in human cell extracts. (jefferson.edu)
  • I've been working on playing repeated four-note patterns through different rhythmic ideas. (premierguitar.com)
  • has been defined to convert just a single hexadecimal digit unless it is followed by a repeat count. (perl.org)
  • One amniotic sac contained a single fetus (triplet A) with a CRL of 74 mm and a nuchal translucency of 1.5 mm. (hindawi.com)
  • An abridged version of the repeated triplet ("Peabody" or "Canada") emerged west of the Canadian Rockies about two decades ago. (abcbirds.org)
  • While the traditional pairwise distance can be close between inter-cluster samples lying on the intersection of two subspaces, the wrong assignments can be avoided by the hyper-correlation derived from the proposed triplets due to the complementarity of multiple constraints. (aaai.org)
  • This is immediately repeated with a shimmering triplet violin figure dancing above. (westcorkmusic.ie)
  • The expanded numbers of the GAA triplet repeats confirm the inheritance of Friedreich's ataxia. (curefa.org)
  • Research seems to indicate general correlation between some FA symptoms and the numbers of GAA repeats. (curefa.org)
  • I like the lift this version has with the repeated high a's in the first part, and I thought others might too. (thesession.org)
  • A couple years back, I was inspired to concoct a current Triplets pecking order. (nfl.com)
  • The patient went on to have another scan at 17 weeks and 6 days of gestation, which showed normal anatomy and interval growth of the remaining triplet. (hindawi.com)