*  Frontiers | DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously | Molecular Biosciences
Applications involving analysis of cell free DNA in maternal DNA for prenatal diagnosis of specific autosomal trisomies are ... Applications of DNA sequencing to diagnosis and therapeutics of cancer are presented. Also discussed are important recent ... Applications of DNA sequencing to diagnosis and therapeutics of cancer are presented. Also discussed are important recent ... diagnostic applications of DNA sequencing in cancer, including analysis of tumor derived cell free DNA and exosomes that are ...
  https://www.frontiersin.org/articles/10.3389/fmolb.2017.00024/full
*  CRHD Connectomic Imaging in Familial & Sporadic Frontotemporal Degeneration - Connectome - Publications
... and an expansion of the GGGGCC hexanucleotide repeat in the non-coding region of chromosome 9 open reading frame 72 has ... Forty-three probands and 10 of their affected relatives with DNA available (total 53 subjects) were shown to carry the ... hexanucleotide repeat expansion. Thirty-six (84%) of the 43 probands had a familial disorder, whereas seven (16%) appeared to ... relatives who have been evaluated at Mayo Clinic Rochester or Mayo Clinic Florida in whom the hexanucleotide repeat expansion ...
  https://www.humanconnectome.org/study/connectomic-imaging-familial-sporadic-frontotemporal-degeneration
*  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. - PubMed - NCBI
A hexanucleotide repeat expansion in C9ORF72 links amyotrophic lateral sclerosis and frontotemporal dementia. [Nat Rev Neurol. ... D) Southern blotting of four expanded repeat carriers and one non-carrier from family member of VSM-20 using genomic DNA ... Here, we report an expansion of a noncoding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with ... For the GGGGCC repeat, numbers indicate hexanucleotide repeat units and the X denotes that the allele could not be detected. ...
  https://www.ncbi.nlm.nih.gov/pubmed/21944778?access_num=21944778&link_type=MED&dopt=Abstract
*  PURA - Wikipedia
The C9ORF72 hexanucleotide repeat expansion (HRE) is capable of binding Pur-alpha very tightly. Pur-alpha may act in ALS ... directly by binding this DNA repeat expansion or its single-stranded RNA transcript. One potential consequence of this binding ... April 2012). "Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and ... ALS has several contributing causes, but the most common familial form is due to an expanded repeat of the hexanucleotide ...
  https://en.wikipedia.org/wiki/PURA
*  The Role of S-Nitrosylation and S-Glutathionylation of Protein Disulphide Isomerase in Protein Misfolding and Neurodegeneration
A. E. Renton, E. Majounie, A. Waite et al., "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21- ... DNA, damage, and dysregulation of redox signalling [28, 37, 38, 40]. Nitrosative or oxidative stress results when there is an ... a hexanucleotide repeat expansion in an intronic region of the chromosome 9 open reading frame 72 (C9orf72) gene, encoding a ... M. DeJesus-Hernandez, I. R. Mackenzie, B. F. Boeve et al., "Expanded GGGGCC hexanucleotide repeat in noncoding region of ...
  https://www.hindawi.com/journals/ijcb/2013/797914/
*  "DNA Hydroxymethylation in Non-coding Repeat Expansion Disorders" by Rustam Esanov
The expansion leads to partial heterochromatinization of the locus, yet mutant RNAs and dipeptide repeat proteins are still ... The Fragile X Syndrome (FXS) results from a repeat expansion mutation near the FMR1 gene promoter and is the most common form ... So far several research groups have identified DNA hypermethylation at C9ORF72 promoter CpG sites in a fraction of patients, ... insight into mechanism and developmental time-course of epigenetic perturbations conferred by the C9ORF72 repeat expansion. ...
  https://scholarlyrepository.miami.edu/oa_dissertations/1883/
*  Protocols and Video Articles Authored by Peter Nagy (Translated to Norwegian)
Apr, 2013 , Pubmed ID: 23036583 A hexanucleotide repeat expansion in C9ORF72 was recently found to cause some cases of ... In this study, we screened DNA samples from 192 unrelated subjects with schizophrenia for the C9ORF72 repeat expansion. None of ... Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family with Hexanucleotide Repeat Expansions in C9orf72 JAMA ... C9ORF72 repeat expansions either do not cause schizophrenia, or do so rarely (less than 1% of cases). ...
  https://www.jove.com/author/Peter_Nagy?language=Norwegian
*  Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide...
A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been ... We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic lateral sclerosis cases (21 of ... A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been ... Patients with C9ORF72 hexanucleotide repeat expansions present some phenotypic differences compared with patients with ...
  https://iris.uniss.it/handle/11388/47350
*  Microsatellite - Wikipedia
"The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA ... with the hexanucleotide repeat motif TTAGGG in vertebrates. They are thus classified as minisatellites. Similarly, insects have ... variable number of tandem repeats) DNA. The name "satellite" DNA refers to the early observation that centrifugation of genomic ... DNA refers to the early observation that centrifugation of genomic DNA in a test tube separates a prominent layer of bulk DNA ...
  https://en.wikipedia.org/wiki/Microsatellite
*  Toward Personalized Cell Therapies by Using Stem Cells: Seven Relevant Topics for Safety and Success in Stem Cell Therapy
In mammalian cells, they consist of hexanucleotide (TTAGGG) repeats and several associated protein components. In the absence ... Proliferation/expansion potential of hMSCs is affected by the in vitro culture conditions, which results in changing of cell/ ... When telomeres reach a critical degree of shortening, cells recognize this as DNA damage and initiate proapoptotic programs or ... A. B. H. Choo, J. Padmanabhan, A. C. P. Chin, and S. K. W. Oh, "Expansion of pluripotent human embryonic stem cells on human ...
  https://www.hindawi.com/journals/bmri/2012/758102/
*  The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies:...
... and hexanucleotide repeat expansion in C9orf72. Patients carrying two copies of the minor allele of three TMEM106b SNPs were ... DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977;74:5463-7.View ArticlePubMedPubMed Central ... in C9orf72 expansion carriers [51]. Conversely, ALS patients with C9orf72 repeat expansion and the protective TMEM106b alleles ... TMEM106b minor allele is protective of FTD but not ALS in patients with C9orf72 repeat expansion. ...
  https://translationalneurodegeneration.biomedcentral.com/articles/10.1186/s40035-017-0098-0
*  Human genome - Wikipedia
About 8% of the human genome consists of tandem DNA arrays or tandem repeats, low complexity repeat sequences that have ... end with a microsatellite hexanucleotide repeat of the sequence (TTAGGG)n.. Tandem repeats of longer sequences (arrays of ... For example, Huntington's disease results from an expansion of the trinucleotide repeat (CAG)n within the Huntingtin gene on ... Noncoding DNA (ncDNA)[edit]. Main article: Noncoding DNA. Noncoding DNA is defined as all of the DNA sequences within a genome ...
  https://en.wikipedia.org/wiki/Human_genome
*  Drug Trials in Frontotemporal Dementia: Can Field Push Forward Together? | ALZFORUM
... or from translation of the DNA repeat expansions into aggregating dipeptide repeat proteins that could damage proteasome ... hexanucleotide repeat expansion in this gene. On April 18 at the American Academy of Neurology's annual meeting in Vancouver, ... More broadly, the abiding research question for C9ORF72, just like for TDP-43, is whether the DNA expansion is toxic by way of ... Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions. J Neurochem. 2016 ...
  https://www.alzforum.org/news/conference-coverage/drug-trials-frontotemporal-dementia-can-field-push-forward-together
*  C9ORF72 Steals the Show at Frontotemporal Dementia Meeting | ALZFORUM
"C9ORF hexanucleotide intronic repeat expansion mutations." Shaw abbreviated the phrase to "C9HIREM." Members of Pam Shaw's lab ... With the DNA, Rogelj found that the repeats tended to form a structure called a G-quadruplex. Four repeats line up side by side ... Repeat expansions in C9ORF72, an open reading frame of unknown function, turned out to explain many cases of both diseases (see ... One big question is how the C9ORF72 expansion damages the cell, and answers are beginning to come in. In a repeat of the ...
  http://www.alzforum.org/news/conference-coverage/c9orf72-steals-show-frontotemporal-dementia-meeting
*  Double-label immunofluorescence for RBM45 (green) and T | Open-i
The most extensive RBM45 pathology was observed in patients that harbor the C9ORF72 hexanucleotide repeat expansion. These ... This protein contains sequence similarities to TAR DNA-binding protein 43 (TDP-43) and fused-in-sarcoma (FUS) that are ... The most extensive RBM45 pathology was observed in patients that harbor the C9ORF72 hexanucleotide repeat expansion. These ... C9ORF72 repeat expansion and exhibits reduced RBM45 nuclear staining when compared to ALS cases without the repeat expansion. ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC3472056_401_2012_1045_Fig5_HTML&req=4
*  Latest News - SITraN
C9orf72 repeat expansion drives neurodegeneration by inducing DNA damage and compromising DNA repair *Study published in Nature ... C9ORF72 hexanucleotide repeat expansions are a major cause of Frontotemporal Dementia and underlie 10% of all Motor Neuron ... mice were transfected with normal and repeat expansion versions of C9ORF72 products. Mice with the repeat expansions developed ... This led to the hypothesis that the C9ORF72 repeat expansion impaired ATM-mediated DNA repair. ...
  http://sitran.org/news/latest/
*  Presence of a heterozygous hexanucleotide expansion in | Open-i
Southern blot analysis on DNA using a probe directed to the hexanucleotide repeat (GGGGCC)5shows ... Presence of a heterozygous hexanucleotide expansion in C9orf72. ... on DNA using a probe directed to the hexanucleotide repeat ( ... Southern blot analysis on DNA using a probe directed to the hexanucleotide repeat (GGGGCC)5shows the presence of an expansion ... The presence of a large expansion was confirmed by Southern blotting which revealed a maximum repeat number in the DNA from ...
  https://openi.nlm.nih.gov/detailedresult.php?img=PMC4260146_nan0040-0502-f3&req=4
*  Frontiers | Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS | Neuroscience
... is intronic hexanucleotide (G4C2) repeat expansions (HRE) in the C9orf72 gene. The non-exclusive pathogenic mechanisms by which ... repeat expansions (HRE) in the C9orf72 gene. The non-exclusive pathogenic mechanisms by which C9orf72 repeat expansions ... Many studies report widespread transcriptome changes in ALS carrying a C9orf72 repeat expansion. Here we review the ... Many studies report widespread transcriptome changes in ALS carrying a C9orf72 repeat expansion. Here we review the ...
  https://www.frontiersin.org/articles/10.3389/fnins.2017.00711/full
*  Kudos - helping increase the reach and impact of research
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Published in:Neurobiology of Aging. ... Deregulation of DNA-dependent protein kinase catalytic subunit contributes to human hepatocarcinogenesis development and has a ... of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of .... ...
  https://www.growkudos.com/profiles/61909
*  C9orf72 - Wikipedia
The buildup of a repeat expansion with each generation is typically thought to occur because the DNA is unstable and therefore ... Possibly most importantly, the identification of this hexanucleotide repeat expansion is an extremely promising avenue for ... "A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD". Neuron. 72 (2): 257-68. doi: ... The mutation of C9ORF72 is a hexanucleotide repeat expansion of the six letter string of nucleotides GGGGCC. In a normal person ...
  https://en.wikipedia.org/wiki/C9orf72
*  Protocols and Video Articles Authored by Elaissa Trybus Hardy (Translated to Spanish)
Frontotemporal Dementia with the C9ORF72 Hexanucleotide Repeat Expansion: Clinical, Neuroanatomical and Neuropathological ... frequency of p62 and TAR DNA-binding protein-43 deposition in 53 control cases with frontotemporal lobar degeneration-TAR DNA- ... Mar, 2012 , Pubmed ID: 22366791 An expanded hexanucleotide repeat in the C9ORF72 gene has recently been identified as a major ... The neuroimaging profile of the C9ORF72 expansion was significantly more symmetrical than progranulin mutations with ...
  https://www.jove.com/author/Elaissa+Trybus_Hardy?language=Spanish
*  Protocols and Video Articles Authored by Elaissa Trybus Hardy (Translated to Hebrew)
Frontotemporal Dementia with the C9ORF72 Hexanucleotide Repeat Expansion: Clinical, Neuroanatomical and Neuropathological ... frequency of p62 and TAR DNA-binding protein-43 deposition in 53 control cases with frontotemporal lobar degeneration-TAR DNA- ... Mar, 2012 , Pubmed ID: 22366791 An expanded hexanucleotide repeat in the C9ORF72 gene has recently been identified as a major ... Repeat Prenatal Corticosteroid Prior to Preterm Birth: a Systematic Review and Individual Participant Data Meta-analysis for ...
  https://www.jove.com/author/Elaissa+Trybus_Hardy?language=Hebrew
*  Protocols and Video Articles Authored by Junmin Peng
Pubmed ID: 27768896 Expansion of a hexanucleotide repeat GGGGCC (G4C2) in C9ORF72 is the most common cause of amyotrophic ... Aug, 2012 , Pubmed ID: 22797300 The DNA damage response (DDR) is a complex regulatory network that is critical for maintaining ... Fob1, a protein that anchors both Net1 and Tof2 to the replication-fork barrier (RFB) in the rDNA repeats, is sumoylated in ... C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles Cell. , ...
  https://www.jove.com/author/Junmin_Peng
*  Genetic etiology of Amyotrophic Lateral Sclerosis - Bryan Traynor
The discovery of the C9ORF72 hexanucleotide repeat expansion is a landmark discovery in our understanding of neurodegenerative ... In these cases, the disease is caused by a six base pair segment of DNA that is pathologically repeated over and over again, up ... they have also shown that the same large hexanucleotide repeat expansion underlies 1% of Alzheimers disease cases. A one ... This so-called large hexanucleotide repeat disrupts the C9ORF72 gene located on chromosome 9. This is the most common genetic ...
  http://grantome.com/grant/NIH/ZIA-AG000933-05
*  Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. - PubMed - NCBI
Hexanucleotide (GGGGCC) repeat expansion is located between alternative exons 1a and 1b. At least three mechanisms may ... In response to DNA damage, FUS/TLS is recruited in the promoter region of cyclin D1 (CCND1) by sense and antisense noncoding ... GGGGCC repeat expansions may lead to reduced expression of the allele containing the repeat expansion (haploinsufficiency); B) ... and expanded hexanucleotide repeats within the C9ORF72 gene. Dysfunction in RNA processing and protein homeostasis is an ...
  https://www.ncbi.nlm.nih.gov/pubmed/23931993?access_num=23931993&link_type=MED&dopt=Abstract