*  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
*  Protocols and Video Articles Authored by Elaissa Trybus Hardy (Translated to Korean)
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=Korean
*  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 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
*  Clinical Trials on Alzheimer's Disease 2011 | ALZFORUM
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. ... Corrupt Code: DNA Repeats Are Common Cause for ALS and FTD 23 Sep 2011. ... Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 Oct ... Corrupt Code: DNA Repeats Are Common Cause for ALS and FTD 23 Sep 2011. ...
  https://www.alzforum.org/print-series/210586
*  JoVE | Peer Reviewed Scientific Video Journal - Methods and Protocols
Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72. ... Neither DNA fragmentation nor DNA condensation was observed, which means that ANK-199-induced cell death is not triggered by ... Both our patient with ataxia and her uncle with ALS have full pathological CAG repeat expansions of ATXN2. CONCLUSIONS AND ... Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family With Full CAG Repeat Expansions of ATXN2. ...
  https://www.jove.com/visualize?author=Sheng-Chu+Kuo
*  Aaron D. Gitler | Stanford Medicine Profiles
C9orf72 harbors a hexanucleotide repeat, GGGGCC, in a non-coding region of the gene and a massive expansion of this repeat ... DNA analysis of patients revealed that intermediate-length polyglutamine expansions in ataxin-2 are a risk factor for ALS, such ... Moreover, repeat expansions associated with ALS are interrupted CAA-CAG sequences as opposed to the pure CAG repeat expansions ... What is the consequence of an enormous GGGGCC repeat expansion on that gene's function? Could that hexanucleotide repeat ...
  https://med.stanford.edu/profiles/aaron-gitler
*  Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese | Genome Medicine | Full Text
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2015;36:2660.e1-8. ... A framework for variation discovery and genotyping using next-generation DNA sequencing data. Genome Res. 2010;20:491-8.View ... Only the cases were screened for C9orf72 repeat expansion. Samples were indexed and multiplexed in groups of six per lane and ... Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2016 ...
  https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-017-0487-0
*  Frontotemporal lobar degeneration - Wikipedia
... showing that a hexanucleotide repeat expansion of the GGGGCC genetic sequence within an intron of this gene was responsible. ... May 2007). "Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43 ... 2011). "Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS". Neuron. ... This expansion was found to be present in a large proportion of familial and sporadic cases, particularly in the Finnish ...
  https://en.wikipedia.org/wiki/Frontotemporal_lobar_degeneration
*  G-quadruplex - Wikipedia
This repeat expansion promotes DNA methylation and other epigenetic heterochromatin modifications of FMR1 that prevent the ... "Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than ... The first is through expansions of G-repeats within genes that lead to the formation of G-quadruplex structures that directly ... 2013) Targeting RNA foci in iPSC-derived motor neurons from ALS patients with C9orf72 repeat expansion. Sci. Transl. Med. 5. ...
  https://en.wikipedia.org/wiki/G-quadruplex
*  Chicago-Devilish Duo: Two Mutations Add Up to Familial ALS | ALZFORUM
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. ... Corrupt Code: DNA Repeats Are Common Cause for ALS and FTD 23 Sep 2011. ... Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 Oct ... How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other ...
  http://www.alzforum.org/news/conference-coverage/chicago-devilish-duo-two-mutations-add-familial-als
*  Stress Granules and ALS: A Case of Causation or Correlation? | Springer for Research & Development
... cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion ... TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1. Hum Mol ... Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG ... ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet. 2011;130:575-80.PubMedCrossRefPubMedCentralGoogle ...
  https://rd.springer.com/chapter/10.1007%2F978-3-319-89689-2_7
*  Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC...
E) Repeat lengths determined by genomic DNA blotting using DNA from the CNS and peripheral tissues of a C9450B mouse. (F) Human ... Hexanucleotide expansions caused age-, repeat-length-, and expression-level-dependent accumulation of RNA foci and dipeptide- ... B-D) Genomic DNA blot analysis of tail DNA from (B) founder (F0) and F1 transgenic mice from lines 9 or 15 and DNA from human ... Numbers above bars are repeat lengths measured by genomic DNA blots. (G) Expression levels of total (mouse plus human) C9ORF72 ...
  https://www.ncbi.nlm.nih.gov/pubmed/27112497?access_num=27112497&link_type=MED&dopt=Abstract
*  When C9ORF72 Silences U2, Spliceosomes Can't Find What They're Looking For | ALZFORUM
Expanded C9ORF72 hexanucleotide repeats cause many cases of amyotrophic lateral sclerosis and frontotemporal dementia, but ... has been repeatedly demonstrated in models of disease associated with G4C2-repeat expansion of C9ORF72. The question of how ... author Shanye Yin used a cell-free system developed in the Reed lab that combined nuclear extract from HeLa cells with a DNA ... The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains. Elife ...
  https://www.alzforum.org/news/research-news/when-c9orf72-silences-u2-spliceosomes-cant-find-what-theyre-looking
*  Synapse loss in the prefrontal cortex is associated with cognitive decline in amyotrophic lateral sclerosis | SpringerLink
Genetic screening revealed that 6 ALS cases had a hexanucleotide repeat expansion in C9orf72, 3 cases had SOD1 variations and 2 ... Medina DX, Orr ME, Oddo S (2014) Accumulation of C-terminal fragments of transactive response DNA-binding protein 43 leads to ... Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta ... Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions. Mol Cell Probes 30:218-224. https://doi.org/ ...
  https://link.springer.com/article/10.1007%2Fs00401-017-1797-4
*  Chemistry & Biology - organic-reaction.com
Teaser A GGGGCC hexanucleotide expansion within the C9orf72 gene can cause familial amyotrophic lateral sclerosis and ... Synthetic agents that bind these hexanucleotide repeats and block foci would be leads for therapeutic discovery. We have ... show that the small molecule 6-hydroxy-DL-dopa prevents RAD52 from binding to single-strand DNA by disrupting oligomeric ring ... The C9orf72 locus also expresses an antisense transcript with a CCCCGG expansion that forms foci and may contribute to disease ...
  https://www.organic-reaction.com/organic-and-medicinal-chemistry-news/chemistry-biology/
*  Evolutionary Conservation and Expression of Human RNA-Binding Proteins and Their Role in Human Genetic Disease | SpringerLink
Kobayashi H, Abe K, Matsuura T et al (2011) Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of ... Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol ... Kremer EJ, Pritchard M, Lynch M et al (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p( ... Orr HT, Chung MY, Banfi S et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat ...
  https://link.springer.com/chapter/10.1007%2F978-1-4939-1221-6_1
*  The complete chloroplast genome of Colobanthus apetalus (Labill.) Druce: genome organization and comparison with related...
In addition, a simple sequence repeat (SSR) analysis revealed 41 (mono-, di-, tri-, tetra-, penta- and hexanucleotide) SSRs, ... A total of 12 forward repeats, 10 palindromic repeats, five reverse repeats and three complementary repeats were detected. ... of 17,206 bp separated by inverted repeats (IRs) of 25,321 bp. The cp genome contains 131 genes, including 112 unique genes and ... Total genomic DNA was extracted from the fresh tissue of a single plant using the Syngen Plant DNA Mini Kit. The quality of DNA ...
  https://peerj.com/articles/4723/
*  JoVE Author Search: Lee YC
A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.. Abstract. ... Genetic variants in DNA repair predicts the survival of patients with esophageal cancer.. Abstract. ...
  http://labindex.jove.com/author/Lee-YC
*  Unità Valutativa Alzheimer (U.V.A.) - Centro Dino Ferrari
Novel Evidence of Phenotypical Variability in the Hexanucleotide Repeat Expansion in Chromosome 9.. Cerami C, Marcone A, ... DNA methylation in Repetitive Elements and Alzheimer disease.. Bollati V, Galimberti D, Pergoli L, Valle ED, Barretta F, ... Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic ... Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic ...
  http://www.centrodinoferrari.com/laboratori/unita-valutativa-alzheimer/pubblicazioni/
*  Microsatellite markers in candidate genes for wood properties and its application in functional diversity assessment in...
It is expected that tri- and hexanucleotide repeats would occur more frequently than other motifs in coding sequences (Metzgar ... Plant material and DNA extraction. A total of 54 non related trees, each from a different open-pollinated (OP) family of E. ... METZGAR, D.; BYTOF, J. and WILLS, C. (2000). Selection against frameshift mutations limits microsatellite expansion in coding ... In this work, we did not find trinucleotide repeats inside exons. However, two out of three non-trinucleotide repeats were ...
  http://www.ejbiotechnology.info/index.php/ejbiotechnology/article/view/v15n2-3/1422
*  Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss | SpringerLink
... n repeat in C9orf72patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) causes abundant poly-GA ... A (ggggcc)n hexanucleotide repeat expansion upstream of the coding region of C9orf72 is the most common genetic cause of ... DNA constructs and lentivirus production. cDNA of rat Mlf2 (NCBI Gene ID: 312709) containing an N-terminal HA-tag was expressed ... repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions ...
  https://link.springer.com/article/10.1007/s00401-017-1711-0