Results 41 to 50 of about 19,593 (221)

Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method

Neurobiology of Disease, 1995
Genetic factors are of major aetiological importance in Bipolar Affective Disorder (BPAD type I and II). The exact mode of inheritance of BPAD is unknown, but the recent demonstration of anticipation suggests that dynamic mutations could be involved in ...
Kerstin Lindblad, Per-Olof Nylander, An De bruyn, Daniel Sourey, Cecilia Zander, Christer Engström, Gösta Holmgren, Tom Hudson, Jayanti Chotai, Julien Mendlewicz, Christine Van Broeckhoven, Martin Schalling, Rolf Adolfsson   +12 more
doaj   +1 more source

GFP-based fluorescence assay for CAG repeat instability in cultured human cells. [PDF]

PLoS ONE, 2014
Trinucleotide repeats can be highly unstable, mutating far more frequently than point mutations. Repeats typically mutate by addition or loss of units of the repeat.
Beatriz A Santillan, Christopher Moye, David Mittelman, John H Wilson   +3 more
doaj   +1 more source

Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases

Frontiers in Molecular Neuroscience, 2013
Trinucleotide-repeat expansion diseases (TREDs) are a group of inherited human genetic disorders normally involving late-onset neurological/neurodegenerative affectation.
Eulalia eMarti, Eulalia eMarti, Xavier eEstivill, Xavier eEstivill   +3 more
doaj   +1 more source

Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy

Annals of Clinical and Translational Neurology, 2020
Objective Trinucleotide GGC repeat expansion in the 5’UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID).
Pu Fang, Yanyan Yu, Sheng Yao, Shuyun Chen, Min Zhu, Yunqing Chen, Keji Zou, Lulu Wang, Huan Wang, Ling Xin, Tao Hong, Daojun Hong   +11 more
doaj   +1 more source

Variation within the Huntington's disease gene influences normal brain structure. [PDF]

PLoS ONE, 2012
Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Mark Mühlau, Juliane Winkelmann, Dan Rujescu, Ina Giegling, Nikolaos Koutsouleris, Christian Gaser, Milan Arsic, Adolph Weindl, Maximilian Reiser, Eva M Meisenzahl   +9 more
doaj   +1 more source

CTG trinucleotide repeat "big jumps": large expansions, small mice

PLoS Genetics, 2005
Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1. Disease severity and age of onset are critically linked to expansion size. Previous mouse models of repeat instability have not recreated large intergenerational expansions ("big ...
Mário Gomes‐Pereira, Laurent Foiry, Annie Nicole, Aline Huguet, Claudine Junien, Arnold Münnich, Geneviève Gourdon   +6 more
openalex   +5 more sources

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources

CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral–pallidoluysian atrophy

Neurobiology of Disease, 2022
Dentatorubral–pallidoluysian atrophy (DRPLA) is a devastating genetic disease presenting myoclonus, epilepsy, ataxia, and dementia. DRPLA is caused by the expansion of a CAG repeat in the ATN1 gene.
Yuhei Hasuike, Hana Tanaka, Terence Gall-Duncan, Mustafa Mehkary, Kazuhiko Nakatani, Christopher E. Pearson, Shoji Tsuji, Hideki Mochizuki, Masayuki Nakamori   +8 more
doaj   +1 more source

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

Cell Reports, 2015
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Chul-Yong Park, Tomer Halevy, Dongjin R. Lee, Jin Jea Sung, Jae Souk Lee, Ofra Yanuka, Nissim Benvenisty, Dong-Wook Kim   +7 more
doaj   +1 more source

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

BioTechniques, 2011
Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene.
Timothy P. Holloway, Simone M. Rowley, Martin B. Delatycki, Joseph P. Sarsero   +3 more
doaj   +1 more source