Results 131 to 140 of about 26,757 (246)

Folate Deficiency Triggers the Abnormal Segregation of a Region With Large Cluster of CG-Rich Trinucleotide Repeats on Human Chromosome 2. [PDF]

Front Genet, 2021
Garribba L, Vogel I, Lerdrup M, Gonçalves Dinis MM, Ren L, Liu Y.   +5 more
europepmc   +1 more source

Trinucleotide Repeats Are Clustered in Regulatory Genes in Saccharomyces cerevisiae [PDF]

, 2000
Elton T. Young, James S. Sloan, Kristen van Riper   +2 more
openalex   +1 more source

Expandable DNA Repeat and Human Hereditary Disorders [PDF]

Journal of Kerman University of Medical Sciences, 2016
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia.
Shahin Ramazi, Ali Fasihi, Maryam Godarziyan, Morteza Hashemzadeh-Chaleshtori   +3 more
doaj  

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus [PDF]

, 2002
BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions.
Alonso, I, Barbot, C, Barros, J, Coelho, J, Ferreirinha, F, Ferro, A, Guimarães, L, Januário, C, Mendonça, P, Miranda, C, Moreira, MC, Pinto-Basto, J, Poirier, J, Silveira, I, Tuna, A, Vale, J   +15 more
core  

Huntington disease: DNA analysis in brazilian population

Arquivos de Neuro-Psiquiatria, 2000
Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings ...
RASKIN SALMO, ALLAN NASSER, TEIVE HÉLIO A.G., CARDOSO FRANCISCO, HADDAD MÔNICA SANTORO, LEVI GILBERTO, BOY RAQUEL, LERENA JR JUAN, SOTOMAIOR VANESSA SANTOS, JANZEN-DÜCK MÔNICA, JARDIM LAURA BANNACH, FELLANDER FLÁVIO R., ANDRADE LUIZ AUGUSTO FRANCO   +12 more
doaj  

Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient

Stem Cell Research
The PPP2R2B gene, expressed highly in the brain, harbours trinucleotide CAG repeats in the 5′UTR region, in the range of 7–42 repeats. Individuals carrying CAG repeats greater than 43 have been associated to manifest a neurodegenerative disease condition
Sana Zahra, Himanshi Kapoor, Istaq Ahmad, Asangla Kamai, Achal Kumar Srivastava, Mohammed Faruq   +5 more
doaj  

Cis-Elements Governing Trinucleotide Repeat Instability in Saccharomyces cerevisiae [PDF]

, 2001
Michael Rolfsmeier, Michael J. Dixon, Luis Pessoa-Brandão, Richard Pelletier, Juan J. Miret, Robert S. Lahue   +5 more
openalex   +1 more source

Stick-slip unfolding favors self-association of expanded HTT mRNA

Nature Communications
In Huntington’s Disease (HD) and related disorders, expansion of CAG trinucleotide repeats produces a toxic gain of function in affected neurons.
Brett M. O’Brien, Roumita Moulick, Gabriel Jiménez-Avalos, Nandakumar Rajasekaran, Christian M. Kaiser, Sarah A. Woodson   +5 more
doaj   +1 more source

Larger Trinucleotide Repeat Size in the Androgen Receptor Gene of Infertile Men With Extremely Severe Oligozoospermia [PDF]

, 2001
Pasquale Patrizio, Debra G. B. Leonard, Ke‐Lian Chen, S. Hernández-Ayup, Alan Trounson   +4 more
openalex   +1 more source

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