Results 41 to 50 of about 17,057 (211)

Atypical course of Parkinson’s disease with clinical manifestations of Huntington’s disease in a patient with an allele of 27 CAG repeats in the HTT gene

Бюллетень сибирской медицины, 2021
Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease. Its molecular cause is a cytosine-adenine-guanine (CAG) trinucleotide repeat dynamic expansion in the huntingtin (HTT) gene.
M. A. Nikitina, E. Yu. Bragina, M. S. Nazarenko, N. G. Zhukova, D. E. Gomboeva, K. F. Nurzhanova, N. V. Tsentr, V. M. Alifirova   +7 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

Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]

Journal of Movement Disorders, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh, Eun-Seon Park, Seong-Min Choi, Byeong-Chae Kim, Myeong-Kyu Kim, Ki-Hyun Cho   +5 more
doaj   +1 more source

ProRepeat: an integrated repository for studying amino acid tandem repeats in proteins

, 2011
ProRepeat (http://prorepeat.bioinformatics.nl/) is an integrated curated repository and analysis platform for in-depth research on the biological characteristics of amino acid tandem repeats.
Harm Nijveen, Lin, K., Jack A. M. Leunissen, K. Lin, Audrey David, Luo, H., Ke Lin, A. David, David, A., H. Nijveen, H. Luo, Leunissen, J.A.M., Nijveen, H., Hong Luo, J. A. M. Leunissen   +14 more
core   +1 more source

Expanded CAG/CTG repeat DNA induces a checkpoint response that impacts cell proliferation in Saccharomyces cerevisiae. [PDF]

PLoS Genetics, 2011
Repetitive DNA elements are mutational hotspots in the genome, and their instability is linked to various neurological disorders and cancers. Although it is known that expanded trinucleotide repeats can interfere with DNA replication and repair, the ...
Rangapriya Sundararajan, Catherine H Freudenreich   +1 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

Spinocerebellar ataxia 12 patients have better quality of life than spinocerebellar ataxia 1 and 2

Annals of Indian Academy of Neurology, 2022
Background: Spinocerebellar ataxia is a neurodegenerative disease. Information on comparative assessment of quality of life (QoL) among SCAs, particularly SCA 12, is scarce. We aimed to compare health-related QoL in SCA 1, 2 and 12. Methods: We conducted
Surekha Dabla, Divyani Garg, Rajeev Aggarwal, Nand Kumar, Mohammad Faruq, Roopa Rajan, Garima Shukla, Vinay Goyal, Ravindra Mohan Pandey, Achal Kumar Srivastava   +9 more
doaj   +1 more source

SERRATE Regulates Floral Meristem Activity by Antagonizing SHOOT MERISTEMLESS and Repressing Cytokinin Signaling

Advanced Science, EarlyView.
Floral meristem (FM) activity is crucial for the initiation of floral organs. In this study, SE represses IPT7 expression and cytokinin signaling via both the miR171c‐5p–KNAT2 and miR164c–CUC1/2–KNAT2 regulatory modules, thereby repressing FM activity. In contrast, STM induces both KNAT2 and IPT7 expression.
Wen Yang, Yiting Wang, Yuxin You, Zhiyue Wu, Dongbao Li, Xin Wang, Yongsheng Chang, Hang Zhao, Tao Zhu, Dijun Chen, Wei Chen, Bo Sun   +11 more
wiley   +1 more source

DMS‐MaPseq and DREEM Analyses Implicate the Critical Role of RNA Structural Dynamics in Turnip Yellow Mosaic Virus Pathogenicity

Advanced Science, EarlyView.
RNA structural profiling of Turnip Yellow Mosaic Virus by DMS‐MaPseq and DREEM analyses uncover that viral genome‐wide RSS is highly complicated and heterogeneous, with alternative RSSs widely distributed across the genome. Notably, the viral 3’ tRNA‐like structure adopts alternative conformations in vivo.
Jiaying Zhu, Changhao Li, Chisimbily Onyia, Xindi Li, Xingxing Yan, Songxiao Zhong, Taerin Oh, Xiuren Zhang   +7 more
wiley   +1 more source

A Case of Juvenile Huntington Disease in a 6-Year-Old Boy [PDF]

Journal of Movement Disorders, 2010
Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades.
Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim
doaj   +1 more source