Works matching DE "TRINUCLEOTIDE repeats"

Results: 733

南酸枣转录组特征分析及SSR标记开发.

Published in:

Guihaia, 2025, v. 45, n. 4, p. 641, doi. 10.11931/guihaia.gxzw202406022

By:

徐梦阳;
蔡宇宇;
李婷;
吴南生;
孙荣喜

Publication type:

Article

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease.

Published in:

Annals of Neurology, 2025, v. 98, n. 1, p. 107, doi. 10.1002/ana.27222

By:

Ferreira, Ana F.;
Raposo, Mafalda;
Shaw, Emily D.;
Liu, Louisa;
Vasconcelos, João;
Kay, Teresa;
Bettencourt, Conceição;
Saraiva‐Pereira, Maria Luiza;
Jardim, Laura Bannach;
Costa, Maria do Carmo;
Lima, Manuela

Publication type:

Article

Enzyme Inhibitor May Offer Dual Protection against Brain Disease.

Published in:

PLoS Biology, 2012, v. 10, n. 2, p. 1, doi. 10.1371/journal.pbio.1001270

By:

Choi, Charles Q.

Publication type:

Article

Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions.

Published in:

PLoS Biology, 2012, v. 10, n. 2, p. 1, doi. 10.1371/journal.pbio.1001257

By:

Debacker, Kim;
Frizzell, Aisling;
Gleeson, Olive;
Kirkham-McCarthy, Lucy;
Mertz, Tony;
Lahue, Robert S.

Publication type:

Article

Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1.

Published in:

Chromosome Research, 2011, v. 19, n. 4, p. 445, doi. 10.1007/s10577-011-9206-7

By:

Datta, Sonal;
Alam, Mohammad;
Majumdar, Subeer;
Mehta, Abhishek;
Maiti, Souvik;
Wadhwa, Neerja;
Brahmachari, Vani

Publication type:

Article

The nonrandom distribution of long clusters of all possible classes of trinucleotide repeats in barley chromosomes.

Published in:

Chromosome Research, 2007, v. 15, n. 6, p. 711, doi. 10.1007/s10577-007-1156-8

By:

Angeles Cuadrado;
Nicolas Jouve

Publication type:

Article

Evolutionary conservation of the leucine-rich repeat transmembrane protein Gp150 in Drosophila and Bombyx.

Published in:

Development Genes & Evolution, 2000, v. 210, n. 3, p. 145, doi. 10.1007/s004270050021

By:

Dhulkotia, D.;
Nguyen, D.;
Lai, Z. -C.

Publication type:

Article

Implications of maintenance of mother-bud neck size in diverse vital processes of Saccharomyces cerevisiae.

Published in:

Current Genetics, 2019, v. 65, n. 1, p. 253, doi. 10.1007/s00294-018-0872-2

By:

Kubo, Karen;
Okada, Hiroki;
Shimamoto, Takuya;
Kimori, Yoshitaka;
Mizunuma, Masaki;
Bi, Erfei;
Ohnuki, Shinsuke;
Ohya, Yoshikazu

Publication type:

Article

Trinucleotide repeat instability during double-strand break repair: from mechanisms to gene therapy.

Published in:

Current Genetics, 2019, v. 65, n. 1, p. 17, doi. 10.1007/s00294-018-0865-1

By:

Mosbach, Valentine;
Poggi, Lucie;
Richard, Guy-Franck

Publication type:

Article

R-loops: targets for nuclease cleavage and repeat instability.

Published in:

Current Genetics, 2018, v. 64, n. 4, p. 789, doi. 10.1007/s00294-018-0806-z

By:

Freudenreich, Catherine H.

Publication type:

Article

Comparative study on the population genetics of the red algae Furcellaria lumbricalis occupying different salinity conditions.

Published in:

Marine Biology, 2012, v. 159, n. 3, p. 561, doi. 10.1007/s00227-011-1835-z

By:

Kostamo, Kirsi;
Korpelainen, Helena;
Olsson, Sanna

Publication type:

Article

Population genetics of the nurse shark ( Ginglymostoma cirratum) in the western Atlantic.

Published in:

Marine Biology, 2012, v. 159, n. 3, p. 489, doi. 10.1007/s00227-011-1828-y

By:

Karl, Stephen;
Castro, Andrey;
Garla, Ricardo

Publication type:

Article

Population structure of Symbiodinium sp. associated with the common sea fan, Gorgonia ventalina, in the Florida Keys across distance, depth, and time.

Published in:

Marine Biology, 2009, v. 156, n. 8, p. 1609, doi. 10.1007/s00227-009-1196-z

By:

Kirk, Nathan L.;
Andras, Jason P.;
Harvell, C. Drew;
Santos, Scott R.;
Coffroth, Mary Alice

Publication type:

Article

SUPT4H1-edited stem cell therapy rescues neuronal dysfunction in a mouse model for Huntington's disease.

Published in:

NPJ Regenerative Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41536-021-00198-0

By:

Park, Hyun Jung;
Han, Areum;
Kim, Ji Yeon;
Choi, Jiwoo;
Bae, Hee Sook;
Cho, Gyu-bon;
Shin, Hyejung;
Shin, Eun ji;
Lee, Kang-in;
Kim, Seokjoong;
Lee, Jae Young;
Song, Jihwan

Publication type:

Article

SUPT4H1-edited stem cell therapy rescues neuronal dysfunction in a mouse model for Huntington's disease.

Published in:

NPJ Regenerative Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41536-021-00198-0

By:

Park, Hyun Jung;
Han, Areum;
Kim, Ji Yeon;
Choi, Jiwoo;
Bae, Hee Sook;
Cho, Gyu-bon;
Shin, Hyejung;
Shin, Eun ji;
Lee, Kang-in;
Kim, Seokjoong;
Lee, Jae Young;
Song, Jihwan

Publication type:

Article

贵紫麦1 号转录组EST-SSR 标记发掘与应用.

Published in:

Journal of Henan Agricultural Sciences, 2020, v. 49, n. 5, p. 15, doi. 10.15933/j.cnki.1004-3268.2020.05.002

By:

杨帅;
杨喜翠;
何方;
李鲁华;
李振华;
任明见;
徐如宏

Publication type:

Article

基于转录组测序的玫瑰及其近缘种遗传多样性分析与指纹图谱构建.

Published in:

Journal of Northwest A & F University - Natural Science Edition, 2024, v. 52, n. 9, p. 120, doi. 10.13207/j.cnki.jnwafu.2024.09.012

By:

毕宁宁;
侯立娜;
王天琪;
阮坤非;
张静菊;
刘忠华

Publication type:

Article

Recent Progress in Oculopharyngeal Muscular Dystrophy.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 7, p. 1375, doi. 10.3390/jcm10071375

By:

Yamashita, Satoshi;
Lanza, Giuseppe

Publication type:

Article

Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.

Published in:

Cerebellum, 2024, v. 23, n. 6, p. 2258, doi. 10.1007/s12311-024-01723-9

By:

Moura, João;
Oliveira, Jorge;
Santos, Mariana;
Costa, Sara;
Silva, Lénia;
Lemos, Carolina;
Barros, José;
Sequeiros, Jorge;
Damásio, Joana

Publication type:

Article

A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis—Coincidental or Associated?

Published in:

2024

By:

Everest, Elif;
Gulec, Bade;
Uygunoglu, Ugur

Publication type:

Case Study

Commentary to: "The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6" by Rentiya et al., Cerebellum 2020;19(3):459–464).

Published in:

2021

By:

Rowland, Sally;
Du, Xiaofei;
Gomez, Christopher M.

Publication type:

Letter

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 611, doi. 10.1007/s12311-016-0797-6

By:

Foote, Molly;
Arque, Gloria;
Berman, Robert;
Santos, Mónica

Publication type:

Article

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.

Published in:

Cerebellum, 2016, v. 15, n. 5, p. 623, doi. 10.1007/s12311-016-0809-6

By:

Debrey, Sarah;
Leehey, Maureen;
Klepitskaya, Olga;
Filley, Christopher;
Shah, Raj;
Kluger, Benzi;
Berry-Kravis, Elizabeth;
Spector, Elaine;
Tassone, Flora;
Hall, Deborah

Publication type:

Article

Lithium Chloride Therapy Fails to Improve Motor Function in a Transgenic Mouse Model of Machado-Joseph Disease.

Published in:

Cerebellum, 2014, v. 13, n. 6, p. 713, doi. 10.1007/s12311-014-0589-9

By:

Duarte-Silva, Sara;
Neves-Carvalho, Andreia;
Soares-Cunha, Carina;
Teixeira-Castro, Andreia;
Oliveira, Pedro;
Silva-Fernandes, Anabela;
Maciel, Patrícia

Publication type:

Article

Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients.

Published in:

Cerebellum, 2013, v. 12, n. 2, p. 155, doi. 10.1007/s12311-012-0403-5

By:

Musova, Zuzana;
Sedlacek, Zdenek;
Mazanec, Radim;
Klempir, Jiri;
Roth, Jan;
Plevova, Pavlina;
Vyhnalek, Martin;
Kopeckova, Marta;
Apltova, Ludmila;
Krepelova, Anna;
Zumrova, Alena

Publication type:

Article

Loss of Intrinsic Organization of Cerebellar Networks in Spinocerebellar Ataxia Type 1: Correlates with Disease Severity and Duration.

Published in:

Cerebellum, 2011, v. 10, n. 2, p. 218, doi. 10.1007/s12311-010-0214-5

By:

Solodkin, Ana;
Peri, Eitan;
Chen, E.;
Ben-Jacob, Eshel;
Gomez, Christopher

Publication type:

Article

The pathogenesis of spinocerebellar ataxia.

Published in:

Cerebellum, 2005, v. 4, n. 1, p. 62, doi. 10.1080/14734220510007950

By:

Koeppen, Arnulf H.

Publication type:

Article

The Role of NRF2 in Trinucleotide Repeat Expansion Disorders.

Published in:

Antioxidants, 2024, v. 13, n. 6, p. 649, doi. 10.3390/antiox13060649

By:

Chang, Kuo-Hsuan;
Chen, Chiung-Mei

Publication type:

Article

A Transgenic Model of Myotonic Dystrophy: Will the Mouse Roar?

Published in:

Journal of Cardiovascular Electrophysiology, 1999, v. 10, n. 9, p. 1221, doi. 10.1111/j.1540-8167.1999.tb00299.x

By:

Groh, William J.

Publication type:

Article

Signatures of selection in mammalian clock genes with coding trinucleotide repeats: Implications for studying the genomics of high-pace adaptation.

Published in:

Ecology & Evolution (20457758), 2017, v. 7, n. 18, p. 7254, doi. 10.1002/ece3.3223

By:

Prentice, Melanie B.;
Bowman, Jeff;
Lalor, Jillian L.;
McKay, Michelle M.;
Thomson, Lindsay A.;
Watt, Cristen M.;
McAdam, Andrew G.;
Murray, Dennis L.;
Wilson, Paul J.

Publication type:

Article

Development and Validation of Gene-Based SSR Markers in the Genus Mesembryanthemum.

Published in:

Scientifica, 2023, p. 1, doi. 10.1155/2023/6624354

By:

Akash, Muhanad;
Shiyab, Safwan;
Saleh, Mohammed;
Hasan, Shireen M.;
AbuHussein, Mahmoud;
Al-Awaida, Wajdy

Publication type:

Article

Comprehensive analysis of splicing variants in corneal endothelial cells of patients with Fuchs endothelial corneal dystrophy.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92119-0

By:

Yuasa, Taichi;
Tokuda, Yuichi;
Nakano, Masakazu;
Tashiro, Kei;
Tourtas, Theofilos;
Schlötzer-Schrehardt, Ursula;
Kruse, Friedrich;
Koizumi, Noriko;
Okumura, Naoki

Publication type:

Article

LINKS: Scalable, alignment-free scaffolding of draft genomes with long reads.

Published in:

GigaScience, 2015, v. 4, n. 1, p. 1, doi. 10.1186/s13742-015-0076-3

By:

Warren, René L.;
Chen Yang;
Vandervalk, Benjamin P.;
Behsaz, Bahar;
Lagman, Albert;
Jones, Steven J. M.;
Birol, Inanç

Publication type:

Article

cpDNA SSR POLYMORPHISM IN SECONDARY GERMPLASM OF POTATO MAINTAINED IN CZECH GENE BANK.

Published in:

Pakistan Journal of Agricultural Sciences, 2014, v. 51, n. 3, p. 745

By:

Zeka, Dukagjin;
Sedlak, Petr;
Sedlakova, Vladimira;
Vasek, Jakub;
Domkarova, Jaroslava;
Vejl, Pavel

Publication type:

Article

Genetic variants in FGFR2 and TNRC9 genes are associated with breast cancer risk in Pakistani women.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 4, p. 3443, doi. 10.3892/mmr.2016.5633

By:

MAZHAR, AYESHA;
JAMIL, FARRUKH;
BASHIR, QAMAR;
AHMAD, MUNAWAR SALEEM;
MASOOD, MISBAH;
TANVIR, IMRANA;
RASHID, NAEEM;
WAHEED, ABDUL;
AFZAL, MUHAMMAD NAVEED;
TARIQ, MUHAMMAD AKRAM

Publication type:

Article

Positive association of the androgen receptor CAG repeat length polymorphism with the risk of prostate cancer.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 2, p. 1791, doi. 10.3892/mmr.2016.5414

By:

PAZ-Y-MIÑO, CÉSAR;
ROBLES, PAULO;
SALAZAR, CAROLINA;
LEONE, PAOLA E.;
GARCÍA-CÁRDENAS, JENNYFER M.;
NARANJO, MANUEL;
LÓPEZ-CORTÉS, ANDRÉS

Publication type:

Article

ISOLATION OF MICROSATELLITE PRIMERS FOR MELAMPYRUM SYLVATICUM (OROBANCHACEAE), AN ENDANGERED PLANT IN THE UNITED KINGDOM.

Published in:

American Journal of Botany, 2012, v. 99, n. 11, p. e457, doi. 10.3732/ajb.1200103

By:

CRICHTON, RHIANNON J.;
SQUIRRELL, JANE;
WOODIN, SARAH J.;
DALRYMPLE, SARAH E.;
HOLLINGSWORTH, PETER M.

Publication type:

Article

An Unusually Low Prevalence of Huntington's Disease in Iceland.

Published in:

European Neurology, 2012, v. 68, n. 1, p. 48, doi. 10.1159/000337680

By:

Sveinsson, Ólafur;
Halldórsson, Sigurður;
Olafsson, Elias

Publication type:

Article

Association of genetic variants with prostate cancer in Africa: a concise review.

Published in:

Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00157-w

By:

Acheampong, Emmanuel;
Adu, Evans Asamoah;
Obirikorang, Christian;
Amoah, George;
Afriyie, Osei Owusu;
Yorke, Joseph;
Anto, Enoch Odame;
Gyamfi, Michael Adu;
Acheampong, Emmanuella Nsenbah;
Gyasi-Sarpong, Christian Kofi;
Yeboah, Francis Agyemang

Publication type:

Article

Reduction in PA28αβ activation in HD mouse brain correlates to increased mHTT aggregation in cell models.

Published in:

PLoS ONE, 2022, v. 17, n. 12, p. 1, doi. 10.1371/journal.pone.0278130

By:

Geijtenbeek, Karlijne W.;
Janzen, Jolien;
Bury, Aleksandra E.;
Sanz-Sanz, Alicia;
Hoebe, Ron A.;
Bondulich, Marie K.;
Bates, Gillian P.;
Reits, Eric A. J.;
Schipper-Krom, Sabine

Publication type:

Article

Accumulation of senescence observed in spinocerebellar ataxia type 7 mouse model.

Published in:

PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0275580

By:

Miller, William;
Pruett, Charles Lewis Humphrey;
Stone, William;
Eide, Cindy;
Riddle, Megan;
Popp, Courtney;
Yousefzadeh, Matthew;
Lees, Christopher;
Seelig, Davis;
Thompson, Elizabeth;
Orr, Harry;
Niedernhofer, Laura;
Tolar, Jakub

Publication type:

Article

Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1.

Published in:

PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0269683

By:

Eltahir, Mougina K.;
Nakamori, Masayuki;
Hattori, Satoshi;
Kimura, Takashi;
Mochizuki, Hideki;
Nagano, Seiichi

Publication type:

Article

Development of mAb-based polyglutamine-dependent and polyglutamine length-independent huntingtin quantification assays with cross-site validation.

Published in:

PLoS ONE, 2022, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0266812

By:

Fischer, David F.;
Dijkstra, Sipke;
Lo, Kimberly;
Suijker, Johnny;
Correia, Ana C. P.;
Naud, Patricia;
Poirier, Martin;
Tessari, Michela A.;
Boogaard, Ivette;
Flynn, Geraldine;
Visser, Mijke;
Lamers, Marieke B. A. C.;
McAllister, George;
Munoz-Sanjuan, Ignacio;
Macdonald, Douglas

Publication type:

Article

Comparative analysis of the complete plastid genomes in Prunus subgenus Cerasus (Rosaceae): Molecular structures and phylogenetic relationships.

Published in:

PLoS ONE, 2022, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0266535

By:

Li, Meng;
Song, Yan-Feng;
Sylvester, Steven P.;
Wang, Xian-Rong

Publication type:

Article

Neuromyelitis optica spectrum disorder in a patient with spinocerebellar ataxia type 6.

Published in:

Neurology Asia, 2019, v. 24, n. 4, p. 377

By:

Siryung Han;
Dae Woong Bae;
Jae Young An

Publication type:

Article

The first case report of fragile X-associated tremor ataxia syndrome in the Republic of Korea.

Published in:

2014

By:

Gwanhee Ehm;
Hui-Jun Yang;
Han-Joon Kim;
Beom Seok Jeon

Publication type:

Case Study

Trinucleotide repeat spinocerebellar ataxias: experience of a tertiary care centre in Western India with review of Indian literature.

Published in:

Neurology Asia, 2012, v. 17, n. 3, p. 213

By:

Khadilkar, Satish V.;
Dabi, Rajesh;
Dhonde, Pramod;
Nadkarni, Nilesh;
Kulkarni, Smita;
Sarnath, Dhananjaya

Publication type:

Article

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1.

Published in:

Psychological Medicine, 2010, v. 40, n. 3, p. 487, doi. 10.1017/S0033291709990602

By:

Sistiaga, A.;
Urreta, I.;
Jodar, M.;
Cobo, A. M.;
Emparanza, J.;
Otaegui, D.;
Poza, J. J.;
Merino, J. J.;
Imaz, H.;
Martí-Massó, J. F.;
de Munain, A. López

Publication type:

Article

Expanding Phaseolus coccineus Genomic Resources: De Novo Transcriptome Assembly and Analysis of Landraces 'Gigantes' and 'Elephantes' Reveals Rich Functional Variation.

Published in:

Biochemical Genetics, 2019, v. 57, n. 6, p. 747, doi. 10.1007/s10528-019-09920-6

By:

Xanthopoulou, Aliki;
Kissoudis, Christos;
Mellidou, Ifigeneia;
Manioudaki, Maria;
Bosmali, Irene;
Tsakonitis, Vasilis;
Kalivas, Apostolos;
Osathanunkul, Maslin;
Tsaftaris, Athanasios;
Ganopoulos, Ioannis;
Madesis, Panagiotis

Publication type:

Article

Salen-Type Triple-Decker Trinuclear Dy<sub>3</sub> Complexes Showing Slow Magnetic Relaxation Behavior.

Published in:

European Journal of Inorganic Chemistry, 2012, v. 2012, n. 27, p. 4287, doi. 10.1002/ejic.201200357

By:

Yang, Fan;
Yan, Pengfei;
Li, Quan;
Chen, Peng;
Li, Guangming

Publication type:

Article