Works matching DE "TRINUCLEOTIDE repeats"

Results: 729

Neuroimaging Techniques in Huntington's Disease: A Critical Review.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 5, p. 561, doi. 10.1002/mdc3.70010

By:

Farag, Mena;
Knights, Harry;
Scahill, Rachael I.;
McColgan, Peter;
Estevez‐Fraga, Carlos

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

Development and characterization of genic SSR markers for mungbean (<i>Vigna radiata</i> (L.) Wilczek)

Published in:

Euphytica, 2014, v. 195, n. 2, p. 245, doi. 10.1007/s10681-013-0993-0

By:

Gupta, S. K.;
Bansal, R.;
Gopalakrishna, T.

Publication type:

Article

Characterization of dinucleotide and trinucleotide EST-derived microsatellites in the wheat genome.

Published in:

Euphytica, 2007, v. 153, n. 1/2, p. 73, doi. 10.1007/s10681-006-9243-z

By:

Gadaleta, Agata;
Mangini, Giacomo;
Mulè, Giuseppina;
Blanco, Antonio

Publication type:

Article

The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population.

Published in:

Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcae479

By:

Livanos, Ioannis;
Votsi, Christina;
Michailidou, Kyriaki;
Pellerin, David;
Brais, Bernard;
Zuchner, Stephan;
Pantzaris, Marios;
Kleopa, Kleopas A;
Papanicolaou, Eleni Zamba;
Christodoulou, Kyproula

Publication type:

Article

Modification of Huntington's disease by short tandem repeats.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae016

By:

Hong, Eun Pyo;
Ramos, Eliana Marisa;
Aziz, N Ahmad;
Massey, Thomas H;
McAllister, Branduff;
Lobanov, Sergey;
Jones, Lesley;
Holmans, Peter;
Kwak, Seung;
Orth, Michael;
Ciosi, Marc;
Lomeikaite, Vilija;
Monckton, Darren G;
Long, Jeffrey D;
Lucente, Diane;
Wheeler, Vanessa C;
Gillis, Tammy;
MacDonald, Marcy E;
Sequeiros, Jorge;
Gusella, James F

Publication type:

Article

Evaluation of CAG repeat length in the androgen receptor gene and polycystic ovary syndrome risk in Iranian women: A casecontrol study.

Published in:

International Journal of Reproductive Biomedicine, 2022, v. 20, n. 3, p. 195, doi. 10.18502/ijrm.v20i3.10711

By:

Arasteh, Hamideh;
Araste, Fatemeh;
Sheikhha, Mohammad Hasan;
Kalantar, Seyyed Mehdi;
Yazd, Ehsan Farashahi;
Ashrafzadeh, Hamid Reza;
Ghasemi, Nasrin

Publication type:

Article

Association of trinucleotide repeat polymorphisms CAG and GGC in exon 1 of the androgen receptor gene with male infertility: a cross-sectional study.

Published in:

Turkish Journal of Medical Sciences, 2022, v. 52, n. 6, p. 1793, doi. 10.55730/1300-0144.5525

By:

ASHRAF, Mussarat;
KAZMI, Shahana Urooj;
TARIQ, Hemaila;
MUNIR, Adnan;
REHMAN, Rehana

Publication type:

Article

Molecular analysis and prevalence of Huntington disease in northwestern Iran.

Published in:

Turkish Journal of Medical Sciences, 2017, v. 47, n. 6, p. 1880, doi. 10.3906/sag-1510-25

By:

SHEKARI KHANIANI, Mahmoud;
AOB, Parisa;
RANJOURI, Mohammadreza;
MANSOORI DERAKHSHAN, Sima

Publication type:

Article

Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey.

Published in:

Turkish Journal of Medical Sciences, 2015, v. 45, n. 6, p. 1228, doi. 10.3906/sag-1402-101

By:

PAZARCI, Perçin;
KASAP, Halil;
KOÇ, Ayşe Filiz;
ALTUNBAŞAK, Şakir;
ERKOÇ, Mehmet Ali

Publication type:

Article

A - 118 Tablet-Based Cognitive Assessment Demonstrates Valid Assessment of Prodromal Huntington's Disease.

Published in:

Archives of Clinical Neuropsychology, 2024, v. 39, n. 7, p. 1059, doi. 10.1093/arclin/acae067.132

By:

Key, Abigail M;
Pinto, Alex;
Adams, William H;
Possin, Katherine L;
Burks, Deven K;
Paulsen, Jane S

Publication type:

Article

Genome-Wide Development of Polymorphic Microsatellite Markers and Genetic Diversity Analysis for the Halophyte Suaeda aralocaspica (Amaranthaceae).

Published in:

Plants (2223-7747), 2023, v. 12, n. 9, p. 1865, doi. 10.3390/plants12091865

By:

Xu, Wei;
Wang, Jiancheng;
Tian, Changyan;
Shi, Wei;
Wang, Lei

Publication type:

Article

Genomic microsatellite characteristics analysis of Dysomma anguillare (Anguilliformes, Dysommidae), based on high-throughput sequencing technology.

Published in:

Biodiversity Data Journal, 2023, p. 1, doi. 10.3897/BDJ.11.e100068

By:

Ziyan Zhu;
Yuping Liu;
Shufei Zhang;
Sige Wang;
Tianyan Yang

Publication type:

Article

Huntington's Disease: Pathogenesis, Therapies, and Emerging Technologies.

Published in:

Journal of Drug Delivery & Therapeutics, 2024, v. 14, n. 10, p. 91, doi. 10.22270/jddt.v14i10.6828

By:

Moazzen, Amir;
Çaglar, Emre Şefik;
Cevher, Erdal

Publication type:

Article

Interrupted CAG expansions in <italic>ATXN2</italic> gene expand the genetic spectrum of frontotemporal dementias.

Published in:

2018

By:

Fournier, Clémence;
Anquetil, Vincent;
Camuzat, Agnès;
Stirati-Buron, Sandrine;
Sazdovitch, Véronique;
Molina-Porcel, Laura;
Turbant, Sabrina;
Rinaldi, Daisy;
Sánchez-Valle, Raquel;
Barbier, Mathieu;
Latouche, Morwena;
Neuro-CEB Neuropathology Network;
Stevanin, Giovanni;
Seilhean, Danielle;
Brice, Alexis;
Duyckaerts, Charles;
Le Ber, Isabelle

Publication type:

Letter

Frameshift Signals in Genes Associated with the Circular Code.

Published in:

In Silico Biology, 2007, v. 7, n. 2, p. 155, doi. 10.3233/isb-00286

By:

Ahmed, Ahmed;
Frey, Gabriel;
Michel, Christian J.

Publication type:

Article

Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2093

By:

Angulo, Mariana B.;
Bertalovitz, Alexander;
Argenziano, Mariana A.;
Yang, Jiajia;
Patel, Aarti;
Zesiewicz, Theresa;
McDonald, Thomas V.

Publication type:

Article

Genetic population evaluation of two closely related flatfish species, the rare barfin flounder and spotted halibut, along the Japanese coast.

Published in:

Fisheries Science, 2006, v. 72, n. 3, p. 556, doi. 10.1111/j.1444-2906.2006.01184.x

By:

Ortega-VillaizáN Romo, María Del Mar;
Aritaki, Masato;
Suzuki, Shigenori;
Ikeda, Minoru;
Asahida, Takashi;
Taniguchi, Nobuhiko

Publication type:

Article

A non-coding mutation in the 5′ untranslated region of patched homologue 1 predisposes to basal cell carcinoma.

Published in:

Experimental Dermatology, 2013, v. 22, n. 12, p. 834, doi. 10.1111/exd.12267

By:

Tietze, Julia K.;
Pfob, Martina;
Eggert, Marlene;
Preußen, Anna;
Mehraein, Yasmin;
Ruzicka, Thomas;
Herzinger, Thomas

Publication type:

Article

Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52667-3

By:

Driscoll, Rachelle;
Hampton, Lucas;
Abraham, Neeta A.;
Larigan, J. Douglas;
Joseph, Nadine F.;
Hernandez-Vega, Juan C.;
Geisler, Sarah;
Yang, Fu-Chia;
Deninger, Matthew;
Tran, David T.;
Khatri, Natasha;
Godinho, Bruno M. D. C.;
Kinberger, Garth A.;
Montagna, Daniel R.;
Hirst, Warren D.;
Guardado, Catherine L.;
Glajch, Kelly E.;
Arnold, H. Moore;
Gallant-Behm, Corrie L.;
Weihofen, Andreas

Publication type:

Article

Genetic diversity, population structure, and DNA fingerprinting of Ailanthus altissima var. erythrocarpa based on EST-SSR markers.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-46798-2

By:

Zhang, Manman;
Zheng, Conghui;
Li, Jida;
Wang, Xueyong;
Liu, Chunpeng;
Li, Xiangjun;
Xu, Zhenhua;
Du, Kejiu

Publication type:

Article

First De Novo genome assembly and characterization of Gaultheria prostrata.

Published in:

Frontiers in Plant Science, 2024, p. 1, doi. 10.3389/fpls.2024.1456102

By:

Lin, Yan-Jun;
Ding, Xiao-Ya;
Huang, Yi-Wei;
Lu, Lu

Publication type:

Article

First de novo genome-specific development, characterization and validation of simple sequence repeat (SSR) markers in Bambusa polymorpha, a commercially important bamboo of India.

Published in:

3 Biotech, 2025, v. 15, n. 2, p. 1, doi. 10.1007/s13205-025-04212-w

By:

Nishtha;
Yadav, Shambhavi;
Meena, Rajendra Kumar;
Godara, Shruti;
Shamoon, Aarzoo;
Kumar, Kishan;
Garg, Rimpee;
Thakur, Ajay

Publication type:

Article

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.

Published in:

2025

By:

Hasan, Hasan;
Santos, Ellery R.;
Amrei, Seyedeh Ala Mokhtabad;
Tassone, Flora;
Randol, Jamie Leah;
Hagerman, Paul;
Hagerman, Randi J.;
Das, Sofia Priyadarsani

Publication type:

Case Study

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1.

Published in:

2023

By:

Makarova, Elizaveta;
Legro, Nicole R.;
Aliu, Ermal

Publication type:

Case Study

Microsatellite Analysis of Expressed Sequence Tags and Development of EST - SSR Markers for Melampsora spp.

Published in:

Plant Diseases & Pests, 2013, v. 4, n. 6, p. 21

By:

Wan Zhibing;
Liu Min;
Yang Wanxu;
Zhang Xinye;
Yin Tongming

Publication type:

Article

Assignment<FOOTREF>[sup 1] </FOOTREF> of the huntingtin (Hdh) gene, the huntingtin associated protein (Hap1) gene, and the huntingtin interacting protein (Hip1) gene to rat chromosomes 14, 10, and 12 by radiation hybrid mapping and fluorescent in situ hybridization

Published in:

Cytogenetics & Cell Genetics, 2001, v. 94, n. 1/2, p. 101, doi. 10.1159/000048797

By:

Zimdahl, H.;
Gösele, C.;
Lütjens, G.;
Grützner, F.;
Kreitler, T.;
Voss, K.;
Wanker, E.;
Knoblauch, M.

Publication type:

Article

Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46236-5

By:

Antón, Rosa;
Treviño, Miguel Á.;
Pantoja-Uceda, David;
Félix, Sara;
Babu, María;
Cabrita, Eurico J.;
Zweckstetter, Markus;
Tinnefeld, Philip;
Vera, Andrés M.;
Oroz, Javier

Publication type:

Article

Refining the diagnosis of Huntington disease: the PREDICT-HD study.

Published in:

Frontiers in Aging Neuroscience, 2013, p. 1, doi. 10.3389/fnagi.2013.00012

By:

Biglan, Kevin M.;
Ying Zhang;
Long, Jeffrey D.;
Geschwind, Michael;
Kang, Gail A.;
Killoran, Annie;
Wenjing Lu;
McCusker, Elizabeth;
Mills, James A.;
Raymond, Lynn A.;
Testa, Claudia;
Wojcieszek, Joanne;
Paulsen, Jane S.;
Morita, Hiroshi;
Furukawa, Katsutoshi;
Ruano, Diego;
Ciarmiello, Andrea;
Andrea, S.

Publication type:

Article

Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup.

Published in:

Hippokratia, 2013, v. 17, n. 1, p. 38

By:

Muthuswamy, S.;
Agarwal, S.;
Dalal, A. R.

Publication type:

Article

Development of Novel Genomewide Simple Sequence Repeat Markers for Acer truncatum Bunge and Assessment of Their Transferability to Other Closely Related Species.

Published in:

Forests (19994907), 2024, v. 15, n. 4, p. 635, doi. 10.3390/f15040635

By:

Long, Yixin;
Bao, Hasengaowa;
Jin, Qingyu;
Wu, Zhiping;
Han, Minghai;
Zhang, Chi;
Wang, Jun

Publication type:

Article

Tissue-dependent regulation of RNAP II dynamics.

Published in:

Transcription (2154-1264), 2013, v. 4, n. 4, p. 172, doi. 10.4161/trns.25971

By:

Goula, Agathi-Vasiliki;
Festenstein, Richard;
Merienne, Karine

Publication type:

Article

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.

Published in:

Acta Neurologica Scandinavica, 2012, v. 125, n. 2, p. 116, doi. 10.1111/j.1600-0404.2011.01504.x

By:

Koht, J.;
Stevanin, G.;
Durr, A.;
Mundwiller, E.;
Brice, A.;
Tallaksen, C. M. E.

Publication type:

Article

An Investigation of FRAXA Intermediate Allele Phenotype in A Longitudinal Sample.

Published in:

Annals of Human Genetics, 2006, v. 70, n. 2, p. 170, doi. 10.1111/j.1529-8817.2005.00220.x

By:

Ennis, S.;
Murray, A.;
Youings, S.;
Brightwell, G.;
Herrick, D.;
Ring, S.;
Pembrey, M.;
Morton, N. E.;
Jacobs, P. A.

Publication type:

Article

TNR/11q#1 Trinucleotide (GCC)n Repeat Alleles and Predisposition to Acute and Chronic Leukemia.

Published in:

Annals of Human Genetics, 2004, v. 68, n. 4, p. 362, doi. 10.1046/j.1529-8817.2004.00101.x

By:

Klinkov, A.A.;
Nikiton, E.A.;
Maiorova, O.V.;
Ivanov, M.A.;
Strelnikov, V.V.;
Babenko, O.V.;
Zemlyakova, V.V.;
Kuznetsova, E.B.;
Zaletayev, D.V.

Publication type:

Article

Transcriptomic meta-analysis reveals ERRα-mediated oxidative phosphorylation is downregulated in Fuchs' endothelial corneal dystrophy.

Published in:

PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0295542

By:

Zhang, Xunzhi;
Kumar, Ashwani;
Sathe, Adwait A.;
Mootha, V. Vinod;
Xing, Chao

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

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families.

Published in:

Behavior Genetics, 2013, v. 43, n. 2, p. 132, doi. 10.1007/s10519-012-9575-5

By:

Huc-Chabrolle, M.;
Charon, C.;
Guilmatre, A.;
Vourc'h, P.;
Tripi, G.;
Barthez, M.;
Sizaret, E.;
Thepault, R.;
Gallic, S.;
Hager, J.;
Toutain, A.;
Raynaud, M.;
Andres, C.;
Campion, D.;
Laumonnier, F.;
Bonnet-Brilhault, F.

Publication type:

Article

Therapeutic Developments in Friedreich Ataxia.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 9, p. 1212, doi. 10.1177/0883073812449691

By:

Wilson, Robert B.

Publication type:

Article

Phosphodiesterase 9A Inhibition Facilitates Corticostriatal Transmission in Wild-Type and Transgenic Rats That Model Huntington's Disease.

Published in:

Frontiers in Neuroscience, 2020, v. 14, p. 1, doi. 10.3389/fnins.2020.00466

By:

Chakroborty, Shreaya;
Manfredsson, Fredric P.;
Dec, Alexander M.;
Campbell, Peter W.;
Stutzmann, Grace E.;
Beaumont, Vahri;
West, Anthony R.

Publication type:

Article

Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients.

Published in:

Frontiers in Neuroscience, 2019, p. 1, doi. 10.3389/fnins.2019.01054

By:

Pathak, Deepti;
Srivastava, Achal Kumar;
Padma, M. V.;
Gulati, Sheffali;
Rajeswari, Moganty R.

Publication type:

Article

From FMRP Function to Potential Therapies for Fragile X Syndrome.

Published in:

Neurochemical Research, 2014, v. 39, n. 6, p. 1016, doi. 10.1007/s11064-013-1229-3

By:

Sethna, Ferzin;
Moon, Changjong;
Wang, Hongbing

Publication type:

Article

Characteristics, development and mapping of Gossypium hirsutum derived EST-SSRs in allotetraploid cotton.

Published in:

Theoretical & Applied Genetics, 2006, v. 112, n. 3, p. 430, doi. 10.1007/s00122-005-0142-9

By:

Zhiguo Han;
Changbiao Wang;
Xianliang Song;
Wangzhen Guo;
Jinying Gou;
Chunhong Li;
Xiaoya Chen;
Tianzhen Zhang

Publication type:

Article

PCR-multiplexes for a genome-wide framework of simple sequence repeat marker loci in cultivated sunflower.

Published in:

Theoretical & Applied Genetics, 2003, v. 107, n. 1, p. 6, doi. 10.1007/s00122-003-1233-0

By:

Shunxue Tang;
Kishore, Venkata K.;
Knapp, Steven J.

Publication type:

Article

Trinucleotide microsatellites in Norway spruce (Picea abies): their features and the development of molecular markers.

Published in:

Theoretical & Applied Genetics, 2002, v. 106, n. 1, p. 40, doi. 10.1007/s00122-002-0986-1

By:

Scotti, I.;
Magni, F.;
Paglia, G.;
Morgante, M.

Publication type:

Article

Characterization of trinucleotide SSR motifs in wheat.

Published in:

Theoretical & Applied Genetics, 2002, v. 104, n. 2/3, p. 286, doi. 10.1007/s001220100698

By:

Song, Q. J.;
Fickus, E. W.;
Cregan, P. B.

Publication type:

Article