Works matching DE "TRINUCLEOTIDE repeats"

Results: 732

Early cognitive dysfunction in the HD 51 CAG transgenic rat model of Huntington's disease.

Published in:

2012

By:

Fink, Kyle D.;
Rossignol, Julien;
Crane, Andrew T.;
Davis, Kendra K.;
Bavar, Angela M.;
Dekorver, Nicholas W.;
Lowrance, Steven A.;
Reilly, Mark P.;
Sandstrom, Michael I.;
von Hörsten, Stephan;
Lescaudron, Laurent;
Dunbar, Gary L.

Publication type:

Journal Article

Neurocognitive signs in prodromal Huntington disease.

Published in:

2011

By:

Stout, Julie C.;
Paulsen, Jane S.;
Queller, Sarah;
Solomon, Andrea C.;
Whitlock, Kathryn B.;
Campbell, J. Colin;
Carlozzi, Noelle;
Duff, Kevin;
Beglinger, Leigh J.;
Langbehn, Douglas R.;
Johnson, Shannon A.;
Biglan, Kevin M.;
Aylward, Elizabeth H.;
The PREDICT-HD Investigators and Coordinators of the Huntington Study Group

Publication type:

Journal Article

Olfactory and auditory event-related potentials in Huntington's disease.

Published in:

2005

By:

Wetter, Spencer;
Peavy, Guerry;
Jacobson, Mark;
Hamilton, Joanne;
Salmon, David;
Murphy, Claire

Publication type:

Journal Article

Comparison of androgen receptor CAG and GGN repeat length polymorphism in humans and apes.

Published in:

Primates, 2006, v. 47, n. 3, p. 248, doi. 10.1007/s10329-005-0174-4

By:

Hong, Kyung-Won;
Hibino, Emi;
Takenaka, Osamu;
Hayasaka, Ikuo;
Murayama, Yuichi;
Ito, Shin'ichi;
Inoue-Murayama, Miho

Publication type:

Article

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

Published in:

Neurogenetics, 2004, v. 5, n. 2, p. 109, doi. 10.1007/s10048-004-0175-2

By:

Djoussé, Luc;
Knowlton, Beth;
Hayden, Michael R.;
Almqvist, Elisabeth W.;
Brinkman, Ryan R.;
Ross, Christopher A.;
Margolis, Russel L.;
Rosenblatt, Adam;
Durr, Alexandra;
Dode, Catherine;
Morrison, Patrick J.;
Novelletto, Andrea;
Frontali, Marina;
Trent, Ronald J.A.;
McCusker, Elizabeth;
Gómez-Tortosa, Estrella;
Cabrero, David Mayo;
Jones, Randi;
Zanko, Andrea;
Nance, Martha

Publication type:

Article

Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans.

Published in:

Nature Structural & Molecular Biology, 2014, v. 21, n. 8, p. 712, doi. 10.1038/nsmb.2858

By:

Garcia, Susana M D A;
Tabach, Yuval;
Lourenço, Guinevere F;
Armakola, Maria;
Ruvkun, Gary

Publication type:

Article

Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 4, p. 486, doi. 10.1038/nsmb.2520

By:

Follonier, Cindy;
Oehler, Judith;
Herrador, Raquel;
Lopes, Massimo

Publication type:

Article

Incision-dependent and error-free repair of (CAG)n/(CTG)n hairpins in human cell extracts.

Published in:

Nature Structural & Molecular Biology, 2009, v. 16, n. 8, p. 869, doi. 10.1038/nsmb.1638

By:

Caixia Hou;
Chan, Nelson L. S.;
Liya Gu;
Guo-Min Li

Publication type:

Article

SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination.

Published in:

Nature Structural & Molecular Biology, 2009, v. 16, n. 2, p. 159, doi. 10.1038/nsmb.1544

By:

Kerrest, Alix;
Anand, Ranjith P;
Sundararajan, Rangapriya;
Bermejo, Rodrigo;
Liberi, Giordano;
Dujon, Bernard;
Freudenreich, Catherine H;
Richard, Guy-Franck

Publication type:

Article

Autosomal Dominant Spinocerebellar Ataxias: The Subtypes.

Published in:

2020

By:

Murthy, J;
Murthy, J M K

Publication type:

journal article

Spinocerebellar Ataxias in India: Three‑year Molecular Data from a Central Reference Laboratory.

Published in:

2020

By:

Bhanushali, Aparna;
Venkatesan, Radhakrishnan;
Das, Bibhu;
Bhanushali, Aparna Amarendra;
Das, Bibhu R

Publication type:

journal article

The black pearl of the ocean: Kennedy disease.

Published in:

2018

By:

Shah, Preet Mukesh;
Parikh, Pradip;
Dhakre, Vijay

Publication type:

journal article

Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease.

Published in:

Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 10, p. 2413, doi. 10.1007/s10815-022-02594-x

By:

Cho, In K.;
Easley IV, Charles A.;
Chan, Anthony W. S.

Publication type:

Article

CAG repeat instability in embryonic stem cells and derivative spermatogenic cells of transgenic Huntington's disease monkey.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 5, p. 1215, doi. 10.1007/s10815-021-02106-3

By:

Khampang, Sujittra;
Parnpai, Rangsun;
Mahikul, Wiriya;
Easley IV, Charles A.;
Cho, In Ki;
Chan, Anthony W.S.

Publication type:

Article

Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 3, p. 539, doi. 10.1007/s10815-020-01718-5

By:

Shi, Dayuan;
Xu, Jiawei;
Niu, Wenbin;
Liu, Yidong;
Shi, Hao;
Yao, Guidong;
Shi, Senlin;
Li, Gang;
Song, Wenyan;
Jin, Haixia;
Sun, Yingpu

Publication type:

Article

Use of human-derived stem cells to create a novel, in vitro model designed to explore FMR1 CGG repeat instability amongst female premutation carriers.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 8, p. 1443, doi. 10.1007/s10815-018-1237-y

By:

Gustin, Stephanie L. F.;
Wang, Guangwen;
Baker, Valerie M.;
Latham, Gary;
Sebastiano, Vittorio

Publication type:

Article

Androgen receptor ( AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individuals.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 6, p. 909, doi. 10.1007/s10815-015-0484-4

By:

Butler, Merlin;
Manzardo, Ann

Publication type:

Article

Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility.

Published in:

Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 9, p. 1109, doi. 10.1007/s10815-013-0058-2

By:

Poongothai, J.

Publication type:

Article

The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract.

Published in:

Journal of Assisted Reproduction & Genetics, 2010, v. 27, n. 6, p. 327, doi. 10.1007/s10815-010-9392-9

By:

Verpoest, Willem;
Seneca, Sara;
De Rademaeker, Marjan;
Sermon, Karen;
De Rycke, Martine;
De Vos, Michel;
Haentjens, Patrick;
Devroey, Paul;
Liebaers, Ingeborg

Publication type:

Article

Structural Basis for the Identification of an i-Motif Tetraplex Core with a Parallel-Duplex Junction as a Structural Motif in CCG Triplet Repeats.

Published in:

Angewandte Chemie, 2014, v. 126, n. 40, p. 10858, doi. 10.1002/ange.201405637

By:

Chen, Yi ‐ Wen;
Jhan, Cyong ‐ Ru;
Neidle, Stephen;
Hou, Ming ‐ Hon

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

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #609 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138

By:

Barbara M. van der Sluijs;
Baziel G.M. van Engelen;
Lies H. Hoefsloot

Publication type:

Article

Indel-tolerant read mapping with trinucleotide frequencies using cache-oblivious kd-trees.

Published in:

Bioinformatics, 2012, v. 28, n. 18, p. i325, doi. 10.1093/bioinformatics/bts380

By:

Mahmud, Md Pavel;
Wiedenhoeft, John;
Schliep, Alexander

Publication type:

Article

Simple sequence repeats in organellar genomes of rice: frequency and distribution in genic and intergenic regions.

Published in:

Bioinformatics, 2007, v. 23, n. 1, p. 1

By:

Raman M. Sundaram

Publication type:

Article

Repseek, a tool to retrieve approximate repeats from large DNA sequences.

Published in:

Bioinformatics, 2007, v. 23, n. 1, p. 119, doi. 10.1093/bioinformatics/btl519

By:

Guillaume Achaz;
FrÃ©dÃ©ric Boyer;
Eduardo P. C. Rocha;
Alain Viari;
Eric Coissac

Publication type:

Article

Cryo-electron tomography provides topological insights into mutant huntingtin exon 1 and polyQ aggregates.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02360-2

By:

Galaz-Montoya, Jesús G.;
Shahmoradian, Sarah H.;
Shen, Koning;
Frydman, Judith;
Chiu, Wah

Publication type:

Article

Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.

Published in:

Tremor & Other Hyperkinetic Movements, 2022, v. 12, p. 1, doi. 10.5334/tohm.686

By:

GANARAJA, VALAKUNJA HARIKRISHNA;
HOLLA, VIKRAM V.;
STEZIN, ALBERT;
KAMBLE, NITISH;
YADAV, RAVI;
PURUSHOTTAM, MEERA;
JAIN, SANJEEV;
PAL, PRAMOD KUMAR

Publication type:

Article

Epigenetics: Mechanisms underlying fragile X syndrome.

Published in:

Nature Reviews Genetics, 2014, v. 15, n. 4, p. 218, doi. 10.1038/nrg3714

By:

Lokody, Isabel

Publication type:

Article

NEURODEGENERATIVE DISEASES (ND) –CHALLENGES AND PERSPECTIVES IN MOLECULAR APPROACH TREATMENT.

Published in:

Genetics & Applications, 2024, p. 2

By:

Jasmin, Ramić;
Lejla, Pojskić;
Naida, Lojo Kadrić;
Nikolina, Tomić;
Belmina, Šarić Medić

Publication type:

Article

PREVALENCE OF THE FRAGILE X SYNDROME IN YUGOSLAV PATIENTS WITH NON-SPECIFIC MENTAL RETARDATION.

Published in:

Journal of Neurogenetics, 2003, v. 17, n. 2/3, p. 223, doi. 10.1080/714049415

By:

Major, Tamara;
Culjkovic, Biljana;
Stojkovic, Oliver;
Gucscekic, Marija;
Lakic, Aneta;
Romac, Stanka

Publication type:

Article

Development of Roselle (Hibiscus sabdariffa L.) Transcriptome-Based Simple Sequence Repeat Markers and Their Application in Roselle.

Published in:

Plants (2223-7747), 2024, v. 13, n. 24, p. 3517, doi. 10.3390/plants13243517

By:

Tao, Aifen;
Li, Yunqing;
Chen, Jihan;
Li, Jing;
Xu, Jiantang;
Lin, Lihui;
Zhang, Liwu;
Fang, Pingping

Publication type:

Article

New Chloroplast Microsatellites in Helichrysum italicum (Roth) G. Don: Their Characterization and Application for the Evaluation of Genetic Resources.

Published in:

Plants (2223-7747), 2024, v. 13, n. 19, p. 2740, doi. 10.3390/plants13192740

By:

Hladnik, Matjaž;
Baruca Arbeiter, Alenka;
Gabrovšek, Petra;
Tomi, Félix;
Gibernau, Marc;
Brana, Slavko;
Bandelj, Dunja

Publication type:

Article

Establishment of Novel Simple Sequence Repeat (SSR) Markers from Chimonanthus praecox Transcriptome Data and Their Application in the Identification of Varieties.

Published in:

Plants (2223-7747), 2024, v. 13, n. 15, p. 2131, doi. 10.3390/plants13152131

By:

Liu, Bin;
Wu, Hua-Feng;
Cao, Yin-Zhu;
Yang, Xi-Meng;
Sui, Shun-Zhao

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

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

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 517, doi. 10.1002/acn3.51021

By:

Fang, Pu;
Yu, Yanyan;
Yao, Sheng;
Chen, Shuyun;
Zhu, Min;
Chen, Yunqing;
Zou, Keji;
Wang, Lulu;
Wang, Huan;
Xin, Ling;
Hong, Tao;
Hong, Daojun

Publication type:

Article

Phenotype–genotype discrepancies in the prospective Huntington at‐risk observational study.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1046, doi. 10.1002/acn3.781

By:

Shoulson, Ira;
Eberly, Shirley;
Oakes, David;
Kayson, Elise;
Young, Anne B.

Publication type:

Article

Identification of a novel missense mutation in Friedreich's ataxia –FXNW168R.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 4, p. 812, doi. 10.1002/acn3.728

By:

Clark, Elisia;
Strawser, Cassandra;
Schadt, Kimberly;
Lynch, David R.

Publication type:

Article

Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 7, p. 523, doi. 10.1002/acn3.322

By:

Bhalla, Angela D.;
Khodadadi‐Jamayran, Alireza;
Li, Yanjie;
Lynch, David R.;
Napierala, Marek

Publication type:

Article

Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 42, doi. 10.1002/acn3.271

By:

Nakamori, Masayuki;
Taylor, Katarzyna;
Mochizuki, Hideki;
Sobczak, Krzysztof;
Takahashi, Masanori P.

Publication type:

Article

Genome‐wide microsatellite characterisation and marker development in Chenopodium quinoa.

Published in:

Annals of Applied Biology, 2019, v. 175, n. 3, p. 415, doi. 10.1111/aab.12545

By:

Wang, Meng‐Xing;
Wu, Xiao‐Tong;
Zou, Jin‐Wei;
Zhang, Ji;
Wang, Xiao‐Yu;
Chang, Xi;
Song, Wei‐Ning;
Nie, Xiao‐Jun

Publication type:

Article

Identification and Characterization of Microsatellites in Expressed Sequence Tags and Their Cross Transferability in Different Plants.

Published in:

International Journal of Genomics, 2014, p. 1, doi. 10.1155/2014/863948

By:

ul Haq, Shamshad;
Jain, Rohit;
Sharma, Meenakshi;
Kachhwaha, Sumita;
Kothari, S. L.

Publication type:

Article

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

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

Male seminal parameters are not associated with Leydig cell functional capacity in men.

Published in:

Andrology, 2021, v. 9, n. 4, p. 1126, doi. 10.1111/andr.13001

By:

Anand‐Ivell, Ravinder;
Tremellen, Kelton;
Soyama, Hiroaki;
Enki, Doyo;
Ivell, Richard

Publication type:

Article

Serotonin transporter (5‐HTTLPR) genotypes and trinucleotide repeats of androgen receptor exert a combinatorial effect on hormonal milieu in patients with lifelong premature ejaculation.

Published in:

Andrology, 2018, v. 6, n. 6, p. 916, doi. 10.1111/andr.12518

By:

Khan, H. L.;
Bhatti, S.;
Abbas, S.;
Khan, Y. L.;
Gonzalez, R. M. M.;
Aslamkhan, M.;
Gonzalez, G. R.;
Aydin, H. H.

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

Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021, v. 22, n. 5/6, p. 442, doi. 10.1080/21678421.2020.1867182

By:

Jih, Kang-Yang;
Lin, Kon-Ping;
Tsai, Pei-Chien;
Soong, Bing-Wen;
Liao, Yi-Chu;
Lee, Yi-Chung

Publication type:

Article

Mate availability contributes to maintain the mixed-mating system in a scolytid beetle.

Published in:

Journal of Evolutionary Biology, 2009, v. 22, n. 7, p. 1526, doi. 10.1111/j.1420-9101.2009.01763.x

By:

GOTTLIEB, D.;
HOLZMAN, J. P.;
LUBIN, Y.;
BOUSKILA, A.;
KELLEY, S. T.;
HARARI, A. R.

Publication type:

Article

Development and Application of Fruit Color-Related Expressed Sequence Tag-Simple Sequence Repeat Markers in Abelmoschus esculentus on the Basis of Transcriptome Sequencing.

Published in:

Frontiers in Plant Science, 2022, v. 13, p. 1, doi. 10.3389/fpls.2022.907895

By:

An, Xia;
Luo, Xiahong;
Liu, Tingting;
Li, Wenlue;
Zou, Lina

Publication type:

Article