Results 81 to 90 of about 10,792 (169)

Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases. [PDF]

J Huntingtons Dis, 2021
Benn CL, Gibson KR, Reynolds DS.
europepmc   +1 more source

Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich. [PDF]

Adv Biomed Res, 2021
Joz Abbasalian Z, Khanahmad H, Tabatabaiefar MA.   +2 more
europepmc   +1 more source

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes. [PDF]

Genes (Basel), 2021
Tekendo-Ngongang C, Grochowsky A, Solomon BD, Yano ST.   +3 more
europepmc   +1 more source

The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel

Orphanet Journal of Rare Diseases
Background Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant myopathy, caused by a (GCN)n/polyalanine repeat expansion in the PABPN1 gene.
Merav Ben-David, Lior Greenbaum, Vera Nikitn, Alex Zvulunov, Hagit Charas, Naama Divon, Tali Barkan, Odelia Chorin, Haike Reznik-Wolf, Ofira Zloto, Limor Benyamini, Shahar Shelly, Amir Dori   +12 more
doaj   +1 more source

Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS. [PDF]

Sci Rep, 2021
Ajjugal Y, Kolimi N, Rathinavelan T.
europepmc   +1 more source

A Case Report of Myotonic Dystrophy Type 1 Presenting as Acute Respiratory Failure

罕见病研究
Myotonic dystrophy type 1 (DM1) is a multisystem trinucleotide repeat expansion disorder usually referred to the department of neurology with complaints of progressive muscle weakness and myotonia.
WANG Yiqi, LIN Jie, XI Jianying, LUO Sushan, ZHENG Yanmei, ZHAO Chongbo   +5 more
doaj   +1 more source

DNA trinucleotide repeat expansion in neuropsychiatric patients.

Medical science monitor : international medical journal of experimental and clinical research, 2004
Dynamic mutations in human genes result from unstable trinucleotide repeats which are expanded within the genome. These expansions of trinucleotide repeats have been shown to be the etiological factors in various neuropsychiatric diseases and other genetic disorders. This hypothesis is supported by various independent studies showing large expansion of
Sameena, Mohmood, Asma, Sherwani, Fauzia, Khan, Rizwan H, Khan, Asim, Azfer   +4 more
openaire   +1 more source

Generation and characterization of two human induced pluripotent stem cell lines from myotonic dystrophy type 1 patients

Stem Cell Research
The neuromuscular disorder myotonic dystrophy Type 1 (DM1) is brought on by CTG trinucleotide repeat expansions in the dystrophia myotonica-protein kinase (DMPK) gene, which leads to progressive myotonia and muscle weakness.
Pooja Darji, Wenqiang Liu, Wenshu Zeng, Jade T. Chao, Paul D. Pang, Matthew T. Wheeler, Marco Perez, Joseph C. Wu   +7 more
doaj   +1 more source

A pedigree of spinocerebellar ataxia type 2

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
DOI: 10.3969/j.issn.1672-6731.2019.03 ...
Yan-xin LI, Li SONG, Zhan-yun LÜ, Quan-quan WANG, Yan-lei HAO   +4 more
doaj  

Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy. [PDF]

Eye (Lond), 2020
Okumura N, Puangsricharern V, Jindasak R, Koizumi N, Komori Y, Ryousuke H, Nakahara M, Nakano M, Adachi H, Tashiro K, Yoshii K, Chantaren P, Ittiwut R, Shotelersuk V, Suphapeetiporn K.   +14 more
europepmc   +1 more source