Results 91 to 100 of about 10,200 (202)

Relationship of Body Mass Index With Fuchs Endothelial Corneal Dystrophy Severity and TCF4 CTG18.1 Trinucleotide Repeat Expansion. [PDF]

Cornea, 2021
Kinariwala BB, Xu TT, Baratz KH, Aleff RA, Patel SV, Maguire LJ, Fautsch MP, Wieben ED, Millen AE, Patel SP.   +9 more
europepmc   +1 more source

Saccharomyces cerevisiae Srs2 DNA Helicase Selectively Blocks Expansions of Trinucleotide Repeats [PDF]

, 2004
Saumitri Bhattacharyya, Robert S. Lahue
openalex   +1 more source

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia

Case Reports in Neurology, 2014
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by
Silvia Rota, Eleonora Marchina, Alice Todeschini, Lorenzo Nanetti, Fabrizio Rinaldi, Alessandra Vanotti, Caterina Mariotti, Alessandro Padovani, Massimiliano Filosto   +8 more
doaj   +1 more source

Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family [PDF]

, 2005
Uma Mittal, Sanghamitra Roy, Sanjeev Jain, Achal Kumar Srivastava, Mitali Mukerji   +4 more
openalex   +1 more source

DNA Methylation Leads to DNA Repair Gene Down-Regulation and Trinucleotide Repeat Expansion in Patient-Derived Huntington Disease Cells [PDF]

, 2016
Peter A. Mollica, John A. Reid, Roy C. Ogle, Patrick C. Sachs, Robert D. Bruno   +4 more
openalex   +1 more source

Study of trinucleotide CAG-repeats expansion in androgen receptor gene among patients with suspected Kennedy’s syndrome

, 2023
B. I. Tretiak, M. Tyrkus, Kh. Ya. Bakum, D. V. Zastavna, Hayane Akopyan   +4 more
openalex   +2 more sources

Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS

Neurobiology of Disease, 2023
Neurodegeneration in Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by a CGG trinucleotide repeat expansion in the 5′ UTR of FMR1. Expanded CGG repeat RNAs form stable secondary structures, which in turn support repeat-associated non-AUG ...
Indranil Malik, Yi-Ju Tseng, Clare M. Wieland, Katelyn M. Green, Kristina Zheng, Katyanne Calleja, Peter K. Todd   +6 more
doaj  

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

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene

Stem Cell Research, 2019
Spinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord.
Jean Ann Maguire, Alyssa L. Gagne, Pedro Gonzalez-Alegre, Beverly L. Davidson, Vikram Shakkottai, Paul Gadue, Deborah L. French   +6 more
doaj  

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