Results 51 to 60 of about 39,855 (249)

Oculopharyngodistal myopathy caused by CGG repeat expansion in 5'untranslated region of LRP12 gene: four cases report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
Objective To report the clinical and pathological features of 4 patients with oculopharyngodistal myopathy type 1 (OPDM1) caused by CGG repeat expansion in the 5'untranslated region (5'UTR) of LRP12 gene.
YU Jia‑xi, YU Meng, ZHANG Wei, YUAN Yun, DENG Jian‑wen, WANG Zhao‑xia   +5 more
doaj   +1 more source

Macroorchidism in FMR1 knockout mice is caused by increased Sertoli cell proliferation during testicular development [PDF]

, 1998
The fragile X syndrome is the most frequent hereditary form of mental retardation. This X-linked disorder is, in most cases, caused by an unstable and expanding trinucleotide CGG repeat located in the 5'-untranslated region ...
Bakker, C.E. (Cathy), Grootegoed, J.A. (Anton), Kant, H.J.G. (Henk) van de, Oostra, B.A. (Ben), Rooij, D.G. de, Slegtenhorst-Eegdeman, K.E., Themmen, A.P.N. (Axel), Verhoef-Post, M. (Miriam)   +7 more
core   +13 more sources

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

Brain : a journal of neurology, 2021
Oculopharyngodistal myopathy (OPDM) is associated with trinucleotide repeat expansions in LRP12 or GIPC1, but the genetic basis of many cases remains unknown. Yu et al.
Jiaxi Yu, Jianwen Deng, Xueyu Guo, Jingli Shan, X. Luan, L. Cao, Juan Zhao, Meng Yu, Wei Zhang, H. Lv, Zhiying Xie, L. Meng, Yiming Zheng, Yawen Zhao, Q. Gang, Qingqing Wang, Jing Liu, Min Zhu, Binbin Zhou, Pidong Li, Yinzhe Liu, Yang Wang, Chuanzhu Yan, D. Hong, Yun Yuan, Zhaoxia Wang   +25 more
semanticscholar   +1 more source

Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

Genome Medicine, 2017
Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably.
Qian Liu, Peng Zhang, Depeng Wang, Weihong Gu, Kai Wang   +4 more
doaj   +1 more source

DNA repair in the trinucleotide repeat disorders [PDF]

, 2017
Background Inherited diseases caused by unstable repeated DNA sequences are rare, but together represent a substantial cause of morbidity. Trinucleotide repeat disorders are severe, usually life-shortening, neurological disorders caused by nucleotide ...
Houlden, Henry, Jones, Lesley, Tabrizi, Sarah J.   +2 more
core   +2 more sources

GFP-based fluorescence assay for CAG repeat instability in cultured human cells. [PDF]

PLoS ONE, 2014
Trinucleotide repeats can be highly unstable, mutating far more frequently than point mutations. Repeats typically mutate by addition or loss of units of the repeat.
Beatriz A Santillan, Christopher Moye, David Mittelman, John H Wilson   +3 more
doaj   +1 more source

Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

Frontiers in Genetics, 2022
Microsatellites are repeated DNA sequences of 3–6 nucleotides highly variable in length and sequence and that have important roles in genomes regulation and evolution.
Manon Boivin, N. Charlet-Berguerand
semanticscholar   +1 more source

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases. [PDF]

PLoS ONE, 2017
Fuchs' endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the ...
Abraham Kuot, Alex W Hewitt, Grant R Snibson, Emmanuelle Souzeau, Richard Mills, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma   +7 more
doaj   +1 more source

Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy

PLoS ONE, 2021
Expansion of CTG trinucleotide repeats (TNR) in the transcription factor 4 (TCF4) gene is highly associated with Fuchs Endothelial Corneal Dystrophy (FECD).
E. Wieben, R. Aleff, T. Rinkoski, K. Baratz, Shubham Basu, Sanjay V. Patel, L. Maguire, M. Fautsch   +7 more
semanticscholar   +1 more source

CAG Repeat Instability in the Peripheral and Central Nervous System of Transgenic Huntington’s Disease Monkeys

Biomedicines, 2022
Huntington’s Disease (HD) is an autosomal dominant disease that results in severe neurodegeneration with no cure. HD is caused by the expanded CAG trinucleotide repeat (TNR) on the Huntingtin gene (HTT). Although the somatic and germline expansion of the
In K. Cho, Faye Clever, Gordon Hong, Anthony W. S. Chan   +3 more
doaj   +1 more source