Results 141 to 150 of about 19,593 (221)

Tandem MutSβ binding to long extruded DNA trinucleotide repeats underpins pathogenic expansions [PDF]

, 2023
Jun Li, Huaibin Wang, Wei Yang
openalex   +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

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

Fragile X syndrome. [PDF]

, 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián, Forero-Forero, Jose Vicente, González-Teshima, Laura Yuriko, Hagerman, Randi, Saldarriaga, Wilmar, Tassone, Flora   +5 more
core   +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  

Erratum: The use of high-resolution melting techniques for mutation screening of diseases caused by trinucleotide repeats expansion, with emphasis on the <em> AR </em> gene

, 2020
Achmad Zulfa Juniarto, Mahayu Dewi Ariani, Stefani Harumsari, Nurin Aisyiyah Listyasari, Hardian Hardian, Agustini Utari, Sultana MH Faradz   +6 more
openalex   +2 more sources

A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]

, 2008
Ikeda, Yoshio, Jackson, Mandy, Kawarabayashi, Takeshi, Kimura, Tamaki, Matsubara, Etsuro, Miki, Yasuo, Monai, Natsuki, Seino, Yusuke, Shoji, Mikio, Suzuki, Chieko, Tomiyama, Masahiko, Wakasaya, Yasuhito, Watanabe, Mitsunori, Yamamoto-Watanabe, Yukiko   +13 more
core   +1 more source

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

Msh2-Msh3 DNA-binding is not sufficient to promote trinucleotide repeat expansions in Saccharomyces cerevisiae [PDF]

K. Casazza, Gregory M. Williams, Lauren Johengen, Gavin Twoey, Jennifer A. Surtees   +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