Results 1 to 10 of about 204,221 (349)

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

Cell, 2019
Summary Variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted HTT CAG repeat sequence, distinct from the length of huntingtin’s polyglutamine segment, dictates the rate at which Huntington’s disease (HD) develops ...
Jong-Min Lee, Branduff McAllister, Ricardo Mouro Pinto   +2 more
exaly   +2 more sources

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

American Journal of Human Genetics, 2019
Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene. Although the length of this repeat is inversely correlated with age of onset (AOO), it does not fully explain the variability in AOO.
Michael R Hayden, Cassandra McDonald, Ryan K C Yuen   +2 more
exaly   +2 more sources

tRF‐Leu‐CAG promotes cell proliferation and cell cycle in non‐small cell lung cancer

Chemical Biology and Drug Design, 2017
tRNA‐derived RNA fragments (tRFs), non‐coding single‐stranded RNAs with 14–35 nt in length, were found to play important roles in gene regulation, even in carcinogenesis.
Yang Shao, Zhong-Liang Ma, Xiaomin Liu   +2 more
exaly   +2 more sources

Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD mice

Cell
SUMMARY Huntington’s disease (HD) modifiers include mismatch repair (MMR) genes but their connections to neuronal pathogenesis remains unclear. Here we genetically tested 9 HD GWAS/MMR genes in mutant Huntingtin (mHtt) mice with 140 inherited CAG-repeats
X William Yang, Thomas F Vogt, Jim Rosinski   +2 more
exaly   +2 more sources

The correlation between circulating antigen in urine and the intensity of Schistosoma haematobium infection [PDF]

Journal of Medical and Life Science, 2020
Background: There are two methods for diagnosis of schistosomiasis, parasitological(microscopic detection of eggs), and/or immunological methods (antibody and antigen detection), due to the decreasing and elimination of Schistosomiasis infection in many ...
Ahmed Yameny
doaj   +1 more source

Analysis on risk factors and characteristics of coronary angiography in young men with CHD [PDF]

Journal of Men's Health, 2023
To examine the risk factors associated with coronary heart disease (CHD) in young males and assess the distinctive features of coronary angiography (CAG).
Xuhang Hua, Bo Chen, Yongchao Dong
doaj   +1 more source

Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing

Biomarker Research, 2022
Background Children with birth defects (BD) are more likely to develop cancer and the increased risk of cancer persists into adulthood. Prior population-based assessments have demonstrated that even non-chromosomal BDs are associated with at least two ...
Yichuan Liu, Hui-Qi Qu, Xiao Chang, Frank D Mentch, Haijun Qiu, Kenny Nguyen, Xiang Wang, Amir Hossein Saeidian, Deborah Watson, Joseph Glessner, Hakon Hakonarson   +10 more
doaj   +1 more source

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development

Molecular Cancer, 2023
Children with birth defects (BD) express distinct clinical features that often have various medical consequences, one of which is predisposition to the development of cancers. Identification of the underlying genetic mechanisms related to the development
Yichuan Liu, Hui-Qi Qu, Xiao Chang, Frank D Mentch, Haijun Qiu, Xiang Wang, Amir Hossein Saeidian, Deborah Watson, Joseph Glessner, Hakon Hakonarson   +9 more
doaj   +1 more source

m1A in CAG repeat RNA binds to TDP-43 and induces neurodegeneration

Nature, 2023
TDP-43 binds to N ^1-methyladenosine on CAG repeat RNA, resulting in the formation of gel-like TDP-43 aggregates in the cytoplasm that resemble those observed in neurological disease pathology.
Yuxiang Sun, Hui Dai, Xiao-Xia Dai, Jiekai Yin, Yuxiang Cui, Xiaochuan Liu, G. Gonzalez, Jun Yuan, Feng Tang, Nan Wang, Alexandra E. Perlegos, N. Bonini, X. W. Yang, Weifeng Gu, Yin-Sheng Wang   +14 more
semanticscholar   +1 more source

A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease

bioRxiv, 2023
The Huntington’s disease mutation is a CAG repeat expansion in the huntingtin gene that results in an expanded polyglutamine tract in the huntingtin protein.
Sarah G. Aldous, Edward J Smith, C. Landles, Georgina F. Osborne, María Cañibano-Pico, Iulia M. Nita, Jemima Phillips, Yongwei Zhang, Bo Jin, Marissa B Hirst, C. Benn, Brian C Bond, Winfried Edelmann, Jonathan R. Greene, Gillian P. Bates   +14 more
semanticscholar   +1 more source