Results 31 to 40 of about 33,292 (260)

Androgen receptor CAG polymorphism and the risk of benign prostatic hyperplasia in a Brazilian population

International Brazilian Journal of Urology, 2012
Benign prostatic hyperplasia (BPH) is a very frequent age-related proliferative abnormality in men. Polymorphic CAG repeat in the androgen receptor (AR) can alter transactivation of androgen-responsive genes and potentially influence BPH risk.
Vanderlei Biolchi, Brasil Silva Neto, Walter Koff, Ilma Simoni Brum   +3 more
doaj   +1 more source

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

Neurobiology of Disease, 2009
Modifying the length of the Huntington's disease (HD) CAG repeat, the major determinant of age of disease onset, is an attractive therapeutic approach.
Ella Dragileva, Audrey Hendricks, Allison Teed, Tammy Gillis, Edith T. Lopez, Errol C. Friedberg, Raju Kucherlapati, Winfried Edelmann, Kathryn L. Lunetta, Marcy E. MacDonald, Vanessa C. Wheeler   +10 more
doaj   +1 more source

CAG repeat variants in the POLG1 gene encoding mtDNA polymerase-gamma and risk of breast cancer in African-American women. [PDF]

PLoS ONE, 2012
The DNA polymerase-gamma (POLG) gene, which encodes the catalytic subunit of enzyme responsible for directing mitochondrial DNA replication in humans, contains a polyglutamine tract encoded by CAG repeats of varying length.
Sami Azrak, Vanniarajan Ayyasamy, Gary Zirpoli, Christine Ambrosone, Elisa V Bandera, Dana H Bovbjerg, Lina Jandorf, Gregory Ciupak, Warren Davis, Karen S Pawlish, Ping Liang, Keshav Singh   +11 more
doaj   +1 more source

CAG repeat length does not associate with the rate of cerebellar degeneration in spinocerebellar ataxia type 3

NeuroImage: Clinical, 2017
This cross-sectional study investigated the correlation between the CAG repeat length and the degeneration of cerebellum in spinocerebellar ataxia type 3 (SCA3) patients based on neuroimaging approaches.
Shang-Ran Huang, Yu-Te Wu, Chii-Wen Jao, Bing-Wen Soong, Jiing-Feng Lirng, Hsiu-Mei Wu, Po-Shan Wang   +6 more
doaj   +1 more source

An Expanded CAG Repeat in Huntingtin Causes +1 Frameshifting [PDF]

Journal of Biological Chemistry, 2016
Maintenance of triplet decoding is crucial for the expression of functional protein because deviations either into the -1 or +1 reading frames are often non-functional. We report here that expression of huntingtin (Htt) exon 1 with expanded CAG repeats, implicated in Huntington pathology, undergoes a sporadic +1 frameshift to generate from the CAG ...
Saffert, Paul, Adamla, Frauke, Schieweck, Rico, Atkins, John F., Ignatova, Zoya (Prof. Dr.)   +4 more
openaire   +4 more sources

Characterization of Four Novel CAG Repeat-Containing cDNAs [PDF]

Genomics, 1995
Stretches of CAG nucleotides coding for the amino acid glutamine are an important feature of many transcription factors and genes that are involved in neurodegenerative disorders. In an attempt to isolate CAG repeat-containing cDNAs expressed in nervous tissue, we screened a human fetal brain cDNA library with a probe containing a CAG repeat.
Jiang, Jin Xing, Lekanne deprez, Ronald H., Zwarthoff, Ellen C., Riegman, Peter H.J.   +3 more
openaire   +3 more sources

Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington’s disease

eLife
An expanded CAG repeat in the huntingtin gene (HTT) causes Huntington’s disease (HD). Since the length of uninterrupted CAG repeat, not polyglutamine, determines the age-at-onset in HD, base editing strategies to convert CAG to CAA are anticipated to ...
Doo Eun Choi, Jun Wan Shin, Sophia Zeng, Eun Pyo Hong, Jae-Hyun Jang, Jacob M Loupe, Vanessa C Wheeler, Hannah E Stutzman, Ben Kleinstiver, Jong-Min Lee   +9 more
doaj   +1 more source

Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. [PDF]

PLoS Genetics, 2011
More than 20 human neurological and neurodegenerative diseases are caused by simple DNA repeat expansions; among these, non-coding CTG repeat expansions are the basis of myotonic dystrophy (DM1).
Zhenming Yu, Xiuyin Teng, Nancy M Bonini
doaj   +1 more source

Integrated analysis on transcriptome and behaviors defines HTT repeat-dependent network modules in Huntington's disease

Genes and Diseases, 2022
Huntington's disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene. Knock-in mice carrying a CAG repeat-expanded Htt will develop HD phenotypes.
Lulin Huang, Li Fang, Qian Liu, Abolfazl Doostparast Torshizi, Kai Wang   +4 more
doaj   +1 more source

Mouse Models of Human CAG Repeat Disorders

Brain Pathology, 1997
Expansions of CAG trinucleotide repeats encoding glutamine have been found to be the causative mutations of seven human neurodegenerative diseases. Similarities in the clinical, genetic, and molecular features of these disorders suggest they share a common mechanism of pathogenesis.
E N, Burright, H T, Orr, H B, Clark
openaire   +3 more sources