Results 41 to 50 of about 204,221 (349)

Assessment of simple sequence repeats signature in hepatitis E virus (HEV) genomes

Journal of Genetic Engineering and Biotechnology, 2022
Background Hepatitis E virus (HEV) is small (27–34 nm diameter) non-enveloped with positive sense ssRNA genome. Microsatellites or simple sequence repeats (SSR) are short tandem repeat sequences present across coding and non-coding regions of both ...
Md Gulam Jilani, Safdar Ali
doaj   +1 more source

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out

Human Molecular Genetics, 2020
Recent genome-wide association studies of age-at-onset in Huntington’s disease (HD) point to distinct modes of potential disease modification: altering the rate of somatic expansion of the HTT CAG repeat or altering the resulting CAG threshold length ...
Jacob M. Loupe, R. M. Pinto, Kyung-Hee Kim, T. Gillis, J. Mysore, M. Andrew, Marina Kovalenko, Ryan Murtha, I. Seong, J. Gusella, Seung Kwak, D. Howland, R. Lee, Jong-Min Lee, V. Wheeler, M. MacDonald   +15 more
semanticscholar   +1 more source

Dynamics of strand slippage in DNA hairpins formed by CAG repeats: roles of sequence parity and trinucleotide interrupts

Nucleic Acids Research, 2020
DNA trinucleotide repeats (TRs) can exhibit dynamic expansions by integer numbers of trinucleotides that lead to neurodegenerative disorders. Strand slipped hairpins during DNA replication, repair and/or recombination may contribute to TR expansion. Here,
Pengning Xu, Feng Pan, C. Roland, C. Sagui, K. Weninger   +4 more
semanticscholar   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Lopes-Cendes, Iscia, Odile Russaouen, Cécile Cazeneuve, Cazeneuve, Cécile, Walker R.H., Russaouen O., Bader B., Guilherme Riccioppo Rodrigues, Brice A., Russaouen, Odile, Tumas, Vitor, Wilson Marques Jr., Rodrigues G.R., Iscia Lopes-Cendes, Danek, Adrian, Adrian Danek, MARQUES JR., Wilson, Brice, Alexis, Marques Jr. W., Marques, Wilson, Vitor Tumas, Walker, Ruth H., Bader, Benedikt, Benedikt Bader, Danek A., Cazeneuve C., Ruth H. Walker, Riccioppo Rodrigues, Guilherme, RODRIGUES, Guilherme Riccioppo, Alexis Brice, Tumas V., Lopes-Cendes I.   +31 more
core   +1 more source

In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease

Nature Genetics
Huntington’s disease, one of more than 50 inherited repeat expansion disorders1, is a dominantly inherited neurodegenerative disease caused by a CAG expansion in HTT2.
R. M. Pinto, Ryan Murtha, A. Azevedo, Cameron Douglas, Marina Kovalenko, Jessica Ulloa, Steven Crescenti, Zoe Burch, Esaria Oliver, M. Kesavan, S. Shibata, Antonia Vitalo, Eduarda Mota-Silva, Marion J Riggs, Kevin Correia, Emanuela Elezi, Brigitte Demelo, Jeffrey B. Carroll, T. Gillis, J. Gusella, M. Macdonald, V. Wheeler   +21 more
semanticscholar   +1 more source

The CAG promoter maintains high‐level transgene expression in HEK293 cells

FEBS Open Bio, 2020
The vast majority of therapeutic recombinant proteins are produced in mammalian cell lines. However, proteins generated in nonhuman cell lines, such as Chinese hamster ovary (CHO) cells, are decorated with human‐like glycan structures that differ from ...
Yuan-yuan Dou, Yan Lin, Tian-Yun Wang, Xiao-Yin Wang, Yan-Long Jia, Chun-peng Zhao   +5 more
semanticscholar   +1 more source

Helicobacter pylori-induced histone modification, associated gene expression in gastric epithelial cells, and its implication in pathogenesis. [PDF]

, 2010
Histone modifications are critical in regulating gene expression, cell cycle, cell proliferation, and development. Relatively few studies have investigated whether Helicobacter pylori, the major cause of human gastric diseases, affects histone ...
Haas, Rainer, Rainer Haas, Grant, Patrick, Kaparakis-Liaskos, Maria, Hass, Rainer, Sheila E Crowe, Patrick A. Grant, Crowe, Sheila E., Crowe Sheila E., Liechti, George, Ferrero, Richard L., Richard L. Ferrero, D. Scott Merrell, Kaparakis-Liaskos Maria, Merrell, D. Scott, Wolfgang Fischer, Fischer, Wolfgang, Liechti George, Ferrero Richard L., Ding, Song-Ze, Goldberg Joanna B., Song-Ze Ding, Ding Song-Ze, George Liechti, Patrick A Grant, Crowe, Sheila, Goldberg, Joanna, Fischer Wolfgang, Joanna B Goldberg, D Scott Merrell, Hatakeyama, Masanori, Ferrero, Richard, Merrell D. Scott, Haas Rainer, Joanna B. Goldberg, Goldberg, Joanna B., Richard L Ferrero, Sheila E. Crowe, Masanori Hatakeyama, Grant Patrick A., Hatakeyama Masanori, Grant, Patrick A., Liaskos, Maria, Maria Kaparakis-Liaskos   +43 more
core   +1 more source

Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington’s disease decades before clinical motor diagnosis

Nature Medicine
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact
R. Scahill, M. Farag, M. Murphy, Nicola Z. Hobbs, Michela Leocadi, Christelle Langley, Harry Knights, Marc Ciosi, Kate Fayer, M. Nakajima, O. Thackeray, J. Gobom, John Rönnholm, Sophia Weiner, Y. Hassan, N. K. Ponraj, C. Estévez-Fraga, C. Parker, I. Malone, H. Hyare, Jeffrey D. Long, A. Heslegrave, Cristina Sampaio, Hui Zhang, Trevor W. Robbins, H. Zetterberg, E. Wild, G. Rees, J. Rowe, B. Sahakian, D. Monckton, D. Langbehn, Sarah J. Tabrizi   +32 more
semanticscholar   +1 more source

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range

Genetics in Medicine, 2020
In some Huntington disease (HD) patients, the “loss of interruption” (LOI) variant eliminates an interrupting codon in the HTT CAG-repeat tract, which causes earlier age of onset (AOO).
Hailey Findlay Black, Galen E. B. Wright, J. Collins, N. Caron, C. Kay, Q. Xia, L. Arning, E. Bijlsma, F. Squitieri, H. Nguyen, M. Hayden   +10 more
semanticscholar   +1 more source

Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum

Nature Genetics
Brain region-specific degeneration and somatic expansions of the mutant Huntingtin (mHTT) CAG tract are key features of Huntington’s disease (HD).
K. Mätlik, Matthew Baffuto, Laura Kus, A. L. Deshmukh, David A. Davis, M. Paul, Thomas S. Carroll, Marie-christine Caron, Jean-Yves Masson, Christopher E. Pearson, Nathaniel Heintz   +10 more
semanticscholar   +1 more source