Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Nucleotide repeat"'
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Due to the high clinical heterogeneity of neuronal intranuclear inclusion disease (NIID), it is easy to misdiagnose this condition and is considered to be a rare progressive neurodegenerative disease. More evidence demonstrates that NIID involves not
Externí odkaz:
https://doaj.org/article/4729a0d3d12e4a3c9f1490c6d1cd3235
Autor:
Lise Barbé, Steve Finkbeiner
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Repeat diseases, such as fragile X syndrome, myotonic dystrophy, Friedreich ataxia, Huntington disease, spinocerebellar ataxias, and some forms of amyotrophic lateral sclerosis, are caused by repetitive DNA sequences that are expanded in affected ind
Externí odkaz:
https://doaj.org/article/602c0c9c94694c42a34d27589352500d
Autor:
Xiaorong Hou, Wanzhen Li, Pan Liu, Zhen Liu, Yanchun Yuan, Jie Ni, Lu Shen, Beisha Tang, Junling Wang
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundRepeat expansions, including those in C9orf72 and ATXN2, have been implicated in amyotrophic lateral sclerosis (ALS). However, there have been few studies on the association of AR and NOP56 repeat expansion with ALS, especially in China. Ac
Externí odkaz:
https://doaj.org/article/94dcefdef93f4bf38436ad8da4bb14a2
Publikováno v:
Brain Sciences, Vol 13, Iss 1, p 85 (2023)
GGC repeat expansions in the 5’ untranslated region (5’UTR) of the Notch Homolog 2 N-terminal-like C gene (NOTCH2NLC) have been reported to be the genetic cause of neuronal intranuclear inclusion disease (NIID). However, whether they exist in oth
Externí odkaz:
https://doaj.org/article/70e3c6aedaa74a76a976e0453d750bb1
Publikováno v:
Neurobiology of Disease, Vol 157, Iss , Pp 105427- (2021)
CGG expansions between 55 and 200 in the 5′-untranslated region of the fragile-X mental retardation gene (FMR1) increase the risk of developing the late-onset debilitating neuromuscular disease Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). W
Externí odkaz:
https://doaj.org/article/09d70d1e4d114b5a8f3f9f49b80312d1
Akademický článek
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Autor:
Jill M. Haenfler, Geena Skariah, Caitlin M. Rodriguez, Andre Monteiro da Rocha, Jack M. Parent, Gary D. Smith, Peter K. Todd
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and autism. It results from expansion of a CGG nucleotide repeat in the 5′ untranslated region (UTR) of FMR1. Large expansions elicit repeat and promoter hyper-m
Externí odkaz:
https://doaj.org/article/51d2a59766964b4fb80cf15d790eed9c
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Eukaryote ribosomal RNAs (rRNAs) have expanded in the course of phylogeny by addition of nucleotides in specific insertion areas, the expansion segments. These number about 40 in the larger (25–28S) rRNA (up to 2,400 nucleotides), and about 12 in t
Externí odkaz:
https://doaj.org/article/913687d3290747dfa4ae2b64e79112d4
Publikováno v:
FEBS Open Bio, Vol 5, Iss 1, Pp 864-876 (2015)
Ribosomal RNAs in both prokaryotes and eukaryotes feature numerous repeats of three or more nucleotides with the same nucleobase (homoiterons). In prokaryotes these repeats are much more frequent in thermophile compared to mesophile or psychrophile s
Externí odkaz:
https://doaj.org/article/932a75ff5988473d97c98f1cbe24fdda
Autor:
Mohammad Saad Zaghloul Salem
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 15, Iss 4, Pp 409-415 (2014)
Externí odkaz:
https://doaj.org/article/b15a46a5c228438a95e0ce20cbcfb4dd