Zobrazeno 1 - 10
of 73
pro vyhledávání: '"expansion mutation"'
Autor:
Lauren Matelski, Kimberly P. Keil Stietz, Sunjay Sethi, Sandra L. Taylor, Judy Van de Water, Pamela J. Lein
Publikováno v:
Current Research in Toxicology, Vol 1, Iss , Pp 85-103 (2020)
Polychlorinated biphenyls (PCBs) are pervasive environmental contaminants implicated as risk factors for neurodevelopmental disorders (NDDs). Immune dysregulation is another NDD risk factor, and developmental PCB exposures are associated with early l
Externí odkaz:
https://doaj.org/article/ab9b39b69def40d6987d2d6d765c70cd
Autor:
Mfon E Umoh, Eric B Dammer, Jingting Dai, Duc M Duong, James J Lah, Allan I Levey, Marla Gearing, Jonathan D Glass, Nicholas T Seyfried
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 1, Pp 48-62 (2017)
Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with overlap in clinical presentation, neuropathology, and genetic underpinnings. The molecular basis for the overlap of these disorders is
Externí odkaz:
https://doaj.org/article/b8b7499dd4d9446c941b6c08b5f8bee4
Publikováno v:
Cells, Vol 10, Iss 2, p 249 (2021)
Since the discovery of the chromosome 9 open reading frame 72 (C9orf72) repeat expansion mutation in 2011 as the most common genetic abnormality in amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease) and frontotemporal dementia
Externí odkaz:
https://doaj.org/article/8a002479f86d4af393ef6712ef3e0c32
Autor:
Sunjay Sethi, Sandra L. Taylor, Lauren Matelski, Pamela J. Lein, Kimberly P. Keil Stietz, Judy Van de Water
Publikováno v:
Current Research in Toxicology
Current Research in Toxicology, Vol 1, Iss, Pp 85-103 (2020)
Current Research in Toxicology, Vol 1, Iss, Pp 85-103 (2020)
Polychlorinated biphenyls (PCBs) are pervasive environmental contaminants implicated as risk factors for neurodevelopmental disorders (NDDs). Immune dysregulation is another NDD risk factor, and developmental PCB exposures are associated with early l
Publikováno v:
Cells, Vol 10, Iss 249, p 249 (2021)
Cells
Cells
Since the discovery of the chromosome 9 open reading frame 72 (C9orf72) repeat expansion mutation in 2011 as the most common genetic abnormality in amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease) and frontotemporal dementia
Autor:
Scott J. Loev, Russell L. Margolis, W.Scott Young, Shi-Hua Li, Gabriele Schilling, Roxann G. Ashworth, Christopher A. Ross
Publikováno v:
Neurobiology of Disease, Vol 2, Iss 3, Pp 129-138 (1995)
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare, progressive, fatal neuropsychiatric disorder similar to Huntington's disease, caused by an expansion of a CAG trinucleotide repeat encoding glutamine. We have cloned the cDNA of the rat homologu
Externí odkaz:
https://doaj.org/article/ad5e61f6358841139b15e0904563f3a3
Autor:
Allan I. Levey, Jingting Dai, Nicholas T. Seyfried, Jonathan D. Glass, Duc M. Duong, Mfon E. Umoh, Eric B. Dammer, Marla Gearing, James J. Lah
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 1, Pp 48-62 (2018)
EMBO Molecular Medicine
EMBO Molecular Medicine
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases with overlap in clinical presentation, neuropathology, and genetic underpinnings. The molecular basis for the overlap of these disorders is not well
Akademický článek
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Autor:
Tuccillo M, Mangano E, Verrillo L, Poeta L, Consolandi C, Padula A, Franco C, Drongitis D, Mallardo M, Cervicato G, Canzoniero L M T, Bordoni R, Miano MG.
Publikováno v:
EMBO Workshop-From epigenome towards epitranscriptome in cell fate choice, Capri, Nplaes, Italy, 14-17 October 2018
info:cnr-pdr/source/autori:Tuccillo M, Mangano E, Verrillo L, Poeta L, Consolandi C, Padula A, Franco C, Drongitis D, Mallardo M, Cervicato G, Canzoniero L M T, Bordoni R, Miano MG./congresso_nome:EMBO Workshop-From epigenome towards epitranscriptome in cell fate choice/congresso_luogo:Capri, Nplaes, Italy/congresso_data:14-17 October 2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine
info:cnr-pdr/source/autori:Tuccillo M, Mangano E, Verrillo L, Poeta L, Consolandi C, Padula A, Franco C, Drongitis D, Mallardo M, Cervicato G, Canzoniero L M T, Bordoni R, Miano MG./congresso_nome:EMBO Workshop-From epigenome towards epitranscriptome in cell fate choice/congresso_luogo:Capri, Nplaes, Italy/congresso_data:14-17 October 2018/anno:2018/pagina_da:/pagina_a:/intervallo_pagine
The X-linked Aristaless-related homeobox gene (ARX) encodes an interneuron-specific transcription factor (TF) with a key role in mammalian corticogenesis and GABAergic sub-type specification. Elongations in two of its four polyalanine (PolyA) tracts
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::c08c714cc21955e487e3dbf4bb7a21cf
http://www.cnr.it/prodotto/i/434897
http://www.cnr.it/prodotto/i/434897
Akademický článek
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