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Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from C9ORF72 is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Zusätzlich bieten wir Ihnen C9ORF72 Proteine (4) und und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal C9ORF72 Primary Antibody für ICC, IF - ABIN4286688
Snowden, Rollinson, Thompson, Harris, Stopford, Richardson, Jones, Gerhard, Davidson, Robinson, Gibbons, Hu, DuPlessis, Neary, Mann, Pickering-Brown: Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. in Brain : a journal of neurology 2012
Show all 4 Pubmed References
The chromosome 9 open reading frame 72 (c9orf72) gene contains a hexanucleotide (GGGGCC) repeat expansion responsible for many cases of amyotrophic lateral sclerosis (ALS (zeige IGFALS Antikörper)) and frontotemporal dementia (FTD (zeige FTL Antikörper)).
Psychotic symptoms in frontotemporal dementia with the C9orf72 gene expansion.
Intronic repeat expansions in C9orf72 not observed in Iranian Parkinson's disease patients.
Diffuse atrophy is a common underlying feature of disease associated with C9orf72 mutations.
C9orf72 repeat expansions are not causally associated with dementia with lewy body.
Repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene have been recognized as a major contributor to amyotrophic lateral sclerosis.
The findings of this study suggested that presymptomatic C9ORF72 expansion carriers exhibit functionally compensated brain volume and connectivity deficits that are similar, though less severe, to those reported during the symptomatic phase.
Study describes the identification of two binding partners for C9orf72: SMCR8 and WDR41 and demonstrated that C9orf72/SMCR8/WDR41 interacts with the FIP200 (zeige RB1CC1 Antikörper)/Ulk1 (zeige ULK1 Antikörper)/ATG13 (zeige ATG13 Antikörper)/ATG101 (zeige C12orf44 Antikörper) complex.
This study showed that the C9orf72 expansion is not a common genetic finding in unselected suicide victims.
C9orf72 mutation is infrequently associated with ALS (zeige IGFALS Antikörper) in Han Chinese patients and suggest that a splice site mutation in C9orf72 may lead to loss of function due to haploinsufficiency of the resulting protein.
Expansion of a hexanucleotide repeat in non-coding sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Multiple transcript variants encoding different isoforms have been found for this gene.