An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)
about
Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exonSplicing in action: assessing disease causing sequence changesMutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variantsCongenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteinsGenomic features defining exonic variants that modulate splicing.The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.The congenital disorders of glycosylation: a multifaceted group of syndromes.Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.The role of nucleotide composition in premature termination codon recognition.Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Congenital protein hypoglycosylation diseases.Soluble corticotropin-releasing hormone receptor 2alpha splice variant is efficiently translated but not trafficked for secretion.Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.Identification of the gene encoding the alpha1,3-mannosyltransferase (ALG3) in Arabidopsis and characterization of downstream n-glycan processing.
P2860
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P2860
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@ast
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@en
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@nl
type
label
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@ast
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@en
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@nl
prefLabel
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@ast
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@en
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@nl
P2093
P2860
P356
P1433
P1476
An activated 5' cryptic splice ...... glycosylation type Id (CDG-Id)
@en
P2093
Christian Kranz
Dirk Kemming
Hans-Georg Koch
Jonas Denecke
Thorsten Marquardt
P2860
P304
P356
10.1002/HUMU.20026
P407
P577
2004-05-01T00:00:00Z