Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateParkin mono-ubiquitinates Bcl-2 and regulates autophagyLewy bodies and parkinsonism in families with parkin mutationsYounger age at onset of sporadic Parkinson's disease among subjects occupationally exposed to metals and pesticidesParkin-deficient mice are not a robust model of parkinsonism.Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approachSignificance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonismMechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell linesPhase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.How much phenotypic variation can be attributed to parkin genotype?Inflammasome activation leads to Caspase-1-dependent mitochondrial damage and block of mitophagy.Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.Genetics of Parkinson disease.Molecular pathogenesis of Parkinson disease: insights from genetic studies.Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.Twenty years since the discovery of the parkin gene.Parkinson's disease: genetics and beyond.Parkin gene alterations in hepatocellular carcinoma.Inactivation of parkin by oxidative stress and C-terminal truncations: a protective role of molecular chaperones.Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 MutationsDual Function of Phosphoubiquitin in E3 Activation of Parkin.Mutations in the Parkinson's Disease-Associated PARK2 Gene Are Accompanied by Imbalance in Programmed Cell Death Systems.Identification of a novel Zn2+-binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population.Allelic loss of 6q25-27, the PARKIN tumor suppressor gene locus, in cervical carcinoma.Genetic and epigenetic alterations affecting PARK-2 expression in cervical neoplasm among North Indian patients.High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease.Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's diseaseParkin-dependent regulation of the MCU complex component MICU1
P2860
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P2860
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
Origin of the mutations in the ...... y result from Founder effects.
@en
Origin of the mutations in the ...... y result from Founder effects.
@nl
type
label
Origin of the mutations in the ...... y result from Founder effects.
@en
Origin of the mutations in the ...... y result from Founder effects.
@nl
prefLabel
Origin of the mutations in the ...... y result from Founder effects.
@en
Origin of the mutations in the ...... y result from Founder effects.
@nl
P2093
P2860
P50
P356
P1476
Origin of the mutations in the ...... y result from Founder effects.
@en
P2093
C Brefel-Courbon
French Parkinson's Disease Gen ...... ibility in Parkinson's Disease
G De Michele
M Horstink
M M Breteler
M Periquet
P2860
P304
P356
10.1086/318791
P407
P577
2001-02-14T00:00:00Z