Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. - Wikidata - awgldk - TriplyDB

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

http://www.wikidata.org/entity/Q34381669

about

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Mechanisms of granulin deficiency: lessons from cellular and animal models Potential roles of microglial cell progranulin in HIV-associated CNS pathologies and neurocognitive impairment Progranulin: at the interface of neurodegenerative and metabolic diseases Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency Multiancestral analysis of inflammation-related genetic variants and C-reactive protein in the population architecture using genomics and epidemiology study.Progranulin protein levels are differently regulated in plasma and CSF.C-terminus of progranulin interacts with the beta-propeller region of sortilin to regulate progranulin trafficking.Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations.TDP-43 in aging and Alzheimer's disease - a review Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review.Massive accumulation of luminal protease-deficient axonal lysosomes at Alzheimer's disease amyloid plaques Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration.Progranulin regulates neuronal outgrowth independent of sortilin Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor.TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.Vps10 family proteins and the retromer complex in aging-related neurodegeneration and diabetes.Advances in understanding the molecular basis of frontotemporal dementia.Progranulin: an emerging target for FTLD therapies.Progranulin does not bind tumor necrosis factor (TNF) receptors and is not a direct regulator of TNF-dependent signaling or bioactivity in immune or neuronal cells.The regulated secretory pathway and human disease: insights from gene variants and single nucleotide polymorphisms.Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.EphA2 is a functional receptor for the growth factor progranulin.Glucose deprivation regulates the progranulin-sortilin axis in PC12 cells.Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.Mechanisms of toxicity in C9FTLD/ALS.Cellular effects of progranulin in health and disease.Human genetics as a tool to identify progranulin regulators.Structure, function, and mechanism of progranulin; the brain and beyond.Progranulin and TDP-43: mechanistic links and future directions.Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.Progranulin axis and recent developments in frontotemporal lobar degeneration Sortilin and SorLA regulate neuronal sorting of trophic and dementia-linked proteins.Frontotemporal lobar degeneration: current knowledge and future challenges.Recent insights into the involvement of progranulin in frontotemporal dementia.Progranulin: a novel regulator of gastrointestinal cancer progression.Sorting receptor sortilin-a culprit in cardiovascular and neurological diseases.

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Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.

http://www.wikidata.org/entity/Q34381669

description

2010 nî lūn-bûn

@nan

2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի նոյեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Genome-wide screen identifies ...... anulin levels in human plasma.

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Genome-wide screen identifies ...... anulin levels in human plasma.

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Genome-wide screen identifies ...... anulin levels in human plasma.

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type

label

Genome-wide screen identifies ...... anulin levels in human plasma.

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Genome-wide screen identifies ...... anulin levels in human plasma.

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Genome-wide screen identifies ...... anulin levels in human plasma.

@nl

prefLabel

Genome-wide screen identifies ...... anulin levels in human plasma.

@ast

Genome-wide screen identifies ...... anulin levels in human plasma.

@en

Genome-wide screen identifies ...... anulin levels in human plasma.

@nl

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J.AJHG.2010.11.002

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American Journal of Human Genetics

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Genome-wide screen identifies ...... anulin levels in human plasma.

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Alexandra M Nicholson

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Dena Hernandez

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Gina D Bisceglio

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Ian R Mackenzie

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J Raphael Gibbs

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Julia E Crook

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Matt Baker

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Minerva M Carrasquillo

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Neill R Graff-Radford

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NiCole Finch

http://www.w3.org/2001/XMLSchema#string

P2860

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

The 100-kDa neurotensin receptor is gp95/sortilin, a non-G-protein-coupled receptor

Sortilin is essential for proNGF-induced neuronal cell death

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

PLINK: a tool set for whole-genome association and population-based linkage analyses

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography

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890-897

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scholarly article

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10.1016/J.AJHG.2010.11.002

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6

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87

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Rosa Rademakers

Allissa Dillman

Mariely DeJesus-Hernandez

Andrew Singleton

Ronald C. Petersen

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2010-11-18T00:00:00Z

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47814920

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21087763

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2997361

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