Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. - Wikidata - wikimedia - TriplyDB

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

http://www.wikidata.org/entity/Q36017101

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The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Mechanisms of granulin deficiency: lessons from cellular and animal models Mouse models of frontotemporal dementia Using familial information for variant filtering in high-throughput sequencing studies Progranulin: at the interface of neurodegenerative and metabolic diseases A shift to organismal stress resistance in programmed cell death mutants Granulin knock out zebrafish lack frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis pathology Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency The Evolution of the Secreted Regulatory Protein Progranulin The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.Frontotemporal Dementia.Progranulin protects against amyloid β deposition and toxicity in Alzheimer's disease mouse models.Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation.Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice Progranulin transcripts with short and long 5' untranslated regions (UTRs) are differentially expressed via posttranscriptional and translational repression.Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Nonsense mutation in PRNP associated with clinical Alzheimer's disease Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice.PLD3 is accumulated on neuritic plaques in Alzheimer's disease brains.A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.Genetics of the neuronal ceroid lipofuscinoses (Batten disease).Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia.Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin.Association Between Progranulin and Gaucher Disease.Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.Progranulin and Its Related MicroRNAs after Status Epilepticus: Possible Mechanisms of Neuroprotection.Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration.Novel diagnostic cerebrospinal fluid biomarkers for pathologic subtypes of frontotemporal dementia identified by proteomics.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.Dissociation of frontotemporal dementia-related deficits and neuroinflammation in progranulin haploinsufficient mice.Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

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P2860

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

http://www.wikidata.org/entity/Q36017101

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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name

Strikingly different clinicopa ...... y progranulin-mutation dosage.

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Strikingly different clinicopa ...... y progranulin-mutation dosage.

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Strikingly different clinicopa ...... y progranulin-mutation dosage.

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Strikingly different clinicopa ...... y progranulin-mutation dosage.

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prefLabel

Strikingly different clinicopa ...... y progranulin-mutation dosage.

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Strikingly different clinicopa ...... y progranulin-mutation dosage.

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J.AJHG.2012.04.021

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American Journal of Human Genetics

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Strikingly different clinicopa ...... y progranulin-mutation dosage.

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Davide Pareyson

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Giacomina Rossi

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Hans-Henrik Dahl

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Jada Lewis

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John Damiano

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John F Staropoli

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Katherine B Sims

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Katherine R Smith

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Melanie Bahlo

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Silvana Franceschetti

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P2860

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

A map of human genome variation from population-scale sequencing

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

A method and server for predicting damaging missense mutations

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

A neurodegenerative disease mutation that accelerates the clearance of apoptotic cells

Estimation of the inbreeding coefficient through use of genomic data

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1102-1107

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Dennis W. Dickson

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Samuel Berkovic

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2012-05-17T00:00:00Z

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225047939

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