(Q28943547)

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Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

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scholarly article

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14 March 2017

Europe PubMed Central

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24 January 2020

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation (English)

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14 March 2017

Europe PubMed Central

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24 January 2020

genome-wide association study

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1 reference

based on heuristic

inferred from title

Gaucher's disease

1 reference

based on heuristic

inferred from title

8

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24 January 2020

Peter K. Gregersen

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object named as

Peter K Gregersen

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24 January 2020

6

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Judy H Cho

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24 January 2020

author name string

Jun Liu

3

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14 March 2017

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24 January 2020

Zuoheng Wang

4

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14 March 2017

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24 January 2020

Ruhua Yang

5

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14 March 2017

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24 January 2020

Hongyu Zhao

9

2 references

14 March 2017

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24 January 2020

Clarence K Zhang

1

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24 January 2020

Philip B Stein

2

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24 January 2020

Gregory M Pastores

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24 January 2020

Pramod K Mistry

11

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24 January 2020

publication date

3 March 2012

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24 January 2020

American Journal of Hematology

2 references

14 March 2017

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24 January 2020

87

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24 January 2020

4

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14 March 2017

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24 January 2020

377-383

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24 January 2020

describes a project that uses

genome-wide association study

1 reference

based on heuristic

inferred from title

ACTH protects against glucocorticoid-induced osteonecrosis of bone

1 reference

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19 March 2017

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

1 reference

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19 March 2017

Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid

1 reference

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19 March 2017

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

1 reference

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19 March 2017

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study

1 reference

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19 March 2017

FLRG, a new ADAM12-associated protein, modulates osteoclast differentiation

1 reference

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19 March 2017

Haploview: analysis and visualization of LD and haplotype maps

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19 March 2017

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1 reference

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19 March 2017

Lag1p and Lac1p are essential for the Acyl-CoA-dependent ceramide synthase reaction in Saccharomyces cerevisae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

19 March 2017

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

19 March 2017

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

19 March 2017

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

19 March 2017

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

7 April 2017

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Gaucher disease: clinical profile and therapeutic developments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

A monozygotic twin pair with highly discordant Gaucher phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Case-control association testing in the presence of unknown relationships

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Phenotype, diagnosis, and treatment of Gaucher's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

High-resolution mapping of expression-QTLs yields insight into human gene regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Case-control association testing with related individuals: a more powerful quasi-likelihood score test

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Effective cell and gene therapy in a murine model of Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Gaucher disease: pathological mechanisms and modern management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Gaucher disease: gene frequencies and genotype/phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Gaucher's disease: molecular, genetic and enzymological aspects

1 reference

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3 June 2018

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

The role of neurogenetics in Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684025

3 June 2018

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients

1 reference

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3 June 2018

Divergent phenotypes in Gaucher disease implicate the role of modifiers

1 reference

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21 January 2018

The interleukin-6 promoter polymorphism in Gaucher disease: a new modifier gene?

1 reference

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21 January 2018

Vitamin D receptor (VDR) polymorphisms in the cardiac variant of Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FAJH.23118

21 January 2018

Glucosylceramide modulates membrane traffic along the endocytic pathway

1 reference

https://api.crossref.org/works/10.1002%2FAJH.23118

21 January 2018

Missense single nucleotide polymorphism of the ADAM12 gene is associated with radiographic knee osteoarthritis in middle-aged Estonian cohort.

1 reference

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21 January 2018

A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

1 reference

https://api.crossref.org/works/10.1002%2FAJH.23118

21 January 2018

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.23118

21 January 2018

Plasmalogen levels in Gaucher disease.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.23118

21 January 2018

Drinking from the fire hose--statistical issues in genomewide association studies.

1 reference

https://api.crossref.org/works/10.1002%2FAJH.23118

21 January 2018

A validated disease severity scoring system for adults with type 1 Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twin pairs showing discordance of phenotype in adult Gaucher's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TNF-alpha levels and TNF-alpha gene polymorphism in type I Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease severity in sibling pairs with type 1 Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: variability in phenotype among siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22388998

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJH.23118

2 references

14 March 2017

Europe PubMed Central

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24 January 2020

1 reference

Europe PubMed Central

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24 January 2020

2 references

14 March 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22388998%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

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