Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation (Q28943547)

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

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scholarly article

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14 March 2017

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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

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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

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based on heuristic

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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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24 January 2020

Zuoheng Wang

4

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24 January 2020

Ruhua Yang

5

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24 January 2020

Hongyu Zhao

9

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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

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24 January 2020

publication date

3 March 2012

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24 January 2020

American Journal of Hematology

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14 March 2017

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24 January 2020

87

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24 January 2020

377-383

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24 January 2020

4

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14 March 2017

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24 January 2020

describes a project that uses

genome-wide association study

1 reference

based on heuristic

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ACTH protects against glucocorticoid-induced osteonecrosis of bone

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1 reference

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19 March 2017

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

1 reference

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19 March 2017

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

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19 March 2017

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

1 reference

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19 March 2017

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

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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

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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

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

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3 June 2018

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

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3 June 2018

The role of neurogenetics in Gaucher disease

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3 June 2018

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3 June 2018

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Plasmalogen levels in Gaucher disease.

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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

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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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