(Q43275551)

18 November 2017

title

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes (English)

1 reference

18 November 2017

author

Andrew Tym Hattersley

8

Andrew Hattersley

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18 November 2017

Oluf Pedersen

9

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Stefan Johansson

Stefan Johansson

2

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Sian Ellard

Sian Ellard

7

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Pål R Njølstad

12

Pål R Njølstad

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18 November 2017

11

Anders Molven

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18 November 2017

6

Helge Raeder

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18 November 2017

1

Janniche Torsvik

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18 November 2017

Anders Johansen

3

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18 November 2017

Jakob Ek

4

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18 November 2017

Jayne Minton

5

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18 November 2017

Torben Hansen

10

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18 November 2017

publication date

17 September 2009

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18 November 2017

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18 November 2017

volume

127

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18 November 2017

issue

1

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18 November 2017

page(s)

55-64

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Synthesis and secretion of the pancreatic-type carboxyl ester lipase by human endothelial cells

18 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0740-8

Bile salt-dependent lipase: its pathophysiological implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0740-8

Studies on the substrate specificity of a carboxyl ester hydrolase from human pancreatic juice. II. Action on cholesterol esters and lipid-soluble vitamin esters

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0740-8

Bile salt-dependent lipase transcripts in human fetal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0740-8

Different genes, different diabetes: lessons from maturity-onset diabetes of the young

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0740-8

Pancreatic bile salt-dependent lipase activity in serum of normolipidemic patients

21 January 2018

1 reference

12 December 2020

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

1 reference

12 December 2020

Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile

1 reference

12 December 2020

Mapping and sequencing of structural variation from eight human genomes

1 reference

12 December 2020

Proline-rich domain and glycosylation are not essential for the enzymic activity of bile salt-activated lipase. Kinetic studies of T-BAL, a truncated form of the enzyme, expressed in Escherichia coli

1 reference

12 December 2020

Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data

1 reference

12 December 2020

Human bile salt-stimulated lipase has a high frequency of size variation due to a hypervariable region in exon 11.

1 reference

12 December 2020

Integrated detection and population-genetic analysis of SNPs and copy number variation

1 reference

12 December 2020

Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations

1 reference

12 December 2020

O-Glycosylation of C-terminal tandem-repeated sequences regulates the secretion of rat pancreatic bile salt-dependent lipase

1 reference

12 December 2020

Structure and organization of the human carboxyl ester lipase locus

1 reference

12 December 2020

Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase

1 reference

12 December 2020

Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-ester lipase

1 reference

12 December 2020

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

1 reference

12 December 2020

Isolation and Characterization of Human Milk Bile Salt-Activated Lipase C-Tail Fragment

1 reference

12 December 2020

Homology requirements for unequal crossing over in humans

1 reference

12 December 2020

Genomic organization, sequence analysis, and chromosomal localization of the human carboxyl ester lipase (CEL) gene and a CEL-like (CELL) gene

1 reference

12 December 2020

Carboxyl ester lipase expression in macrophages increases cholesteryl ester accumulation and promotes atherosclerosis.

1 reference

12 December 2020

Lectin-like Ox-LDL receptor is expressed in human INT-407 intestinal cells: involvement in the transcytosis of pancreatic bile salt-dependent lipase

1 reference

12 December 2020

Bile-salt-stimulated lipase in human milk: evidence for its synthesis in the lactating mammary gland

1 reference

12 December 2020

Circulating bile salt-dependent lipase originates from the pancreas via intestinal transcytosis

1 reference

12 December 2020

Recombinant human milk bile salt-stimulated lipase. Catalytic activity is retained in the absence of glycosylation and the unique proline-rich repeats

1 reference

12 December 2020

Characterization of a VNTR polymorphism in the coding region of the CEL gene

1 reference

12 December 2020

10.1007/S00439-009-0740-8

Identifiers

DOI

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Dimensions Publication ID

18 November 2017

1020544367

0 references

1 reference