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[PDF] A Protein‐Truncating HSD17B13 Variant and Protection from ...


A Protein-Truncating HSD17B13 Variant and Protection from ...

A loss-of-function variant in HSD17B13 is associated with a reduced risk of chronic liver disease and of progression from steatosis to steatohepatitis.

[PDF] A Protein‐Truncating HSD17B13 Variant and Protection from ...

A loss‐of‐function variant in HSD17B13 was associated with a reduced risk of chronic liver disease and of progression from steatosis to steatohepatitis.

A Protein-Truncating HSD17B13 Variant and Protection from ...

A splice variant (rs72613567:TA) in HSD17B13, encoding the hepatic lipid droplet protein hydroxysteroid 17-beta dehydrogenase 13, was found to ...

A Protein-Truncating HSD17B13 Variant and Protection ... - PubMed

Results: A splice variant (rs72613567:TA) in HSD17B13, encoding the hepatic lipid droplet protein hydroxysteroid 17-beta dehydrogenase 13, was ...

A Protein-Truncating HSD17B13 Variant and Protection from ...

A genetic variant conferring a loss of function on the enzyme hydroxysteroid 17-beta dehydrogenase 13, expressed in the membrane surrounding the hepatic ...

A Protein-Truncating HSD17B13 Variant and Protection from ...

Results A splice variant (rs72613567:TA) in HSD17B13, encoding the hepatic lipid droplet protein hydroxysteroid 17-beta dehydrogenase 13, was associated with ...

A Protein-Truncating HSD17B13 Variant and Protection ... - Ex Libris

A genetic variant conferring a loss of function on the enzyme hydroxysteroid 17-beta dehydrogenase 13, expressed in the membrane surrounding the hepatic ...

A Protein-Truncating HSD17B13 Variant and Protection from ...

A genetic variant conferring a loss of function on the enzyme hydroxysteroid 17-beta dehydrogenase 13, expressed in the membrane surrounding the hepatic ...

HSD17B13 truncated variant is associated with a mild hepatic ...

A protein-truncating HSD17B13 variant (rs72613567) was shown to protect individuals from alcoholic and non-alcoholic liver disease.

A Protein-Truncating HSD17B13 Variant and Protection From ...

abulhusn2018.pdf - Free download as PDF File (.pdf), Text File (.txt) or read online for free.

A protein-truncating HSD17B13 variant and protection from chronic ...

I148M allele and resulted in an unstable and truncated protein with reduced enzymatic activity. CONCLUSIONS A loss-of-function variant in ...

Sa1560 PROTEIN TRUNCATING SPLICE VARIANT (RS72613567 ...

Request PDF | Sa1560 PROTEIN TRUNCATING SPLICE VARIANT (RS72613567) IN HSD17B13 GENE DOES NOT CONFER PROTECTION TO NAFLD IN INDIAN POPULATION | Background: ...

A closer look at the mysterious HSD17B13 - PMC

The human HSD17B13 gene encodes a 300-amino-acid protein that is localized on lipid droplet (4). Interestingly, a few single-nucleotide polymorphisms ( ...

An HSD17B13 variant reduces cirrhosis risk - Nature

The HSD17B13 variant was found to alter mRNA splicing, yielding a truncated protein with reduced enzymatic activity against the experimentally ...

A closer look at the mysterious HSD17B131

mouse Hsd17b13 gene knockout does not seem to protect the liver from ... A protein-truncating HSD17B13 variant and protection from chronic liver ...

HSD17B13: A Potential Therapeutic Target for NAFLD - Frontiers

A Protein-Truncating HSD17B13 Variant and Protection from Chronic. Liver Disease. N. Engl. J. Med. 378 (12), 1096–1106. doi:10.1056 ...

impact of a loss-of-function variant in hsd17b13 on hepatic ...

A Protein-. Truncating HSD17B13 Variant and Protection from Chronic Liver Disease. N Engl J. Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191 ...

Therapeutic opportunities for the treatment of NASH with genetically ...

aminase levels, with this variant being shown to protect ... A protein-truncating HSD17B13 variant and protection from chronic liver · disease.

Splice variant rs72613567 prevents worst histologic outcomes in ...

Hydroxysteroid 17-#x03B2; dehydrogenase 13 (HSD17B13) is a lipid droplet-associated protein; its gene-encoding variants affect the chronic liver diseases, ...

[PDF] Loss-of-function HSD17B13 variants, non-alcoholic ...

A Protein‐Truncating HSD17B13 Variant and Protection from Chronic Liver Disease · N. Abul-HusnXi-ping Cheng +45 authors. F. Dewey. Medicine. The New England ...