Identification and functional characterization of a novel heterozygous missense variant in theLPLassociated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy-Reference-Cited by-同舟云学术

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Identification and functional characterization of a novel heterozygous missense variant in theLPLassociated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy

Published:2020-01-21 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Shi Xiao‐Lei¹^ORCID,Yang Qi¹,Pu Na¹,Li Xiao‐Yao¹,Chen Wei‐Wei¹²,Zhou Jing¹,Li Gang¹,Tong Zhi‐Hui¹,Férec Claude³⁴,Cooper David N.⁵^ORCID,Chen Jian‐Min³^ORCID,Li Wei‐Qin¹

Affiliation:

1. Surgical Intensive Care Unit (SICU) Department of General Surgery Jinling Hospital Medical School of Nanjing University Nanjing China

2. Department of Gastroenterology Clinical Medical College Yangzhou University Yangzhou China

3. Inserm, EFS, Univ Brest, UMR 1078 GGB Brest France

4. Service de Génétique CHU Brest Brest France

5. Institute of Medical Genetics School of Medicine Cardiff University Cardiff UK

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1048

Reference38 articles.

1. Longitudinal study on lipoprotein profile, high density lipoprotein subclass, and postheparin lipases during gestation in women;Alvarez J. J.;Journal of Lipid Research,1996

2. Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society

3. Classification of acute pancreatitis—2012: revision of the Atlanta classification and definitions by international consensus

4. Acute hypertriglyceridemic pancreatitis during pregnancy due to homozygous lipoprotein lipase gene mutation

5. Pregnancy-induced Hyperlipoproteinemia: Review of the Literature

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Approach to the Management of Hypertriglyceridemia Complicated With Acute Pancreatitis in Pregnancy: A Case Report;Cureus;2024-03-12

2. Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population;Archives of Endocrinology and Metabolism;2024

3. Acute pancreatitis in pregnancy and familial chylomicronemia syndrome: case report and literature review;Metabolism and Target Organ Damage;2023-11-13

4. Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis;Kidney International Reports;2023-11

5. The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function;Lipids in Health and Disease;2023-08-07

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