LDLR c.1340_1341delinsAA ;(p.S447*)

Variant ID: 19-11224107-CC-AA

NM_000527.4(LDLR):c.1340_1341delinsAA;(p.S447*)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)
Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV
Publication Date: 2022-06-09

Variant appearance in text: LDLR: Ser447Ter
PubMed Link: 35743896
Variant Present in the following documents:
  • Main text
  • life-12-00865.pdf
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Identification and Characterization of Variants in Intron 6 of the LPL Gene Locus among a Sample of the Kuwaiti Population.

Genes
Al-Shammari, Reem T RT; Al-Serri, Ahmad E AE; Barhoush, Sahar A SA; Al-Bustan, Suzanne A SA
Publication Date: 2022-04-09

Variant appearance in text: LDLR: Ser447X
PubMed Link: 35456470
Variant Present in the following documents:
  • Main text
  • genes-13-00664.pdf
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Meta-analysis of the association between Apolipoprotein E polymorphism and risks of myocardial infarction.

Bmc Cardiovascular Disorders
Shao, Aiyu A; Shi, Jikang J; Liang, Zhuoshuai Z; Pan, Lingfeng L; Zhu, Wenfei W; Liu, Sainan S; Xu, Jiayi J; Guo, Yanbo Y; Cheng, Yi Y; Qiao, Yichun Y
Publication Date: 2022-03-24

Variant appearance in text: LDLR: S447X
PubMed Link: 35331149
Variant Present in the following documents:
  • 12872_2022_Article_2566.pdf
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Hypertriglyceridemia: A Neglected Risk Factor for Ischemic Stroke?

Journal Of Stroke
Liang, Hai-Jie HJ; Zhang, Qing-Yi QY; Hu, Yi-Tong YT; Liu, Guo-Qing GQ; Qi, Rong R
Publication Date: 2022-01

Variant appearance in text: LDLR: S447X
PubMed Link: 35135057
Variant Present in the following documents:
  • Main text
  • jos-2021-02831.pdf
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Alcohol Drinking, Apolipoprotein Polymorphisms and the Risk of Cardiovascular Diseases.

Current Neurovascular Research
Ceci, Flavio M FM; Ceccanti, Mauro M; Petrella, Carla C; Vitali, Mario M; Messina, Marisa P MP; Chaldakov, George N GN; Greco, Antonio A; Ralli, Massimo M; Lucarelli, Marco M; Angeloni, Antonio A; Fiore, Marco M; Ferraguti, Giampiero G
Publication Date: 2021

Variant appearance in text: LDLR: S447X
PubMed Link: 33823779
Variant Present in the following documents:
  • Main text
  • CNR-18-150.pdf
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Alcohol Drinking, Apolipoprotein Polymorphisms and the Risk of Cardiovascular Diseases.

Current Neurovascular Research
Ceci, Flavio M FM; Ceccanti, Mauro M; Petrella, Carla C; Vitali, Mario M; Messina, Marisa P MP; Chaldakov, George N GN; Greco, Antonio A; Ralli, Massimo M; Lucarelli, Marco M; Angeloni, Antonio A; Fiore, Marco M; Ferraguti, Giampiero G
Publication Date: 2021

Variant appearance in text: LDLR: S447X
PubMed Link: 33823779
Variant Present in the following documents:
  • Main text
  • CNR-18-150.pdf
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Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.

Medical Sciences (Basel, Switzerland)
Chuluun-Erdene, Ariunbold A; Sengeragchaa, Orgil O; Altangerel, Tsend-Ayush TA; Sanjmyatav, Purevjal P; Dagdan, Batnaran B; Battulga, Solongo S; Enkhbat, Lundiamaa L; Byambasuren, Nyamjav N; Malchinkhuu, Munkhzol M; Janlav, Munkhtstetseg M
Publication Date: 2020-09-02

Variant appearance in text: LDLR: Ser447Ter
PubMed Link: 32887252
Variant Present in the following documents:
  • Main text
  • medsci-08-00038.pdf
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Genetics of Hypertriglyceridemia.

Frontiers In Endocrinology
Dron, Jacqueline S JS; Hegele, Robert A RA
Publication Date: 2020

Variant appearance in text: LDLR: Ser447Ter
PubMed Link: 32793115
Variant Present in the following documents:
  • Main text
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Association between HindIII (rs320) variant in the lipoprotein lipase gene and the presence of coronary artery disease and stroke among the Saudi population.

Saudi Journal Of Biological Sciences
Bogari, Neda M NM; Aljohani, Ashwag A; Dannoun, Anas A; Elkhateeb, Osama O; Porqueddu, Masimo M; Amin, Amr A AA; Bogari, Dema N DN; Taher, Mohiuddin M MM; Buba, Faruk F; Allam, Reem M RM; Bogari, Mustafa N MN; Alamanni, Francesco F
Publication Date: 2020-08

Variant appearance in text: LDLR: S447X
PubMed Link: 32714026
Variant Present in the following documents:
  • main.pdf
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Angiopoietin-like protein 8 differentially regulates ANGPTL3 and ANGPTL4 during postprandial partitioning of fatty acids.

Journal Of Lipid Research
Chen, Yan Q YQ; Pottanat, Thomas G TG; Siegel, Robert W RW; Ehsani, Mariam M; Qian, Yue-Wei YW; Zhen, Eugene Y EY; Regmi, Ajit A; Roell, William C WC; Guo, Haihong H; Luo, M Jane MJ; Gimeno, Ruth E RE; Van't Hooft, Ferdinand F; Konrad, Robert J RJ
Publication Date: 2020-08

Variant appearance in text: LDLR: s447x
PubMed Link: 32487544
Variant Present in the following documents:
  • jlrRA120000781.pdf
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Clinical review on triglycerides.

European Heart Journal
Laufs, Ulrich U; Parhofer, Klaus G KG; Ginsberg, Henry N HN; Hegele, Robert A RA
Publication Date: 2020-01-01

Variant appearance in text: LDLR: S447X
PubMed Link: 31764986
Variant Present in the following documents:
  • Main text
  • ehz785.pdf
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Apolipoprotein E polymorphisms contribute to statin response in Chinese ASCVD patients with dyslipidemia.

Lipids In Health And Disease
Zhang, Lei L; He, Siying S; Li, Zuhua Z; Gan, Xuedong X; Li, Siwei S; Cheng, Xiaohuan X; Yang, Na N; Zheng, Fang F
Publication Date: 2019-06-01

Variant appearance in text: LDLR: S447X
PubMed Link: 31153375
Variant Present in the following documents:
  • 12944_2019_Article_1069.pdf
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Leveraging Genetics to Improve Cardiovascular Health in Diabetes: The 2018 Edwin Bierman Award Lecture.

Diabetes
Doria, Alessandro A
Publication Date: 2019-03

Variant appearance in text: LDLR: S447*
PubMed Link: 30787070
Variant Present in the following documents:
  • Main text
  • dbi180036.pdf
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Adeno-associated virus vector as a platform for gene therapy delivery.

Nature Reviews. Drug Discovery
Wang, Dan D; Tai, Phillip W L PWL; Gao, Guangping G
Publication Date: 2019-05

Variant appearance in text: LDLR: s447X
PubMed Link: 30710128
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.

F1000Research
Palacio Rojas, Marcos M; Prieto, Carem C; Bermúdez, Valmore V; Garicano, Carlos C; Núñez Nava, Trina T; Martínez, María Sofía MS; Salazar, Juan J; Rojas, Edward E; Pérez, Arturo A; Marca Vicuña, Paulo P; González Martínez, Natalia N; Maldonado Parra, Santiago S; Hoedebecke, Kyle K; D'Addosio, Rosanna R; Cano, Clímaco C; Rojas, Joselyn J
Publication Date: 2017

Variant appearance in text: LDLR: Ser447X
PubMed Link: 30345000
Variant Present in the following documents:
  • Main text
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Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
Publication Date: 2018-12

Variant appearance in text: LDLR: S447X
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
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Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study.

Computational And Structural Biotechnology Journal
Marateb, Hamid R HR; Mohebian, Mohammad Reza MR; Javanmard, Shaghayegh Haghjooy SH; Tavallaei, Amir Ali AA; Tajadini, Mohammad Hasan MH; Heidari-Beni, Motahar M; Mañanas, Miguel Angel MA; Motlagh, Mohammad Esmaeil ME; Heshmat, Ramin R; Mansourian, Marjan M; Kelishadi, Roya R
Publication Date: 2018

Variant appearance in text: LDLR: S447X
PubMed Link: 30026888
Variant Present in the following documents:
  • Main text
  • main.pdf
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Association of apolipoprotein E gene polymorphisms with blood lipids and their interaction with dietary factors.

Lipids In Health And Disease
Shatwan, Israa M IM; Winther, Kristian Hillert KH; Ellahi, Basma B; Elwood, Peter P; Ben-Shlomo, Yoav Y; Givens, Ian I; Rayman, Margaret P MP; Lovegrove, Julie A JA; Vimaleswaran, Karani S KS
Publication Date: 2018-04-30

Variant appearance in text: LDLR: S447X
PubMed Link: 29712557
Variant Present in the following documents:
  • Main text
  • 12944_2018_Article_744.pdf
View BVdb publication page



Genetics of Triglycerides and the Risk of Atherosclerosis.

Current Atherosclerosis Reports
Dron, Jacqueline S JS; Hegele, Robert A RA
Publication Date: 2017-07

Variant appearance in text: LDLR: S447X
PubMed Link: 28534127
Variant Present in the following documents:
  • 11883_2017_Article_667.pdf
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Common variants in the genes of triglyceride and HDL-C metabolism lack association with coronary artery disease in the Pakistani subjects.

Lipids In Health And Disease
Shahid, Saleem Ullah SU; Shabana, N A NA; Cooper, Jackie A JA; Rehman, Abdul A; Humphries, Steve E SE
Publication Date: 2017-01-31

Variant appearance in text: LDLR: S447X
PubMed Link: 28143480
Variant Present in the following documents:
  • 12944_2017_Article_419.pdf
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Host-related factors explaining interindividual variability of carotenoid bioavailability and tissue concentrations in humans.

Molecular Nutrition & Food Research
Bohn, Torsten T; Desmarchelier, Charles C; Dragsted, Lars O LO; Nielsen, Charlotte S CS; Stahl, Wilhelm W; Rühl, Ralph R; Keijer, Jaap J; Borel, Patrick P
Publication Date: 2017-06

Variant appearance in text: LDLR: S447X
PubMed Link: 28101967
Variant Present in the following documents:
  • Main text
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Biochemical Analysis of the Lipoprotein Lipase Truncation Variant, LPLS447X, Reveals Increased Lipoprotein Uptake.

Biochemistry
Hayne, Cassandra K CK; Lafferty, Michael J MJ; Eglinger, Brian J BJ; Kane, John P JP; Neher, Saskia B SB
Publication Date: 2017-01-24

Variant appearance in text: LDLR: S447X
PubMed Link: 27984852
Variant Present in the following documents:
  • Main text
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Recent Developments in Gene Therapy for Homozygous Familial Hypercholesterolemia.

Current Atherosclerosis Reports
Ajufo, Ezim E; Cuchel, Marina M
Publication Date: 2016-05

Variant appearance in text: LDLR: S447X
PubMed Link: 26980316
Variant Present in the following documents:
  • Main text
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Association between Apolipoprotein E polymorphism and myocardial infarction risk: A systematic review and meta-analysis.

Febs Open Bio
Wang, Yi-Lian YL; Sun, Li-Ming LM; Zhang, Li L; Xu, Hai-Tao HT; Dong, Zheng Z; Wang, Luo-Qing LQ; Wang, Ming-Lang ML
Publication Date: 2015

Variant appearance in text: LDLR: S447X
PubMed Link: 26636027
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Association of polymorphisms of genes involved in lipid metabolism with blood pressure and lipid values in mexican hypertensive individuals.

Disease Markers
Ríos-González, Blanca Estela BE; Ibarra-Cortés, Bertha B; Ramírez-López, Guadalupe G; Sánchez-Corona, José J; Magaña-Torres, María Teresa MT
Publication Date: 2014

Variant appearance in text: LDLR: Ser447Ter
PubMed Link: 25587205
Variant Present in the following documents:
  • DM2014-150358.pdf
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AAV vectors expressing LDLR gain-of-function variants demonstrate increased efficacy in mouse models of familial hypercholesterolemia.

Circulation Research
Somanathan, Suryanarayan S; Jacobs, Frank F; Wang, Qiang Q; Hanlon, Alexandra L AL; Wilson, James M JM; Rader, Daniel J DJ
Publication Date: 2014-08-29

Variant appearance in text: LDLR: S447X
PubMed Link: 25023731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart disease.

Biomed Research International
Ye, Huadan H; Zhao, Qianlei Q; Huang, Yi Y; Wang, Lingyan L; Liu, Haibo H; Wang, Chunming C; Dai, Dongjun D; Xu, Leiting L; Ye, Meng M; Duan, Shiwei S
Publication Date: 2014

Variant appearance in text: LDLR: Ser447Ter
PubMed Link: 24900971
Variant Present in the following documents:
  • BMRI2014-564940.pdf
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The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

Biomed Research International
de Almeida, Elaine Regina Delicato ER; Reiche, Edna Maria Vissoci EM; Kallaur, Ana Paula AP; Flauzino, Tamires T; Watanabe, Maria Angelica Ehara MA
Publication Date: 2013

Variant appearance in text: LDLR: S447X
PubMed Link: 24319689
Variant Present in the following documents:
  • Main text
  • BMRI2013-836790.pdf
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Meta-analyses of 8 polymorphisms associated with the risk of the Alzheimer's disease.

Plos One
Xu, Xuting X; Wang, Yunliang Y; Wang, Lingyan L; Liao, Qi Q; Chang, Lan L; Xu, Leiting L; Huang, Yi Y; Ye, Huadan H; Xu, Limin L; Chen, Cheng C; Shen, Xiaowei X; Zhang, Fuqiang F; Ye, Meng M; Wang, Qinwen Q; Duan, Shiwei S
Publication Date: 2013

Variant appearance in text: LDLR: Ser447Ter
PubMed Link: 24039871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progress in genetic association studies of plasma lipids.

Current Opinion In Lipidology
Asselbergs, Folkert W FW; Lovering, Ruth C RC; Drenos, Fotios F
Publication Date: 2013-04

Variant appearance in text: LDLR: S447X
PubMed Link: 23385652
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Graph Theory.

Neurology Research International
Buscema, Massimo M; Penco, Silvana S; Grossi, Enzo E
Publication Date: 2012

Variant appearance in text: LDLR: ser447term
PubMed Link: 22934166
Variant Present in the following documents:
  • NRI2012-478560.pdf
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Pharmacogenetics of cardiovascular drug therapy.

Clinical Cases In Mineral And Bone Metabolism : The Official Journal Of The Italian Society Of Osteoporosis, Mineral Metabolism, And Skeletal Diseases
Peters, Bas J M BJ; Klungel, Olaf H OH; de Boer, Anthonius A; Ch Stricker, Bruno H BH; Maitland-van der Zee, Anke-Hilse AH
Publication Date: 2009-01

Variant appearance in text: LDLR: S447X
PubMed Link: 22461099
Variant Present in the following documents:
  • Main text
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Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Plos Genetics
,
Publication Date: 2011-09

Variant appearance in text: LDLR: S447X
PubMed Link: 21966275
Variant Present in the following documents:
  • pgen.1002260.s008.pdf
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A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.

Human Molecular Genetics
Hegele, Robert A RA; Ban, Matthew R MR; Hsueh, Neil N; Kennedy, Brooke A BA; Cao, Henian H; Zou, Guang Yong GY; Anand, Sonia S; Yusuf, Salim S; Huff, Murray W MW; Wang, Jian J
Publication Date: 2009-11-01

Variant appearance in text: LDLR: S447X
PubMed Link: 19656773
Variant Present in the following documents:
  • Main text
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Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

Plos Genetics
Deo, Rahul C RC; Reich, David D; Tandon, Arti A; Akylbekova, Ermeg E; Patterson, Nick N; Waliszewska, Alicja A; Kathiresan, Sekar S; Sarpong, Daniel D; Taylor, Herman A HA; Wilson, James G JG
Publication Date: 2009-01

Variant appearance in text: LDLR: S447X
PubMed Link: 19148283
Variant Present in the following documents:
  • Main text
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A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke
Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,
Publication Date: 2009-03

Variant appearance in text: LDLR: Ser447Ter
PubMed Link: 19131662
Variant Present in the following documents:
  • Main text
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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology
Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F
Publication Date: 2009-03

Variant appearance in text: LDLR: S447X
PubMed Link: 19041386
Variant Present in the following documents:
  • Main text
View BVdb publication page



New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics
Penco, Silvana S; Buscema, Massimo M; Patrosso, Maria Cristina MC; Marocchi, Alessandro A; Grossi, Enzo E
Publication Date: 2008-05-30

Variant appearance in text: LDLR: ser447term
PubMed Link: 18513389
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study).

Bmc Medical Genetics
van Greevenbroek, Marleen M J MM; Zhang, Jian J; Kallen, Carla J H van der CJ; Schiffers, Paul M H PM; Feskens, Edith J M EJ; de Bruin, Tjerk W A TW
Publication Date: 2008-04-24

Variant appearance in text: LDLR: Ser447Ter
PubMed Link: 18433508
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-36.pdf
View BVdb publication page



Could lipoprotein lipase play a role in Alzheimer's disease?

Thescientificworldjournal
Blain, Jean-François JF; Poirier, Judes J
Publication Date: 2004-07-20

Variant appearance in text: LDLR: S447X
PubMed Link: 15311328
Variant Present in the following documents:
  • TSWJ-2004-4-476364.pdf
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Search for haplotype interactions that influence susceptibility to type 1 diabetes, through use of unphased genotype data.

American Journal Of Human Genetics
Zhang, Jian J; Liang, Faming F; Dassen, Willem R M WR; Veldman, Bart A J BA; Doevendans, Pieter A PA; De Gunst, Mathisca M
Publication Date: 2003-12

Variant appearance in text: LDLR: Ser447term
PubMed Link: 14639528
Variant Present in the following documents:
  • Main text
View BVdb publication page