Variant ID: 19-11216264-G-A

NM_000527.4(LDLR):c.682G>A;(p.E228K)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Frontiers In Genetics
Tada, Hayato H; Kojima, Nobuko N; Yamagami, Kan K; Nomura, Akihiro A; Nohara, Atsushi A; Usui, Soichiro S; Sakata, Kenji K; Fujino, Noboru N; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2022

Variant appearance in text: LDLR: 682G>A
PubMed Link: 35480308
Variant Present in the following documents:
  • Presentation1.pdf
View BVdb publication page



The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Journal Of Personalized Medicine
Meshkov, Alexey N AN; Ershova, Alexandra I AI; Kiseleva, Anna V AV; Shalnova, Svetlana A SA; Drapkina, Oxana M OM; Boytsov, Sergey A SA; On Behalf Of The Fh-Esse-Rf Investigators,
Publication Date: 2021-05-24

Variant appearance in text: LDLR: 682G>A; Glu228Lys; rs121908029
PubMed Link: 34074024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
Nagahara, Keiko K; Nishibukuro, Tsuyoshi T; Ogiwara, Yasuko Y; Ikegawa, Kento K; Tada, Hayato H; Yamagishi, Masakazu M; Kawashiri, Masa-Aki MA; Ochi, Ayako A; Toyoda, Junya J; Nakano, Yuya Y; Adachi, Masanori M; Mizuno, Katsumi K; Hasegawa, Yukihiro Y; Dobashi, Kazushige K
Publication Date: 2021-05-20

Variant appearance in text: LDLR: Glu228Lys
PubMed Link: 34011801
Variant Present in the following documents:
  • jat-29-667.pdf
View BVdb publication page



Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association
Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S
Publication Date: 2021-02-16

Variant appearance in text: LDLR: 682G>A; Glu228Lys; rs121908029
PubMed Link: 33533259
Variant Present in the following documents:
  • JAH3-10-e018263.pdf
  • JAH3-10-e018263-s001.pdf
View BVdb publication page



The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: LDLR: E228K
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.pdf
View BVdb publication page



Montreal-FH-SCORE Predicts Coronary Artery Calcium Score in Patients With Familial Hypercholesterolemia.

Cjc Open
Béland-Bonenfant, Sarah S; Paquette, Martine M; Fantino, Manon M; Bourque, Lucienne L; Saint-Pierre, Nathalie N; Baass, Alexis A; Bernard, Sophie S
Publication Date: 2021-01

Variant appearance in text: LDLR: E228K
PubMed Link: 33458631
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: N/A
PubMed Link: 33418990
Variant Present in the following documents:
View BVdb publication page



Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics
Oommen, Deepu D; Kizhakkedath, Praseetha P; Jawabri, Aseel A AA; Varghese, Divya Saro DS; Ali, Bassam R BR
Publication Date: 2020

Variant appearance in text: LDLR: 682G>A; E228K; rs121908029
PubMed Link: 33173538
Variant Present in the following documents:
  • Main text
  • fgene-11-570355.pdf
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs121908029
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
Huang, Chin-Chou CC; Charng, Min-Ji MJ
Publication Date: 2020

Variant appearance in text: LDLR: 682G>A
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.

Scientific Reports
Grunwald, Stefanie Anke SA; Popp, Oliver O; Haafke, Stefanie S; Jedraszczak, Nicole N; Grieben, Ulrike U; Saar, Kathrin K; Patone, Giannino G; Kress, Wolfram W; Steinhagen-Thiessen, Elisabeth E; Dittmar, Gunnar G; Spuler, Simone S
Publication Date: 2020-02-07

Variant appearance in text: rs121908029
PubMed Link: 32034223
Variant Present in the following documents:
  • Main text
View BVdb publication page



A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry
Sarkar, Samantha K SK; Foo, Alexander C Y ACY; Matyas, Angela A; Asikhia, Ikhuosho I; Kosenko, Tanja T; Goto, Natalie K NK; Vergara-Jaque, Ariela A; Lagace, Thomas A TA
Publication Date: 2020-02-21

Variant appearance in text: LDLR: E228K
PubMed Link: 31949048
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low-density lipoprotein receptor gene mutation at Exon 2 and 4 in premature coronary artery disease in our population.

Pakistan Journal Of Medical Sciences
Rehman, Saqibah S; Ahmad, Tariq Mahmood TM; Hayat, Asma A; Tahir, Sufyan S
Publication Date: 2019

Variant appearance in text: LDLR: 682G>A; E228K
PubMed Link: 31372158
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Eroğlu, Zuhal Z; Tetik Vardarlı, Aslı A; Düzgün, Zekeriya Z; Gündüz, Cumhur C; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M
Publication Date: 2018-05

Variant appearance in text: LDLR: E228K
PubMed Link: 29724976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal
Kim, Hee Nam HN; Kweon, Sun-Seog SS; Shin, Min-Ho MH
Publication Date: 2018-01

Variant appearance in text: LDLR: Glu228Lys
PubMed Link: 29399563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

European Journal Of Human Genetics : Ejhg
Ghaleb, Youmna Y; Elbitar, Sandy S; El Khoury, Petra P; Bruckert, Eric E; Carreau, Valérie V; Carrié, Alain A; Moulin, Philippe P; Di-Filippo, Mathilde M; Charriere, Sybil S; Iliozer, Harout H; Farnier, Michel M; Luc, Gérald G; Rabès, Jean-Pierre JP; Boileau, Catherine C; Abifadel, Marianne M; Varret, Mathilde M
Publication Date: 2018-04

Variant appearance in text: LDLR: 682G>A; Glu228Lys; rs121908029
PubMed Link: 29374275
Variant Present in the following documents:
  • Main text
View BVdb publication page



The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2016-12

Variant appearance in text: LDLR: 682G>A; Glu228Lys
PubMed Link: 27777316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
Han, Soo Min SM; Hwang, Byungjin B; Park, Tae-gun TG; Kim, Do-Il DI; Rhee, Moo-Yong MY; Lee, Byoung-Kwon BK; Ahn, Young Keun YK; Cho, Byung Ryul BR; Woo, Jeongtaek J; Hur, Seung-Ho SH; Jeong, Jin-Ok JO; Park, Sungha S; Jang, Yangsoo Y; Lee, Min Goo MG; Bang, Duhee D; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2015

Variant appearance in text: LDLR: 682G>A; E228K
PubMed Link: 25962062
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing in suspected monogenic dyslipidemias.

Circulation. Cardiovascular Genetics
Stitziel, Nathan O NO; Peloso, Gina M GM; Abifadel, Marianne M; Cefalu, Angelo B AB; Fouchier, Sigrid S; Motazacker, M Mahdi MM; Tada, Hayato H; Larach, Daniel B DB; Awan, Zuhier Z; Haller, Jorge F JF; Pullinger, Clive R CR; Varret, Mathilde M; Rabès, Jean-Pierre JP; Noto, Davide D; Tarugi, Patrizia P; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Yamagishi, Masakazu M; Risman, Marjorie M; Deo, Rahul R; Ruel, Isabelle I; Shendure, Jay J; Nickerson, Deborah A DA; Wilson, James G JG; Rich, Stephen S SS; Gupta, Namrata N; Farlow, Deborah N DN; Neale, Benjamin M BM; Daly, Mark J MJ; Kane, John P JP; Freeman, Mason W MW; Genest, Jacques J; Rader, Daniel J DJ; Mabuchi, Hiroshi H; Kastelein, John J P JJ; Hovingh, G Kees GK; Averna, Maurizio R MR; Gabriel, Stacey S; Boileau, Catherine C; Kathiresan, Sekar S
Publication Date: 2015-04

Variant appearance in text: LDLR: E228K
PubMed Link: 25632026
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: LDLR: E228K
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
Kusters, D M DM; Huijgen, R R; Defesche, J C JC; Vissers, M N MN; Kindt, I I; Hutten, B A BA; Kastelein, J J P JJ
Publication Date: 2011-04

Variant appearance in text: LDLR: Glu228Lys
PubMed Link: 21475731
Variant Present in the following documents:
  • Main text
View BVdb publication page