Variant ID: 19-11233886-C-T

NM_000527.4(LDLR):c.2177C>T;(p.T726I)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: LDLR: T726I
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
View BVdb publication page



O-glycan initiation directs distinct biological pathways and controls epithelial differentiation.

Embo Reports
Bagdonaite, Ieva I; Pallesen, Emil Mh EM; Ye, Zilu Z; Vakhrushev, Sergey Y SY; Marinova, Irina N IN; Nielsen, Mathias I MI; Kramer, Signe H SH; Pedersen, Stine F SF; Joshi, Hiren J HJ; Bennett, Eric P EP; Dabelsteen, Sally S; Wandall, Hans H HH
Publication Date: 2020-06-04

Variant appearance in text: LDLR: Thr726Ile
PubMed Link: 32329196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
Garg, Abhimanyu A; Fazio, Sergio S; Duell, P Barton PB; Baass, Alexis A; Udata, Chandrasekhar C; Joh, Tenshang T; Riel, Tom T; Sirota, Marina M; Dettling, Danielle D; Liang, Hong H; Garzone, Pamela D PD; Gumbiner, Barry B; Wan, Hong H
Publication Date: 2020-01-01

Variant appearance in text: LDLR: T726I; rs45508991
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
Sun, Yan V YV; Damrauer, Scott M SM; Hui, Qin Q; Assimes, Themistocles L TL; Ho, Yuk-Lam YL; Natarajan, Pradeep P; Klarin, Derek D; Huang, Jie J; Lynch, Julie J; DuVall, Scott L SL; Pyarajan, Saiju S; Honerlaw, Jacqueline P JP; Gaziano, J Michael JM; Cho, Kelly K; Rader, Daniel J DJ; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Wilson, Peter W F PWF
Publication Date: 2018-12

Variant appearance in text: rs45508991
PubMed Link: 31106297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences
Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C
Publication Date: 2018-06-05

Variant appearance in text: LDLR: 2177C>T; Thr726Ile
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis
Nikkola, Elina E; Ko, Arthur A; Alvarez, Marcus M; Cantor, Rita M RM; Garske, Kristina K; Kim, Elliot E; Gee, Stephanie S; Rodriguez, Alejandra A; Muxel, Reinhard R; Matikainen, Niina N; Söderlund, Sanni S; Motazacker, Mahdi M MM; Borén, Jan J; Lamina, Claudia C; Kronenberg, Florian F; Schneider, Wolfgang J WJ; Palotie, Aarno A; Laakso, Markku M; Taskinen, Marja-Riitta MR; Pajukanta, Päivi P
Publication Date: 2017-09

Variant appearance in text: LDLR: 2177C>T; T726I; rs45508991
PubMed Link: 28772107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg
Safarova, Maya S MS; Klee, Eric W EW; Baudhuin, Linnea M LM; Winkler, Erin M EM; Kluge, Michelle L ML; Bielinski, Suzette J SJ; Olson, Janet E JE; Kullo, Iftikhar J IJ
Publication Date: 2017-04

Variant appearance in text: LDLR: 2177C>T; Thr726Ile; rs45508991
PubMed Link: 28145427
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Molecular Genetics & Genomic Medicine
Fahed, Akl C AC; Khalaf, Ruby R; Salloum, Rony R; Andary, Rabih R RR; Safa, Raya R; El-Rassy, Inaam I; Moubarak, Elie E; Azar, Sami T ST; Bitar, Fadi F FF; Nemer, Georges G
Publication Date: 2016-05

Variant appearance in text: LDLR: T726I
PubMed Link: 27247956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: LDLR: Thr726Ile
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
Brænne, Ingrid I; Kleinecke, Mariana M; Reiz, Benedikt B; Graf, Elisabeth E; Strom, Tim T; Wieland, Thomas T; Fischer, Marcus M; Kessler, Thorsten T; Hengstenberg, Christian C; Meitinger, Thomas T; Erdmann, Jeanette J; Schunkert, Heribert H
Publication Date: 2016-02

Variant appearance in text: LDLR: 2177C>T; T726I; rs45508991
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H
Publication Date: 2015-02

Variant appearance in text: LDLR: T726I
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic heterogeneity of hepatitis C virus cell entry receptors seems to have no influence on selection of virus variants.

Virology Journal
Lipskoch, Maren M; Wiese, Manfred M; Timm, Joerg J; Roggendorf, Michael M; Viazov, Sergei S
Publication Date: 2014-03-14

Variant appearance in text: rs45508991
PubMed Link: 24628791
Variant Present in the following documents:
  • Main text
View BVdb publication page