Publications:

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Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics

V Vasilyev, F Zakharova, T Bogoslovskay, M Mandelshtam

Publication Date: 2020

Variant appearance in text: LDLR: 1775G>A

PubMed Link: 33391333

Variant Present in the following documents:

• Main text

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Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports

VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov

Publication Date: 2021-01

Variant appearance in text: LDLR: 1775G>A; Gly592Glu; rs137929307

PubMed Link: 33269076

Variant Present in the following documents:

• Main text

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

Frontiers In Genetics

D Oommen, P Kizhakkedath, AA Jawabri, DS Varghese, BR Ali

Publication Date: 2020

Variant appearance in text: LDLR: 1775G>A; Gly592Glu; rs137929307

PubMed Link: 33173538

Variant Present in the following documents:

• Main text

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Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics

M Vrablik, L Tichý, T Freiberger, V Blaha, M Satny, JA Hubacek

Publication Date: 2020

Variant appearance in text: LDLR: 1775G>A; Gly592Glu

PubMed Link: 33133164

Variant Present in the following documents:

• Main text

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SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

Clinics (Sao Paulo, Brazil)

AM Lerario, DR Mohan, LR Montenegro, MFA Funari, MY Nishi, AM Narcizo, AFF Benedetti, SM Oba-Shinjo, AJ Vitorino, RASXD Santos, AAL Jorge, LF Onuchic, SKN Marie, BB Mendonca

Publication Date: 2020

Variant appearance in text: LDLR: Gly592Glu; rs137929307

PubMed Link: 32785571

Variant Present in the following documents:

• Main text

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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease

AE Semenova, IV Sergienko, D García-Giustiniani, L Monserrat, AB Popova, DN Nozadze, MV Ezhov

Publication Date: 2020-05-14

Variant appearance in text: LDLR: 1775G>A; Gly592Glu

PubMed Link: 32423031

Variant Present in the following documents:

• Main text

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Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association

TD Pottinger, MJ Puckelwartz, LL Pesce, A Robinson, S Kearns, JA Pacheco, LJ Rasmussen-Torvik, ME Smith, R Chisholm, EM McNally

Publication Date: 2020-02-04

Variant appearance in text: LDLR: Gly592Glu

PubMed Link: 32009526

Variant Present in the following documents:

• Main text

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Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society

A Garg, S Fazio, PB Duell, A Baass, C Udata, T Joh, T Riel, M Sirota, D Dettling, H Liang, PD Garzone, B Gumbiner, H Wan

Publication Date: 2020-01-01

Variant appearance in text: LDLR: G592E

PubMed Link: 31993549

Variant Present in the following documents:

• Main text

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A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine

MD Di Taranto, C Giacobbe, A Buonaiuto, I Calcaterra, D Palma, G Maione, G Iannuzzo, MND Di Minno, P Rubba, G Fortunato

Publication Date: 2020-01-14

Variant appearance in text: LDLR: 1775G>A; Gly592Glu

PubMed Link: 31947532

Variant Present in the following documents:

• Main text

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Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Molecular Genetics & Genomic Medicine

KHY Wong, M Levy-Sakin, W Ma, N Gonzaludo, ACY Mak, D Vaka, A Poon, C Chu, R Lao, M Balamir, Z Grenville, N Wong, JP Kane, PY Kwok, MJ Malloy, CR Pullinger

Publication Date: 2019-12

Variant appearance in text: LDLR: G592E; rs137929307

PubMed Link: 31617323

Variant Present in the following documents:

• Main text
• MGG3-7-e1007.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

A Capalbo, RA Valero, J Jimenez-Almazan, PM Pardo, M Fabiani, D Jiménez, C Simon, JM Rodriguez

Publication Date: 2019-10

Variant appearance in text: rs137929307

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s003.xlsx

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Bending of DNA duplexes with mutation motifs.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes

M Růžička, P Souček, P Kulhánek, L Radová, L Fajkusová, K Réblová

Publication Date: 2019-08-01

Variant appearance in text: LDLR: 1775G>A; Gly592Glu

PubMed Link: 31230075

Variant Present in the following documents:

• Main text
• dsz013.pdf

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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

YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson

Publication Date: 2018-12

Variant appearance in text: LDLR: 1775G>A; Gly592Glu; rs137929307

PubMed Link: 31106297

Variant Present in the following documents:

• NIHMS1512622-supplement-002192_-_Supplemental_Material.pdf

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Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.

Plos One

R Gałąska, D Kulawiak-Gałąska, M Chmara, K Chlebus, M Studniarek, M Fijałkowski, B Wasąg, A Rynkiewicz, M Gruchała

Publication Date: 2018

Variant appearance in text: LDLR: G592E

PubMed Link: 30592719

Variant Present in the following documents:

• Main text

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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

A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, C Martin

Publication Date: 2018-06-05

Variant appearance in text: LDLR: 1775G>A; Gly592Glu

PubMed Link: 29874871

Variant Present in the following documents:

• Main text

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The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal Of Biological Chemistry

D Susan-Resiga, E Girard, RS Kiss, R Essalmani, J Hamelin, MC Asselin, Z Awan, C Butkinaree, A Fleury, A Soldera, YL Dory, A Baass, NG Seidah

Publication Date: 2017-02-03

Variant appearance in text: LDLR: G592E

PubMed Link: 27998977

Variant Present in the following documents:

• Main text

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Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology

AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan

Publication Date: 2016-06-07

Variant appearance in text: LDLR: Gly592Glu

PubMed Link: 27050191

Variant Present in the following documents:

• NIHMS853613-supplement-Appendix.docx

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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental

M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries

Publication Date: 2016-03

Variant appearance in text: LDLR: Gly592Glu

PubMed Link: 26892515

Variant Present in the following documents:

• Main text

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

European Journal Of Human Genetics : Ejhg

I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert

Publication Date: 2016-02

Variant appearance in text: LDLR: 1775G>A; G592E

PubMed Link: 26036859

Variant Present in the following documents:

• Main text

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

Plos Genetics

AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz

Publication Date: 2015-02

Variant appearance in text: LDLR: G592E

PubMed Link: 25647241

Variant Present in the following documents:

• Main text
• pgen.1004855.s008.docx
• pgen.1004855.s013.docx
• pgen.1004855.s014.docx
• pgen.1004855.s018.docx
• pgen.1004855.s019.xlsx

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Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

American Journal Of Human Genetics

LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, EM Lange, JD Smith, EH Turner, G Jun, HM Kang, G Peloso, P Auer, KP Li, J Flannick, J Zhang, C Fuchsberger, K Gaulton, C Lindgren, A Locke, A Manning, X Sim, MA Rivas, OL Holmen, O Gottesman, Y Lu, D Ruderfer, EA Stahl, Q Duan, Y Li, P Durda, S Jiao, A Isaacs, A Hofman, JC Bis, A Correa, ME Griswold, J Jakobsdottir, AV Smith, PJ Schreiner, MF Feitosa, Q Zhang, JE Huffman, J Crosby, CL Wassel, R Do, N Franceschini, LW Martin, JG Robinson, TL Assimes, DR Crosslin, EA Rosenthal, M Tsai, MJ Rieder, DN Farlow, AR Folsom, T Lumley, ER Fox, CS Carlson, U Peters, RD Jackson, CM van Duijn, AG Uitterlinden, D Levy, JI Rotter, HA Taylor, V Gudnason, DS Siscovick, M Fornage, IB Borecki, C Hayward, I Rudan, YE Chen, EP Bottinger, RJ Loos, P Sætrom, K Hveem, M Boehnke, L Groop, M McCarthy, T Meitinger, CM Ballantyne, SB Gabriel, CJ O'Donnell, WS Post, KE North, AP Reiner, E Boerwinkle, BM Psaty, D Altshuler, S Kathiresan, DY Lin, GP Jarvik, LA Cupples, C Kooperberg, JG Wilson, DA Nickerson, GR Abecasis, SS Rich, RP Tracy, CJ Willer,

Publication Date: 2014-02-06

Variant appearance in text: LDLR: Gly592Glu

PubMed Link: 24507775

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Journal Of Lipid Research

M Romano, MD Di Taranto, P Mirabelli, MN D'Agostino, A Iannuzzi, G Marotta, M Gentile, M Raia, R Di Noto, L Del Vecchio, P Rubba, G Fortunato

Publication Date: 2011-11

Variant appearance in text: LDLR: 1775G>A; Gly592Glu

PubMed Link: 21865347

Variant Present in the following documents:

• Main text

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Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

Bmc Medical Genetics

R Goldmann, L Tichý, T Freiberger, P Zapletalová, O Letocha, V Soska, J Fajkus, L Fajkusová

Publication Date: 2010-07-27

Variant appearance in text: LDLR: Gly592Glu

PubMed Link: 20663204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000252444.5	c.2030G>A	p.Gly677Glu	missense_variant	12/18	-
ENST00000455727.2	c.1271G>A	p.Gly424Glu	missense_variant	10/16	-
ENST00000535915.1	c.1652G>A	p.Gly551Glu	missense_variant	11/17	-
ENST00000545707.1	c.1394G>A	p.Gly465Glu	missense_variant	11/16	-
ENST00000557933.1	c.1775G>A	p.Gly592Glu	missense_variant	12/18	-
ENST00000558013.1	c.1775G>A	p.Gly592Glu	missense_variant	12/18	-
ENST00000558518.1	c.1775G>A	p.Gly592Glu	missense_variant	12/18	-
ENST00000559340.1	c.426+716G>A	-	intron_variant,NMD_transcript_variant	-	3/4
NM_000527.5	c.1775G>A	p.Gly592Glu	missense_variant	12/18	-
NM_001195798.2	c.1775G>A	p.Gly592Glu	missense_variant	12/18	-
NM_001195799.2	c.1652G>A	p.Gly551Glu	missense_variant	11/17	-
NM_001195800.2	c.1271G>A	p.Gly424Glu	missense_variant	10/16	-
NM_001195803.2	c.1394G>A	p.Gly465Glu	missense_variant	11/16	-