Publications:

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Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine

CE Vlad, LG Foia, R Popescu, I Popa, R Aanicai, D Reurean-Pintilei, V Toma, L Florea, M Kanbay, A Covic

Publication Date: 2021-03-31

Variant appearance in text: LDLR: 1617C>T; Pro539=

PubMed Link: 33807407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Plos One

M Hayat, R Kerr, AR Bentley, CN Rotimi, FJ Raal, M Ramsay

Publication Date: 2020

Variant appearance in text: rs5929

PubMed Link: 32084179

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs5929

PubMed Link: 26892515

Variant Present in the following documents:

• mmc1.doc

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

Publication Date: 2015-06-26

Variant appearance in text: rs5929

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls

View BVdb publication page

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Apolipoprotein E and protection against hepatitis E viral infection in American non-Hispanic blacks.

Hepatology (Baltimore, Md.)

L Zhang, A Yesupriya, MH Chang, E Teshale, CG Teo

Publication Date: 2015-11

Variant appearance in text: rs5929

PubMed Link: 26096528

Variant Present in the following documents:

• NIHMS1043972-supplement-Supplemental.pdf

View BVdb publication page

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Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene

T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima

Publication Date: 2014-12

Variant appearance in text: LDLR: Pro539Pro; rs5929

PubMed Link: 25606447

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing for the identification of susceptibility genes of Kashin-Beck disease.

Plos One

Z Yang, Y Xu, H Luo, X Ma, Q Wang, Y Wang, W Deng, T Jiang, G Sun, T He, J Hu, Y Li, J Wang, T Li, X Hu

Publication Date: 2014

Variant appearance in text: rs5929

PubMed Link: 24776925

Variant Present in the following documents:

• pone.0092298.s005.xlsx

View BVdb publication page

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Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics

TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam

Publication Date: 2013-12-27

Variant appearance in text: LDLR: 1617C>T; Pro539=

PubMed Link: 24373485

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries

Publication Date: 2013-06-05

Variant appearance in text: LDLR: 1617C>T

PubMed Link: 23535506

Variant Present in the following documents:

• mmc1.docx
• Main text

View BVdb publication page

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Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium.

Plos Genetics

B Pasaniuc, N Zaitlen, G Lettre, GK Chen, A Tandon, WH Kao, I Ruczinski, M Fornage, DS Siscovick, X Zhu, E Larkin, LA Lange, LA Cupples, Q Yang, EL Akylbekova, SK Musani, J Divers, J Mychaleckyj, M Li, GJ Papanicolaou, RC Millikan, CB Ambrosone, EM John, L Bernstein, W Zheng, JJ Hu, RG Ziegler, SJ Nyante, EV Bandera, SA Ingles, MF Press, SJ Chanock, SL Deming, JL Rodriguez-Gil, CD Palmer, S Buxbaum, L Ekunwe, JN Hirschhorn, BE Henderson, S Myers, CA Haiman, D Reich, N Patterson, JG Wilson, AL Price

Publication Date: 2011-04

Variant appearance in text: rs5929

PubMed Link: 21541012

Variant Present in the following documents:

• pgen.1001371.s008.doc

View BVdb publication page

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Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics

A Al-Khateeb, MK Zahri, MS Mohamed, TH Sasongko, S Ibrahim, Z Yusof, BA Zilfalil

Publication Date: 2011-03-19

Variant appearance in text: LDLR: 1617C>T; Pro539Pro; rs5929

PubMed Link: 21418584

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.

Journal Of Lipid Research

I Miljkovic, LM Yerges-Armstrong, LH Kuller, AL Kuipers, X Wang, CM Kammerer, CS Nestlerode, CH Bunker, AL Patrick, VW Wheeler, RW Evans, JM Zmuda

Publication Date: 2010-07

Variant appearance in text: rs5929

PubMed Link: 20308432

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.1872C>T	p.Pro624=	synonymous_variant	11/18	-
ENST00000455727.2	c.1113C>T	p.Pro371=	synonymous_variant	9/16	-
ENST00000535915.1	c.1494C>T	p.Pro498=	synonymous_variant	10/17	-
ENST00000545707.1	c.1236C>T	p.Pro412=	synonymous_variant	10/16	-
ENST00000557933.1	c.1617C>T	p.Pro539=	synonymous_variant	11/18	-
ENST00000558013.1	c.1617C>T	p.Pro539=	synonymous_variant	11/18	-
ENST00000558518.1	c.1617C>T	p.Pro539=	synonymous_variant	11/18	-
ENST00000559340.1	c.339C>T	p.Pro113=	synonymous_variant,NMD_transcript_variant	3/5	-
NM_000527.5	c.1617C>T	p.Pro539=	synonymous_variant	11/18	-
NM_001195798.2	c.1617C>T	p.Pro539=	synonymous_variant	11/18	-
NM_001195799.2	c.1494C>T	p.Pro498=	synonymous_variant	10/17	-
NM_001195800.2	c.1113C>T	p.Pro371=	synonymous_variant	9/16	-
NM_001195803.2	c.1236C>T	p.Pro412=	synonymous_variant	10/16	-