Publications:

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Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience

Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y

Publication Date: 2022-11-18

Variant appearance in text: LDLR: 986G>A; Cys329Tyr

PubMed Link: 36325061

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study.

Frontiers In Cardiovascular Medicine

Chen, Yen-Ju YJ; Chen, I-Chieh IC; Chen, Yi-Ming YM; Hsiao, Tzu-Hung TH; Wei, Chia-Yi CY; Chuang, Han-Ni HN; Lin, Wei-Wen WW; Lin, Ching-Heng CH

Publication Date: 2022

Variant appearance in text: rs761954844

PubMed Link: 36172582

Variant Present in the following documents:

• Main text
• fcvm-09-994662.pdf

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Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications

Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA

Publication Date: 2022-08-30

Variant appearance in text: LDLR: 986G>A; Cys329Tyr; rs761954844

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine

Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F

Publication Date: 2022

Variant appearance in text: LDLR: C329Y

PubMed Link: 35966514

Variant Present in the following documents:

View BVdb publication page

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Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.

Frontiers In Genetics

Nurm, Miriam M; Reigo, Anu A; Nõukas, Margit M; Leitsalu, Liis L; Nikopensius, Tiit T; Palover, Marili M; Annilo, Tarmo T; Alver, Maris M; Saar, Aet A; Marandi, Toomas T; Ainla, Tiia T; Metspalu, Andres A; Esko, Tõnu T; Tõnisson, Neeme N

Publication Date: 2022

Variant appearance in text: LDLR: Cys329Tyr; rs761954844

PubMed Link: 35928446

Variant Present in the following documents:

• Main text
• fgene-13-936131.pdf

View BVdb publication page

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Analysis of the low density lipoprotein receptor gene (LDLR) mutation spectrum in Russian familial hypercholesterolemia.

Vavilovskii Zhurnal Genetiki I Selektsii

Vasilyev, V B VB; Zakharova, F M FM; Bogoslovskaya, T Yu TY; Mandelshtam, M Yu MY

Publication Date: 2022-05

Variant appearance in text: LDLR: 986G>A; Cys329Tyr; rs761954844

PubMed Link: 35774363

Variant Present in the following documents:

• VJGB-26-2238.pdf

View BVdb publication page

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Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Journal Of Personalized Medicine

Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M

Publication Date: 2021-11-19

Variant appearance in text: LDLR: 986G>A; Cys329Tyr; rs761954844

PubMed Link: 34834584

Variant Present in the following documents:

• Main text
• jpm-11-01232.pdf

View BVdb publication page

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Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.

Genes

Lee, Wen-Jane WJ; Chuang, Han-Ni HN; Chen, Yi-Ming YM; Liang, Kae-Woei KW; Tung, Hsin H; Chen, Jun-Peng JP; Lee, I-Te IT; Wang, Jun-Sing JS; Lin, Ching-Heng CH; Lin, Hsueh-Ju HJ; Sheu, Wayne Huey-Herng WH; Lee, Wen-Lieng WL; Hsiao, Tzu-Hung TH

Publication Date: 2021-09-14

Variant appearance in text: LDLR: 986G>A

PubMed Link: 34573395

Variant Present in the following documents:

• Main text
• genes-12-01413.pdf

View BVdb publication page

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Case-finding and genetic testing for familial hypercholesterolaemia in primary care.

Heart (British Cardiac Society)

Qureshi, Nadeem N; Akyea, Ralph Kwame RK; Dutton, Brittany B; Humphries, Steve E SE; Abdul Hamid, Hasidah H; Condon, Laura L; Weng, Stephen F SF; Kai, Joe J; ,

Publication Date: 2021-12

Variant appearance in text: LDLR: Cys329Tyr

PubMed Link: 34521694

Variant Present in the following documents:

• heartjnl-2021-319742supp001.pdf

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Characterization of familial hypercholesterolemia in Taiwanese ischemic stroke patients.

Aging

Tung, Hsin H; Lin, Hsueh-Ju HJ; Chen, Po-Lin PL; Lu, Tsai-Jung TJ; Jhan, Pei-Pei PP; Chen, Jun-Peng JP; Chen, Yi-Ming YM; Wu, Chen-Chin CC; Lin, Yung-Yang YY; Hsiao, Tzu-Hung TH

Publication Date: 2021-07-27

Variant appearance in text: LDLR: 986G>A

PubMed Link: 34314377

Variant Present in the following documents:

• Main text
• aging-13-203320.pdf

View BVdb publication page

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Nature Communications

Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS

Publication Date: 2021-06-09

Variant appearance in text: LDLR: 986G>A; Cys329Tyr

PubMed Link: 34108472

Variant Present in the following documents:

• 41467_2021_23556_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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: 986G>A; Cys329Tyr; rs761954844

PubMed Link: 34074024

Variant Present in the following documents:

• Main text
• jpm-11-00464.pdf

View BVdb publication page

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Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.

Journal Of Atherosclerosis And Thrombosis

Kalra, Sanjay S; Chen, Zhenyue Z; Deerochanawong, Chaicharn C; Shyu, Kou-Gi KG; Tan, Ru San RS; Tomlinson, Brian B; Yeh, Hung-I HI

Publication Date: 2021-05-01

Variant appearance in text: LDLR: Cys329Tyr

PubMed Link: 33746137

Variant Present in the following documents:

• Main text
• 28_417.pdf

View BVdb publication page

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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: LDLR: 986G>A; Cys329Tyr; rs761954844

PubMed Link: 33418990

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Biomedical Reports

Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS

Publication Date: 2021-01

Variant appearance in text: LDLR: 986G>A; Cys329Tyr; rs761954844

PubMed Link: 33269076

Variant Present in the following documents:

• Main text
• br-14-01-01391.pdf
• Supplementary_Data.pdf

View BVdb publication page

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Case Report: Cardiac Surgery and Combined Lipid-Lowering Drug Therapy for Homozygous Familial Hypercholesterolemia.

Frontiers In Pediatrics

Gao, Mingxin M; Yu, Wenyuan W; Hu, Hui H; Liu, Hongli H; Fan, Kangjun K; Gu, Chengxiong C; Wang, Lvya L; Yu, Yang Y

Publication Date: 2020

Variant appearance in text: LDLR: 986G>A; Cys329Tyr

PubMed Link: 33194883

Variant Present in the following documents:

• Main text
• fped-08-535949.pdf

View BVdb publication page

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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: 986G>A; C329Y

PubMed Link: 32793292

Variant Present in the following documents:

• Main text
• fgene-11-00833.pdf

View BVdb publication page

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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

Semenova, Anna E AE; Sergienko, Igor V IV; García-Giustiniani, Diego D; Monserrat, Lorenzo L; Popova, Anna B AB; Nozadze, Diana N DN; Ezhov, Marat V MV

Publication Date: 2020-05-14

Variant appearance in text: LDLR: 986G>A; Cys329Tyr

PubMed Link: 32423031

Variant Present in the following documents:

• Main text
• jcdd-07-00016-s001.pdf
• jcdd-07-00016.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: LDLR: 986G>A; Cys329Tyr; rs761954844

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 986G>A; Cys329Tyr

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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In silico prediction of blood cholesterol levels from genotype data.

Plos One

Reggiani, Francesco F; Carraro, Marco M; Belligoli, Anna A; Sanna, Marta M; Dal Prà, Chiara C; Favaretto, Francesca F; Ferrari, Carlo C; Vettor, Roberto R; Tosatto, Silvio C E SCE

Publication Date: 2020

Variant appearance in text: LDLR: Cys329Tyr

PubMed Link: 32040480

Variant Present in the following documents:

• pone.0227191.s001.xlsx, sheet 1

View BVdb publication page

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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 986G>A; Cys329Tyr

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

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Clinical Evaluation Of Evolocumab For The Treatment Of Homozygous Familial Hypercholesterolemia In Chinese Patients.

Therapeutics And Clinical Risk Management

Huang, Chin-Chou CC; Charng, Min-Ji MJ

Publication Date: 2019

Variant appearance in text: LDLR: C329Y

PubMed Link: 31686828

Variant Present in the following documents:

• Main text
• tcrm-15-1209.pdf

View BVdb publication page

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Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers In Physiology

Chen, Peipei P; Chen, Xi X; Zhang, Shuyang S

Publication Date: 2019

Variant appearance in text: LDLR: 986G>A; Cys329Tyr

PubMed Link: 30949068

Variant Present in the following documents:

• Main text
• fphys-10-00280.pdf

View BVdb publication page

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Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Molecular Genetics & Genomic Medicine

Chan, Melody Lok-Yi ML; Cheung, Ching-Lung CL; Lee, Alan Chun-Hong AC; Yeung, Chun-Yip CY; Siu, Chung-Wah CW; Leung, Jenny Yin-Yan JY; Pang, Ho-Kwong HK; Tan, Kathryn Choon-Beng KC

Publication Date: 2019-02

Variant appearance in text: LDLR: 986G>A

PubMed Link: 30592178

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page

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Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Journal Of The Endocrine Society

Ittisoponpisan, Sirawit S; David, Alessia A

Publication Date: 2018-08-01

Variant appearance in text: LDLR: Cys329Tyr; rs761954844

PubMed Link: 30019023

Variant Present in the following documents:

• Main text
• js.2018-00077.pdf

View BVdb publication page

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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

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: 986G>A; Cys329Tyr

PubMed Link: 29874871

Variant Present in the following documents:

• Main text
• ijms-19-01676.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LDLR: 986G>A; Cys329Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY

Publication Date: 2015-11-26

Variant appearance in text: LDLR: 986G>A

PubMed Link: 26608663

Variant Present in the following documents:

• Main text
• srep17272.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LDLR: C329Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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