Publications:

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Association of cluster determinant 36, scavenger receptor class B type 1, and major facilitator superfamily domain containing the 2a genetic polymorphism with serum lipid profile in aging population with type 2 diabetes mellitus.

Frontiers In Nutrition

Wang, Xixiang X; Ma, Xiaojun X; Xu, Jingjing J; Guo, Yujie Y; Zhou, Shaobo S; Yu, Huiyan H; Yuan, Linhong L

Publication Date: 2022

Variant appearance in text: rs4238001

PubMed Link: 36185686

Variant Present in the following documents:

• Main text
• fnut-09-981200.pdf

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Identification of genetic variants related to metabolic syndrome by next-generation sequencing.

Diabetology & Metabolic Syndrome

Lee, Sanghoo S; Kim, Seol-A SA; Hong, Jeonghoon J; Kim, Yejin Y; Hong, Gayeon G; Baik, SaeYun S; Choi, Kyeonghwan K; Lee, Mi-Kyeong MK; Lee, Kyoung-Ryul KR

Publication Date: 2022-08-23

Variant appearance in text: SCARB1: 4G>A; rs4238001

PubMed Link: 35999587

Variant Present in the following documents:

• Main text
• 13098_2022_Article_893.pdf

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: SCARB1: G2S; rs4238001

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Genetic Variations of Vitamin A-Absorption and Storage-Related Genes, and Their Potential Contribution to Vitamin A Deficiency Risks Among Different Ethnic Groups.

Frontiers In Nutrition

Suzuki, Masako M; Tomita, Meika M

Publication Date: 2022

Variant appearance in text: rs4238001

PubMed Link: 35571879

Variant Present in the following documents:

• Main text
• fnut-09-861619.pdf

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Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: SCARB1: Gly2Ser; rs4238001

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

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Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Circulation. Genomic And Precision Medicine

Coassin, Stefan S; Chemello, Kevin K; Khantalin, Ilya I; Forer, Lukas L; Döttelmayer, Patricia P; Schönherr, Sebastian S; Grüneis, Rebecca R; Chong-Hong-Fong, Clément C; Nativel, Brice B; Ramin-Mangata, Stéphane S; Gallo, Antonio A; Roche, Mathias M; Muelegger, Beatrix B; Gieger, Christian C; Peters, Annette A; Zschocke, Johannes J; Marimoutou, Catherine C; Meilhac, Olivier O; Lamina, Claudia C; Kronenberg, Florian F; Blanchard, Valentin V; Lambert, Gilles G

Publication Date: 2022-04

Variant appearance in text: rs4238001

PubMed Link: 35133173

Variant Present in the following documents:

• hcg-15-e003489-s001.pdf

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Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Journal Of Cardiovascular Development And Disease

Rozhkova, Alexandra V AV; Dmitrieva, Veronika G VG; Nosova, Elena V EV; Dergunov, Alexander D AD; Limborska, Svetlana A SA; Dergunova, Liudmila V LV

Publication Date: 2021-12-02

Variant appearance in text: rs4238001

PubMed Link: 34940525

Variant Present in the following documents:

• Main text
• jcdd-08-00170.pdf

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Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Journal Of Cardiovascular Development And Disease

Rozhkova, Alexandra V AV; Dmitrieva, Veronika G VG; Nosova, Elena V EV; Dergunov, Alexander D AD; Limborska, Svetlana A SA; Dergunova, Liudmila V LV

Publication Date: 2021-12-02

Variant appearance in text: rs4238001

PubMed Link: 34940525

Variant Present in the following documents:

• Main text
• jcdd-08-00170.pdf

View BVdb publication page

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Unraveling the Complexity of HDL Remodeling: On the Hunt to Restore HDL Quality.

Biomedicines

Schoch, Leonie L; Badimon, Lina L; Vilahur, Gemma G

Publication Date: 2021-07-12

Variant appearance in text: rs4238001

PubMed Link: 34356869

Variant Present in the following documents:

• Main text
• biomedicines-09-00805.pdf

View BVdb publication page

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SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies.

Biomedicines

Irene, Gracia-Rubio GR; César, Martín M; Fernando, Civeira C; Ana, Cenarro C

Publication Date: 2021-05-27

Variant appearance in text: SCARB1: 4G>A

PubMed Link: 34072125

Variant Present in the following documents:

• Main text
• biomedicines-09-00612.pdf

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SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies.

Biomedicines

Gracia-Rubio, Irene I; Martín, César C; Civeira, Fernando F; Cenarro, Ana A

Publication Date: 2021-05-27

Variant appearance in text: SCARB1: 4G>A

PubMed Link: 34072125

Variant Present in the following documents:

• Main text
• biomedicines-09-00612.pdf

View BVdb publication page

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High HDL-Cholesterol Paradox: SCARB1-LAG3-HDL Axis.

Current Atherosclerosis Reports

Rodriguez, Annabelle A

Publication Date: 2021-01-05

Variant appearance in text: rs4238001

PubMed Link: 33398433

Variant Present in the following documents:

• 11883_2020_Article_902.pdf

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: SCARB1: 4G>A; Gly2Ser

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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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs4238001

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Identification for Non-Communicable Disease: Findings from 20 Years of the Tehran Lipid and Glucose Study.

International Journal Of Endocrinology And Metabolism

Daneshpour, Maryam S MS; Hedayati, Mehdi M; Sedaghati-Khayat, Bahareh B; Guity, Kamran K; Zarkesh, Maryam M; Akbarzadeh, Mahdi M; Javanrooh, Niloofar N; Zadeh-Vakili, Azita A; Azizi, Fereidoun F

Publication Date: 2018-10

Variant appearance in text: rs4238001

PubMed Link: 30584432

Variant Present in the following documents:

• Main text

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Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.

Nutrients

Galmés, Sebastià S; Serra, Francisca F; Palou, Andreu A

Publication Date: 2018-12-04

Variant appearance in text: rs4238001

PubMed Link: 30518135

Variant Present in the following documents:

• Main text
• nutrients-10-01919.pdf

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs4238001

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver

Steba, Gaby S GS; Koekkoek, Sylvie M SM; Tanck, Michael W T MWT; Vanhommerig, Joost W JW; van der Meer, Jan T M JTM; Kwa, David D; Brinkman, Kees K; Prins, Maria M; Berkhout, Ben B; Pollakis, Georgios G; Molenkamp, Richard R; Schinkel, Janke J; Paxton, William A WA; ,

Publication Date: 2019-03

Variant appearance in text: rs4238001

PubMed Link: 30260075

Variant Present in the following documents:

• Main text
• LIV-39-463.pdf

View BVdb publication page

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Scavenger receptor B type 1: expression, molecular regulation, and cholesterol transport function.

Journal Of Lipid Research

Shen, Wen-Jun WJ; Asthana, Shailendra S; Kraemer, Fredric B FB; Azhar, Salman S

Publication Date: 2018-07

Variant appearance in text: SCARB1: 4G>A

PubMed Link: 29720388

Variant Present in the following documents:

• Main text

View BVdb publication page

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APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism.

Bmc Gastroenterology

Harada, Rie R; Kimura, Masako M; Sato, Yasushi Y; Taniguchi, Tatsuya T; Tomonari, Tetsu T; Tanaka, Takahiro T; Tanaka, Hironori H; Muguruma, Naoki N; Shinomiya, Hirohiko H; Honda, Hirohito H; Imoto, Issei I; Sogabe, Masahiro M; Okahisa, Toshiya T; Takayama, Tetsuji T

Publication Date: 2018-01-30

Variant appearance in text: rs4238001

PubMed Link: 29382324

Variant Present in the following documents:

• Main text
• 12876_2018_Article_747.pdf

View BVdb publication page

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Single amino acid mutation of SR-BI decreases infectivity of hepatitis C virus derived from cell culture in a cell culture model.

World Journal Of Gastroenterology

Gao, Rong R; Gao, Wei W; Xu, Gang G; Xu, Jie J; Ren, Hao H

Publication Date: 2017-07-28

Variant appearance in text: rs4238001

PubMed Link: 28811710

Variant Present in the following documents:

• Main text
• WJG-23-5158.pdf

View BVdb publication page

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Plos One

Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A

Publication Date: 2017

Variant appearance in text: SCARB1: 4G>A; Gly2Ser

PubMed Link: 28472130

Variant Present in the following documents:

• pone.0176516.s002.xlsx, sheet 1

View BVdb publication page

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Genetic Variations Involved in Vitamin E Status.

International Journal Of Molecular Sciences

Borel, Patrick P; Desmarchelier, Charles C

Publication Date: 2016-12-13

Variant appearance in text: rs4238001

PubMed Link: 27983595

Variant Present in the following documents:

• Main text
• ijms-17-02094.pdf

View BVdb publication page

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Lymphocyte activation gene 3 and coronary artery disease.

Jci Insight

Golden, Diana D; Kolmakova, Antonina A; Sura, Sunitha S; Vella, Anthony T AT; Manichaikul, Ani A; Wang, Xin-Qun XQ; Bielinski, Suzette J SJ; Taylor, Kent D KD; Chen, Yii-Der Ida YI; Rich, Stephen S SS; Rodriguez, Annabelle A

Publication Date: 2016-10-20

Variant appearance in text: rs4238001

PubMed Link: 27777974

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4238001

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study.

Bmc Medical Genetics

Niemsiri, Vipavee V; Wang, Xingbin X; Pirim, Dilek D; Radwan, Zaheda H ZH; Bunker, Clareann H CH; Barmada, M Michael MM; Kamboh, M Ilyas MI; Demirci, F Yesim FY

Publication Date: 2015-11-12

Variant appearance in text: rs4238001

PubMed Link: 26563154

Variant Present in the following documents:

• Main text
• 12881_2015_250_MOESM3_ESM.pdf
• 12881_2015_Article_250.pdf

View BVdb publication page

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Association of the Lipoprotein Receptor SCARB1 Common Missense Variant rs4238001 with Incident Coronary Heart Disease.

Plos One

Manichaikul, Ani A; Wang, Xin-Qun XQ; Musani, Solomon K SK; Herrington, David M DM; Post, Wendy S WS; Wilson, James G JG; Rich, Stephen S SS; Rodriguez, Annabelle A

Publication Date: 2015

Variant appearance in text: SCARB1: Gly2Ser; rs4238001

PubMed Link: 25993026

Variant Present in the following documents:

• Main text
• pone.0125497.pdf

View BVdb publication page

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Human scavenger receptor class B type I variants, lipid traits, and cardiovascular disease.

Circulation. Cardiovascular Genetics

Vickers, Kasey C KC; Rodriguez, Annabelle A

Publication Date: 2014-12

Variant appearance in text: rs4238001

PubMed Link: 25516621

Variant Present in the following documents:

• Main text

View BVdb publication page

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Excess cholesterol induces mouse egg activation and may cause female infertility.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Yesilaltay, Ayce A; Dokshin, Gregoriy A GA; Busso, Dolores D; Wang, Li L; Galiani, Dalia D; Chavarria, Tony T; Vasile, Eliza E; Quilaqueo, Linda L; Orellana, Juan Andrés JA; Walzer, Dalia D; Shalgi, Ruth R; Dekel, Nava N; Albertini, David F DF; Rigotti, Attilio A; Page, David C DC; Krieger, Monty M

Publication Date: 2014-11-18

Variant appearance in text: rs4238001

PubMed Link: 25368174

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of genetic variants in human scavenger receptor class B type I (SCARB1) on plasma lipid traits.

Circulation. Cardiovascular Genetics

Niemsiri, Vipavee V; Wang, Xingbin X; Pirim, Dilek D; Radwan, Zaheda H ZH; Hokanson, John E JE; Hamman, Richard F RF; Barmada, M Michael MM; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2014-12

Variant appearance in text: rs4238001

PubMed Link: 25245032

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic alterations affecting cholesterol metabolism and human fertility.

Biology Of Reproduction

DeAngelis, Anthony M AM; Roy-O'Reilly, Meaghan M; Rodriguez, Annabelle A

Publication Date: 2014-11

Variant appearance in text: rs4238001

PubMed Link: 25122065

Variant Present in the following documents:

• Main text

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs4238001

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Genetic determinants of macular pigments in women of the Carotenoids in Age-Related Eye Disease Study.

Investigative Ophthalmology & Visual Science

Meyers, Kristin J KJ; Johnson, Elizabeth J EJ; Bernstein, Paul S PS; Iyengar, Sudha K SK; Engelman, Corinne D CD; Karki, Chitra K CK; Liu, Zhe Z; Igo, Robert P RP; Truitt, Barbara B; Klein, Michael L ML; Snodderly, D Max DM; Blodi, Barbara A BA; Gehrs, Karen M KM; Sarto, Gloria E GE; Wallace, Robert B RB; Robinson, Jennifer J; LeBlanc, Erin S ES; Hageman, Gregory G; Tinker, Lesley L; Mares, Julie A JA

Publication Date: 2013-03-28

Variant appearance in text: rs4238001

PubMed Link: 23404124

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology

Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL

Publication Date: 2011-07-10

Variant appearance in text: rs4238001

PubMed Link: 22229114

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of scavenger receptor class B type I polymorphisms with subclinical atherosclerosis: the Multi-Ethnic Study of Atherosclerosis.

Circulation. Cardiovascular Genetics

Naj, Adam C AC; West, Michael M; Rich, Stephen S SS; Post, Wendy W; Kao, W H Linda WH; Wasserman, Bruce A BA; Herrington, David M DM; Rodriguez, Annabelle A

Publication Date: 2010-02

Variant appearance in text: rs4238001

PubMed Link: 20160195

Variant Present in the following documents:

• Main text

View BVdb publication page

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A synonymous variant in scavenger receptor, class B, type I gene is associated with lower SR-BI protein expression and function.

Atherosclerosis

Constantineau, Jason J; Greason, Erin E; West, Michael M; Filbin, Megan M; Kieft, Jeffrey S JS; Carletti, Martha Z MZ; Christenson, Lane K LK; Rodriguez, Annabelle A

Publication Date: 2010-05

Variant appearance in text: rs4238001

PubMed Link: 20060115

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disparities in allele frequencies and population differentiation for 101 disease-associated single nucleotide polymorphisms between Puerto Ricans and non-Hispanic whites.

Bmc Genetics

Mattei, Josiemer J; Parnell, Laurence D LD; Lai, Chao-Qiang CQ; Garcia-Bailo, Bibiana B; Adiconis, Xian X; Shen, Jian J; Arnett, Donna D; Demissie, Serkalem S; Tucker, Katherine L KL; Ordovas, Jose M JM

Publication Date: 2009-08-14

Variant appearance in text: rs4238001

PubMed Link: 19682384

Variant Present in the following documents:

View BVdb publication page

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Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women.

Clinical Endocrinology

Lamon-Fava, Stefania S; Asztalos, Bela F BF; Howard, Timothy D TD; Reboussin, David M DM; Horvath, Katalin V KV; Schaefer, Ernst J EJ; Herrington, David M DM

Publication Date: 2010-02

Variant appearance in text: rs4238001

PubMed Link: 19489872

Variant Present in the following documents:

• Main text

View BVdb publication page

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Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia.

The Journal Of Clinical Endocrinology And Metabolism

West, Michael M; Greason, Erin E; Kolmakova, Antonina A; Jahangiri, Anisa A; Asztalos, Bela B; Pollin, Toni I TI; Rodriguez, Annabelle A

Publication Date: 2009-04

Variant appearance in text: rs4238001

PubMed Link: 19158204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

Experimental Gerontology

Boes, Eva E; Coassin, Stefan S; Kollerits, Barbara B; Heid, Iris M IM; Kronenberg, Florian F

Publication Date: 2009-03

Variant appearance in text: rs4238001

PubMed Link: 19041386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in scavenger receptor class B type I gene are associated with HDL cholesterol levels in younger women.

Human Heredity

Roberts, Caroline G P CG; Shen, Haiqing H; Mitchell, Braxton D BD; Damcott, Coleen M CM; Shuldiner, Alan R AR; Rodriguez, Annabelle A

Publication Date: 2007

Variant appearance in text: rs4238001

PubMed Link: 17476110

Variant Present in the following documents:

• Main text

View BVdb publication page

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