Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: SCARB1: V135I

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: SCARB1: V135I; rs5891

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

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SR-B1's Next Top Model: Structural Perspectives on the Functions of the HDL Receptor.

Current Atherosclerosis Reports

Powers, Hayley R HR; Sahoo, Daisy D

Publication Date: 2022-02-02

Variant appearance in text: SCARB1: V135I

PubMed Link: 35107765

Variant Present in the following documents:

• Main text
• 11883_2022_Article_1001.pdf

View BVdb publication page

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SR-B1's Next Top Model: Structural Perspectives on the Functions of the HDL Receptor.

Current Atherosclerosis Reports

Powers, Hayley R HR; Sahoo, Daisy D

Publication Date: 2022-04

Variant appearance in text: SCARB1: V135I

PubMed Link: 35107765

Variant Present in the following documents:

• Main text
• 11883_2022_Article_1001.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: 403G>A; Val135Ile

PubMed Link: 34072125

Variant Present in the following documents:

• Main text
• biomedicines-09-00612.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

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

Publication Date: 2021-05-27

Variant appearance in text: SCARB1: 403G>A; Val135Ile

PubMed Link: 34072125

Variant Present in the following documents:

• Main text
• biomedicines-09-00612.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: 403G>A; Val135Ile

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: rs5891

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: SCARB1: V135I; rs5891

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SCARB1: V135I; rs5891

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

European Heart Journal

Helgadottir, Anna A; Sulem, Patrick P; Thorgeirsson, Gudmundur G; Gretarsdottir, Solveig S; Thorleifsson, Gudmar G; Jensson, Brynjar Ö BÖ; Arnadottir, Gudny A GA; Olafsson, Isleifur I; Eyjolfsson, Gudmundur I GI; Sigurdardottir, Olof O; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Holm, Hilma H; Stefansson, Kari K

Publication Date: 2018-06-14

Variant appearance in text: SCARB1: V135I; rs5891

PubMed Link: 29596577

Variant Present in the following documents:

• Main text
• ehy169.pdf

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: SCARB1: V135I; rs5891

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: SCARB1: V135I; rs5891

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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: rs5891

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Identification of Variants of Hepatitis C Virus (HCV) Entry Factors in Patients Highly Exposed to HCV but Remaining Uninfected: An ANRS Case-Control Study.

Plos One

Fouquet, Baptiste B; Ghosn, Jade J; Quertainmont, Yann Y; Salmon, Dominique D; Rioux, Christophe C; Duvivier, Claudine C; Delfraissy, Jean-François JF; Misrahi, Micheline M

Publication Date: 2015

Variant appearance in text: SCARB1: 403G>A; Val135Ile; rs5891

PubMed Link: 26571379

Variant Present in the following documents:

• Main text

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: rs5891

PubMed Link: 26563154

Variant Present in the following documents:

• Main text
• 12881_2015_250_MOESM3_ESM.pdf
• 12881_2015_Article_250.pdf
• 12881_2015_250_MOESM9_ESM.pdf
• 12881_2015_250_MOESM16_ESM.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: SCARB1: V135I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: SCARB1: V135I; rs5891

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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: rs5891

PubMed Link: 25516621

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SCARB1: V135I; rs5891

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: SCARB1: Val135Ile; rs5891

PubMed Link: 25245032

Variant Present in the following documents:

• Main text

View BVdb publication page

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Susceptibility gene for stroke or cerebral infarction in the Han population in Hunan Province of China.

Neural Regeneration Research

Mo, Danheng D; Xu, Hongwei H; Zhou, Wensheng W; Yang, Qiming Q; Yang, Jianwen J; Xiao, Bo B; Yang, Qidong Q

Publication Date: 2013-06-05

Variant appearance in text: CLA-1: Val135Ile

PubMed Link: 25206448

Variant Present in the following documents:

• NRR-8-1519.pdf

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: SCARB1: V135I; rs5891

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Gene-gene combination effect and interactions among ABCA1, APOA1, SR-B1, and CETP polymorphisms for serum high-density lipoprotein-cholesterol in the Japanese population.

Plos One

Nakamura, Akihiko A; Niimura, Hideshi H; Kuwabara, Kazuyo K; Takezaki, Toshiro T; Morita, Emi E; Wakai, Kenji K; Hamajima, Nobuyuki N; Nishida, Yuichiro Y; Turin, Tanvir Chowdhury TC; Suzuki, Sadao S; Ohnaka, Keizo K; Uemura, Hirokazu H; Ozaki, Etsuko E; Hosono, Satoyo S; Mikami, Haruo H; Kubo, Michiaki M; Tanaka, Hideo H

Publication Date: 2013

Variant appearance in text: SRB1: V135I; rs5891

PubMed Link: 24376512

Variant Present in the following documents:

• Main text
• pone.0082046.pdf

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: rs5891

PubMed Link: 22229114

Variant Present in the following documents:

• Main text

View BVdb publication page

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Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology

Wakai, Kenji K; Hamajima, Nobuyuki N; Okada, Rieko R; Naito, Mariko M; Morita, Emi E; Hishida, Asahi A; Kawai, Sayo S; Nishio, Kazuko K; Yin, Guang G; Asai, Yatami Y; Matsuo, Keitaro K; Hosono, Satoyo S; Ito, Hidemi H; Watanabe, Miki M; Kawase, Takakazu T; Suzuki, Takeshi T; Tajima, Kazuo K; Tanaka, Keitaro K; Higaki, Yasuki Y; Hara, Megumi M; Imaizumi, Takeshi T; Taguchi, Naoto N; Nakamura, Kazuyo K; Nanri, Hinako H; Sakamoto, Tatsuhiko T; Horita, Mikako M; Shinchi, Koichi K; Kita, Yoshikuni Y; Turin, Tanvir Chowdhury TC; Rumana, Nahid N; Matsui, Kenji K; Miura, Katsuyuki K; Ueshima, Hirotsugu H; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Suzuki, Sadao S; Ando, Ryosuke R; Hosono, Akihiro A; Imaeda, Nahomi N; Shibata, Kiyoshi K; Goto, Chiho C; Hattori, Nami N; Fukatsu, Mitsuru M; Yamada, Tamaki T; Tokudome, Shinkan S; Takezaki, Toshiro T; Niimura, Hideshi H; Hirasada, Kazuyo K; Nakamura, Akihiko A; Tatebo, Masaya M; Ogawa, Shin S; Tsunematsu, Noriko N; Chiba, Shirabe S; Mikami, Haruo H; Kono, Suminori S; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Watanabe, Yoshiyuki Y; Ozaki, Etsuko E; Shigeta, Masako M; Kuriyama, Nagato N; Yoshikawa, Aya A; Matsui, Daisuke D; Watanabe, Isao I; Inoue, Kaoru K; Ozasa, Kotaro K; Mitani, Satoko S; Arisawa, Kokichi K; Uemura, Hirokazu H; Hiyoshi, Mineyoshi M; Takami, Hidenobu H; Yamaguchi, Miwa M; Nakamoto, Mariko M; Takeda, Hideo H; Kubo, Michiaki M; Tanaka, Hideo H; ,

Publication Date: 2011

Variant appearance in text: SCARB1: Val135Ile; rs5891

PubMed Link: 21467728

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of candidate genes for macular telangiectasia type 2.

Molecular Vision

Parmalee, Nancy L NL; Schubert, Carl C; Merriam, Joanna E JE; Allikmets, Kaija K; Bird, Alan C AC; Gillies, Mark C MC; Peto, Tunde T; Figueroa, Maria M; Friedlander, Martin M; Fruttiger, Marcus M; Greenwood, John J; Moss, Stephen E SE; Smith, Lois E H LE; Toomes, Carmel C; Inglehearn, Chris F CF; Allikmets, Rando R

Publication Date: 2010-12-14

Variant appearance in text: SCARB1: Val135Ile; rs5891

PubMed Link: 21179236

Variant Present in the following documents:

• Main text
• mv-v16-2718.pdf

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: SCARB1: V135I; rs5891

PubMed Link: 20160195

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: rs5891

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: rs5891

PubMed Link: 17476110

Variant Present in the following documents:

• Main text

View BVdb publication page

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