Publications:

---

Pathophysiology of Cardiovascular Diseases: New Insights into Molecular Mechanisms of Atherosclerosis, Arterial Hypertension, and Coronary Artery Disease.

Biomedicines

Frąk, Weronika W; Wojtasińska, Armanda A; Lisińska, Wiktoria W; Młynarska, Ewelina E; Franczyk, Beata B; Rysz, Jacek J

Publication Date: 2022-08-10

Variant appearance in text: SVEP1: D2702G

PubMed Link: 36009488

Variant Present in the following documents:

• biomedicines-10-01938.pdf

View BVdb publication page

---

The integrin ligand SVEP1 regulates GPCR-mediated vasoconstriction via integrins α9β1 and α4β1.

British Journal Of Pharmacology

Morris, Gavin E GE; Denniff, Matthew J MJ; Karamanavi, Elisavet E; Andrews, Sarah A SA; Kostogrys, Renata B RB; Bountziouka, Vasiliki V; Ghaderi-Najafabadi, Maryam M; Shamkhi, Noor N; McConnell, George G; Kaiser, Michael A MA; Carleton, Laura L; Schofield, Christine C; Kessler, Thorsten T; Rainbow, Richard D RD; Samani, Nilesh J NJ; Webb, Thomas R TR

Publication Date: 2022-11

Variant appearance in text: SVEP1: D2702G; rs111245230

PubMed Link: 35802072

Variant Present in the following documents:

• Main text
• BPH-179-4958.pdf

View BVdb publication page

---

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: SVEP1: Asp2702Gly

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SVEP1: D2702G; rs111245230

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Coding and regulatory variants are associated with serum protein levels and disease.

Nature Communications

Emilsson, Valur V; Gudmundsdottir, Valborg V; Gudjonsson, Alexander A; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Karim, Mohd A MA; Ilkov, Marjan M; Staley, James R JR; Gudmundsson, Elias F EF; Launer, Lenore J LJ; Lindeman, Jan H JH; Morton, Nicholas M NM; Aspelund, Thor T; Lamb, John R JR; Jennings, Lori L LL; Gudnason, Vilmundur V

Publication Date: 2022-01-25

Variant appearance in text: rs111245230

PubMed Link: 35079000

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28081.pdf

View BVdb publication page

---

Coding and regulatory variants are associated with serum protein levels and disease.

Nature Communications

Emilsson, Valur V; Gudmundsdottir, Valborg V; Gudjonsson, Alexander A; Jonmundsson, Thorarinn T; Jonsson, Brynjolfur G BG; Karim, Mohd A MA; Ilkov, Marjan M; Staley, James R JR; Gudmundsson, Elias F EF; Launer, Lenore J LJ; Lindeman, Jan H JH; Morton, Nicholas M NM; Aspelund, Thor T; Lamb, John R JR; Jennings, Lori L LL; Gudnason, Vilmundur V

Publication Date: 2022-01-25

Variant appearance in text: rs111245230

PubMed Link: 35079000

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28081.pdf

View BVdb publication page

---

Polygenic risk for coronary artery disease in the Scottish and English population.

Bmc Cardiovascular Disorders

Yang, Chuhua C; Starnecker, Fabian F; Pang, Shichao S; Chen, Zhifen Z; Güldener, Ulrich U; Li, Ling L; Heinig, Matthias M; Schunkert, Heribert H

Publication Date: 2021-12-07

Variant appearance in text: rs111245230

PubMed Link: 34876023

Variant Present in the following documents:

• 12872_2021_2398_MOESM1_ESM.pdf

View BVdb publication page

---

Blood pressure lowering and risk of new-onset type 2 diabetes: an individual participant data meta-analysis.

Lancet (London, England)

Nazarzadeh, Milad M; Bidel, Zeinab Z; Canoy, Dexter D; Copland, Emma E; Wamil, Malgorzata M; Majert, Jeannette J; Smith Byrne, Karl K; Sundström, Johan J; Teo, Koon K; Davis, Barry R BR; Chalmers, John J; Pepine, Carl J CJ; Dehghan, Abbas A; Bennett, Derrick A DA; Smith, George Davey GD; Rahimi, Kazem K; ,

Publication Date: 2021-11-13

Variant appearance in text: rs111245230

PubMed Link: 34774144

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.

European Journal Of Human Genetics : Ejhg

Kuukasjärvi, Anna A; Landoni, Juan C JC; Kaukonen, Jyrki J; Juhakoski, Mika M; Auranen, Mari M; Torkkeli, Tommi T; Velagapudi, Vidya V; Suomalainen, Anu A

Publication Date: 2021-12

Variant appearance in text: SVEP1: Asp2702Gly; rs111245230

PubMed Link: 34305140

Variant Present in the following documents:

• 41431_2021_939_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.

European Journal Of Human Genetics : Ejhg

Kuukasjärvi, Anna A; Landoni, Juan C JC; Kaukonen, Jyrki J; Juhakoski, Mika M; Auranen, Mari M; Torkkeli, Tommi T; Velagapudi, Vidya V; Suomalainen, Anu A

Publication Date: 2021-12

Variant appearance in text: SVEP1: Asp2702Gly; rs111245230

PubMed Link: 34305140

Variant Present in the following documents:

• 41431_2021_939_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

SVEP1 is a human coronary artery disease locus that promotes atherosclerosis.

Science Translational Medicine

Jung, In-Hyuk IH; Elenbaas, Jared S JS; Alisio, Arturo A; Santana, Katherine K; Young, Erica P EP; Kang, Chul Joo CJ; Kachroo, Puja P; Lavine, Kory J KJ; Razani, Babak B; Mecham, Robert P RP; Stitziel, Nathan O NO

Publication Date: 2021-03-24

Variant appearance in text: SVEP1: D2702G

PubMed Link: 33762433

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Inflammation-Related Risk Loci in Genome-Wide Association Studies of Coronary Artery Disease.

Cells

Mauersberger, Carina C; Schunkert, Heribert H; Sager, Hendrik B HB

Publication Date: 2021-02-19

Variant appearance in text: rs111245230

PubMed Link: 33669721

Variant Present in the following documents:

• Main text
• cells-10-00440.pdf

View BVdb publication page

---

Functional investigation of the coronary artery disease gene SVEP1.

Basic Research In Cardiology

Winkler, Michael J MJ; Müller, Philipp P; Sharifi, Amin M AM; Wobst, Jana J; Winter, Hanna H; Mokry, Michal M; Ma, Lijiang L; van der Laan, Sander W SW; Pang, Shichao S; Miritsch, Benedikt B; Hinterdobler, Julia J; Werner, Julia J; Stiller, Barbara B; Güldener, Ulrich U; Webb, Tom R TR; Asselbergs, Folkert W FW; Björkegren, Johan L M JLM; Maegdefessel, Lars L; Schunkert, Heribert H; Sager, Hendrik B HB; Kessler, Thorsten T

Publication Date: 2020-11-13

Variant appearance in text: SVEP1: D2702G; rs111245230

PubMed Link: 33185739

Variant Present in the following documents:

• Main text
• 395_2020_Article_828.pdf

View BVdb publication page

---

Precision Medicine and Cardiovascular Health: Insights from Mendelian Randomization Analyses.

Korean Circulation Journal

Spiller, Wes W; Jung, Keum Ji KJ; Lee, Ji Young JY; Jee, Sun Ha SH

Publication Date: 2020-02

Variant appearance in text: rs111245230

PubMed Link: 31845553

Variant Present in the following documents:

• Main text
• kcj-50-91.pdf

View BVdb publication page

---

Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology

Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB

Publication Date: 2018

Variant appearance in text: rs111245230

PubMed Link: 29666641

Variant Present in the following documents:

• Main text
• IJE2018-7259704.pdf

View BVdb publication page

---

Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos.

Scientific Reports

Sofer, Tamar T; Wong, Quenna Q; Hartwig, Fernando P FP; Taylor, Kent K; Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Levy, Daniel D; Kramer, Holly H; Lange, Leslie A LA; Horta, Bernardo L BL; , ; Kerr, Kathleen F KF; Reiner, Alex P AP; Franceschini, Nora N

Publication Date: 2017-09-04

Variant appearance in text: rs111245230

PubMed Link: 28871152

Variant Present in the following documents:

• 41598_2017_9019_MOESM1_ESM.pdf

View BVdb publication page

---

Genetics of Triglycerides and the Risk of Atherosclerosis.

Current Atherosclerosis Reports

Dron, Jacqueline S JS; Hegele, Robert A RA

Publication Date: 2017-07

Variant appearance in text: SVEP1: D2702G; rs111245230

PubMed Link: 28534127

Variant Present in the following documents:

• Main text
• 11883_2017_Article_667.pdf

View BVdb publication page

---

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: SVEP1: D2702G; rs111245230

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

---

Atherosclerosis in 2016: Advances in new therapeutic targets for atherosclerosis.

Nature Reviews. Cardiology

Tang, W H Wilson WH; Hazen, Stanley L SL

Publication Date: 2017-01-17

Variant appearance in text: SVEP1: D2702G

PubMed Link: 28094270

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Bladder Cancer (Amsterdam, Netherlands)

Hoffmann, Michèle J MJ; Koutsogiannouli, Evangelia E; Skowron, Margaretha A MA; Pinkerneil, Maria M; Niegisch, Günter G; Brandt, Artur A; Stepanow, Stefanie S; Rieder, Harald H; Schulz, Wolfgang A WA

Publication Date: 2016-10-27

Variant appearance in text: SVEP1: D2702G; rs111245230

PubMed Link: 28035326

Variant Present in the following documents:

• blc-2-blc160065-s001.xlsx, sheet 2

View BVdb publication page

---

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Nature Genetics

Liu, Chunyu C; Kraja, Aldi T AT; Smith, Jennifer A JA; Brody, Jennifer A JA; Franceschini, Nora N; Bis, Joshua C JC; Rice, Kenneth K; Morrison, Alanna C AC; Lu, Yingchang Y; Weiss, Stefan S; Guo, Xiuqing X; Palmas, Walter W; Martin, Lisa W LW; Chen, Yii-Der Ida YD; Surendran, Praveen P; Drenos, Fotios F; Cook, James P JP; Auer, Paul L PL; Chu, Audrey Y AY; Giri, Ayush A; Zhao, Wei W; Jakobsdottir, Johanna J; Lin, Li-An LA; Stafford, Jeanette M JM; Amin, Najaf N; Mei, Hao H; Yao, Jie J; Voorman, Arend A; , ; , ; , ; , ; Larson, Martin G MG; Grove, Megan L ML; Smith, Albert V AV; Hwang, Shih-Jen SJ; Chen, Han H; Huan, Tianxiao T; Kosova, Gulum G; Stitziel, Nathan O NO; Kathiresan, Sekar S; Samani, Nilesh N; Schunkert, Heribert H; Deloukas, Panos P; , ; Li, Man M; Fuchsberger, Christian C; Pattaro, Cristian C; Gorski, Mathias M; , ; Kooperberg, Charles C; Papanicolaou, George J GJ; Rossouw, Jacques E JE; Faul, Jessica D JD; Kardia, Sharon L R SL; Bouchard, Claude C; Raffel, Leslie J LJ; Uitterlinden, André G AG; Franco, Oscar H OH; Vasan, Ramachandran S RS; O'Donnell, Christopher J CJ; Taylor, Kent D KD; Liu, Kiang K; Bottinger, Erwin P EP; Gottesman, Omri O; Daw, E Warwick EW; Giulianini, Franco F; Ganesh, Santhi S; Salfati, Elias E; Harris, Tamara B TB; Launer, Lenore J LJ; Dörr, Marcus M; Felix, Stephan B SB; Rettig, Rainer R; Völzke, Henry H; Kim, Eric E; Lee, Wen-Jane WJ; Lee, I-Te IT; Sheu, Wayne H-H WH; Tsosie, Krystal S KS; Edwards, Digna R Velez DR; Liu, Yongmei Y; Correa, Adolfo A; Weir, David R DR; Völker, Uwe U; Ridker, Paul M PM; Boerwinkle, Eric E; Gudnason, Vilmundur V; Reiner, Alexander P AP; van Duijn, Cornelia M CM; Borecki, Ingrid B IB; Edwards, Todd L TL; Chakravarti, Aravinda A; Rotter, Jerome I JI; Psaty, Bruce M BM; Loos, Ruth J F RJ; Fornage, Myriam M; Ehret, Georg B GB; Newton-Cheh, Christopher C; Levy, Daniel D; Chasman, Daniel I DI

Publication Date: 2016-10

Variant appearance in text: SVEP1: D2702G; rs111245230

PubMed Link: 27618448

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: SVEP1: D2702G; rs111245230

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine

Kessler, Thorsten T; Vilne, Baiba B; Schunkert, Heribert H

Publication Date: 2016-07

Variant appearance in text: SVEP1: D2702G; rs111245230

PubMed Link: 27189168

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

The New England Journal Of Medicine

, ; Stitziel, Nathan O NO; Stirrups, Kathleen E KE; Masca, Nicholas G D NG; Erdmann, Jeanette J; Ferrario, Paola G PG; König, Inke R IR; Weeke, Peter E PE; Webb, Thomas R TR; Auer, Paul L PL; Schick, Ursula M UM; Lu, Yingchang Y; Zhang, He H; Dube, Marie-Pierre MP; Goel, Anuj A; Farrall, Martin M; Peloso, Gina M GM; Won, Hong-Hee HH; Do, Ron R; van Iperen, Erik E; Kanoni, Stavroula S; Kruppa, Jochen J; Mahajan, Anubha A; Scott, Robert A RA; Willenberg, Christina C; Braund, Peter S PS; van Capelleveen, Julian C JC; Doney, Alex S F AS; Donnelly, Louise A LA; Asselta, Rosanna R; Merlini, Piera A PA; Duga, Stefano S; Marziliano, Nicola N; Denny, Josh C JC; Shaffer, Christian M CM; El-Mokhtari, Nour Eddine NE; Franke, Andre A; Gottesman, Omri O; Heilmann, Stefanie S; Hengstenberg, Christian C; Hoffman, Per P; Holmen, Oddgeir L OL; Hveem, Kristian K; Jansson, Jan-Håkan JH; Jöckel, Karl-Heinz KH; Kessler, Thorsten T; Kriebel, Jennifer J; Laugwitz, Karl L KL; Marouli, Eirini E; Martinelli, Nicola N; McCarthy, Mark I MI; Van Zuydam, Natalie R NR; Meisinger, Christa C; Esko, Tõnu T; Mihailov, Evelin E; Escher, Stefan A SA; Alver, Maris M; Moebus, Susanne S; Morris, Andrew D AD; Müller-Nurasyid, Martina M; Nikpay, Majid M; Olivieri, Oliviero O; Lemieux Perreault, Louis-Philippe LP; AlQarawi, Alaa A; Robertson, Neil R NR; Akinsanya, Karen O KO; Reilly, Dermot F DF; Vogt, Thomas F TF; Yin, Wu W; Asselbergs, Folkert W FW; Kooperberg, Charles C; Jackson, Rebecca D RD; Stahl, Eli E; Strauch, Konstantin K; Varga, Tibor V TV; Waldenberger, Melanie M; Zeng, Lingyao L; Kraja, Aldi T AT; Liu, Chunyu C; Ehret, George B GB; Newton-Cheh, Christopher C; Chasman, Daniel I DI; Chowdhury, Rajiv R; Ferrario, Marco M; Ford, Ian I; Jukema, J Wouter JW; Kee, Frank F; Kuulasmaa, Kari K; Nordestgaard, Børge G BG; Perola, Markus M; Saleheen, Danish D; Sattar, Naveed N; Surendran, Praveen P; Tregouet, David D; Young, Robin R; Howson, Joanna M M JM; Butterworth, Adam S AS; Danesh, John J; Ardissino, Diego D; Bottinger, Erwin P EP; Erbel, Raimund R; Franks, Paul W PW; Girelli, Domenico D; Hall, Alistair S AS; Hovingh, G Kees GK; Kastrati, Adnan A; Lieb, Wolfgang W; Meitinger, Thomas T; Kraus, William E WE; Shah, Svati H SH; McPherson, Ruth R; Orho-Melander, Marju M; Melander, Olle O; Metspalu, Andres A; Palmer, Colin N A CN; Peters, Annette A; Rader, Daniel D; Reilly, Muredach P MP; Loos, Ruth J F RJ; Reiner, Alex P AP; Roden, Dan M DM; Tardif, Jean-Claude JC; Thompson, John R JR; Wareham, Nicholas J NJ; Watkins, Hugh H; Willer, Cristen J CJ; Kathiresan, Sekkar S; Deloukas, Panos P; Samani, Nilesh J NJ; Schunkert, Heribert H

Publication Date: 2016-03-24

Variant appearance in text: SVEP1: D2702G; rs111245230

PubMed Link: 26934567

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: SVEP1: D2702G; rs111245230

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---