Publications:

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The Epithelial Sodium Channel-An Underestimated Drug Target.

International Journal Of Molecular Sciences

Lemmens-Gruber, Rosa R; Tzotzos, Susan S

Publication Date: 2023-04-24

Variant appearance in text: SCNN1A: Trp493Arg

PubMed Link: 37175488

Variant Present in the following documents:

• Main text
• ijms-24-07775.pdf

View BVdb publication page

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Kidney ion handling genes and their interaction in blood pressure control.

Bioscience Reports

An, Caiyan C; Yang, Liuyi L; Han, Tengfei T; Song, Huazhong H; Li, Zichao Z; Zhang, Junjing J; Zhang, Kejin K

Publication Date: 2022-11-30

Variant appearance in text: SCNN1A: W493R

PubMed Link: 36305246

Variant Present in the following documents:

• Main text
• bsr-42-bsr20220977.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs5742912

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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The Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.

Biomedicines

Lin, Shiuan-Chen SC; Ma, Chun C; Chang, Kao-Jung KJ; Cheong, Han-Ping HP; Lee, Ming-Cheng MC; Lan, Yuan-Tzu YT; Wang, Chien-Ying CY; Chiou, Shih-Hwa SH; Huo, Teh-Ia TI; Hsu, Tsui-Kang TK; Tsai, Ping-Hsing PH; Yang, Yi-Ping YP

Publication Date: 2022-09-02

Variant appearance in text: SCNN1: W493R

PubMed Link: 36140271

Variant Present in the following documents:

• Main text
• biomedicines-10-02169.pdf

View BVdb publication page

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Genetic overlap between temporomandibular disorders and primary headaches: A systematic review.

The Japanese Dental Science Review

Cruz, Diogo D; Monteiro, Francisca F; Paço, Maria M; Vaz-Silva, Manuel M; Lemos, Carolina C; Alves-Ferreira, Miguel M; Pinho, Teresa T

Publication Date: 2022-11

Variant appearance in text: rs5742912

PubMed Link: 35242249

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: SCNN1A: W493R; rs5742912

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: SCNN1A: 1477T>C; Trp493Arg; rs5742912

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.

Bmj Open Respiratory Research

Minso, Rebecca R; Schulz, Angela A; Dopfer, Christian C; Alfeis, Nadine N; Barneveld, Andrea van AV; Makartian-Gyulumyan, Lena L; Hansen, Gesine G; Junge, Sibylle S; Müller, Carsten C; Ringshausen, Felix C C FCC; Sauer-Heilborn, Annette A; Stanke, Frauke F; Stolpe, Cornelia C; Tamm, Stephanie S; Welte, Tobias T; Dittrich, Anna-Maria AM; Tümmler, Burkhard B

Publication Date: 2020-10

Variant appearance in text: SCNN1A: W493R

PubMed Link: 33020115

Variant Present in the following documents:

• bmjresp-2020-000736supp001.xlsx, sheet 1

View BVdb publication page

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association

Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA

Publication Date: 2020-10-20

Variant appearance in text: rs5742912

PubMed Link: 33003980

Variant Present in the following documents:

• JAH3-9-e016799-s001.pdf

View BVdb publication page

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Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating.

The Journal Of Biological Chemistry

Wang, Xueqi X; Chen, Jingxin J; Shi, Shujie S; Sheng, Shaohu S; Kleyman, Thomas R TR

Publication Date: 2019-11-08

Variant appearance in text: SCNN1A: W493R

PubMed Link: 31551351

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs5742912

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: SCNN1A: W493R

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.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: SCNN1A: W493R; rs5742912

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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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: SCNN1A: 1477T>C; Trp493Arg; rs5742912

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

View BVdb publication page

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Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Journal Of Thoracic Disease

Guan, Wei-Jie WJ; Li, Jia-Cheng JC; Liu, Fang F; Zhou, Jian J; Liu, Ya-Ping YP; Ling, Chao C; Gao, Yong-Hua YH; Li, Hui-Min HM; Yuan, Jing-Jing JJ; Huang, Yan Y; Chen, Chun-Lan CL; Chen, Rong-Chang RC; Zhang, Xue X; Zhong, Nan-Shan NS

Publication Date: 2018-05

Variant appearance in text: SCNN1A: W493R

PubMed Link: 29997923

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs5742912

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: SCNN1A: 1477T>C; Trp493Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: SCNN1A: W493R; rs5742912

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

Cold Spring Harbor Molecular Case Studies

Polfus, Linda M LM; Boerwinkle, Eric E; Gibbs, Richard A RA; Metcalf, Ginger G; Muzny, Donna D; Veeraraghavan, Narayanan N; Grove, Megan M; Shete, Sanjay S; Wallace, Stephanie S; Milewicz, Dianna D; Hanchard, Neil N; Lupski, James R JR; Hashmi, Syed Shahrukh SS; Gupta-Malhotra, Monesha M

Publication Date: 2016-11

Variant appearance in text: rs5742912

PubMed Link: 27900368

Variant Present in the following documents:

• Main text
• PolfusMCS001255.pdf

View BVdb publication page

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Gene variants as risk factors for gastroschisis.

American Journal Of Medical Genetics. Part A

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Tom, Lauren L; Lin, Bin B; Carmichael, Suzan L SL; Lammer, Edward J EJ; Shaw, Gary M GM

Publication Date: 2016-11

Variant appearance in text: rs5742912

PubMed Link: 27616475

Variant Present in the following documents:

• Main text
• AJMG-170-2788.pdf

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: rs5742912

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study.

Journal Of Human Hypertension

Do, A N AN; Lynch, A I AI; Claas, S A SA; Boerwinkle, E E; Davis, B R BR; Ford, C E CE; Eckfeldt, J H JH; Tiwari, H K HK; Arnett, D K DK; Irvin, M R MR

Publication Date: 2016-09

Variant appearance in text: rs5742912

PubMed Link: 26791477

Variant Present in the following documents:

• Main text
• nihms731953.pdf

View BVdb publication page

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Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

Gene

Hanukoglu, Israel I; Hanukoglu, Aaron A

Publication Date: 2016-04-01

Variant appearance in text: SCNN1A: W493R

PubMed Link: 26772908

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: rs5742912

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: SCNN1A: W493R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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A novel method for testing association of multiple genetic markers with a multinomial trait.

Proceedings. American Statistical Association. Annual Meeting

Kwon, Soonil S; Goodarzi, Mark O MO; Taylor, Kent D KD; Cui, Jinrui J; Chen, Y-D Ida YD; Rotter, Jerome I JI; Hsueh, Willa W; Guo, Xiuqing X

Publication Date: 2010

Variant appearance in text: rs5742912

PubMed Link: 26005397

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: SCNN1A: W493R; rs5742912

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: rs5742912

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Epistatic study reveals two genetic interactions in blood pressure regulation.

Bmc Medical Genetics

Ndiaye, Ndeye Coumba NC; Said, El Shamieh el S; Stathopoulou, Maria G MG; Siest, Gérard G; Tsai, Michael Y MY; Visvikis-Siest, Sophie S

Publication Date: 2013-01-08

Variant appearance in text: rs5742912

PubMed Link: 23298194

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies.

Circulation Research

Nguyen, Khanh-Dung H KD; Pihur, Vasyl V; Ganesh, Santhi K SK; Rakha, Ankit A; Cooper, Richard S RS; Hunt, Steven C SC; Freedman, Barry I BI; Coresh, Joe J; Kao, W H Linda WH; Morrison, Alanna C AC; Boerwinkle, Eric E; Ehret, Georg B GB; Chakravarti, Aravinda A

Publication Date: 2013-01-18

Variant appearance in text: SCNN1A: W493R; rs5742912

PubMed Link: 23149595

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gain-of-function variant of the human epithelial sodium channel.

American Journal Of Physiology. Renal Physiology

Chen, Jingxin J; Kleyman, Thomas R TR; Sheng, Shaohu S

Publication Date: 2013-01-15

Variant appearance in text: SCNN1A: W493R

PubMed Link: 23136006

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Graph Theory.

Neurology Research International

Buscema, Massimo M; Penco, Silvana S; Grossi, Enzo E

Publication Date: 2012

Variant appearance in text: SCNN1: trp493arg

PubMed Link: 22934166

Variant Present in the following documents:

• NRI2012-478560.pdf

View BVdb publication page

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Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Kuehl, Karen K; Loffredo, Christopher C; Lammer, Edward J EJ; Iovannisci, David M DM; Shaw, Gary M GM

Publication Date: 2010-02

Variant appearance in text: SCNN1A: Trp493Arg; rs5742912

PubMed Link: 19764075

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study.

American Heart Journal

Goulart, Alessandra C AC; Rexrode, Kathryn M KM; Cheng, Suzanne S; Rose, Lynda L; Buring, Julie E JE; Ridker, Paul M PM; Zee, Robert Y L RY

Publication Date: 2009-08

Variant appearance in text: rs5742912

PubMed Link: 19619703

Variant Present in the following documents:

• Main text

View BVdb publication page

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A candidate gene association study of 77 polymorphisms in migraine.

The Journal Of Pain

Schürks, Markus M; Kurth, Tobias T; Buring, Julie E JE; Zee, Robert Y L RY

Publication Date: 2009-07

Variant appearance in text: rs5742912

PubMed Link: 19559392

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

Journal Of Hypertension

Conen, David D; Cheng, Suzanne S; Steiner, Lori L LL; Buring, Julie E JE; Ridker, Paul M PM; Zee, Robert Y L RY

Publication Date: 2009-03

Variant appearance in text: rs5742912

PubMed Link: 19330901

Variant Present in the following documents:

• Main text

View BVdb publication page

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A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke

Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,

Publication Date: 2009-03

Variant appearance in text: rs5742912

PubMed Link: 19131662

Variant Present in the following documents:

• Main text

View BVdb publication page

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New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics

Penco, Silvana S; Buscema, Massimo M; Patrosso, Maria Cristina MC; Marocchi, Alessandro A; Grossi, Enzo E

Publication Date: 2008-05-30

Variant appearance in text: SCNN1A: trp493arg; rs5742912

PubMed Link: 18513389

Variant Present in the following documents:

• Main text
• 1471-2105-9-254.pdf

View BVdb publication page

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Effects of interacting networks of cardiovascular risk genes on the risk of type 2 diabetes mellitus (the CODAM study).

Bmc Medical Genetics

van Greevenbroek, Marleen M J MM; Zhang, Jian J; Kallen, Carla J H van der CJ; Schiffers, Paul M H PM; Feskens, Edith J M EJ; de Bruin, Tjerk W A TW

Publication Date: 2008-04-24

Variant appearance in text: SCNN1A: Trp493Arg

PubMed Link: 18433508

Variant Present in the following documents:

• Main text

View BVdb publication page

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Search for haplotype interactions that influence susceptibility to type 1 diabetes, through use of unphased genotype data.

American Journal Of Human Genetics

Zhang, Jian J; Liang, Faming F; Dassen, Willem R M WR; Veldman, Bart A J BA; Doevendans, Pieter A PA; De Gunst, Mathisca M

Publication Date: 2003-12

Variant appearance in text: SCNN1A: Trp493Arg

PubMed Link: 14639528

Variant Present in the following documents:

• Main text

View BVdb publication page

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