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2. Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation.

Author

Adlam, David, Berrandou, Takiy-Eddine, Georges, Adrien, Nelson, Christopher, Giannoulatou, Eleni, Henry, Joséphine, Ma, Lijiang, Blencowe, Montgomery, Turley, Tamiel, Yang, Min-Lee, Chopade, Sandesh, Finan, Chris, Braund, Peter, Sadeg-Sayoud, Ines, Iismaa, Siiri, Kosel, Matthew, Zhou, Xiang, Hamby, Stephen, Cheng, Jenny, Liu, Lu, Tarr, Ingrid, Muller, David, dEscamard, Valentina, King, Annette, Brunham, Liam, Baranowska-Clarke, Ania, Debette, Stéphanie, Amouyel, Philippe, Olin, Jeffrey, Patil, Snehal, Hesselson, Stephanie, Junday, Keerat, Kanoni, Stavroula, Aragam, Krishna, Butterworth, Adam, Tweet, Marysia, Gulati, Rajiv, Combaret, Nicolas, Kadian-Dodov, Daniella, Kalman, Jonathan, Fatkin, Diane, Hingorani, Aroon, Saw, Jacqueline, Webb, Tom, Hayes, Sharonne, Yang, Xia, Ganesh, Santhi, Olson, Timothy, Kovacic, Jason, Graham, Robert, Samani, Nilesh, and Bouatia-Naji, Nabila

Subjects
Humans, Female, Genome-Wide Association Study, Vascular Diseases, Coronary Artery Disease, Myocardial Infarction
Abstract

Spontaneous coronary artery dissection (SCAD) is an understudied cause of myocardial infarction primarily affecting women. It is not known to what extent SCAD is genetically distinct from other cardiovascular diseases, including atherosclerotic coronary artery disease (CAD). Here we present a genome-wide association meta-analysis (1,917 cases and 9,292 controls) identifying 16 risk loci for SCAD. Integrative functional annotations prioritized genes that are likely to be regulated in vascular smooth muscle cells and artery fibroblasts and implicated in extracellular matrix biology. One locus containing the tissue factor gene F3, which is involved in blood coagulation cascade initiation, appears to be specific for SCAD risk. Several associated variants have diametrically opposite associations with CAD, suggesting that shared biological processes contribute to both diseases, but through different mechanisms. We also infer a causal role for high blood pressure in SCAD. Our findings provide novel pathophysiological insights involving arterial integrity and tissue-mediated coagulation in SCAD and set the stage for future specific therapeutics and preventions.

Published
2023

3. Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Author

Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K., Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A., Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L., Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M., Coleman, Dawn M., d’Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z., Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C., Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, Amouyel, Philippe, De Buyzere, Marc L., Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L., Olin, Jeffrey W., Piwonski, Jerzy, Rietzschel, Ernst R., Ruigrok, Ynte M., Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J., Azizi, Michel, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C., Ganesh, Santhi K., and Bouatia-Naji, Nabila

Published
2022
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4. Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction.

Author

Kumar, Nitin, Yang, Min-Lee, Sun, Pengfei, Hunker, Kristina L., Li, Jianping, Jia, Jia, Fan, Fangfang, Wang, Jinghua, Ning, Xianjia, Gao, Wei, Xu, Ming, Zhang, Jifeng, Chang, Lin, Chen, Yuqing E., Huo, Yong, Zhang, Yan, and Ganesh, Santhi K.

Subjects
*FREE fatty acids, *CHINESE people, *THORACIC aorta, *GENETIC variation, *GENETIC regulation, *BLOOD pressure, *SYSTOLIC blood pressure
Abstract

Genetic studies of blood pressure (BP) traits to date have been performed on conventional measures by brachial cuff sphygmomanometer for systolic BP (SBP) and diastolic BP, integrating several physiologic occurrences. Genetic associations with central SBP (cSBP) have not been well-studied. Genetic discovery studies of BP have been most often performed in European-ancestry samples. Here, we investigated genetic associations with cSBP in a Chinese population and functionally validated the impact of a novel associated coiled-coil domain containing 93 (CCDC93) gene on BP regulation. An exome-wide association study (EWAS) was performed using a mixed linear model of non-invasive cSBP and peripheral BP traits in a Han Chinese population (N = 5,954) from Beijing, China genotyped with a customized Illumina ExomeChip array. We identified four SNP-trait associations with three SNPs, including two novel associations (rs2165468-SBP and rs33975708-cSBP). rs33975708 is a coding variant in the CCDC93 gene, c.535C>T, p.Arg179Cys (MAF = 0.15%), and was associated with increased cSBP (β = 29.3 mmHg, P = 1.23x10-7). CRISPR/Cas9 genome editing was used to model the effect of Ccdc93 loss in mice. Homozygous Ccdc93 deletion was lethal prior to day 10.5 of embryonic development. Ccdc93+/- heterozygous mice were viable and morphologically normal, with 1.3-fold lower aortic Ccdc93 protein expression (P = 0.0041) and elevated SBP as compared to littermate Ccdc93+/+ controls (110±8 mmHg vs 125±10 mmHg, P = 0.016). Wire myography of Ccdc93+/- aortae showed impaired acetylcholine-induced relaxation and enhanced phenylephrine-induced contraction. RNA-Seq transcriptome analysis of Ccdc93+/- mouse thoracic aortae identified significantly enriched pathways altered in fatty acid metabolism and mitochondrial metabolism. Plasma free fatty acid levels were elevated in Ccdc93+/- mice (96±7mM vs 124±13mM, P = 0.0031) and aortic mitochondrial dysfunction was observed through aberrant Parkin and Nix protein expression. Together, our genetic and functional studies support a novel role of CCDC93 in the regulation of BP through its effects on vascular mitochondrial function and endothelial function. Author summary: More than 1000 loci have been reported in previous gene discovery efforts for blood pressure and hypertension. cSBP is a unique blood pressure trait that has not been as extensively studied as peripheral BP, and correlates of cSBP may provide a better indication of future cardiovascular events. In this study we replicated several BP associations in a Han Chinese cohort and found a novel association with a coding variant in CCDC93 (rs33975708, c.535C>T, p.Arg179Cys, MAF 0.15%) which was strongly associated with higher cSBP. To model loss of Ccdc93 and functionally validate the human genetic association, a new transgenic mouse was created. Ccdc93 homozygous deletion was embryonic lethal, and mice with heterozygous loss of Ccdc93 exhibited impaired arterial relaxation and enhanced contractile responses. Aortic RNA-seq analysis of Ccdc93+/- heterozygous mice identified metabolic dysregulation and mitochondrial dysfunction, which was validated by features of elevated plasma free fatty acids and increased aortic Parkin and Nix protein expression. Improved knowledge of the genes involved in BP regulation is needed to develop effective therapies to manage elevated BP, and this study identified the gene CCDC93 as a novel regulator of blood pressure and vascular function. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

Author

van Rooij, Frank JA, Qayyum, Rehan, Smith, Albert V, Zhou, Yi, Trompet, Stella, Tanaka, Toshiko, Keller, Margaux F, Chang, Li-Ching, Schmidt, Helena, Yang, Min-Lee, Chen, Ming-Huei, Hayes, James, Johnson, Andrew D, Yanek, Lisa R, Mueller, Christian, Lange, Leslie, Floyd, James S, Ghanbari, Mohsen, Zonderman, Alan B, Jukema, J Wouter, Hofman, Albert, van Duijn, Cornelia M, Desch, Karl C, Saba, Yasaman, Ozel, Ayse B, Snively, Beverly M, Wu, Jer-Yuarn, Schmidt, Reinhold, Fornage, Myriam, Klein, Robert J, Fox, Caroline S, Matsuda, Koichi, Kamatani, Naoyuki, Wild, Philipp S, Stott, David J, Ford, Ian, Slagboom, P Eline, Yang, Jaden, Chu, Audrey Y, Lambert, Amy J, Uitterlinden, André G, Franco, Oscar H, Hofer, Edith, Ginsburg, David, Hu, Bella, Keating, Brendan, Schick, Ursula M, Brody, Jennifer A, Li, Jun Z, Chen, Zhao, Zeller, Tanja, Guralnik, Jack M, Chasman, Daniel I, Peters, Luanne L, Kubo, Michiaki, Becker, Diane M, Li, Jin, Eiriksdottir, Gudny, Rotter, Jerome I, Levy, Daniel, Grossmann, Vera, Patel, Kushang V, Chen, Chien-Hsiun, Project, The BioBank Japan, Ridker, Paul M, Tang, Hua, Launer, Lenore J, Rice, Kenneth M, Li-Gao, Ruifang, Ferrucci, Luigi, Evans, Michelle K, Choudhuri, Avik, Trompouki, Eirini, Abraham, Brian J, Yang, Song, Takahashi, Atsushi, Kamatani, Yoichiro, Kooperberg, Charles, Harris, Tamara B, Jee, Sun Ha, Coresh, Josef, Tsai, Fuu-Jen, Longo, Dan L, Chen, Yuan-Tsong, Felix, Janine F, Yang, Qiong, Psaty, Bruce M, Boerwinkle, Eric, Becker, Lewis C, Mook-Kanamori, Dennis O, Wilson, James G, Gudnason, Vilmundur, O'Donnell, Christopher J, Dehghan, Abbas, Cupples, L Adrienne, Nalls, Michael A, Morris, Andrew P, Okada, Yukinori, Reiner, Alexander P, and Zon, Leonard I

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Hematology, Africa, Alleles, Animals, Bayes Theorem, Erythrocytes, Erythropoiesis, Ethnicity, Europe, Asia, Eastern, Female, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Male, RNA-Binding Proteins, Racial Groups, Zebrafish, BioBank Japan Project, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Genome-wide association studies (GWASs) have identified loci for erythrocyte traits in primarily European ancestry populations. We conducted GWAS meta-analyses of six erythrocyte traits in 71,638 individuals from European, East Asian, and African ancestries using a Bayesian approach to account for heterogeneity in allelic effects and variation in the structure of linkage disequilibrium between ethnicities. We identified seven loci for erythrocyte traits including a locus (RBPMS/GTF2E2) associated with mean corpuscular hemoglobin and mean corpuscular volume. Statistical fine-mapping at this locus pointed to RBPMS at this locus and excluded nearby GTF2E2. Using zebrafish morpholino to evaluate loss of function, we observed a strong in vivo erythropoietic effect for RBPMS but not for GTF2E2, supporting the statistical fine-mapping at this locus and demonstrating that RBPMS is a regulator of erythropoiesis. Our findings show the utility of trans-ethnic GWASs for discovery and characterization of genetic loci influencing hematologic traits.

Published
2017

6. Abstract 12681: GWAS Meta-Analysis in SCAD, a Women Predominant Ischemic Heart Disease, Reveals Common Variants and Genes Related to Artery Integrity and Tissue-Mediated Coagulation

Author

Adlam, David, BERRANDOU, Takiy E, Georges, Adrien, Nelson, Christopher P, Giannoulatou, Eleni, Ma, Lijiang, Blencowe, Montgomory, Turley, Tamiel, Yang, Min-Lee, Iismaa, Siiri, Tarr, Ingrid, Muller, David, Hesselson, Stephanie, Junday, Keerat, Fatkin, Diane, COMBARET, Nicolas, Saw, Jacqueline, Webb, Tom, Tweet, Marysia, Hayes, Sharonne N, Xia, Yang, Ganesh, Santhi, Olson, Timothy M, Kovacic, Jason C, Graham, Robert M, Samani, Nilesh J, and Bouatia-Naji, Nabila

Published
2022
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7. Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

Author

Pankratz, Nathan, Schick, Ursula M, Zhou, Yi, Zhou, Wei, Ahluwalia, Tarunveer Singh, Allende, Maria Laura, Auer, Paul L, Bork-Jensen, Jette, Brody, Jennifer A, Chen, Ming-Huei, Clavo, Vinna, Eicher, John D, Grarup, Niels, Hagedorn, Elliott J, Hu, Bella, Hunker, Kristina, Johnson, Andrew D, Leusink, Maarten, Lu, Yingchang, Lyytikainen, Leo-Pekka, Manichaikul, Ani, Marioni, Riccardo E, Nalls, Mike A, Pazoki, Raha, Smith, Albert Vernon, van Rooij, Frank JA, Yang, Min-Lee, Zhang, Xiaoling, Zhang, Yan, Asselbergs, Folkert W, Boerwinkle, Eric, Borecki, Ingrid B, Bottinger, Erwin P, Cushman, Mary, de Bakker, Paul IW, Deary, Ian J, Dong, Liguang, Feitosa, Mary F, Floyd, James S, Franceschini, Nora, Franco, Oscar H, Garcia, Melissa E, Grove, Megan L, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B, Hofman, Albert, Jackson, Rebecca D, Jia, Jia, Kahonen, Mika, Launer, Lenore J, Lehtimaki, Terho, Liewald, David C, Linneberg, Allan, Liu, Yongmei, Loos, Ruth JF, Nguyen, Vy M, Numans, Mattijs E, Pedersen, Oluf, Psaty, Bruce M, Raitakari, Olli T, Rich, Stephen S, Rivadeneira, Fernando, Di Sant, Amanda M Rosa, Rotter, Jerome I, Starr, John M, Taylor, Kent D, Thuesen, Betina Heinsbaek, Tracy, Russell P, Uitterlinden, Andre G, Wang, Jiansong, Wang, Judy, Dehghan, Abbas, Huo, Yong, Cupples, L Adrienne, Wilson, James G, Proia, Richard L, Zon, Leonard I, O'Donnell, Christopher J, Reiner, Alex P, and Ganesh, Santhi K

Subjects
Biological Sciences, Genetics, Prevention, Human Genome, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Animals, Erythrocyte Count, Erythrocytes, Ethnicity, Exome, Female, Genetic Loci, Genome-Wide Association Study, Hematocrit, Humans, Male, Mice, Quantitative Trait Loci, Receptors, Lysosphingolipid, Zebrafish, CHARGE Consortium Hematology Working Group, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Hematologic measures such as hematocrit and white blood cell (WBC) count are heritable and clinically relevant. We analyzed erythrocyte and WBC phenotypes in 52,531 individuals (37,775 of European ancestry, 11,589 African Americans, and 3,167 Hispanic Americans) from 16 population-based cohorts with Illumina HumanExome BeadChip genotypes. We then performed replication analyses of new discoveries in 18,018 European-American women and 5,261 Han Chinese. We identified and replicated four new erythrocyte trait-locus associations (CEP89, SHROOM3, FADS2, and APOE) and six new WBC loci for neutrophil count (S1PR4), monocyte count (BTBD8, NLRP12, and IL17RA), eosinophil count (IRF1), and total WBC count (MYB). The association of a rare missense variant in S1PR4 supports the role of sphingosine-1-phosphate signaling in leukocyte trafficking and circulating neutrophil counts. Loss-of-function experiments for S1pr4 in mouse and s1pr4 in zebrafish demonstrated phenotypes consistent with the association observed in humans and altered kinetics of neutrophil recruitment and resolution in response to tissue injury.

Published
2016

8. Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits

Author

Choudhuri, Avik, Trompouki, Eirini, Abraham, Brian J., Colli, Leandro M., Kock, Kian Hong, Mallard, William, Yang, Min-Lee, Vinjamur, Divya S., Ghamari, Alireza, Sporrij, Audrey, Hoi, Karen, Hummel, Barbara, Boatman, Sonja, Chan, Victoria, Tseng, Sierra, Nandakumar, Satish K., Yang, Song, Lichtig, Asher, Superdock, Michael, Grimes, Seraj N., Bowman, Teresa V., Zhou, Yi, Takahashi, Shinichiro, Joehanes, Roby, Cantor, Alan B., Bauer, Daniel E., Ganesh, Santhi K., Rinn, John, Albert, Paul S., Bulyk, Martha L., Chanock, Stephen J., Young, Richard A., and Zon, Leonard I.

Published
2020
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9. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

Author

Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K., Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A., Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L., Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M., Coleman, Dawn M., d’Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z., Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C., Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, Amouyel, Philippe, De Buyzere, Marc L., Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L., Olin, Jeffrey W., Piwonski, Jerzy, Rietzschel, Ernst R., Ruigrok, Ynte M., Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J., Azizi, Michel, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C., Ganesh, Santhi K., and Bouatia-Naji, Nabila

Published
2021
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10. Effects of Long-Term Averaging of Quantitative Blood Pressure Traits on the Detection of Genetic Associations

Author

Ganesh, Santhi K, Chasman, Daniel I, Larson, Martin G, Guo, Xiuqing, Verwoert, Germain, Bis, Joshua C, Gu, Xiangjun, Smith, Albert V, Yang, Min-Lee, Zhang, Yan, Ehret, Georg, Rose, Lynda M, Hwang, Shih-Jen, Papanicolau, George J, Sijbrands, Eric J, Rice, Kenneth, Eiriksdottir, Gudny, Pihur, Vasyl, Ridker, Paul M, Vasan, Ramachandran S, Newton-Cheh, Christopher, Consortium, Global Blood Pressure Genetics, Johnson, Toby, Gateva, Vesela, Tobin, Martin D, Bochud, Murielle, Coin, Lachlan, Najjar, Samer S, Zhao, Jing Hua, Heath, Simon C, Eyheramendy, Susana, Papadakis, Konstantinos, Voight, Benjamin F, Scott, Laura J, Zhang, Feng, Farrall, Martin, Tanaka, Toshiko, Wallace, Chris, Chambers, John C, Khaw, Kay-Tee, Nilsson, Peter, van der Harst, Pim, Polidoro, Silvia, Grobbee, Diederick E, Onland-Moret, N Charlotte, Bots, Michiel L, Wain, Louise V, Elliott, Katherine S, Teumer, Alexander, Luan, Jian’an, Lucas, Gavin, Kuusisto, Johanna, Burton, Paul R, Hadley, David, McArdle, Wendy L, Brown, Morris, Dominiczak, Anna, Newhouse, Stephen J, Samani, Nilesh J, Webster, John, Zeggini, Eleftheria, Beckmann, Jacques S, Bergmann, Sven, Lim, Noha, Song, Kijoung, Vollenweider, Peter, Waeber, Gerard, Waterworth, Dawn M, Yuan, Xin, Groop, Leif, Orho-Melander, Marju, Allione, Alessandra, Di Gregorio, Alessandra, Guarrera, Simonetta, Panico, Salvatore, Ricceri, Fulvio, Romanazzi, Valeria, Sacerdote, Carlotta, Vineis, Paolo, Barroso, Inês, Sandhu, Manjinder S, Luben, Robert N, Crawford, Gabriel J, Jousilahti, Pekka, Perola, Markus, Boehnke, Michael, Bonnycastle, Lori L, Collins, Francis S, Jackson, Anne U, Mohlke, Karen L, Stringham, Heather M, Valle, Timo T, Willer, Cristen J, Bergman, Richard N, Morken, Mario A, Döring, Angela, Gieger, Christian, Illig, Thomas, and Meitinger, Thomas

Subjects
Genetics, Human Genome, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Blood Pressure, Genome-Wide Association Study, Humans, Longitudinal Studies, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Global Blood Pressure Genetics Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Blood pressure (BP) is a heritable, quantitative trait with intraindividual variability and susceptibility to measurement error. Genetic studies of BP generally use single-visit measurements and thus cannot remove variability occurring over months or years. We leveraged the idea that averaging BP measured across time would improve phenotypic accuracy and thereby increase statistical power to detect genetic associations. We studied systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP) averaged over multiple years in 46,629 individuals of European ancestry. We identified 39 trait-variant associations across 19 independent loci (p < 5 × 10(-8)); five associations (in four loci) uniquely identified by our LTA analyses included those of SBP and MAP at 2p23 (rs1275988, near KCNK3), DBP at 2q11.2 (rs7599598, in FER1L5), and PP at 6p21 (rs10948071, near CRIP3) and 7p13 (rs2949837, near IGFBP3). Replication analyses conducted in cohorts with single-visit BP data showed positive replication of associations and a nominal association (p < 0.05). We estimated a 20% gain in statistical power with long-term average (LTA) as compared to single-visit BP association studies. Using LTA analysis, we identified genetic loci influencing BP. LTA might be one way of increasing the power of genetic associations for continuous traits in extant samples for other phenotypes that are measured serially over time.

Published
2014

11. Epidemiologic and Genetic Associations of Erythropoietin With Blood Pressure, Hypertension, and Coronary Artery Disease

Author

Sun, Pengfei, Kumar, Nitin, Tin, Adrienne, Zhao, Jing, Brown, Michael R., Lin, Zesen, Yang, Min-Lee, Zheng, Qiwen, Jia, Jia, Bielak, Lawrence F., Yu, Bing, Boerwinkle, Eric, Hunker, Kristina L., Coresh, Josef, Chen, Y. Eugene, Huo, Yong, Kardia, Sharon L.R., Khoriaty, Rami, Zhou, Xiang, Morrison, Alanna C., Zhang, Yan, and Ganesh, Santhi K.

Published
2021
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12. A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia

Author

Richer, Julie, Hill, Hannah L., Wang, Yu, Yang, Min-Lee, Hunker, Kristina L., Lane, Jamie, Blackburn, Susan, Coleman, Dawn M., Eliason, Jonathan, Sillon, Guillaume, D’Agostino, Maria-Daniela, Jetty, Prasad, Mongeon, François-Pierre, Laberge, Anne-Marie, Ryan, Stephen E., Fendrikova-Mahlay, Natalia, Coutinho, Thais, Mathis, Michael R., Zawistowski, Matthew, Hazen, Stanley L., Katz, Alexander E., Gornik, Heather L., Brummett, Chad M., Abecasis, Goncalo, Bergin, Ingrid L., Stanley, James C., Li, Jun Z., and Ganesh, Santhi K.

Published
2020
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20. S-22-4: GENOME WIDE ASSOCIATION STUDY OF FIBROMUSCULAR DYSPLASIA REVEALS MECHANISTIC LINKS WITH BLOOD PRESSURE REGULATION AND OTHER VASCULAR DISEASES

Author

Georges, Adrien, primary, Yang, Min Lee, additional, Berrandou, Takiy Eddine, additional, Liu, Lu, additional, Sayed, Ines Sadoug, additional, Dikilitas, Ozan, additional, Vikkula, Mikka, additional, Januszewicz, Andrzej, additional, Kullo, Iftikhar J, additional, Azizi, Michel, additional, Jeunemaitre, Xavier, additional, Persu, Alexandre, additional, Kovacic, Jason C, additional, Ganesh, Santhi K, additional, and Naji, Nabila Bouatia, additional

Published
2023
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21. Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture

Author

Katz, Alexander E., primary, Yang, Min-Lee, additional, Levin, Michael G., additional, Tcheandjieu, Catherine, additional, Mathis, Michael, additional, Hunker, Kristina, additional, Blackburn, Susan, additional, Eliason, Jonathan L., additional, Coleman, Dawn M., additional, Fendrikova-Mahlay, Natalia, additional, Gornik, Heather L., additional, Karmakar, Monita, additional, Hill, Hannah, additional, Xu, Chang, additional, Zawistowski, Matthew, additional, Brummett, Chad M., additional, Zoellner, Sebastian, additional, Zhou, Xiang, additional, O’Donnell, Christopher J., additional, Douglas, Julie A., additional, Assimes, Themistocles L., additional, Tsao, Phillip S., additional, Li, Jun Z., additional, Damrauer, Scott M., additional, Stanley, James C., additional, Ganesh, Santhi K., additional, Gaziano, J. Michael, additional, Muralidhar, Sumitra, additional, Ramoni, Rachel, additional, Beckham, Jean, additional, Chang, Kyong-Mi, additional, Tsao, Philip S., additional, Breeling, James, additional, Huang, Grant, additional, Casas, Juan P., additional, Moser, Jennifer, additional, Whitbourne, Stacey B., additional, Brewer, Jessica V., additional, Aslan, Mihaela, additional, Connor, Todd, additional, Argyres, Dean P., additional, Stephens, Brady, additional, Brophy, Mary T., additional, Humphries, Donald E., additional, Selva, Luis E., additional, Do, Nhan, additional, Shayan, Shahpoor (Alex), additional, Cho, Kelly, additional, Churby, Lori, additional, Pyarajan, Saiju, additional, DuVall, Scott L., additional, Hauser, Elizabeth, additional, Sun, Yan, additional, Zhao, Hongyu, additional, Wilson, Peter, additional, McArdle, Rachel, additional, Dellitalia, Louis, additional, Mattocks, Kristin, additional, Harley, John, additional, Whittle, Jeffrey, additional, Jacono, Frank, additional, Wells, John, additional, Gutierrez, Salvador, additional, Gibson, Gretchen, additional, Hammer, Kimberly, additional, Kaminsky, Laurence, additional, Villareal, Gerardo, additional, Kinlay, Scott, additional, Xu, Junzhe, additional, Hamner, Mark, additional, Mathew, Roy, additional, Bhushan, Sujata, additional, Iruvanti, Pran, additional, Godschalk, Michael, additional, Ballas, Zuhair, additional, Ivins, Douglas, additional, Mastorides, Stephen, additional, Moorman, Jonathan, additional, Gappy, Saib, additional, Klein, Jon, additional, Ratcliffe, Nora, additional, Florez, Hermes, additional, Okusaga, Olaoluwa, additional, Murdoch, Maureen, additional, Sriram, Peruvemba, additional, Yeh, Shing Shing, additional, Tandon, Neeraj, additional, Jhala, Darshana, additional, Aguayo, Samuel, additional, Cohen, David, additional, Sharma, Satish, additional, Liangpunsakul, Suthat, additional, Oursler, Kris Ann, additional, Whooley, Mary, additional, Ahuja, Sunil, additional, Constans, Joseph, additional, Meyer, Paul, additional, Greco, Jennifer, additional, Rauchman, Michael, additional, Servatius, Richard, additional, Gaddy, Melinda, additional, Wallbom, Agnes, additional, Morgan, Timothy, additional, Stapley, Todd, additional, Sherman, Scott, additional, Ross, George, additional, Tsao, Philip, additional, Strollo, Patrick, additional, Boyko, Edward, additional, Meyer, Laurence, additional, Gupta, Samir, additional, Huq, Mostaqul, additional, Fayad, Joseph, additional, Hung, Adriana, additional, Lichy, Jack, additional, Hurley, Robin, additional, Robey, Brooks, additional, and Striker, Robert, additional

Published
2022
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24. Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Author

UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - (SLuc) Département cardiovasculaire, Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K, Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A, Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L, Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M, Coleman, Dawn M, d'Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z, Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C, Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, FEIRI investigators, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, MEGASTROKE, Amouyel, Philippe, De Buyzere, Marc L, Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L, Olin, Jeffrey W, Piwonski, Jerzy, Rietzschel, Ernst R, Ruigrok, Ynte M, Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J, Azizi, Michel, ARCADIA Investigators, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C, Ganesh, Santhi K, Bouatia-Naji, Nabila, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - (SLuc) Département cardiovasculaire, Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K, Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A, Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L, Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M, Coleman, Dawn M, d'Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z, Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C, Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, FEIRI investigators, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, MEGASTROKE, Amouyel, Philippe, De Buyzere, Marc L, Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L, Olin, Jeffrey W, Piwonski, Jerzy, Rietzschel, Ernst R, Ruigrok, Ynte M, Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J, Azizi, Michel, ARCADIA Investigators, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C, Ganesh, Santhi K, and Bouatia-Naji, Nabila

Abstract

No abstract available

Published
2022

26. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Author

UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - (SLuc) Département cardiovasculaire, Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K, Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A, Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L, Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M, Coleman, Dawn M, d'Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z, Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C, Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, FEIRI investigators, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, MEGASTROKE, Amouyel, Philippe, De Buyzere, Marc L, Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L, Olin, Jeffrey W, Piwonski, Jerzy, Rietzschel, Ernst R, Ruigrok, Ynte M, Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J, Azizi, Michel, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C, Ganesh, Santhi K, Bouatia-Naji, Nabila, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - (SLuc) Département cardiovasculaire, Georges, Adrien, Yang, Min-Lee, Berrandou, Takiy-Eddine, Bakker, Mark K, Dikilitas, Ozan, Kiando, Soto Romuald, Ma, Lijiang, Satterfield, Benjamin A, Sengupta, Sebanti, Yu, Mengyao, Deleuze, Jean-François, Dupré, Delia, Hunker, Kristina L, Kyryachenko, Sergiy, Liu, Lu, Sayoud-Sadeg, Ines, Amar, Laurence, Brummett, Chad M, Coleman, Dawn M, d'Escamard, Valentina, de Leeuw, Peter, Fendrikova-Mahlay, Natalia, Kadian-Dodov, Daniella, Li, Jun Z, Lorthioir, Aurélien, Pappaccogli, Marco, Prejbisz, Aleksander, Smigielski, Witold, Stanley, James C, Zawistowski, Matthew, Zhou, Xiang, Zöllner, Sebastian, FEIRI investigators, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group, MEGASTROKE, Amouyel, Philippe, De Buyzere, Marc L, Debette, Stéphanie, Dobrowolski, Piotr, Drygas, Wojciech, Gornik, Heather L, Olin, Jeffrey W, Piwonski, Jerzy, Rietzschel, Ernst R, Ruigrok, Ynte M, Vikkula, Miikka, Warchol Celinska, Ewa, Januszewicz, Andrzej, Kullo, Iftikhar J, Azizi, Michel, Jeunemaitre, Xavier, Persu, Alexandre, Kovacic, Jason C, Ganesh, Santhi K, and Bouatia-Naji, Nabila

Abstract

Fibromuscular dysplasia (FMD) is an arteriopathy associated with hypertension, stroke and myocardial infarction, affecting mostly women. We report results from the first genome-wide association meta-analysis of six studies including 1556 FMD cases and 7100 controls. We find an estimate of SNP-based heritability compatible with FMD having a polygenic basis, and report four robustly associated loci (PHACTR1, LRP1, ATP2B1, and LIMA1). Transcriptome-wide association analysis in arteries identifies one additional locus (SLC24A3). We characterize open chromatin in arterial primary cells and find that FMD associated variants are located in arterial-specific regulatory elements. Target genes are broadly involved in mechanisms related to actin cytoskeleton and intracellular calcium homeostasis, central to vascular contraction. We find significant genetic overlap between FMD and more common cardiovascular diseases and traits including blood pressure, migraine, intracranial aneurysm, and coronary artery disease.

Published
2021

27. GENETIC ASSOCIATION STUDIES OF FIBROMUSCULAR DYSPLASIA IDENTIFY NEW RISK LOCI AND SHARED GENETIC BASIS WITH MORE COMMON VASCULAR DISEASES

Author

Georges, Adrien, primary, Yang, Min-Lee, additional, Berrandou, Takiy-Eddine, additional, Bakker, Mark, additional, Dikilitas, Ozan, additional, Ma, Lijiang, additional, Satterfield, Benjamin A., additional, Sengupta, Sebanti, additional, Hunker, Kristina L., additional, Amar, Laurence, additional, Lorthioir, Aurélien, additional, Prejbisz, Aleksander, additional, Pappaccogli, Marco, additional, Ruigrok, Ynte, additional, Olin, Jeffrey W., additional, Gornik, Heather L., additional, Rietzschel, Ernst R., additional, Celinska, Ewa Warchol, additional, Januszewicz, Andrzej, additional, Kullo, Iftikhar J., additional, Azizi, Michel, additional, Jeunemaitre, Xavier, additional, Persu, Alexandre, additional, Kovacic, Jason C., additional, Ganesh, Santhi K., additional, and Bouatia-Naji, Nabila, additional

Published
2021
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28. An Asian-specific MPL genetic variant alters JAK–STAT signaling and influences platelet count in the population

Author

Sun, Pengfei, primary, Zhou, Wei, additional, Fu, Yi, additional, Cheung, Chloe Y Y, additional, Dong, Yujun, additional, Yang, Min-Lee, additional, Zhang, He, additional, Jia, Jia, additional, Huo, Yong, additional, Willer, Cristen J, additional, Chen, Y Eugene, additional, Tang, Clara S, additional, Tse, Hung-Fat, additional, Lam, Karen S L, additional, Gao, Wei, additional, Xu, Ming, additional, Yu, Haiyi, additional, Sham, Pak Chung, additional, Zhang, Yan, additional, and Ganesh, Santhi K, additional

Published
2021
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29. Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.

Author

Murad, Andrea M., Hill, Hannah L., Wang, Yu, Ghannam, Michael, Yang, Min‐Lee, Pugh, Norma L., Asch, Federico M., Hornsby, Whitney, Driscoll, Anisa, McNamara, Jennifer, Willer, Cristen J., Regalado, Ellen S., Milewicz, Dianna M., Eagle, Kim A., and Ganesh, Santhi K.

Abstract

Spontaneous coronary artery dissection (SCAD) is a potential precipitant of myocardial infarction and sudden death for which the etiology is poorly understood. Mendelian vascular and connective tissue disorders underlying thoracic aortic disease (TAD), have been reported in ~5% of individuals with SCAD. We therefore hypothesized that patients with TAD are at elevated risk for SCAD. We queried registries enrolling patients with TAD to define the incidence of SCAD. Of 7568 individuals enrolled, 11 (0.15%) were found to have SCAD. Of the sequenced cases (9/11), pathogenic variants were identified (N = 9), including COL3A1 (N = 3), FBN1 (N = 2), TGFBR2 (N = 2), TGFBR1 (N = 1), and PRKG1 (N = 1). Individuals with SCAD had an increased frequency of iliac artery dissection (25.0% vs. 5.1%, p = 0.047). The prevalence of SCAD among individuals with TAD is low. The identification of pathogenic variants in genes previously described in individuals with SCAD, particularly those underlying vascular Ehlers–Danlos, Marfan syndrome, and Loeys–Dietz syndrome, is consistent with prior reports from clinical SCAD series. Further research is needed to identify specific genetic influences on SCAD risk. [ABSTRACT FROM AUTHOR]

Published
2022
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31. Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia

Author

Georges, Adrien, primary, Albuisson, Juliette, additional, Berrandou, Takiy, additional, Dupré, Délia, additional, Lorthioir, Aurélien, additional, D’Escamard, Valentina, additional, Di Narzo, Antonio F, additional, Kadian-Dodov, Daniella, additional, Olin, Jeffrey W, additional, Warchol-Celinska, Ewa, additional, Prejbisz, Aleksander, additional, Januszewicz, Andrzej, additional, Bruneval, Patrick, additional, Baranowska, Anna A, additional, Webb, Tom R, additional, Hamby, Stephen E, additional, Samani, Nilesh J, additional, Adlam, David, additional, Fendrikova-Mahlay, Natalia, additional, Hazen, Stanley, additional, Wang, Yu, additional, Yang, Min-Lee, additional, Hunker, Kristina, additional, Combaret, Nicolas, additional, Motreff, Pascal, additional, Chédid, Antoine, additional, Fiquet, Béatrice, additional, Plouin, Pierre-François, additional, Mousseaux, Elie, additional, Azarine, Arshid, additional, Amar, Laurence, additional, Azizi, Michel, additional, Gornik, Heather L, additional, Ganesh, Santhi K, additional, Kovacic, Jason C, additional, Jeunemaitre, Xavier, additional, and Bouatia-Naji, Nabila, additional

Published
2020
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34. Rare Loss-of-function Mutations ofPTGIRIdentified in Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection

Author

Georges, Adrien, primary, Albuisson, Juliette, additional, Berrandou, Takiy, additional, Dupré, Délia, additional, Lorthioir, Aurélien, additional, D’Escamard, Valentina, additional, Di Narzo, Antonio F, additional, Kadian-Dodov, Daniella, additional, Olin, Jeffrey W, additional, Warchol-Celinska, Ewa, additional, Prejbisz, Aleksander, additional, Januszewicz, Andrzej, additional, Bruneval, Patrick, additional, Baranowska, Anna A., additional, Webb, Tom R., additional, Hamby, Stephen E., additional, Samani, Nilesh J., additional, Adlam, David, additional, Fendrikova-Mahlay, Natalia, additional, Hazen, Stanley, additional, Wang, Yu, additional, Yang, Min-Lee, additional, Hunker, Kristina, additional, Combaret, Nicolas, additional, Motreff, Pascal, additional, Chédid, Antoine, additional, Fiquet, Béatrice, additional, Plouin, Pierre-François, additional, Mousseaux, Elie, additional, Azarine, Arshid, additional, Amar, Laurence, additional, Azizi, Michel, additional, Gornik, Heather L., additional, Ganesh, Santhi K., additional, Kovacic, Jason C., additional, Jeunemaitre, Xavier, additional, and Bouatia-Naji, Nabila, additional

Published
2019
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36. Transcriptional Signaling Centers Govern Human Erythropoiesis and Harbor Genetic Variations of Red Blood Cell Traits

Author

Choudhuri, Avik, primary, Trompouki, Eirini, additional, Abraham, Brian J., additional, Colli, Leandro, additional, Mallard, William, additional, Yang, Min-Lee, additional, Vinjamur, Divya, additional, Ghamari, Alireza, additional, Nandakumar, Satish, additional, Hoi, Kanen, additional, Hummel, Barbara, additional, Boatman, Sonja, additional, Chan, Victoria, additional, Bowman, Teresa V., additional, Yang, Song, additional, Zhou, Yi, additional, Takahashi, Sinichiro, additional, Cantor, Alan B., additional, Sankaran, Vijay G., additional, Ganesh, Santhi, additional, Bauer, Daniel E., additional, Rinn, John, additional, Chanock, Stephen J, additional, Young, Richard A., additional, and Zon, Leonard I., additional

Published
2018
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38. Distinct Signaling Centers Define Stages of Human Erythropoiesis and Harbor Common Variations of Red Blood Cell Traits

Author

Choudhuri, Avik, primary, Trompouki, Eirini, additional, Abraham, Brian J, additional, Mallard, William, additional, Yang, Min-Lee, additional, Ghamari, Alireza, additional, Hoi, Kanen, additional, Hummel, Barbara, additional, Boatman, Sonja, additional, Chan, Victoria, additional, Bowman, Teresa V., additional, Yang, Song, additional, Zhou, Yi, additional, Takahashi, Sinichiro, additional, Cantor, Alan B., additional, Ganesh, Santhi, additional, Rinn, John, additional, Young, Richard A., additional, and Zon, Leonard I., additional

Published
2017
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39. Development of Update Methods for Configuration Data of NETCONF Protocol considering Multiple Network Administrators

Author

Yang-Min Lee, Mi-Yang Cha, and Jae-Kee Lee

Subjects
NETCONF, business.industry, computer.internet_protocol, Computer science, Network packet, Distributed computing, Data structure, Protocol stack, Network management, Key (cryptography), business, Protocol (object-oriented programming), computer, Heterogeneous network
Abstract

Currently a number of managers exist to manage heterogeneous networks, in this situation, the NETCONF protocol for efficient network management has been proposed as a new protocol. However, the standard NETCONF protocol stack continuous improvement since the establishment but in four layers still have some problems. Especially in situations where there are multiple administrators, problems are more highlighted in operation layer. In this paper, we focus on these issues and the Operation layer has improved the efficiency and flexibility of operations among NETCONF four layers. Additionally, for the inefficiency of updates improved the device settings based on improved operation techniques. In addition, standard protocol NETCONF did not proposed content layer data structure and we propose standard technique of content layer that can generate configuration structure of devices. Improved the three techniques are applied appropriately to the NETCONF, the proposed method and the existing NETCONF was performed experiment to compare with experimental four factors. Compare key factor are four kind as maintaining the probability of network function, the reaction performance about command, the number of control packets, performance of data creation in content layer. Such factors after performing the experiment, the proposed method in this paper is superior to the existing NETCONF and there was confirmed by analysis Experimental results.

Published
2013

40. A Research of LEACH Protocol improved Mobility and Connectivity on WSN using Feature of AOMDV and Vibration Sensor

Author

Jae Kee Lee, Yang Min Lee, Joon We Won, and Mi Yang Cha

Subjects
Zone Routing Protocol, Vehicular ad hoc network, Computer science, business.industry, Wireless ad hoc network, Distributed computing, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Wireless Routing Protocol, Mobile ad hoc network, Ad hoc wireless distribution service, Optimized Link State Routing Protocol, Computer Science::Networking and Internet Architecture, Mobile wireless sensor network, business, Computer network
Abstract

As the growth of ubiquitous services, various types of ad hoc networks have emerged. In particular, wireless sensor networks (WSN) and mobile ad hoc networks (MANET) are widely known ad hoc networks, but there are also other kinds of wireless ad hoc networks in which the characteristics of the aforementioned two network types are mixed together. This paper proposes a variant of the Low Energy Adaptive Cluster Hierarchy (LEACH) routing protocol modified to be suitable in such a combined network environment. That is, the proposed routing protocol provides node detection and route discovery/maintenance in a network with a large number of mobile sensor nodes, while preserving node mobility, network connectivity, and energy efficiency. The proposed routing protocol is implemented with a multi-hop multi-path algorithm, a topology reconfiguration technique using node movement estimation and vibration sensors, and an efficient path selection and data transmission technique for a great many moving nodes. In the experiments, the performance of the proposed protocol is demonstrated by comparing it to the conventional LEACH protocol.

Published
2011

41. Defect Detection and Defect Classification System for Ship Engine using Multi-Channel Vibration Sensor

Author

Hwi Jang, Seung Hyun Bae, Kwang Young Lee, Yang Min Lee, and Jae Kee Lee

Subjects
Vibration, Vibration sensor, Basis (linear algebra), Computer science, Control system, Vibration detection, Range (statistics), Focus (optics), Automotive engineering, Multi channel
Abstract

There has been some research in the equipment defect detection based on vibration information. Most research of them is based on vibration monitoring to determine the equipment defect or not. In this paper, we introduce more accurate system for engine defect detection based on vibration information and we focus on detection of engine defect for boat and system control. First, it uses the duplicated-checking method for vibration information to determine the engine defect or not. If there is a defect happened, we use the method using error part of vibration information basis with error range to determine which kind of error is happened. On the other hand, we use the engine trend analysis and standard of safety engine to implement the vibration information database. Our simulation results show that the probability of engine defect determination is 100% and the probability of engine defect classification and detection is 96%.

Published
2010

42. The Characteristics of Living Behavior and Using Furniture and Home Appliances by Elderly-Headed Households

Author

Hye-In Shin, Yang-Min Lee, Hyung-Woo Kim, Hae-Hwa Ha, and Oh-Jung Kwon

Subjects
Engineering, Product design, business.industry, Home automation, health care facilities, manpower, and services, Elderly people, Behavioral pattern, Advertising, social sciences, business, humanities
Abstract

The purpose of this study was to analyze behavioral patterns of elderly residents and to identify the characteristics of using furniture and home appliances by elderly-headed households. For this purpose, field studies that included observation and open-ended interview were conducted with 52 elderly-headed households. The major findings of this study were as follows: elderly-headed households need home appliances with lighter body, lower capacity and simple functions. Furniture for elderly people should be designed to minimize the inconvenience of using western style furniture, also the behavior patterns which are important to the elderly like taking medicine have to be considered. And it is necessary to design furniture and equipments properly to prevent accidents happened in housing. Lastly, because the elderly relies heavily on watching TV, it will be desirable to apply TV-friendly devices such as home networking and home automation. Research results will be useful information on product design to reflect characteristics of elderly and follow-up studies associated with each furniture and appliances and specific living behavior are needed.

Published
2010

43. Defect Detection of Ship Engine using duplicated checking of vibration-data-distinction Method and Classification of fault-wave

Author

Jae-Kee Lee, Il-Sik Shin, Seung-Hyun Bae, Hwi Jang, Kwang-Young Lee, and Yang-Min Lee

Subjects
Shock wave, Engineering, business.industry, Vibration detection, Fault (power engineering), Fault detection and isolation, Automotive engineering, Shock (mechanics), Vibration, InformationSystems_MODELSANDPRINCIPLES, Control system, Focus (optics), business, ComputingMethodologies_COMPUTERGRAPHICS
Abstract

Recently, there have been some researches in the equipment fault detection based on shock and vibration information. Most research of them is based on shock and vibration monitoring to determine the equipment fault or not. Different with engine fault detection based on shock and vibration information we focus on detection of engine for boat and system control. First, it use the duplicated-checking method for shock and vibration information to determine the engine fault or not. If there is a fault happened, we use the integral to determine the error engine shock wave width and detect the fault area. On the other hand, we use the engine trend analysis and standard of safety engine to implement the shock and vibration information database. Our simulation results show that the probability of engine fault determination is 98% and the probability of engine fault detection is 72%

Published
2009

44. Modified LEACH Protocol improving the Time of Topology Reconfiguration in Container Environment

Author

Ki One Yi, Gwang Hoon Kwark, Yang Min Lee, and Jae Kee Lee

Subjects
Zone Routing Protocol, business.industry, Computer science, computer.internet_protocol, Distributed computing, Wireless Routing Protocol, Control reconfiguration, Neighbor Discovery Protocol, Optimized Link State Routing Protocol, Routing (electronic design automation), Cluster analysis, business, Protocol (object-oriented programming), computer, Computer network
Abstract

In general, routing algorithms that were applied to ad-hoc networks are not suitable for the environment with many nodes over several thousands. To solve this problem, hierarchical management to these nodes and clustering-based protocols for the stable maintenance of topology are used. In this paper, we propose the clustering-based modified LEACH protocol that can applied to an environment which moves around metal containers within communication nodes. In proposed protocol, we implemented a module for detecting the movement of nodes on the clustering-based LEACH protocol and improved the defect of LEACH in an environment with movable nodes. And we showed the possibility of the effective communication by adjusting the configuration method of multi-hop. We also compared the proposed protocol with LEACH in four points of view, which are a gradual network composition time, a reconfiguration time of a topology, a success ratio of communication on an containers environment, and routing overheads. And to conclude, we verified that the proposed protocol is better than original LEACH protocol in the metal containers environment within communication of nodes.

Published
2008

45. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

Author

Guo, Dong-chuan, primary, Duan, Xue-Yan, additional, Regalado, Ellen S., additional, Mellor-Crummey, Lauren, additional, Kwartler, Callie S., additional, Kim, Dong, additional, Lieberman, Kenneth, additional, de Vries, Bert B.A., additional, Pfundt, Rolph, additional, Schinzel, Albert, additional, Kotzot, Dieter, additional, Shen, Xuetong, additional, Yang, Min-Lee, additional, Bamshad, Michael J., additional, Nickerson, Deborah A., additional, Gornik, Heather L., additional, Ganesh, Santhi K., additional, Braverman, Alan C., additional, Grange, Dorothy K., additional, and Milewicz, Dianna M., additional

Published
2017
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47. Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

Author

Epidemiology & Health Economics, TN groep Adan, Cardiovasculaire Immunologie, Circulatory Health, CMM Groep Kaaij, Brain, Infection & Immunity, Pankratz, Nathan, Schick, Ursula M., Zhou, Yi, Zhou, Wei, Ahluwalia, Tarunveer Singh, Allende, Maria Laura, Auer, Paul L., Bork-Jensen, Jette, Brody, Jennifer A., Chen, Ming Huei, Clavo, Vinna, Eicher, John D., Grarup, Niels, Hagedorn, Elliott J., Hu, Bella, Hunker, Kristina, Johnson, Andrew D., Leusink, Maarten, Lu, Yingchang, Lyytikainen, Leo Pekka, Manichaikul, Ani, Marioni, Riccardo E., Nalls, Mike A., Pazoki, Raha, Smith, Albert Vernon, Van Rooij, Frank J A, Yang, Min Lee, Zhang, Xiaoling, Zhang, Yan, Asselbergs, Folkert W., Boerwinkle, Eric, Borecki, Ingrid B., Bottinger, Erwin P., Cushman, Mary, De Bakker, Paul I W, Deary, Ian J., Dong, Liguang, Feitosa, Mary F., Floyd, James S., Franceschini, Nora, Franco, Oscar H., Garcia, Melissa E., Grove, Megan L., Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hofman, Albert, Jackson, Rebecca D., Jia, Jia, Kahonen, Mika, Launer, Lenore J., Lehtimaki, Terho, Liewald, David C., Linneberg, Allan, Liu, Yongmei, Loos, Ruth J F, Nguyen, Vy M., Numans, Mattijs E., Pedersen, Oluf, Psaty, Bruce M., Raitakari, Olli T., Rich, Stephen S., Rivadeneira, Fernando, Di Sant, Amanda M Rosa, Rotter, Jerome I., Starr, John M., Taylor, Kent D., Thuesen, Betina Heinsbek, Tracy, Russell P., Uitterlinden, Andre G., Wang, Jiansong, Wang, Judy, Dehghan, Abbas, Huo, Yong, Adrienne Cupples, L., Wilson, James G., Proia, Richard L., Zon, Leonard I., O'Donnell, Christopher J., Reiner, Alex P., Ganesh, Santhi K., Epidemiology & Health Economics, TN groep Adan, Cardiovasculaire Immunologie, Circulatory Health, CMM Groep Kaaij, Brain, Infection & Immunity, Pankratz, Nathan, Schick, Ursula M., Zhou, Yi, Zhou, Wei, Ahluwalia, Tarunveer Singh, Allende, Maria Laura, Auer, Paul L., Bork-Jensen, Jette, Brody, Jennifer A., Chen, Ming Huei, Clavo, Vinna, Eicher, John D., Grarup, Niels, Hagedorn, Elliott J., Hu, Bella, Hunker, Kristina, Johnson, Andrew D., Leusink, Maarten, Lu, Yingchang, Lyytikainen, Leo Pekka, Manichaikul, Ani, Marioni, Riccardo E., Nalls, Mike A., Pazoki, Raha, Smith, Albert Vernon, Van Rooij, Frank J A, Yang, Min Lee, Zhang, Xiaoling, Zhang, Yan, Asselbergs, Folkert W., Boerwinkle, Eric, Borecki, Ingrid B., Bottinger, Erwin P., Cushman, Mary, De Bakker, Paul I W, Deary, Ian J., Dong, Liguang, Feitosa, Mary F., Floyd, James S., Franceschini, Nora, Franco, Oscar H., Garcia, Melissa E., Grove, Megan L., Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hofman, Albert, Jackson, Rebecca D., Jia, Jia, Kahonen, Mika, Launer, Lenore J., Lehtimaki, Terho, Liewald, David C., Linneberg, Allan, Liu, Yongmei, Loos, Ruth J F, Nguyen, Vy M., Numans, Mattijs E., Pedersen, Oluf, Psaty, Bruce M., Raitakari, Olli T., Rich, Stephen S., Rivadeneira, Fernando, Di Sant, Amanda M Rosa, Rotter, Jerome I., Starr, John M., Taylor, Kent D., Thuesen, Betina Heinsbek, Tracy, Russell P., Uitterlinden, Andre G., Wang, Jiansong, Wang, Judy, Dehghan, Abbas, Huo, Yong, Adrienne Cupples, L., Wilson, James G., Proia, Richard L., Zon, Leonard I., O'Donnell, Christopher J., Reiner, Alex P., and Ganesh, Santhi K.

Published
2016

49. PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance

Author

Kiando, Soto Romuald, primary, Tucker, Nathan R., additional, Castro-Vega, Luis-Jaime, additional, Katz, Alexander, additional, D’Escamard, Valentina, additional, Tréard, Cyrielle, additional, Fraher, Daniel, additional, Albuisson, Juliette, additional, Kadian-Dodov, Daniella, additional, Ye, Zi, additional, Austin, Erin, additional, Yang, Min-Lee, additional, Hunker, Kristina, additional, Barlassina, Cristina, additional, Cusi, Daniele, additional, Galan, Pilar, additional, Empana, Jean-Philippe, additional, Jouven, Xavier, additional, Gimenez-Roqueplo, Anne-Paule, additional, Bruneval, Patrick, additional, Hyun Kim, Esther Soo, additional, Olin, Jeffrey W., additional, Gornik, Heather L., additional, Azizi, Michel, additional, Plouin, Pierre-François, additional, Ellinor, Patrick T., additional, Kullo, Iftikhar J., additional, Milan, David J., additional, Ganesh, Santhi K., additional, Boutouyrie, Pierre, additional, Kovacic, Jason C., additional, Jeunemaitre, Xavier, additional, and Bouatia-Naji, Nabila, additional

Published
2016
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50. Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese

Author

Tang, Clara S., primary, Zhang, He, additional, Cheung, Chloe Y. Y., additional, Xu, Ming, additional, Ho, Jenny C. Y., additional, Zhou, Wei, additional, Cherny, Stacey S., additional, Zhang, Yan, additional, Holmen, Oddgeir, additional, Au, Ka-Wing, additional, Yu, Haiyi, additional, Xu, Lin, additional, Jia, Jia, additional, Porsch, Robert M., additional, Sun, Lijie, additional, Xu, Weixian, additional, Zheng, Huiping, additional, Wong, Lai-Yung, additional, Mu, Yiming, additional, Dou, Jingtao, additional, Fong, Carol H. Y., additional, Wang, Shuyu, additional, Hong, Xueyu, additional, Dong, Liguang, additional, Liao, Yanhua, additional, Wang, Jiansong, additional, Lam, Levina S. M., additional, Su, Xi, additional, Yan, Hua, additional, Yang, Min-Lee, additional, Chen, Jin, additional, Siu, Chung-Wah, additional, Xie, Gaoqiang, additional, Woo, Yu-Cho, additional, Wu, Yangfeng, additional, Tan, Kathryn C. B., additional, Hveem, Kristian, additional, Cheung, Bernard M. Y., additional, Zöllner, Sebastian, additional, Xu, Aimin, additional, Eugene Chen, Y, additional, Jiang, Chao Qiang, additional, Zhang, Youyi, additional, Lam, Tai-Hing, additional, Ganesh, Santhi K., additional, Huo, Yong, additional, Sham, Pak C., additional, Lam, Karen S. L., additional, Willer, Cristen J., additional, Tse, Hung-Fat, additional, and Gao, Wei, additional

Published
2015
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