The Sequences of 150,119 Genomes in the UK Biobank

Autor: Halldorsson, Bjarni V, Eggertsson, Hannes P, Moore, Kristjan H S, Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O, Palsson, Gunnar, Hardarson, Marteinn T, Oddsson, Asmundur, Jensson, Brynjar O, Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D, Stefansson, Olafur A, Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I, Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T, Sigurdsson, Brynjar, Gudjonsson, Sigurjon A, Sigurdsson, Gunnar T, Halldorsson, Gisli H, Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N, Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Jonsson, Helgi, Geirsson, Arni J, Olafsson, Isleifur, Jonsson, Palmi, Pedersen, Ole Birger, Erikstrup, Christian, Brunak, Søren, Ostrowski, Sisse Rye, Nielsen, Kaspar René, Thorleifsson, Gudmar, Jonsson, Frosti, Melsted, Pall, Jonsdottir, Ingileif, Rafnar, Thorunn, Holm, Hilma, Stefansson, Hreinn, Saemundsdottir, Jona, Gudbjartsson, Daniel F, Magnusson, Olafur T, Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Jonsson, Hakon, Sulem, Patrick, Stefansson, Kari, Nyegaard, Mette

Publikováno v: Halldorsson, B V, Eggertsson, H P, Moore, K H S, Hauswedell, H, Eiriksson, O, Ulfarsson, M O, Palsson, G, Hardarson, M T, Oddsson, A, Jensson, B O, Kristmundsdottir, S, Sigurpalsdottir, B D, Stefansson, O A, Beyter, D, Holley, G, Tragante, V, Gylfason, A, Olason, P I, Zink, F, Asgeirsdottir, M, Sverrisson, S T, Sigurdsson, B, Gudjonsson, S A, Sigurdsson, G T, Halldorsson, G H, Sveinbjornsson, G, Norland, K, Styrkarsdottir, U, Magnusdottir, D N, Snorradottir, S, Kristinsson, K, Sobech, E, Jonsson, H, Geirsson, A J, Olafsson, I, Jonsson, P, Pedersen, O B, Erikstrup, C, Brunak, S, Ostrowski, S R, DBDS Genetic Consortium, Nielsen, K R, Thorleifsson, G, Jonsson, F, Melsted, P, Jonsdottir, I, Rafnar, T, Holm, H, Stefansson, H, Saemundsdottir, J, Gudbjartsson, D F, Magnusson, O T, Masson, G, Thorsteinsdottir, U, Helgason, A, Jonsson, H, Sulem, P, Stefansson, K & Nyegaard, M 2022, ' The sequences of 150,119 genomes in the UK Biobank ', Nature, vol. 607, no. 7920, pp. 732-740 . https://doi.org/10.1038/s41586-022-04965-x
Halldorsson, B V, Eggertsson, H P, Moore, K H S, Hauswedell, H, Eiriksson, O, Ulfarsson, M O, Palsson, G, Hardarson, M T, Oddsson, A, Jensson, B O, Kristmundsdottir, S, Sigurpalsdottir, B D, Stefansson, O A, Beyter, D, Holley, G, Tragante, V, Gylfason, A, Olason, P I, Zink, F, Asgeirsdottir, M, Sverrisson, S T, Sigurdsson, B, Gudjonsson, S A, Sigurdsson, G T, Halldorsson, G H, Sveinbjornsson, G, Norland, K, Styrkarsdottir, U, Magnusdottir, D N, Snorradottir, S, Kristinsson, K, Sobech, E, Jonsson, H, Geirsson, A J, Olafsson, I, Jonsson, P, Pedersen, O B, Erikstrup, C, Brunak, S, Ostrowski, S R, DBDS Genetic Consortium, Thorleifsson, G, Jonsson, F, Melsted, P, Jonsdottir, I, Rafnar, T, Holm, H, Stefansson, H, Saemundsdottir, J, Gudbjartsson, D, Magnusson, O T, Masson, G, Thorsteinsdottir, U, Helgason, A, Jonsson, H, Sulem, P, Stefansson, K, Mikkelsen, S & Nyegaard, M 2022, ' The sequences of 150,119 genomes in the UK Biobank ', Nature, vol. 607, pp. 732-740 . https://doi.org/10.1038/s41586-022-04965-x
Halldorsson, B V, Eggertsson, H P, Moore, K H S, Hauswedell, H, Eiriksson, O, Ulfarsson, M O, Palsson, G, Hardarson, M T, Oddsson, A, Jensson, B O, Kristmundsdottir, S, Sigurpalsdottir, B D, Stefansson, O A, Beyter, D, Holley, G, Tragante, V, Gylfason, A, Olason, P I, Zink, F, Asgeirsdottir, M, Sverrisson, S T, Sigurdsson, B, Gudjonsson, S A, Sigurdsson, G T, Halldorsson, G H, Sveinbjornsson, G, Norland, K, Styrkarsdottir, U, Magnusdottir, D N, Snorradottir, S, Kristinsson, K, Sobech, E, Pedersen, O B, Brunak, S, Ostrowski, S R, Banasik, K, Burgdorf, K, Didriksen, M, Hansen, T F, Hjalgrim, H, Jemec, G, Jennum, P, Johansson, P I, Ostrowski, S R, Ullum, H, Werge, T & DBDS Genetic Consortium 2022, ' The sequences of 150,119 genomes in the UK Biobank ', Nature, vol. 607 . https://doi.org/10.1038/s41586-022-04965-x

Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. Over the past decade, insights into this relatio

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Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Autor: Ehret, Georg B., Munroe, Patricia B., Rice, Kenneth M., Bochud, Murielle, Johnson, Andrew D., Chasman, Daniel I., Smith, Albert V., Tobin, Martin D., Verwoert, Germaine C., Hwang, Shih-Jen, Pihur, Vasyl, Vollenweider, Peter, O'Reilly, Paul F., Amin, Najaf, Bragg-Gresham, Jennifer L., Teumer, Alexander, Glazer, Nicole L., Launer, Lenore, Zhao, Jing Hua, Aulchenko, Yurii, Heath, Simon, Sober, Siim, Parsa, Afshin, Luan, Jian'an, Arora, Pankaj, Dehghan, Abbas, Zhang, Feng, Lucas, Gavin, Hicks, Andrew A., Jackson, Anne U., Peden, John F., Tanaka, Toshiko, Wild, Sarah H., Rudan, Igor, Igl, Wilmar, Milaneschi, Yuri, Parker, Alex N., Fava, Cristiano, Chambers, John C., Fox, Ervin R., Kumari, Meena, Go, Min Jin, van der Harst, Pim, Kao, Wen Hong Linda, Sjögren, Marketa, Vinay, D. G., Alexander, Myriam, Tabara, Yasuharu, Shaw-Hawkins, Sue, Whincup, Peter H., Liu, Yongmei, Shi, Gang, Kuusisto, Johanna, Tayo, Bamidele, Seielstad, Mark, Sim, Xueling, Hoang Nguyen, Khanh-Dung, Lehtimäki, Terho, Matullo, Giuseppe, Wu, Ying, Gaunt, Tom R., Charlotte Onland-Moret, N., Cooper, Matthew N., Platou, Carl G. P., Org, Elin, Hardy, Rebecca, Dahgam, Santosh, Palmen, Jutta, Vitart, Veronique, Braund, Peter S., Kuznetsova, Tatiana, Uiterwaal, Cuno S. P. M., Adeyemo, Adebowale, Palmas, Walter, Campbell, Harry, Ludwig, Barbara, Tomaszewski, Maciej, Tzoulaki, Ioanna, Palmer, Nicholette D., Aspelund, Thor, Garcia, Melissa, Chang, Yen-Pei C., O'Connell, Jeffrey R., Steinle, Nanette I., Grobbee, Diederick E., Arking, Dan E., Kardia, Sharon L., Morrison, Alanna C., Hernandez, Dena, Najjar, Samer, McArdle, Wendy L., Hadley, David, Brown, Morris J., Connell, John M., Hingorani, Aroon D., Day, Ian N. M., Lawlor, Debbie A., Beilby, John P., Lawrence, Robert W., Clarke, Robert, Hopewell, Jemma C., Ongen, Halit, Dreisbach, Albert W., Li, Yali, Hunter Young, J., Bis, Joshua C., Kähönen, Mika, Viikari, Jorma, Adair, Linda S., Lee, Nanette R., Chen, Ming-Huei, Olden, Matthias, Pattaro, Cristian, Bolton, Judith A Hoffman, Köttgen, Anna, Bergmann, Sven, Mooser, Vincent, Chaturvedi, Nish, Frayling, Timothy M., Islam, Muhammad, Jafar, Tazeen H., Erdmann, Jeanette, Kulkarni, Smita R., Bornstein, Stefan R., Grässler, Jürgen, Groop, Leif, Voight, Benjamin F., Kettunen, Johannes, Howard, Philip, Taylor, Andrew, Guarrera, Simonetta, Ricceri, Fulvio, Emilsson, Valur, Plump, Andrew, Barroso, Inês, Khaw, Kay-Tee, Weder, Alan B., Hunt, Steven C., Sun, Yan V., Bergman, Richard N., Collins, Francis S., Bonnycastle, Lori L., Scott, Laura J., Stringham, Heather M., Peltonen, Leena, Perola, Markus, Vartiainen, Erkki, Brand, Stefan-Martin, Staessen, Jan A., Wang, Thomas J., Burton, Paul R., Artigas, Maria Soler, Dong, Yanbin, Snieder, Harold, Wang, Xiaoling, Zhu, Haidong, Lohman, Kurt K., Rudock, Megan E., Heckbert, Susan R., Smith, Nicholas L., Wiggins, Kerri L., Doumatey, Ayo, Shriner, Daniel, Veldre, Gudrun, Viigimaa, Margus, Kinra, Sanjay, Prabhakaran, Dorairaj, Tripathy, Vikal, Langefeld, Carl D., Rosengren, Annika, Thelle, Dag S., Corsi, Anna Maria, Singleton, Andrew, Forrester, Terrence, Hilton, Gina, McKenzie, Colin A., Salako, Tunde, Iwai, Naoharu, Kita, Yoshikuni, Ogihara, Toshio, Ohkubo, Takayoshi, Okamura, Tomonori, Ueshima, Hirotsugu, Umemura, Satoshi, Eyheramendy, Susana, Meitinger, Thomas, Wichmann, H. -Erich, Cho, Yoon Shin, Kim, Hyung-Lae, Lee, Jong-Young, Scott, James, Sehmi, Joban S., Zhang, Weihua, Hedblad, Bo, Nilsson, Peter, Smith, George Davey, Wong, Andrew, Narisu, Narisu, Stančáková, Alena, Raffel, Leslie J., Yao, Jie, Kathiresan, Sekar, O'Donnell, Christopher J., Schwartz, Stephen M., Arfan Ikram, M., Longstreth Jr. , W. T., Mosley, Thomas H., Seshadri, Sudha, Shrine, Nick R. G., Wain, Louise V., Morken, Mario A., Swift, Amy J., Laitinen, Jaana, Prokopenko, Inga, Zitting, Paavo, Cooper, Jackie A., Humphries, Steve E., Danesh, John, Rasheed, Asif, Goel, Anuj, Hamsten, Anders, Watkins, Hugh, Bakker, Stephan J. L., van Gilst, Wiek H., Janipalli, Charles S., Radha Mani, K., Yajnik, Chittaranjan S., Hofman, Albert, Mattace-Raso, Francesco U. S., Oostra, Ben A., Demirkan, Ayse, Isaacs, Aaron, Rivadeneira, Fernando, Lakatta, Edward G., Orru, Marco, Scuteri, Angelo, Ala-Korpela, Mika, Kangas, Antti J., Lyytikäinen, Leo-Pekka, Soininen, Pasi, Tukiainen, Taru, Würtz, Peter, Twee-HeeOng, Rick, Dörr, Marcus, Kroemer, Heyo K., Völker, Uwe, Völzke, Henry, Galan, Pilar, Hercberg, Serge, Lathrop, Mark, Zelenika, Diana, Deloukas, Panos, Mangino, Massimo, Spector, Tim D., Zhai, Guangju, Meschia, James F., Nalls, Michael A., Sharma, Pankaj, Terzic, Janos, Kranthi Kumar, M. V., Denniff, Matthew, Zukowska-Szczechowska, Ewa, Wagenknecht, Lynne E., Fowkes, F. Gerald R., Charchar, Fadi J., Schwarz, Peter E. 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M., Hartikainen, Anna-Liisa, Beckmann, Jacques S., Boerwinkle, Eric, Vasan, Ramachandran S., Boehnke, Michael, Larson, Martin G., Järvelin, Marjo-Riitta, Psaty, Bruce M., Abecasis, Gonçalo R., Chakravarti, Aravinda, Elliott, Paul, van Duijn, Cornelia M., Newton-Cheh, Christopher, Levy, Daniel, Caulfield, Mark J., Johnson, Toby, Tang H, Knowles J, Hlatky M, Fortmann S, Assimes TL, Quertermous T, Go A, Iribarren C, Absher D, Risch N, Meyers R, Sidney S, Ziegler A, Schillert A, Bickel C, Sinning C, Rupprecht HJ, Lackner K, Wild P, Schnabel R, Blankenberg S, Zeller T, Münzel T, Perret C, Cambien F, Tiret L, Nicaud V, Proust C, Dehghan A, Hofman A, Uitterlinden A, van Duijn C, Levy D, Whitteman J, Cupples LA, Demissie-Banjaw S, Ramachandran V, Smith A, Gudnason V, Boerwinkle E, Folsom A, Morrison A, Psaty BM, Chen IY, Rotter JI, Bis J, Volcik K, Rice K, Taylor KD, Marciante K, Smith N, Glazer N, Heckbert S, Harris T, Lumley T, Kong A, Thorleifsson G, Thorgeirsson G, Holm H, Gulcher JR, Stefansson K, Andersen K, Gretarsdottir S, Thorsteinsdottir U, Preuss M, Schreiber S, Meitinger T, König IR, Lieb W, Hengstenberg C, Schunkert H, Erdmann J, Fisher M, Grosshennig A, Medack A, Stark K, Linsel-Nitschke P, Bruse P, Aherrahrou Z, Peters A, Loley C, Willenborg C, Nahrstedt J, Freyer J, Gulde S, Doering A, Meisinger C, Wichmann HE, Klopp N, Illig T, Meinitzer A, Tomaschitz A, Halperin E, Dobnig H, Scharnagl H, Kleber M, Laaksonen R, Pilz S, Grammer TB, Stojakovic T, Renner W, März W, Böhm BO, Winkelmann BR, Winkler K, Hoffmann M, O'Donnell CJ, Voight BF, Altshuler D, Siscovick DS, Musunuru K, Peltonen L, Barbalic M, Melander O, Elosua R, Kathiresan S, Schwartz SM, Salomaa V, Guiducci C, Burtt N, Gabriel SB, Stewart AF, Wells GA, Chen L, Jarinova O, Roberts R, McPherson R, Dandona S, Pichard AD, Rader DJ, Devaney J, Lindsay JM, Kent KM, Qu L, Satler L, Burnett MS, Li M, Reilly MP, Wilensky R, Waksman R, Epstein S, Mattha W, Knouf CW, Waterworth DM, Hakonarson HH, Walker M, Mooser V, Hall AS, Balmforth AJ, Wright BJ, Nelson C, Thompson JR, Samani NJ, Braund PS, Ball SG, Smith NL, Felix JF, Morrison AC, Demissie S, Glazer NL, Loehr LR, Rosamond WD, Rivadeneira F, Bis JC, Folsom AR, Benjamin E, Aulchenko YS, Haritunians T, Couper D, Murabito J, Wang YA, Stricker B, Gottdiener JS, Chang PP, Wang TJ, Rice KM, Heckbert SR, Fox ER, Uitterlinden AG, Willerson JT, van Duijn CM, Witteman JC, Vasan RS, Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Schmidt H, Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson A, Teumer A, Paré G, Atkinson EJ, Lohman K, Cornelis MC, Probst-Hensch NM, Kronenberg F, Tönjes A, Hayward C, Aspelund T, Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD, Arking DE, Struchalin M, Cavalieri M, Singleton A, Giallauria, Francesco, Metter J, de Boer J, Siscovick D, Zillikens MC, Oostra BA, Feitosa M, Province M, de Andrade M, Turne ST, Wild PS, Schnabel RB, Wilde S, Munzel TF, Leak TS, Koenig W, Zgaga L, Zemunik T, Kolcic I, Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Imboden M, Nitsch D, Brandstätter A, Kollerits B, Kedenko L, Mägi R, Stumvoll M, Kovacs P, Boban M, Campbell S, Endlich K, Völzke H, Kroemer HK, Nauck M, Völker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM, Kardia SL, Liu Y, Curhan GC, Franke A, Rochat T, Paulweber B, Prokopenko I, Wang W, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Shlipak MG, Borecki I, Krämer BK, Rudan I, Gyllensten U, Wilson JF, Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM, Fox CS, Vasan R, Felix SB, Watzinger N, Larson MG, Homuth G, Aragam J, Dörr M, Zweiker R, Lind L, Rodeheffer RJ, Greiser KH, Deckers JW, Stritzke J, Lackner KJ, Ingelsson E, Kullo I, Haerting J, Stricker BH, Reffelmann T, Redfield MM, Werdan K, Mitchell GF, Arnett D, Blettner M, Friedrich N, Benjamin EJ, Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic T, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Munroe PB, Nordfors L, Penninx BW, Perucha E, Pouta A, Roderick PJ, Ruokonen A, Sanna S, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Ubink-Veltmaat LJ, Uda M, Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Abecasis GR, Lightstone L, Scott J, Navis G, Elliot P, Kooner JS.

Publikováno v: Nature, Vol. 11 (2011) P. 103
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Nature, 2011, 478 (7367), pp.103-109. ⟨10.1038/nature10405⟩
Ehret, G B, Munroe, P B, Rice, K M, Bochud, M, Johnson, A D, Chasman, D I, Smith, A V, Tobin, M D, Verwoert, G C, Hwang, S-J, Pihur, V, Vollenweider, P, O'Reilly, P F, Amin, N, Bragg-Gresham, J L, Teumer, A, Glazer, N L, Launer, L, Zhao, J H, Aulchenko, Y, Heath, S, Sõber, S, Parsa, A, Luan, J, Arora, P, Dehghan, A, Zhang, F, Lucas, G, Hicks, A A, Jackson, A U, Peden, J F, Tanaka, T, Wild, S H, Rudan, I, Igl, W, Milaneschi, Y, Parker, A N, Fava, C, Chambers, J C, Fox, E R, Kumari, M, Go, M J, van der Harst, P, Kao, W H L, Sjögren, M, Vitart, V, Campbell, H, Hayward, C & Wright, A F & Wilson, J F 2011, ' Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk ', Nature, vol. 478, no. 7367, pp. 103-109 . https://doi.org/10.1038/nature10405

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or ≥90 mm Hg diastolic blood pressure).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc0ab267e1ba56e2795eb10b55d87539
https://doi.org/10.1038/nature10405

Extracellular matrix biomarker, fibulin-1 and its association with soluble uPAR in a bi-ethnic South African population: the SAfrEIC study

Autor: Lars Melholt Rasmussen, Jesper Eugen-Olsen, Christine Susara du Plooy, Hugo W. Huisman, Aletta E. Schutte, Ruan Kruger

Publikováno v: du Plooy, C S, Kruger, R, Huisman, H W, Rasmussen, L M, Eugen-Olsen, J & Schutte, A E 2015, ' Extracellular Matrix Biomarker, Fibulin-1 and Its Association with Soluble uPAR in a Bi-ethnic South African Population : The SAfrEIC Study ', Heart, Lung and Circulation
, vol. 24, no. 3, pp. 298-305 . https://doi.org/10.1016/j.hlc.2014.09.019

Background: Fibulin-1 and soluble urokinase-type plasminogen activator receptor (suPAR) emerged as mediators in the development of sclerotic disease. SuPAR along with C-reactive protein (CRP) and albumin delineate inflammatory processes associated wi

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https://pubmed.ncbi.nlm.nih.gov/25456503

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency

Autor: Stylianos E. Antonarakis, William C. Nichols, David Ginsburg, Flora Peyvandi, Colette Rossier, Marguerite Neerman-Arbez, Edward G. D. Tuddenham, John H. McVey, Michael A. Morris, K. M. Johnson

Publikováno v: Blood, Vol. 93, No 7 (1999) pp. 2253-2260
Scopus-Elsevier
Europe PubMed Central

Combined factor V-factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder in which the levels of both coagulation factors V and VIII are diminished. The F5F8D locus was previously mapped to a 1-cM interval on chromosome 18q

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https://archive-ouverte.unige.ch/unige:8935