Zobrazeno 1 - 10
of 430
pro vyhledávání: '"Nora Franceschini"'
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-5 (2024)
Abstract Apolipoprotein L1 (APOL1) coding variants, termed G1 and G2, are established genetic risk factors for a growing spectrum of diseases, including kidney disease, in individuals of African ancestry. Evidence suggests that the risk variants, whi
Externí odkaz:
https://doaj.org/article/f3d7aba5ebe942f1a8c292be8a665ce1
Autor:
Yash Pershad, Taralynn Mack, Hannah Poisner, Yasminka A. Jakubek, Adrienne M. Stilp, Braxton D. Mitchell, Joshua P. Lewis, Eric Boerwinkle, Ruth J. F. Loos, Nathalie Chami, Zhe Wang, Kathleen Barnes, Nathan Pankratz, Myriam Fornage, Susan Redline, Bruce M. Psaty, Joshua C. Bis, Ali Shojaie, Edwin K. Silverman, Michael H. Cho, Jeong H. Yun, Dawn DeMeo, Daniel Levy, Andrew D. Johnson, Rasika A. Mathias, Margaret A. Taub, Donna Arnett, Kari E. North, Laura M. Raffield, April P. Carson, Margaret F. Doyle, Stephen S. Rich, Jerome I. Rotter, Xiuqing Guo, Nancy J. Cox, Dan M. Roden, Nora Franceschini, Pinkal Desai, Alex P. Reiner, Paul L. Auer, Paul A. Scheet, Siddhartha Jaiswal, Joshua S. Weinstock, Alexander G. Bick
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-10 (2024)
Abstract Clonal hematopoiesis (CH) is characterized by the acquisition of a somatic mutation in a hematopoietic stem cell that results in a clonal expansion. These driver mutations can be single nucleotide variants in cancer driver genes or larger st
Externí odkaz:
https://doaj.org/article/1250c0a2d37c41cbad1c671a34d1b82b
Autor:
Charles E. Breeze, Eric Haugen, María Gutierrez-Arcelus, Xiaozheng Yao, Andrew Teschendorff, Stephan Beck, Ian Dunham, John Stamatoyannopoulos, Nora Franceschini, Mitchell J. Machiela, Sonja I. Berndt
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract The majority of disease-associated variants identified through genome-wide association studies are located outside of protein-coding regions. Prioritizing candidate regulatory variants and gene targets to identify potential biological mechan
Externí odkaz:
https://doaj.org/article/9f08d77a09614b38b12d6c983e37bd21
Autor:
Markus Scholz, Katrin Horn, Janne Pott, Matthias Wuttke, Andreas Kühnapfel, M. Kamal Nasr, Holger Kirsten, Yong Li, Anselm Hoppmann, Mathias Gorski, Sahar Ghasemi, Man Li, Adrienne Tin, Jin-Fang Chai, Massimiliano Cocca, Judy Wang, Teresa Nutile, Masato Akiyama, Bjørn Olav Åsvold, Nisha Bansal, Mary L. Biggs, Thibaud Boutin, Hermann Brenner, Ben Brumpton, Ralph Burkhardt, Jianwen Cai, Archie Campbell, Harry Campbell, John Chalmers, Daniel I. Chasman, Miao Ling Chee, Miao Li Chee, Xu Chen, Ching-Yu Cheng, Renata Cifkova, Martha Daviglus, Graciela Delgado, Katalin Dittrich, Todd L. Edwards, Karlhans Endlich, J. Michael Gaziano, Ayush Giri, Franco Giulianini, Scott D. Gordon, Daniel F. Gudbjartsson, Stein Hallan, Pavel Hamet, Catharina A. Hartman, Caroline Hayward, Iris M. Heid, Jacklyn N. Hellwege, Bernd Holleczek, Hilma Holm, Nina Hutri-Kähönen, Kristian Hveem, Berend Isermann, Jost B. Jonas, Peter K. Joshi, Yoichiro Kamatani, Masahiro Kanai, Mika Kastarinen, Chiea Chuen Khor, Wieland Kiess, Marcus E. Kleber, Antje Körner, Peter Kovacs, Alena Krajcoviechova, Holly Kramer, Bernhard K. Krämer, Mikko Kuokkanen, Mika Kähönen, Leslie A. Lange, James P. Lash, Terho Lehtimäki, Hengtong Li, Bridget M. Lin, Jianjun Liu, Markus Loeffler, Leo-Pekka Lyytikäinen, Patrik K. E. Magnusson, Nicholas G. Martin, Koichi Matsuda, Yuri Milaneschi, Pashupati P. Mishra, Nina Mononen, Grant W. Montgomery, Dennis O. Mook-Kanamori, Josyf C. Mychaleckyj, Winfried März, Matthias Nauck, Kjell Nikus, Ilja M. Nolte, Raymond Noordam, Yukinori Okada, Isleifur Olafsson, Albertine J. Oldehinkel, Brenda W. J. H. Penninx, Markus Perola, Nicola Pirastu, Ozren Polasek, David J. Porteous, Tanja Poulain, Bruce M. Psaty, Ton J. Rabelink, Laura M. Raffield, Olli T. Raitakari, Humaira Rasheed, Dermot F. Reilly, Kenneth M. Rice, Anne Richmond, Paul M. Ridker, Jerome I. Rotter, Igor Rudan, Charumathi Sabanayagam, Veikko Salomaa, Neil Schneiderman, Ben Schöttker, Mario Sims, Harold Snieder, Klaus J. Stark, Kari Stefansson, Hannah Stocker, Michael Stumvoll, Patrick Sulem, Gardar Sveinbjornsson, Per O. Svensson, E-Shyong Tai, Kent D. Taylor, Bamidele O. Tayo, Andrej Teren, Yih-Chung Tham, Joachim Thiery, Chris H. L. Thio, Laurent F. Thomas, Johanne Tremblay, Anke Tönjes, Peter J. van der Most, Veronique Vitart, Uwe Völker, Ya Xing Wang, Chaolong Wang, Wen Bin Wei, John B. Whitfield, Sarah H. Wild, James F. Wilson, Thomas W. Winkler, Tien-Yin Wong, Mark Woodward, Xueling Sim, Audrey Y. Chu, Mary F. Feitosa, Unnur Thorsteinsdottir, Adriana M. Hung, Alexander Teumer, Nora Franceschini, Afshin Parsa, Anna Köttgen, Pascal Schlosser, Cristian Pattaro
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-relat
Externí odkaz:
https://doaj.org/article/268d127148904565be810f5bb7b9bb96
Autor:
Karlijn A. C. Meeks, Amy R. Bentley, Themistocles L. Assimes, Nora Franceschini, Adebowale A. Adeyemo, Charles N. Rotimi, Ayo P. Doumatey
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-14 (2023)
Abstract Background In vitro and in vivo studies have shown that certain cytokines and hormones may play a role in the development and progression of type 2 diabetes (T2D). However, studies on their role in T2D in humans are scarce. We evaluated asso
Externí odkaz:
https://doaj.org/article/17086dc964274999bdc3791b8a9b648d
Publikováno v:
Nutrients, Vol 16, Iss 12, p 1918 (2024)
Diabetic nephropathy (DN), defined as continuously elevated urinary albumin and a diminished estimated glomerular filtration rate, is a serious complication of both type 1 diabetes and type 2 diabetes and is the main cause of end-stage kidney disease
Externí odkaz:
https://doaj.org/article/25c27ae34832416a85fd5f58a0010b3b
Autor:
Lyle G Best, Esther Erdei, Karin Haack, Jack W Kent, Kimberly M Malloy, Deborah E Newman, Marcia O'Leary, Rae A O'Leary, Quan Sun, Ana Navas-Acien, Nora Franceschini, Shelley A Cole
Publikováno v:
PLoS ONE, Vol 19, Iss 4, p e0302464 (2024)
BackgroundAlthough COVID-19 infection has been associated with a number of clinical and environmental risk factors, host genetic variation has also been associated with the incidence and morbidity of infection. The CRP gene codes for a critical compo
Externí odkaz:
https://doaj.org/article/6c86799c781a45b882ce99eb11821661
Autor:
Alpha Oumar Diallo, Maja E Marcus, David Flood, Michaela Theilmann, Nicholas E Rahim, Alan Kinlaw, Nora Franceschini, Til Stürmer, Dessie V Tien, Mohsen Abbasi-Kangevari, Kokou Agoudavi, Glennis Andall-Brereton, Krishna Aryal, Silver Bahendeka, Brice Bicaba, Pascal Bovet, Maria Dorobantu, Farshad Farzadfar, Seyyed-Hadi Ghamari, Gladwell Gathecha, David Guwatudde, Mongal Gurung, Corine Houehanou, Dismand Houinato, Nahla Hwalla, Jutta Jorgensen, Gibson Kagaruki, Khem Karki, Joao Martins, Mary Mayige, Roy Wong McClure, Sahar Saeedi Moghaddam, Omar Mwalim, Kibachio Joseph Mwangi, Bolormaa Norov, Sarah Quesnel-Crooks, Abla Sibai, Lela Sturua, Lindiwe Tsabedze, Chea Wesseh, Pascal Geldsetzer, Rifat Atun, Sebastian Vollmer, Till Bärnighausen, Justine Davies, Mohammed K Ali, Jacqueline A Seiglie, Emily W Gower, Jennifer Manne-Goehler
Publikováno v:
PLOS Global Public Health, Vol 4, Iss 3, p e0003019 (2024)
The prevalence of multiple age-related cardiovascular disease (CVD) risk factors is high among individuals living in low- and middle-income countries. We described receipt of healthcare services for and management of hypertension and diabetes among i
Externí odkaz:
https://doaj.org/article/e9f082b8a50b4ad490b2a2bbf86d0d16
Autor:
Odessica Hughes, Amy R. Bentley, Charles E. Breeze, Francois Aguet, Xiaoguang Xu, Girish Nadkarni, Quan Sun, Bridget M. Lin, Thomas Gilliland, Mariah C. Meyer, Jiawen Du, Laura M. Raffield, Holly Kramer, Robert W. Morton, Mateus H. Gouveia, Elizabeth G. Atkinson, Adan Valladares-Salgado, Niels Wacher-Rodarte, Nicole D. Dueker, Xiuqing Guo, Yang Hai, Adebowale Adeyemo, Lyle G. Best, Jianwen Cai, Guanjie Chen, Michael Chong, Ayo Doumatey, James Eales, Mark O. Goodarzi, Eli Ipp, Marguerite Ryan Irvin, Minzhi Jiang, Alana C. Jones, Charles Kooperberg, Jose E. Krieger, Ethan M. Lange, Matthew B. Lanktree, James P. Lash, Paulo A. Lotufo, Ruth J.F. Loos, Vy Thi Ha My, Jesús Peralta-Romero, Lihong Qi, Leslie J. Raffel, Stephen S. Rich, Erik J. Rodriquez, Eduardo Tarazona-Santos, Kent D. Taylor, Jason G. Umans, Jia Wen, Bessie A. Young, Zhi Yu, Ying Zhang, Yii-Der Ida Chen, Tanja Rundek, Jerome I. Rotter, Miguel Cruz, Myriam Fornage, Maria Fernanda Lima-Costa, Alexandre C. Pereira, Guillaume Paré, Pradeep Natarajan, Shelley A. Cole, April P. Carson, Leslie A. Lange, Yun Li, Eliseo J. Perez-Stable, Ron Do, Fadi J. Charchar, Maciej Tomaszewski, Josyf C. Mychaleckyj, Charles Rotimi, Andrew P. Morris, Nora Franceschini
Publikováno v:
Cell Genomics, Vol 4, Iss 1, Pp 100468- (2024)
Summary: Chronic kidney disease is a leading cause of death and disability globally and impacts individuals of African ancestry (AFR) or with ancestry in the Americas (AMS) who are under-represented in genome-wide association studies (GWASs) of kidne
Externí odkaz:
https://doaj.org/article/975974e930614de28f7b1b95b70b9859
Autor:
Nicole D. Armstrong, Vinodh Srinivasasainagendra, Farah Ammous, Themistocles L. Assimes, Amber L. Beitelshees, Jennifer Brody, Brian E. Cade, Yii-Der Ida Chen, Han Chen, Paul S. de Vries, James S. Floyd, Nora Franceschini, Xiuqing Guo, Jacklyn N. Hellwege, John S. House, Chii-Min Hwu, Sharon L. R. Kardia, Ethan M. Lange, Leslie A. Lange, Caitrin W. McDonough, May E. Montasser, Jeffrey R. O’Connell, Megan M. Shuey, Xiao Sun, Rikki M. Tanner, Zhe Wang, Wei Zhao, April P. Carson, Todd L. Edwards, Tanika N. Kelly, Eimear E. Kenny, Charles Kooperberg, Ruth J. F. Loos, Alanna C. Morrison, Alison Motsinger-Reif, Bruce M. Psaty, Dabeeru C. Rao, Susan Redline, Stephen S. Rich, Jerome I. Rotter, Jennifer A. Smith, Albert V. Smith, Marguerite R. Irvin, Donna K. Arnett
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Apparent treatment-resistant hypertension (aTRH) is characterized by the use of four or more antihypertensive (AHT) classes to achieve blood pressure (BP) control. In the current study, we conducted single-variant and gene-based analyse
Externí odkaz:
https://doaj.org/article/7b206fd782484f169fb7415ed4c3d533