Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Ketan Mishra"'
Autor:
Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)
Summary: The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further lig
Externí odkaz:
https://doaj.org/article/a1a8d45cbb204fa082951b43db411a0f
Autor:
Ketan Mishra, Keerat Junday, Claire M.Y. Wong, Andrea Y. Chan, Stephanie Hesselson, David W. Muller, Siiri E. Iismaa, Ashish Mehta, Robert M. Graham
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic form of coronary artery disease of unknown cause that predominantly affects women (>90%; mean age 44–55 years) and can be fatal. The finding of familial clustering, including th
Externí odkaz:
https://doaj.org/article/71c421910d1e43aeae3cc17ebca17649
Autor:
Ingrid Tarr, Stephanie Hesselson, Siiri E. Iismaa, Emma Rath, Steven Monger, Michael Troup, Ketan Mishra, Claire M.Y. Wong, Pei-Chen Hsu, Keerat Junday, David T. Humphreys, David Adlam, Tom R. Webb, Anna A. Baranowska-Clarke, Stephen E. Hamby, Keren J. Carss, Nilesh J. Samani, Monique Bax, Lucy McGrath-Cadell, Jason C. Kovacic, Sally L. Dunwoodie, Diane Fatkin, David W.M. Muller, Robert M. Graham, Eleni Giannoulatou
Publikováno v:
Circulation. Genomic and precision medicine. 15(4)
Background: Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary syndrome that predominantly affects women. Its pathophysiology remains unclear but connective tissue disorders (CTD) and other vasculopathies have been observed in
Autor:
Ketan Mishra, Arun Balodi
Publikováno v:
2022 IEEE Delhi Section Conference (DELCON).
Autor:
Zelia Corradi, Manar Salameh, Mubeen Khan, Elise Héon, Ketan Mishra, Rebekkah J. Hitti-Malin, Yahya AlSwaiti, Alice Aslanian, Eyal Banin, Brian P. Brooks, Wadih M. Zein, Robert B. Hufnagel, Susanne Roosing, Claire‐Marie Dhaenens, Dror Sharon, Frans P. M. Cremers, Alaa AlTalbishi
Publikováno v:
Investigative Ophthalmology and Visual Science, 63
Investigative Ophthalmology and Visual Science, 63, 4
Investigative Ophthalmology and Visual Science, 63, 4
Contains fulltext : 251966.pdf (Publisher’s version ) (Open Access) PURPOSE: The effect of noncoding variants is often unknown in the absence of functional assays. Here, we characterized an ABCA4 intron 7 variant, c.859-25A>G, identified in Palesti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5cfedd16596e1df749c92b9624515d
http://hdl.handle.net/2066/251966
http://hdl.handle.net/2066/251966
Autor:
David Adlam, Timothy M. Olson, Nicolas Combaret, Jason C. Kovacic, Siiri E. Iismaa, Abtehale Al-Hussaini, Megan M. O'Byrne, Sara Bouajila, Adrien Georges, Ketan Mishra, Peter S. Braund, Valentina d’Escamard, Siying Huang, Marios Margaritis, Christopher P. Nelson, Mariza de Andrade, Daniella Kadian-Dodov, Catherine A. Welch, Stephani Mazurkiewicz, Xavier Jeunemaitre, Claire Mei Yi Wong, Eleni Giannoulatou, Michael Sweeting, David Muller, Alice Wood, Lucy McGrath-Cadell, Diane Fatkin, Sally L. Dunwoodie, Richard Harvey, Cameron Holloway, Jean-Philippe Empana, Xavier Jouven, Jeffrey W. Olin, Rajiv Gulati, Marysia S. Tweet, Sharonne N. Hayes, Nilesh J. Samani, Robert M. Graham, Pascal Motreff, Nabila Bouatia-Naji, Loïc Belle, Patrick Dupouy, Pierre Barnay, Nicolas Meneveau, Martine Gilard, Gilles Rioufol, Grégoire Range, Philippe Brunel, Nicolas Delarche, Emmanuelle Filippi, Louis Le Bivic, Brahim Harbaoui, Hakim Benamer, Guillaume Cayla, Olivier Varenne, Stephane Peggy Manzo-Silberman, Johanne Silvain, Christian Spaulding, Christophe Caussin, Edouard Gerbaud, Yann Valy, René Koning, Thibault Lhermusier, Stanislas Champin, Emmanuel Salengro, Arnaud Fluttaz, Amer Zabalawi, Yves Cottin, Emmanuel Teiger, Christophe Saint-Etienne, Grégory Ducrocq, Stéphanie Marliere, Emmanuel Boiffard, Pierre Aubry, Jean Louis Georges, Didier Bresson, Fabien De Poli, Gaëtan Karrillon, Vincent Roule, Laurent Bali, Mathieu Valla, Antoine Gerbay, David Houpe, Olivier Dubreuil, Arsène Monnier, Norbert Mayaud, Aurélie Manchuelle, Philippe Commeau, Marc Bedossa, Majid Nikpay, Anuj Goel, Hong-Hee Won, Leanne M. Hall, Christina Willenborg, Stavroula Kanoni, Danish Saleheen, Theodosios Kyriakou, Jemma C. Hopewell, Thomas R. Webb, Lingyao Zeng, Abbas Dehghan, Maris Alver, Sebastian M. Armasu, Kirsi Auro, Andrew Bjonnes, Daniel I. Chasman, Shufeng Chen, Ian Ford, Nora Franceschini, Christian Gieger, Christopher Grace, Stefan Gustafsson, Jie Huang, Shih-Jen Hwang, Yun Kyoung Kim, Marcus E. Kleber, King Wai Lau, Xiangfeng Lu, Yingchang Lu, Leo P. Lyytikäinen, Evelin Mihailov, Alanna Morrison, Natalia Pervjakova, Liming Qu, Lynda M. Rose, Elias Salfati, Richa Saxena, Markus Scholz, Albert V. Smith, Emmi Tikkanen, Andre Uitterlinden, Xueli Yang, Weihua Zhang, Wei Zhao, Paul S. de Vries, Natalie R. van Zuydam, Sonia S. Anand, Lars Bertram, Frank Beutner, George Dedoussis, Philippe Frossard, Dominique Gauguier, Alison H. Goodall, Omri Gottesman, Marc Haber, Bok-Ghee Han, Jianfeng Huang, Shapour Jalilzadeh, Thorsten Kessler, Inke R. König, Lars Lannfelt, Wolfgang Lieb, Lars Lind, Cecilia M. Lindgren, Maisa Lokki, Patrik K. Magnusson, Nadeem H. Mallick, Narinder Mehra, Thomas Meitinger, Fazal-ur-Rehman Memon, Andrew P. Morris, Markku S. Nieminen, Nancy L. Pedersen, Annette Peters, Loukianos S. Rallidis, Asif Rasheed, Maria Samuel, Svati H. Shah, Juha Sinisalo, Kathleen E. Stirrups, Stella Trompet, Laiyuan Wang, Khan S. Zaman, Diego Ardissino, Eric Boerwinkle, Ingrid B. Borecki, Erwin P. Bottinger, Julie E. Buring, John C. Chambers, Rory Collins, L Adrienne Cupples, John Danesh, Ilja Demuth, Roberto Elosua, Stephen E. Epstein, Tõnu Esko, Mary F. Feitosa, Oscar H. Franco, Maria Grazia Franzosi, Christopher B. Granger, Dongfeng Gu, Vilmundur Gudnason, Alistair S. Hall, Anders Hamsten, Tamara B. Harris, Stanley L. Hazen, Christian Hengstenberg, Albert Hofman, Erik Ingelsson, Carlos Iribarren, J Wouter Jukema, Pekka J. Karhunen, Bong-Jo Kim, Jaspal S. Kooner, Iftikhar J. Kullo, Terho Lehtimäki, Ruth J. Loos, Olle Melander, Andres Metspalu, Winfried März, Colin N. Palmer, Markus Perola, Thomas Quertermous, Daniel J. Rader, Paul M. Ridker, Samuli Ripatti, Robert Roberts, Veikko Salomaa, Dharambir K. Sanghera, Stephen M. Schwartz, Udo Seedorf, Alexandre F. Stewart, David J. Stott, Joachim Thiery, Pierre A. Zalloua, Christopher J. O'Donnell, Muredach P. Reilly, Themistocles L. Assimes, John R. Thompson, Jeanette Erdmann, Robert Clarke, Hugh Watkins, Sekar Kathiresan, Ruth McPherson, Panos Deloukas, Heribert Schunkert, Martin Farrall
Publikováno v:
Journal of the American College of Cardiology
Journal of the American College of Cardiology, Elsevier, 2019, 73 (1), pp.58-66. ⟨10.1016/j.jacc.2018.09.085⟩
Journal of the American College of Cardiology, Elsevier, 2019, 73 (1), pp.58-66. ⟨10.1016/j.jacc.2018.09.085⟩
Background: \ud Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndromes (ACS) afflicting predominantly younger to middle-aged women. Observational studies have reported a high prevalence of extrac
Autor:
Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin
Publikováno v:
Genetics in Medicine
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-
Autor:
Margeaux Hodgson-Garms, Ethan Ford, Joseph Chen, Jahnvi Pflueger, Jacob M. Paynter, Carmel M. O’Brien, Cheng Huang, Susan K. Nilsson, Ketan Mishra, Christian M. Nefzger, Andrew L. Laslett, Natasha Jansz, Xiaodong Liu, Sarah M. Williams, Fernando J. Rossello, Ralf B. Schittenhelm, Hun S. Chy, Anja S Knaupp, Marnie E. Blewitt, Jose M. Polo, Ryan Lister, Jaber Firas
Publikováno v:
Nature Methods. 14:1055-1062
Recent reports on the characteristics of naive human pluripotent stem cells (hPSCs) obtained using independent methods differ. Naive hPSCs have been mainly derived by conversion from primed hPSCs or by direct derivation from human embryos rather than
Autor:
Carel B. Hoyng, Yahya AlSwaiti, Lubica Dudakova, Alexander Hoischen, Lisa Roberts, Christian Gilissen, Michael B. Gorin, Marc Pieterse, Isabelle Meunier, Damjan Glavač, Jacek P. Szaflik, Andrea L Vincent, Dror Sharon, Xavier Zanlonghi, Martine van Zweeden, Monika Ołdak, Bernard Puech, Camiel J. F. Boon, Femke Bults, Anna M. Tracewska, Marloes Steehouwer, Caroline C W Klaver, Jacquie Greenberg, Hadas Newman, Bohdan Kousal, Miriam Bauwens, Bernard H.F. Weber, Smaragda Kamakari, G. Jane Farrar, Eyal Banin, Elfride De Baere, Jennifer A. Thompson, Adrian Dockery, Marcela D. Mena, Tamar Ben-Yosef, Manar Salameh, Laura Whelan, Tina M. Lamey, L. Ingeborgh van den Born, Ana Fakin, Frans P.M. Cremers, Klaus Rüther, Buhle Ntozini, Sandro Banfi, Claire-Marie Dhaenens, Raj Ramesar, Georg Spital, Osvaldo L. Podhajcer, Heidi Stöhr, Ulrich Kellner, Esmee H. Runhart, Herbert Jägle, John N. De Roach, Kaoru Fujinami, Marta Del Pozo-Valero, Takaaki Hayashi, Juliana Maria Ferraz Sallum, Petra Liskova, Terri L. McLaren, Karsten Hufendiek, Marianthi Karali, Stéphanie S. Cornelis, Sabine Defoort, Ymkje M. Hettinga, Francesca Simonelli, Alaa AlTabishi, Mubeen Khan, Caroline Thuillier, Anna Matynia, Carmen Ayuso, Ketan Mishra, Mariana Vallim Salles, Ian M. MacDonald, Aurore Devos, Rianne Miller
Missing heritability in human diseases represents a major challenge. Although whole-genome sequencing enables the analysis of coding and non-coding sequences, substantial costs and data storage requirements hamper its large-scale use to (re)sequence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e07f399c9d8c1ee433e6af3c48b541
Autor:
Michael R, Larcombe, Jan, Manent, Joseph, Chen, Ketan, Mishra, Xiaodong, Liu, Christian M, Nefzger
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1940
Lentiviral gene transfer technologies exploit the natural efficiency of viral transduction to integrate exogenous genes into mammalian cells. This provides a simple research tool for inducing transgene expression or endogenous gene knockdown in both