Zobrazeno 1 - 10
of 489
pro vyhledávání: '"Richard P, Lifton"'
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Le Thi Hao, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Quentin J. Moyer, Evan Dennis, Emre Kiziltug, Adam J. Kundishora, Tyrone DeSpenza, Ana B. W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)
Abstract To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human ce
Externí odkaz:
https://doaj.org/article/3ca7b90963454521ac767ab9c7496a24
Autor:
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/8a927eb5859b43cf96c9c3e30c509b07
Autor:
Jae Yeon Hwang, Pengxin Chai, Shoaib Nawaz, Jungmin Choi, Francesc Lopez-Giraldez, Shabir Hussain, Kaya Bilguvar, Shrikant Mane, Richard P Lifton, Wasim Ahmad, Kai Zhang, Jean-Ju Chung
Publikováno v:
eLife, Vol 12 (2023)
Radial spokes (RS) are T-shaped multiprotein complexes on the axonemal microtubules. Repeated RS1, RS2, and RS3 couple the central pair to modulate ciliary and flagellar motility. Despite the cell type specificity of RS3 substructures, their molecula
Externí odkaz:
https://doaj.org/article/d9710931c5ef46c08e60e959f221e930
Autor:
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Abstract Background We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15–20% of cases of life-threatening
Externí odkaz:
https://doaj.org/article/86e4db2aa39842caa8f2f5c9e6d95290
Autor:
Gabriel Stölting, Hoang An Dinh, Marina Volkert, Nicole Hellmig, Julia Schewe, Luise Hennicke, Eric Seidel, Herbert Oberacher, Junhui Zhang, Richard P. Lifton, Iris Urban, Melissa Long, Marion Rivalan, Timothy Nottoli, Ute I. Scholl
Publikováno v:
JCI Insight, Vol 8, Iss 20 (2023)
Somatic gain-of-function mutations in the L-type calcium channel CaV1.3 (CACNA1D gene) cause adrenal aldosterone-producing adenomas and micronodules. De novo germline mutations are found in a syndrome of primary aldosteronism, seizures, and neurologi
Externí odkaz:
https://doaj.org/article/0f1408c346d041e89ff1b8c5e1468840
Autor:
Weilai Dong, Karen H.Y. Wong, Youbin Liu, Michal Levy-Sakin, Wei-Chien Hung, Mo Li, Boyang Li, Sheng Chih Jin, Jungmin Choi, Francesc Lopez-Giraldez, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Irina Movsesyan, Mary J. Malloy, Hongyu Zhao, Pui-Yan Kwok, John P. Kane, Richard P. Lifton, Clive R. Pullinger
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 6, Pp 100209- (2022)
Low levels of high density lipoprotein-cholesterol (HDL-C) are associated with an elevated risk of arteriosclerotic coronary heart disease. Heritability of HDL-C levels is high. In this research discovery study, we used whole-exome sequencing to iden
Externí odkaz:
https://doaj.org/article/9009d5614d1843c1a294988f08875cf9
Autor:
Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanıdır, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan‐Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Backgrounds While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods We recruited 73 CHD probands from consanguineous f
Externí odkaz:
https://doaj.org/article/39b2f4ecf67e4a60a85026ddb21fc06b
Autor:
Hanmin Guo, Lin Hou, Yu Shi, Sheng Chih Jin, Xue Zeng, Boyang Li, Richard P Lifton, Martina Brueckner, Hongyu Zhao, Qiongshi Lu
Publikováno v:
eLife, Vol 11 (2022)
Exome sequencing on tens of thousands of parent-proband trios has identified numerous deleterious de novo mutations (DNMs) and implicated risk genes for many disorders. Recent studies have suggested shared genes and pathways are enriched for DNMs acr
Externí odkaz:
https://doaj.org/article/b478a942d7ba4b5d8bc9e5c444088253
Autor:
Youying Mao, Ronen Schneider, Peter F.M. van der Ven, Marvin Assent, Keerthika Lohanadan, Verena Klämbt, Florian Buerger, Thomas M. Kitzler, Konstantin Deutsch, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Tobias Hermle, Ana C. Onuchic-Whitford, Wei Zhou, Nandini Nagarajan Margam, Roy Duncan, Jonathan Marquez, Mustafa Khokha, Hanan M. Fathy, Jameela A. Kari, Sherif El Desoky, Loai A. Eid, Hazem Subhi Awad, Muna Al-Saffar, Shrikant Mane, Richard P. Lifton, Dieter O. Fürst, Shirlee Shril, Friedhelm Hildebrandt
Publikováno v:
Kidney International Reports, Vol 6, Iss 2, Pp 472-483 (2021)
Introduction: Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a “podocytopathy.” Methods: We performed whole-exome sequencing (WE
Externí odkaz:
https://doaj.org/article/dd37eae7f792449e9379ede47e4cb65a
Autor:
Verena Klämbt, Youying Mao, Ronen Schneider, Florian Buerger, Hanan Shamseldin, Ana C. Onuchic-Whitford, Konstantin Deutsch, Thomas M. Kitzler, Makiko Nakayama, Amar J. Majmundar, Nina Mann, Hannah Hugo, Eugen Widmeier, Weizhen Tan, Heidi L. Rehm, Shrikant Mane, Richard P. Lifton, Fowzan S. Alkuraya, Shirlee Shril, Friedhelm Hildebrandt
Publikováno v:
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
Introduction: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of chronic kidney disease during childhood. Identification of 63 monogenic human genes has delineated 12 distinct pathogenic pathways. Methods: Here, we generat
Externí odkaz:
https://doaj.org/article/ac1e1122125e4dcbb6b4e8d10596a17b