Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Richard P, Lifton"'
Autor:
Andrew T. Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M. Wolfe, Amy L. Stiegler, Titus J. Boggon, May Sanyoura, Michelle Morrow, Tara L. Wenger, Erica M. Fernandes, Oana Caluseriu, John A. Persing, Sheng Chih Jin, Richard P. Lifton, Kristopher T. Kahle, Paul Kruszka
Publikováno v:
The American Journal of Human Genetics. 110:846-862
Autor:
Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis
Publikováno v:
Am J Hum Genet
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, w
Autor:
Toshimitsu Kawate, Amar J. Majmundar, Dervla M. Connaughton, Amelie T. van der Ven, Rufeng Dai, Jameela A. Kari, Caroline M. Kolvenbach, Madeleine J. Tooley, Mohamed A. Shalaby, Ryan E. Hibbs, Erik Henze, Shirlee Shril, Jing Chen, Sherif El Desoky, Nina Mann, Stuart B. Bauer, Lucy Bownass, Hadas Ityel, Richard P. Lifton, Makiko Nakayama, Velibor Tasic, Shrikant Mane, Chen Han W. Wu, Jonathan M. Beckel, Heiko Reutter, Verena Klämbt, Sian Ellard, Weiqun Yu, Franziska Kause, Friedhelm Hildebrandt, Elisa De Franco, Anant Gharpure, Richard S. Lee
Publikováno v:
Am J Hum Genet
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life, and in utero obstruction to urine flow is a frequent cause of secondary upper urinary tract malformat
Autor:
Holger Thiele, Elke Holinski-Feder, Michael Kloth, Markus M. Nöthen, Gabriela Möslein, Richard P. Lifton, Reinhard Büttner, Glen Kristiansen, Bixiao Zhao, Jonathan Marquez, Inga Hinrichsen, Janine Altmüller, Andreas Laner, Sukanya Horpaopan, Jutta Kirfel, Angela Brieger, Aylar Tafazzoli, Stefanie Holzapfel, Regina C. Betz, Nicolaus Friedrichs, Ronja Adam, Siegfried Uhlhaas, Sophia Peters, Isabel Spier, Giancarlo Marra, Dietlinde Stienen, Katrin Kayser, Stefan Aretz
Publikováno v:
The American Journal of Human Genetics. 99(2):337-351
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although a hereditary etiology is likely. To uncover further genes w
Autor:
Jürgen Ruland, Mohsen Fathzadeh, Likun Tian, Richard P. Lifton, Eric N. Olson, Mohammad Kazemi, Farhad Montazeri, Mitra Mani, Mohammad Hashemi, Lakshman Subrahmanyan, Brian G. Coon, Carol Nelson-Williams, Michael L. Begleiter, Shrikant Mane, Murim Choi, Hongyu Zhao, Henry T. Lynch, Emily M. Smith, Na Li, Arya Mani, Samir Zaidi, Mohaddeseh Behjati, Anand Narayanan, Xiaoqing Yu
Publikováno v:
The American Journal of Human Genetics. 98:1082-1091
Nonsyndromic patent ductus arteriosus (PDA) is a common congenital heart defect (CHD) with both inherited and acquired causes, but the disease mechanisms have remained elusive. Using combined genome-wide linkage analysis and whole-exome sequencing (W
Autor:
Francesc López-Giráldez, Eric Boerwinkle, Julie Hoover-Fong, Alan F. Scott, Frederic Reinier, V. Reid Sutton, Kimberly F. Doheny, Holly K. Tabor, Tomasz Gambin, Murat Gunel, Debra J. H. Mathews, Hua Ling, Aravinda Chakravarti, Donna M. Muzny, Richard A. Gibbs, Elizabeth Blue, Karynne E. Patterson, Suzanne M. Leal, Michael J. Bamshad, Richard P. Lifton, Shrikant Mane, Wojciech Wiszniewski, James R. Lupski, Nara Sobreira, C. D. Boehm, Joshua D. Smith, Lee Watkins, P. Dane Witmer, Kaya Bilguvar, Zeynep Coban Akdemir, Jessica X. Chong, Shalini N. Jhangiani, Jay Shendure, Kurt N. Hetrick, Kati J. Buckingham, Ada Hamosh, Martin Kircher, Deborah A. Nickerson, David Valle, Dimitri Avramopoulos, Margaret J. McMillin, Tanya M. Harrell
Publikováno v:
The American Journal of Human Genetics. 97(2):199-215
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct diagnosis. Such discoveries also contribute to our knowledge of gene function
Autor:
Ali G. Gharavi, Michael M. Kaminski, Rachel Shukrun, Heiko Reutter, Asaf Vivante, Soeren S. Lienkamp, Elijah O. Kehinde, Julian Schulz, Timothy H.J. Goodship, Richard S. Lee, Daniel P. Doody, Amita Sharma, Rolf Beetz, Marc Jens Kleppa, Simone Sanna-Cherchi, Stefan Kohl, Adrian S. Woolf, Sjirk J. Westra, Stuart B. Bauer, Jing Chen, Harald Jüppner, Weining Lu, Richard P. Lifton, Velibor Tasic, Anja Lehnhardt, Anna Carina Weiss, Sally Feather, Miguel Verbitsky, Judith A. Goodship, Andreas Kispert, Rosalyn M. Adam, Shirlee Shril, Helen M. Stuart, Daw Yang Hwang, Markus J. Kemper, Erika J. Mancini, Friedhelm Hildebrandt
Publikováno v:
The American Journal of Human Genetics. 97:291-301
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life. Identification of single-gene mutations that cause CAKUT permits the first insights into related dis
Autor:
Abigail A. Hawkins, Richard P. Lifton, Bulent Guclu, Michael L. DiLuna, Ali K. Ozturk, Murat Gunel, Karin E. Finberg, Brian V. Nahed, Matthew W. State, Askin Seker
Publikováno v:
The American Journal of Human Genetics. (1):172-179
The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large effect. Intracranial aneurysm is a common neurological problem; the rupture of these aneurysms
Autor:
Angeliki Louvi, Gamze Tanriover, Thomas Morgan, Matthew W. State, A. Gulhan Ercan-Sencicek, Abha R. Gupta, Thomas Biederer, Betul Bakkaloglu, Richard P. Lifton, Althea A. Stillman, Ami Klin, Brian J. O'Roak, Elissa M. Robbins, Murat Gunel, Jesse F. Abelson, Katarzyna Chawarska, Daniel H. Geschwind, Brett S. Abrahams, Jackie A. Duvall
Publikováno v:
The American Journal of Human Genetics. (1):165-173
demonstrate the presence of CNTNAP2 in the synaptic plasma membrane fraction of rat forebrain lysates. We comprehensively resequenced CNTNAP2 in 635 patients and 942 controls. Among patients, we identified a total of 27 nonsynonymous changes; 13 were
Autor:
Yaping Yang, Sabrina Burn, Muddathir H. Hamad, Patrick M. Nolan, Mustafa A. Salih, Sergio Padilla-Lopez, Sarah Wiethoff, Anna Yarrow, Heba Y. El Khashab, Nicole I. Wolf, Brij B. Singh, Mariet W. Elting, Marjan M. Weiss, Yuyang Sun, Henry Houlden, Richard P. Lifton, Quinten Waisfisz, Indra Chandrasekar, Michael C. Kruer, Hamid Azzedine, Shrikant Mane, Karl J. Clark, Sara Wells, Lauren J. McBeth, Colleen Muraresku, Abraham Acevedo-Arozena, Marianna Madeo, Jill A. Rosenfeld, Nadia Sahir, Tyler N. Jepperson, Marni J. Falk, Mohammed Zain Seidahmed, Megan Landsverk, Angela Myers, Elizabeth M. McCormick, Silvia Corrochano, Dawn Cordeiro, Saadet Mercimek-Mahmutoglu, Michelle Stewart, Patricia L. Crotwell, Kaya Bilguvar
Publikováno v:
Madeo, M, Stewart, M, Sun, Y, Sahir, N, Wiethoff, S, Chandrasekar, I, Yarrow, A, Rosenfeld, J A, Yang, Y, Cordeiro, D, McCormick, E M, Muraresku, C C, Jepperson, T N, McBeth, L J, Seidahmed, M Z, El Khashab, H Y, Hamad, M, Azzedine, H, Clark, K, Corrochano, S, Wells, S, Elting, M W, Weiss, M M, Burn, S, Myers, A, Landsverk, M, Crotwell, P L, Waisfisz, Q, Wolf, N I, Nolan, P M, Padilla-Lopez, S, Houlden, H, Lifton, R, Mane, S, Singh, B B, Falk, M J, Mercimek-Mahmutoglu, S, Bilguvar, K, Salih, M A, Acevedo-Arozena, A & Kruer, M C 2016, ' Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy ', American journal of human genetics, vol. 98, no. 6, pp. 1249-1255 . https://doi.org/10.1016/j.ajhg.2016.04.008
American journal of human genetics, 98(6), 1249-1255. Cell Press
American journal of human genetics, 98(6), 1249-1255. Cell Press
Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many severe childhood mo