Risultati della ricerca - Raymond T. O’Keefe

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  1. 1
    Dynamic organization of DNA replication in mammalian cell nuclei: spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences.

    Dynamic organization of DNA replication in mammalian cell nuclei: spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences. di Raymond T. O’Keefe, Scott C. Henderson, DL Spector

    Pubblicazione 1992
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  2. 2
    The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing

    The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing di Rebecca Hogg, Joanne C. McGrail, Raymond T. O’Keefe

    Pubblicazione 2010
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  3. 3
    The Invariant U5 snRNA Loop 1 Sequence Is Dispensable for the First Catalytic Step of pre-mRNA Splicing in Yeast

    The Invariant U5 snRNA Loop 1 Sequence Is Dispensable for the First Catalytic Step of pre-mRNA Splicing in Yeast di Raymond T. O’Keefe, Christine M. Norman, Andrew J. Newman

    Pubblicazione 1996
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  4. 4
    The Role of the U5 snRNP in Genetic Disorders and Cancer

    The Role of the U5 snRNP in Genetic Disorders and Cancer di K Wood, Megan A. Eadsforth, William G. Newman, Raymond T. O’Keefe

    Pubblicazione 2021
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  5. 5
    Non-coding RNAs and disease: the classical ncRNAs make a comeback

    Non-coding RNAs and disease: the classical ncRNAs make a comeback di Rogério Alves de Almeida, Marcin G. Fraczek, Steven J. Parker, Daniela Delneri, Raymond T. O’Keefe

    Pubblicazione 2016
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  6. 6
    New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

    New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder di Rabia Faridi, Alessandro Rea, Cristina Fenollar‐Ferrer, Raymond T. O’Keefe, Shoujun Gu, Zunaira Munir, Asma A. Khan, Sheikh Riazuddin, Michael Hoa, Sadaf Naz, William G. Newman, Thomas B. Friedman

    Pubblicazione 2021
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  7. 7
    A KRAS-responsive long non-coding RNA controls microRNA processing

    A KRAS-responsive long non-coding RNA controls microRNA processing di Lei Shi, Peter Magee, Matteo Fassan, Sudhakar Sahoo, Hui Sun Leong, Dave Lee, Robert Sellers, Laura Brullé-Soumaré, Stefano Cairo, Tiziana Monteverde, Stefano Volinia, Duncan Smith, Gianpiero Di Leva, Francesca Galuppini, Athanasios R. Paliouras, Kang Zeng, Raymond T. O’Keefe, Michela Garofalo

    Pubblicazione 2021
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  8. 8
    Expanding the genotypic spectrum of Perrault syndrome

    Expanding the genotypic spectrum of Perrault syndrome di Leigh Demain, Jill Urquhart, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Emma M. Jenkinson, Charles Marques Lourenço, Arvid Heiberg, Simon H. S. Pearce, Stavit A. Shalev, Wyatt W. Yue, Sabrina MacKinnon, Kevin J. Munro, Ruth Newbury‐Ecob, Kerstin Becker, M.J. Kim, Raymond T. O. Keefe, William G. Newman

    Pubblicazione 2016
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  9. 9
    A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

    A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations di Ranjay Jayadev, Mychel Morais, Jamie M. Ellingford, Sandhya Srinivasan, Richard W. Naylor, Craig Lawless, Anna S Li, Jack Ingham, Eric Hastie, Qiuyi Chi, Maryline Fresquet, Nikki-Maria Koudis, Huw B. Thomas, Raymond T. O’Keefe, E. G. Williams, Antony Adamson, Helen M. Stuart, Siddharth Banka, Damian Smedley, David R. Sherwood, Rachel Lennon

    Pubblicazione 2022
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  10. 10
    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease di Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert, K Wood, Filip Van den Broeck, Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Carlo Rivolta, Raymond T. O’Keefe, Jamie M. Ellingford, Andrew R. Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P. Leroy, Elfride De Baere, Frauke Coppieters

    Pubblicazione 2024
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  11. 11
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome di Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, D. Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton‐Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Fılız Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenço, Ute Hehr, Eva-Christina Prott, Mélanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, H.-J. Lüdecke, Tim M. Strom

    Pubblicazione 2014
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  12. 12
    Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

    Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations di Irit Hochberg, Leigh Demain, Julie Richer, Kyle Thompson, Jill Urquhart, Alessandro Rea, Waheeda Pagarkar, Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Aurora Pujol, Pilar Quijada‐Fraile, Albert Amberger, Andrea Deutschmann, Sandra Demetz, Meredith Gillespie, Inna A. Belyantseva, Hugh J. McMillan, Melanie Barzik, Glenda M. Beaman, Reeya Motha, Kah Ying Ng, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Isabella Rachel Lawrence, Emma M. Jenkinson, Jessica L. Zambonin, Zeev Blumenfeld, Sergey Yalonetsky, Stephanie Oerum, Walter Rossmanith, Wyatt W. Yue, Johannes Zschocke, Kevin J. Munro, Brendan J. Battersby, Thomas B. Friedman, Robert W. Taylor, Raymond T. O’Keefe, William G. Newman

    Pubblicazione 2021
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  13. 13
    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency di Huw B. Thomas, Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea, Thashi Bharadwaj, Thomas B. Smith, Monika Oláhová, Kyle Thompson, Langping He, Namanpreet Kaur, Anju Shukla, Musaad Abukhalid, Muhammad Ansar, Sakina Rehman, Saima Riazuddin, Firdous Abdulwahab, Janine Smith, Zornitza Stark, Hanifenur Mancılar, Sait Tümer, Fatma Nisa Esen, Eyyüp Üçtepe, Vehap Topçu, Ahmet Yeşilyurt, Erum Afzal, Mehri Salari, Christopher J. Carroll, Giovanni Zifarelli, Peter Bauer, Deniz Kör, Fatma Derya Bulut, Henry Houlden, Reza Maroofian, Samantha Carrera, Wyatt W. Yue, Kevin J. Munro, Fowzan S. Alkuraya, Peter Jamieson, Zubair M. Ahmed, Suzanne M. Leal, Robert W. Taylor, Ilka Wittig, Raymond T. O’Keefe, William G. Newman

    Pubblicazione 2025
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  14. 14
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome di Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta

    Pubblicazione 2025
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  15. 15
    Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney

    Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney di James Eales, Xiao Jiang, Xiaoguang Xu, Sushant Saluja, Artur Akbarov, Eddie Cano-Gamez, Michelle Mcnulty, Chris Finan, Hui Guo, Wojciech Wystrychowski, Monika Szulińska, Huw B. Thomas, Sanjeev Pramanik, Sandesh Chopade, Priscilla R. Prestes, Ingrid Wise, Εvangelos Εvangelou, Mahan Salehi, Yusif Shakanti, Mikael Ekholm, Matthew Denniff, Alicja Nazgiewicz, Felix Eichinger, Bradley Godfrey, Andrzej Antczak, Maciej Głyda, Robert Król, Stephen Eyre, Jason L. Brown, Carlo Berzuini, John Bowes, Mark J. Caulfield, E Zukowska-Szczechowska, Joanna Żywiec, Paweł Bogdański, Matthias Kretzler, Adrian S. Woolf, David Talavera, Bernard Keavney, Pasquale Maffia, Tomasz J. Guzik, Raymond T. O’Keefe, Gosia Trynka, Nilesh J. Samani, Aroon D. Hingorani, Matthew G. Sampson, Andrew P. Morris, Fadi J. Charchar, Maciej Tomaszewski

    Pubblicazione 2021
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  16. 16
    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts di Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence Goosey, Y Rose, Christopher J. Kershaw, Jill Urquhart, Simon G. Williams, Sanjeev S. Bhaskar, James D.B. O’Sullivan, Gabriela M. Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin Barañano, Angela Barnicoat, Roberta Battini, Andrea Berger, Edward Blair, Janice Brunstrom-Hernandez, Johannes Buckard, David Cassiman, Rosaline Caumes, Duccio Maria Cordelli, Liesbeth M De Waele, Alexander Fay, Patrick Ferreira, Nicholas Fletcher, Alan Fryer, Himanshu Goel, Cheryl Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Timothy J Malpas, Sarju Mehta, Imke Metz, SakkuBai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H. Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen Stewart, Jon Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma Wakeling, Andrea Whitney, Graham D. Pavitt, Sam Griffiths‐Jones, Gillian Rice, Patrick Revy, Marjo S. van der Knaap, John H. Livingston, Raymond T. O’Keefe, Yanick J. Crow

    Pubblicazione 2016
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  17. 17
    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders di Charlie F Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda M. Beaman, Panagiotis I. Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth A. Jones, Jill Clayton‐Smith, Andrew R. Webster, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, K. Witkowsa, S. M. Wood, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme Black, Jamie M. Ellingford

    Pubblicazione 2021
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