Rezultati - Haloom Rafehi
- Showing 1 - 14 results of 14
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Galectin-3 deficiency ameliorates fibrosis and remodeling in dilated cardiomyopathy mice with enhanced Mst1 signaling od My‐Nhan Nguyen, Mark Ziemann, Helen Kiriazis, Yidan Su, Z. Thomas, Qun Lu, D. Donner, Weibo Zhao, Haloom Rafehi, Junichi Sadoshima, Julie R. McMullen, Assam El‐Osta, Xiao‐Jun Du
Izdano 2018Artigo -
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Vascular histone deacetylation by pharmacological HDAC inhibition od Haloom Rafehi, Aneta Balcerczyk, Sebastian Lunke, Antony Kaspi, Mark Ziemann, Harikrishnan KN, Jun Okabe, Ishant Khurana, Jenny Y. Y. Ooi, Abdul Waheed Khan, Xiao‐Jun Du, Lisa Chang, Izhak Haviv, Samuel T. Keating, Tom C. Karagiannis, Assam El‐Osta
Izdano 2014Artigo -
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Sex-Specific Control of Human Heart Maturation by the Progesterone Receptor od Choon Boon Sim, Belinda Phipson, Mark Ziemann, Haloom Rafehi, Richard J. Mills, Kevin I. Watt, Dad Abu-Bonsrah, Ravi Kiran Reddy Kalathur, Holly K. Voges, Doan T. Dinh, Menno ter Huurne, Céline Vivien, Antony Kaspi, Harikrishnan Kaipananickal, Alejandro Hidalgo, L.M.D. Delbridge, Rebecca L. Robker, Paul Gregorevic, Cristobal G. dos Remedios, Sean Lal, Adam T. Piers, Igor E. Konstantinov, David A. Elliott, Assam El‐Osta, Alicia Oshlack, James E. Hudson, Enzo R. Porrello
Izdano 2021Artigo -
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 od Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
Izdano 2022Artigo -
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Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetes od Ishant Khurana, Harikrishnan Kaipananickal, Scott Maxwell, Sørine Birkelund, Anna Syreeni, Carol Forsblom, Jun Okabe, Mark Ziemann, Antony Kaspi, Haloom Rafehi, Anne Jørgensen, Keith Al‐Hasani, Merlin C. Thomas, Guozhi Jiang, Andrea O. Y. Luk, Heung Man Lee, Yü Huang, Yotsapon Thewjitcharoen, Soontaree Nakasatien, Thep Himathongkam, Christopher L. Fogarty, Rachel Njeim, Assaad A. Eid, Tine W. Hansen, Nete Tofte, Evy C. Ottesen, Ronald C.W., Juliana C.N. Chan, Mark E. Cooper, Peter Rossing, Per‐Henrik Groop, Assam El‐Osta
Izdano 2023Artigo -
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 od Haloom Rafehi, Justin Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E. Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart
Izdano 2023Errata/Corrigenda -
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Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone od Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay Ganesh, Roula Ghaoui, Kristi Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O’Donnell‐Luria, Gina O’Grady, Ikeoluwa Osei‐Owusu, Haloom Rafehi, Stephen Reddel, Richard Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
Izdano 2024Artigo -
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS od Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmágyi, Solange Kapetanovic, Anthony E. Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan Perlman, Ian Rosemergy, Elsdon Storey, Shaun R. D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart
Izdano 2019Artigo -
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 od Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Éloi Magnin, Anne‐Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Gießelmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornéa, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean‐François Deleuze, Yannick Delpu, Mario Davide Maria Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Édouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpaß, Bernhard Horsthemke, Samuel F. Berkovic, Francesca Bisulli, Francesco Brancati, Laura Canafoglia, Giorgio Casari, Renzo Guerrini, Hiroyuki Ishiura, Laura Licchetta, Davide Mei, Tommaso Pippucci, Lynette G. Sadleir, Ingrid E. Scheffer, Pasquale Striano, Paolo Tinuper, Shoji Tsuji, Federico Zara, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gécz, Mark Corbett, Marina A.J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
Izdano 2019Artigo
Iskalna orodja:
Sorodne teme
Biology
Genetics
Gene
Cell biology
Medicine
Endocrinology
Internal medicine
Allele
Bioinformatics
Trinucleotide repeat expansion
Biochemistry
Gene expression
Genome
Neuroscience
Acetylation
Ataxia
Cancer
Cell
Cell culture
Chemistry
Chromatin
Chromatin immunoprecipitation
Clonogenic assay
Computational biology
DNA sequencing
Diabetes mellitus
Epigenetics
Histone
Molecular biology
Promoter