Zobrazeno 1 - 10
of 30
pro vyhledávání: '"P M, Campeau"'
Autor:
Alison H. Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J. Mitchell, Kim Angel, Jenifer Gentle, Maureen Smith, Martin Offringa, Nancy J. Butcher, Philippe M. Campeau, Pranesh Chakraborty, Alicia Chan, Dean Fergusson, Eva Mamak, Peyton McClelland, Saadet Mercimek-Andrews, Aizeddin Mhanni, Zeinab Moazin, Cheryl Rockman-Greenberg, C. Anthony Rupar, Becky Skidmore, Sylvia Stockler, Kednapa Thavorn, Alexandra Wyatt, Beth K. Potter, INFORM RARE Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background To inform the development of a core outcome set (COS) for children and youth with mucopolysaccharidoses (MPS), we aimed to identify all outcomes and associated outcome measurement instruments that are reported in recent clinical t
Externí odkaz:
https://doaj.org/article/3f5faa2b5e894b579d9b0f0a9ed05831
Autor:
Kenneth A. Wilson, Sudipta Bar, Eric B. Dammer, Enrique M. Carrera, Brian A. Hodge, Tyler A. U. Hilsabeck, Joanna Bons, George W. Brownridge, Jennifer N. Beck, Jacob Rose, Melia Granath-Panelo, Christopher S. Nelson, Grace Qi, Akos A. Gerencser, Jianfeng Lan, Alexandra Afenjar, Geetanjali Chawla, Rachel B. Brem, Philippe M. Campeau, Hugo J. Bellen, Birgit Schilling, Nicholas T. Seyfried, Lisa M. Ellerby, Pankaj Kapahi
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Dietary restriction (DR) delays aging, but the mechanism remains unclear. We identified polymorphisms in mtd, the fly homolog of OXR1, which influenced lifespan and mtd expression in response to DR. Knockdown in adulthood inhibited DR-mediat
Externí odkaz:
https://doaj.org/article/3db7a1cee89643b094c27462834817ac
Publikováno v:
Case Reports in Ophthalmology, Vol 13, Iss 3, Pp 804-808 (2022)
Colobomas of the globe and microphthalmia are congenital conditions that can strongly affect vision. Etiologies are varied and include embryonic and hereditary origins. We report what is, to the best of our knowledge, the first case of a SIX6 gene pa
Externí odkaz:
https://doaj.org/article/7b7af4fe5fbb4a28bf97384fdab595e5
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Muscle wasting in Duchenne Muscular Dystrophy is caused by myofiber fragility and poor regeneration that lead to chronic inflammation and muscle replacement by fibrofatty tissue. Our recent findings demonstrated that Resolvin-D2, a bioa
Externí odkaz:
https://doaj.org/article/8f034e07d71a4520a1d7c5f0f6a8741a
Autor:
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)
Summary: WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of h
Externí odkaz:
https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8
Autor:
Alison H. Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J. Mitchell, Nancy J. Butcher, Martin Offringa, Maureen Smith, Kim Angel, Jenifer Gentle, Alexandra Wyatt, Philippe M. Campeau, Alicia Chan, Pranesh Chakraborty, Farah El Turk, Eva Mamak, Aizeddin Mhanni, Becky Skidmore, Rebecca Sparkes, Sylvia Stockler, Beth K. Potter, in collaboration with the INFORM RARE Network
Publikováno v:
Trials, Vol 22, Iss 1, Pp 1-11 (2021)
Abstract Background Mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases characterized by chronic, progressive multi-system manifestations with varying degrees of severity. Disease-modifying therapies exist to treat some types of M
Externí odkaz:
https://doaj.org/article/57f0bc46d0ab4e048db0a236ad6299b8
Autor:
Patricia Diaz Escagedo, Melissa Fiscaletti, Patricia Olivier, Chloé Hudon, Valancy Miranda, Marie-Claude Miron, Philippe M. Campeau, Nathalie Alos
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Introduction Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. Children typically present with leg bowing, enlargement of wrists, rachitic rosary (swelling of costochondral junctions) and/or waddlin
Externí odkaz:
https://doaj.org/article/388d86b4b5884bb2ae8b4e5867042277
Autor:
Mary E. McQuaid, Kashif Ahmed, Stephanie Tran, Justine Rousseau, Ranad Shaheen, Kristin D. Kernohan, Kyoko E. Yuki, Prerna Grover, Ema S. Dreseris, Sameen Ahmed, Lucie Dupuis, Jennifer Stimec, Mary Shago, Zuhair N. Al-Hassnan, Roch Tremblay, Philipp G. Maass, Michael D. Wilson, Eyal Grunebaum, Kym M. Boycott, François-Michel Boisvert, Sateesh Maddirevula, Eissa A. Faqeih, Fahad Almanjomi, Zaheer Ullah Khan, Fowzan S. Alkuraya, Philippe M. Campeau, Peter Kannu, Eric I. Campos, Hugo Wurtele
Publikováno v:
JCI Insight, Vol 7, Iss 10 (2022)
The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report the identi
Externí odkaz:
https://doaj.org/article/3826d777770e43a3ada9bdd9c34ba315
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden. Quebec, Canada has a large Morquio A population, which is considered unique due to the
Externí odkaz:
https://doaj.org/article/ab535a104dc141ad91a3b4e89b311c88
Autor:
Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)
Summary: Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of geno
Externí odkaz:
https://doaj.org/article/625f01b427784d528fd75cff511b4125