Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Peter Kannu"'
Autor:
Tanvi Anandampillai, Peter Kannu, Yigal Dror, Roberto Mendoza-Londono, Irene Lara-Corrales, Yiming Wang
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101223- (2024)
Externí odkaz:
https://doaj.org/article/b380a7c4434942e8ba653fb092caa950
Autor:
Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi
Externí odkaz:
https://doaj.org/article/47a113198d5649e88315ddec99f2067f
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-9 (2021)
Abstract Introduction Acro-osteolysis is a radiographic finding which refers to bone resorption of the distal phalanges. Acro-osteolysis is associated with various conditions and its presence should prompt the clinician to search for the underlying e
Externí odkaz:
https://doaj.org/article/616aafd27c404f86b97db8dcbb4512ae
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
Autor:
Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving
Publikováno v:
Therapeutic Advances in Musculoskeletal Disease, Vol 14 (2022)
Background: Achondroplasia is the most common short-limbed skeletal dysplasia resulting from gain-of-function pathogenic variants in fibroblast growth factor receptor 3 ( FGFR3 ) gene, a negative regulator of endochondral bone formation. Most treatme
Externí odkaz:
https://doaj.org/article/1c346c9389564e0d8a57401f2309d651
Autor:
Oliver A. Kent, Manipa Saha, Etienne Coyaud, Helen E. Burston, Napoleon Law, Keith Dadson, Sujun Chen, Estelle M. Laurent, Jonathan St-Germain, Ren X. Sun, Yoshinori Matsumoto, Justin Cowen, Aaryn Montgomery-Song, Kevin R. Brown, Charles Ishak, Jose La Rose, Daniel D. De Carvalho, Housheng Hansen He, Brian Raught, Filio Billia, Peter Kannu, Robert Rottapel
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Mutations in RAS-MAPK pathway genes are implicated in Noonan-spectrum, yet up to 20% of cases have unknown cause. Here, the authors identify RREB1 underlying a 6p microdeletion RASopathy-like syndrome and show that RREB1, SIN3A and KDM1A form a trans
Externí odkaz:
https://doaj.org/article/7477dd54517347169cc4551af1667746
Autor:
Nadirah Damseh, Jennifer Stimec, Alan O’Brien, Christian Marshall, Ravi Savarirayan, Ali Jawad, Ronald Laxer, Peter Kannu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Familial digital arthropathy-brachydactyly (FDAB) and Thiemann disease are non-inflammatory digital arthropathies with many phenotypic similarities. Thirty-three cases of Thiemann disease have been described so far (Mangat et al,
Externí odkaz:
https://doaj.org/article/499c902cb82146df80ae1c5f1887a777
Autor:
Fady Hannah-Shmouni, Lauren MacNeil, Irene Lara-Corrales, Elena Pope, Peter Kannu, Neal Sondheimer
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identifie
Externí odkaz:
https://doaj.org/article/52761cf367d540048407464b5a5141ca
Autor:
Gregory Costain, Aideen M. Moore, Lauren Munroe, Alison Williams, Randi Zlotnik Shaul, Cheryl Rockman-Greenberg, Martin Offringa, Peter Kannu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 22-26 (2018)
Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is partic
Externí odkaz:
https://doaj.org/article/e73fde8deed14693b673ace1c4f6e110
Autor:
Apurba Mainali, Taryn Athey, Shalini Bahl, Clara Hung, Oana Caluseriu, Alicia Chan, Alison Eaton, Shailly Jain Ghai, Peter Kannu, Melissa MacPherson, Karen Y. Niederhoffer, Komudi Siriwardena, Saadet Mercimek‐Andrews
Publikováno v:
American Journal of Medical Genetics Part A. 191:510-517
Clinical exome sequencing (ES) is the most comprehensive genomic test to identify underlying genetic diseases in Canada. We performed this retrospective cohort study to investigate the diagnostic yield of clinical ES in adulthood. Inclusion criteria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d79e214f859370a4881855d5ab5fc7c
https://doi.org/10.1002/ajmg.a.63053
https://doi.org/10.1002/ajmg.a.63053