Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Lorne A. Clarke"'
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
Autor:
Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P. Modi, Catherine M. Biggs, Cyrus Boelman, Lorne A. Clarke, Anna Lehman, Stuart E. Turvey
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100259- (2024)
Summary: Microtubule affinity-regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mammalian target of rapamycin (mTOR) pathway. Abnormal tau phosphorylation and dysregulation of
Externí odkaz:
https://doaj.org/article/bf3e9fa10478485a97952f4e524c5f92
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 91 (2020)
There have been significant advances allowing for the integration of mucopolysaccharidosis I into newborn screening programs. Initial experiences using a single-tier approach for this disorder have highlighted shortcomings that require immediate reme
Externí odkaz:
https://doaj.org/article/11454b4be60b480fa9f5cff059b876b9
Autor:
Andrés G. Santana, Kyle Robinson, Chelsea Vickers, Matthew C. Deen, Hong‐Ming Chen, Stephen Zhou, Ben Dai, Maria Fuller, Alisdair B. Boraston, David J. Vocadlo, Lorne A. Clarke, Stephen G. Withers
Publikováno v:
Angewandte Chemie International Edition. 61
Gaucher disease is a lysosomal storage disorder caused by mutations which destabilize the native folded form of GCase, triggering degradation and ultimately resulting in low enzyme activity. Pharmacological chaperones (PCs) which stabilize mutant GCa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11cfd89be4d14023d49389bff18b8a8c
https://doi.org/10.1002/anie.202207974
https://doi.org/10.1002/anie.202207974
Autor:
Lynda E. Polgreen, Luisa Bay, Lorne A. Clarke, Nathalie Guffon, Simon A. Jones, Joseph Muenzer, Ana Lorena Flores, Kathryn Wilson, David Viskochil
Publikováno v:
American journal of medical genetics. Part A. 188(10)
Mucopolysaccharidosis Type I (MPS I) is caused by deficiency of α-L-iduronidase. Short stature and growth deceleration are common in individuals with the attenuated MPS I phenotype. Study objectives were to assess growth in individuals with attenuat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9738a2cf2231978ff083bda228c63d88
https://pubmed.ncbi.nlm.nih.gov/35869927
https://pubmed.ncbi.nlm.nih.gov/35869927
Autor:
Lorne A. Clarke
Publikováno v:
Genetic Disorders and the Fetus. :868-889
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95daa91f4742b2e12e94ea42c8a75513
https://doi.org/10.1002/9781119676980.ch23
https://doi.org/10.1002/9781119676980.ch23
Autor:
Nicole Muschol, Benjamin R. Saville, Joseph Muenzer, Jonathan Morton, Heather R. Adams, Raymond Y. Wang, Maria L. Escolar, Shauna Kearney, Stewart Rust, Julie B. Eisengart, Roberto Giugliani, Lorne A. Clarke, Melissa Hogan, Elsa G Shapiro, Paul Harmatz, Margaret T. Semrud-Clikeman, Johanna Hanneke Van der Lee
Publikováno v:
Molecular genetics and metabolism, 131(1-2), 181-196. Academic Press Inc.
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understandin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cae9b439171bffeeeb33a5dca885bcc
https://doi.org/10.1016/j.ymgme.2020.08.007
https://doi.org/10.1016/j.ymgme.2020.08.007
Autor:
Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med
PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecbcc89382dda63f833e0863a3f1a46
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8
Autor:
Kyle Retterer, Carlos Borroto, Erin Beaver, Jane Juusola, Lorne A. Clarke, Kevin Galens, Zhancheng Zhang, Shuxi Liu, Jennifer Heeley, Kevin J. Arvai, Rebecca I. Torene, Jagdeep S. Walia, Julie Scuffins, Danna Hull, Bethany Friedman, Hana Sroka, Sarah Neil
Publikováno v:
Genetics in Medicine
Purpose Exome sequencing (ES) is increasingly used for the diagnosis of rare genetic disease. However, some pathogenic sequence variants within the exome go undetected due to the technical difficulty of identifying them. Mobile element insertions (ME
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13315fd555945d42f544841efab58148
http://europepmc.org/articles/PMC7200591
http://europepmc.org/articles/PMC7200591
Autor:
Kyle Robinson, Hermen S. Overkleeft, Stephen G. Withers, Lorne A. Clarke, Andrés G. Santana, Steven Zhou, Manuel Scherer
Publikováno v:
Chemical Science, 12(41), 13909-13913. ROYAL SOC CHEMISTRY
Chemical Science
Chemical Science
Gaucher's disease, the most prevalent lysosomal storage disorder, is caused by missense mutation of the GBA gene, ultimately resulting in deficient GCase activity, hence the excessive build-up of cellular glucosylceramide. Among different therapeutic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5153d693f8b026ddef61c43e08ee814c
https://hdl.handle.net/1887/3248685
https://hdl.handle.net/1887/3248685
Autor:
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0124987 (2015)
Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsM
Externí odkaz:
https://doaj.org/article/d2e2eaf3e691443aac855665f5d88ee5