Zobrazeno 1 - 10
of 130
pro vyhledávání: '"CHRISTOPHER R. MCMASTER"'
Autor:
Liam D. Redden, Douglas S.M. Iaboni, Sarah van der Ende, Mathew Nightingale, Daniel Gaston, Christopher R. McMaster, Johane M. Robitaille, R. Rishi Gupta
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102051- (2024)
Purpose: To report a rare clinical finding of preretinal granules associated with atypical familial exudative vitreoretinopathy (FEVR) and perform a review of the literature. Observations: An asymptomatic 18-year-old male was referred for unilateral
Externí odkaz:
https://doaj.org/article/f431d01d49954f5086b1f69028654a4a
Autor:
Abhishek Mishra, Mahtab Tavasoli, Stanislav Sokolenko, Christopher R. McMaster, Kishore B.S. Pasumarthi
Publikováno v:
iScience, Vol 27, Iss 1, Pp 108748- (2024)
Summary: It has been shown that atrial natriuretic peptide (ANP) and its high affinity receptor (NPRA) are involved in the formation of ventricular conduction system (VCS). Inherited genetic variants in fatty acid oxidation (FAO) genes are known to c
Externí odkaz:
https://doaj.org/article/2965de36686d4d4da3c2a89e3625fde5
Autor:
Mahtab Tavasoli, Sarah Lahire, Stanislav Sokolenko, Robyn Novorolsky, Sarah Anne Reid, Abir Lefsay, Meredith O. C. Otley, Kitipong Uaesoontrachoon, Joyce Rowsell, Sadish Srinivassane, Molly Praest, Alexandra MacKinnon, Melissa Stella Mammoliti, Ashley Alyssa Maloney, Marina Moraca, J. Pedro Fernandez-Murray, Meagan McKenna, Christopher J. Sinal, Kanneboyina Nagaraju, George S. Robertson, Eric P. Hoffman, Christopher R. McMaster
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-20 (2022)
Mutations in the CHKB gene cause muscular dystrophy. Here, the authors show that in mouse models of the disease changes in lipid metabolism are associated with decreased PPAR signaling, and show PPAR agonists can rescue expression of injury markers i
Externí odkaz:
https://doaj.org/article/8397e994802c4cd4af32c80fc27420fc
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 8, Pp 100213- (2022)
Externí odkaz:
https://doaj.org/article/b9b4115644d042e48c4c9ee5abfdfe34
Autor:
Carla S. D'Angelo, Azure Hermes, Christopher R. McMaster, Elissa Prichep, Étienne Richer, Francois H. van der Westhuizen, Gabriela M. Repetto, Gong Mengchun, Helen Malherbe, Juergen K. V. Reichardt, Laura Arbour, Maui Hudson, Kelly du Plessis, Melissa Haendel, Phillip Wilcox, Sally Ann Lynch, Shamir Rind, Simon Easteal, Xavier Estivill, Yarlalu Thomas, Gareth Baynam
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequ
Externí odkaz:
https://doaj.org/article/fd0e65b495e942c6b66615fabcd72740
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 6, Pp 1861-1873 (2017)
The SLC25 family member SLC25A38 (Hem25 in yeast) was recently identified as a mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis. Mutations in the human SLC25A38 gene cause congenital sideroblastic anemia
Externí odkaz:
https://doaj.org/article/b9969defd6254b29b42d26380b3ac134
Publikováno v:
Journal of Lipid Research, Vol 57, Iss 10, Pp 1789-1805 (2016)
Membrane contact sites (MCSs) are regions of close apposition between different organelles that contribute to the functional integration of compartmentalized cellular processes. In recent years, we have gained insight into the molecular architecture
Externí odkaz:
https://doaj.org/article/0acb7b2f308045f89710ae91f1bca25d
Autor:
Carlos R. Morales, Lubov S. Grigoryeva, Xuefang Pan, Luigi Bruno, Gilles Hickson, Michael H. Ngo, Christopher R. McMaster, Mark E. Samuels, Alexey V. Pshezhetsky
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 407-411 (2014)
Heterozygous mutations in the UBIAD1 gene cause Schnyder corneal dystrophy characterized by abnormal cholesterol and phospholipid deposits in the cornea. Ubiad1 protein was recently identified as Golgi prenyltransferase responsible for biosynthesis o
Externí odkaz:
https://doaj.org/article/cfd9cf3fbd0747f3aa66e5d116e39e7b
Publikováno v:
Biological Research, Vol 35, Iss 2, Pp 223-229 (2002)
Apoptosis is a means by which organisms dispose of unwanted cells without inducing an inflammatory response. Alterations in apoptosis is a common process by which cells become cancerous. Paradoxically, many cancer chemotherapeutics preferentially kil
Externí odkaz:
https://doaj.org/article/987107b292744c2aae235c7c6dfb280c
Autor:
Holly Longstaff, Jaime Flamenbaum, Etienne Richer, Jeanne Egar, Christopher R. McMaster, Ma’n H. Zawati
Publikováno v:
Canadian Medical Association Journal. 194:E1623-E1632