Search Results - "Lowry, R"
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Emerging roles of microglial cathepsins in neurodegenerative disease
Published in Brain research bulletin (01-05-2018)“…•Alzheimer-specific pathological structures cause adverse microglial activation.•Cathepsins B, D and S regulate microglial neuroimmune responses.•Specific…”
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Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System
Published in The Journal of pediatrics (01-10-2023)“…To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of…”
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USArray Imaging of Continental Crust in the Conterminous United States
Published in Tectonics (Washington, D.C.) (01-12-2017)“…The thickness and bulk composition of continental crust provide important constraints on the evolution and dynamics of continents. Crustal mineralogy and…”
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Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997–2019
Published in American journal of medical genetics. Part A (01-08-2024)“…Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co‐occur more frequently than expected. The anomalies are usually…”
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Disease coding systems for arthrogryposis multiplex congenita
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-09-2019)“…Arthrogryposis multiplex congenita (AMC) encompasses many different conditions, involves many different genes and thus can be very complex. Using historical…”
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Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada
Published in The New England journal of medicine (12-07-2007)“…In 1998, fortification of cereal products with folic acid became mandatory in Canada. The authors assessed the prevalence of neural-tube defects in seven…”
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PI3K/Akt signaling requires spatial compartmentalization in plasma membrane microdomains
Published in Proceedings of the National Academy of Sciences - PNAS (30-08-2011)“…Spatial compartmentalization of signaling pathway components generally defines the specificity and enhances the efficiency of signal transduction. The…”
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Dynamic Visualization of mTORC1 Activity in Living Cells
Published in Cell reports (Cambridge) (17-03-2015)“…The mechanistic target of rapamycin complex 1 (mTORC1) senses diverse signals to regulate cell growth and metabolism. It has become increasingly clear that…”
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Development of MAP4 Kinase Inhibitors as Motor Neuron-Protecting Agents
Published in Cell chemical biology (19-12-2019)“…Disease-causing mutations in many neurodegenerative disorders lead to proteinopathies that trigger endoplasmic reticulum (ER) stress. However, few therapeutic…”
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High-Temperature Properties and Ferroelastic Phase Transitions in Rare-Earth Niobates (LnNbO4)
Published in Journal of the American Ceramic Society (01-10-2014)“…Phase transition and high‐temperature properties of rare‐earth niobates (LnNbO4, where Ln = La, Dy and Y) were studied in situ at high temperatures using…”
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Axenfeld-Rieger syndrome: more than meets the eye
Published in Journal of medical genetics (01-04-2023)“…Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes…”
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Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010
Published in European urology (01-10-2019)“…Hypospadias is a common male birth defect that has shown widespread variation in reported prevalence estimates. Many countries have reported increasing trends…”
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Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Published in American journal of human genetics (06-06-2013)“…Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of…”
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Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding
Published in Birth defects research. A Clinical and molecular teratology (01-12-2010)“…BACKGROUND The population prevalence of multiple congenital contractures, many of which have either arthrogryposis multiplex congenita or amyoplasia congenita,…”
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Triple surveillance: The future for birth defect registries
Published in European journal of medical genetics (01-09-2019)Get full text
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Underestimating the impact of water fluoridation
Published in British dental journal (01-10-2024)Get full text
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Site Disorder as a Predictor for Compositionally Complex 5RE2Zr2O7 Ceramic Phase Stability
Published in Journal of the American Ceramic Society (01-11-2023)“…Phase formation and stability of five component compositionally complex rare earth zirconates (5RE2Zr2O7) were investigated by X‐ray diffraction and electron…”
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Resonant slow fault slip in subduction zones forced by climatic load stress
Published in Nature (17-08-2006)“…Global Positioning System (GPS) measurements at subduction plate boundaries often record fault movements similar to earthquakes but much slower, occurring over…”
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Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children
Published in Journal of inherited metabolic disease (01-03-2022)“…The dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in the DnaJ heat shock protein…”
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Orofacial clefts in California: No decline in Alberta, Canada
Published in American journal of medical genetics. Part A (01-06-2019)Get full text
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