Search Results - "Young, Philip J"
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A Mechanism of Release of Calreticulin from Cells During Apoptosis
Published in Journal of molecular biology (03-09-2010)“…Calreticulin (CRT) is an endoplasmic reticulum (ER) chaperone responsible for glycoprotein folding and Ca2+ homeostasis. CRT also has extracellular functions,…”
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Electronic and Spectroscopic Properties of Avobenzone Derivatives Attached to Mo2 Quadruple Bonds: Suppression of the Photochemical Enol-to-Keto Transformation
Published in Journal of the American Chemical Society (22-04-2015)“…From the reactions between Mo2(T i PB)4, where T i PB is 2,4,6-triisopropylbenzoate, and 2 equiv of the acids 4-formylbenzoic acid, HBzald;…”
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Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
Published in Molecular genetics & genomic medicine (01-01-2018)“…Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no…”
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Monte Carlo simulation of the Spearman-Kaerber TCID50
Published in Journal of clinical bioinformatics (13-02-2012)“…In the biological sciences the TCID50 (median tissue culture infective dose) assay is often used to determine the strength of a virus. When the so-called…”
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Analysis of SMN-neurite granules: Core Cajal body components are absent from SMN-cytoplasmic complexes
Published in Biochemical and biophysical research communications (02-07-2010)“…Childhood spinal muscular atrophy (SMA) is caused by a reduction in survival motor neuron (SMN) protein. SMN is a ubiquitously expressed house keeping protein…”
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Identification of Cytochrome P-450 Isoforms Responsible for cis-Tramadol Metabolism in Human Liver Microsomes
Published in Drug metabolism and disposition (01-08-2001)“…The metabolism of cis -tramadol has been studied in human liver microsomes and in cDNA-expressed human cytochrome P-450 (CYP) isoforms. Human liver microsomes…”
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Social and cultural influences on genetic screening programme acceptability: A mixed‐methods study of the views of adults, carriers, and family members living with thalassemia in the UK
Published in Journal of genetic counseling (01-12-2020)“…As population‐level carrier screening panels for reprogenetic information emerge globally, conditions to be included, and the timing of implementation is…”
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A Direct Interaction between the Survival Motor Neuron Protein and p53 and Its Relationship to Spinal Muscular Atrophy
Published in The Journal of biological chemistry (25-01-2002)“…Mutations in the SMN1(survival motor neuron1) gene cause spinal muscular atrophy (SMA). We now show that SMN protein, the SMN1 gene product, interacts directly…”
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Lysyl tRNA synthetase is required for the translocation of calreticulin to the cell surface in immunogenic death
Published in Cell cycle (Georgetown, Tex.) (01-08-2010)“…In response to immunogenic cell death inducers, calreticulin (CRT) translocates from its orthotopic localization in the lumen of the endoplasmic reticulum (ER)…”
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10
Identification of a tripartite import signal in the Ewing Sarcoma protein (EWS)
Published in Biochemical and biophysical research communications (25-12-2009)“…The Ewing Sarcoma (EWS) protein is a ubiquitously expressed RNA processing factor that localises predominantly to the nucleus. However, the mechanism through…”
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Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families
Published in American journal of medical genetics. Part A (01-02-2017)“…Autosomal recessive conditions are a significant health burden with few treatments. Population carrier screening has been suggested as a means to tackle them…”
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Identification of a self-association domain in the Ewing's sarcoma protein: a novel function for arginine-glycine-glycine rich motifs?
Published in Journal of biochemistry (Tokyo) (01-06-2010)“…The Ewing's sarcoma (EWS) protein is a ubiquitously expressed RNA chaperone. The EWS protein localizes predominantly to the nucleus. Previous reports have…”
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13
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy
Published in The Journal of clinical investigation (01-04-2014)“…The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is…”
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14
Newborn screening for haemophilia: The views of families and adults living with haemophilia in the UK
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01-03-2019)“…Introduction As genomic sequencing become more efficient and cost‐effective, the number of conditions identified through newborn screening globally is set to…”
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The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy
Published in Health expectations : an international journal of public participation in health care and health policy (01-02-2018)“…Purpose Autosomal recessive conditions, while individually rare, are a significant health burden with limited treatment options. Population carrier screening…”
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Newborn screening for spinal muscular atrophy: The views of affected families and adults
Published in American journal of medical genetics. Part A (01-06-2017)“…Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen…”
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Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy
Published in Journal of genetic counseling (01-02-2018)“…Developments in genetics are rapidly changing the capacity and scope of screening practices. However, people with genetic conditions have been…”
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Femtosecond Study of Dimolybdenum Paddlewheel Compounds with Amide/Thioamide Ligands: Symmetry, Electronic Structure, and Charge Distribution in the 1MLCT S1 State
Published in Inorganic chemistry (06-02-2017)“…Four photophysically interesting dimolybdenum paddlewheel compounds are synthesized and characterized: I and II contain amide ligand…”
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Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening
Published in Molecular genetics & genomic medicine (01-05-2019)“…Background Genomic sequencing technologies have made the possibility of population screening for whole panels of genetic disorders more feasible than ever…”
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Minute Virus of Mice NS1 Interacts with the SMN Protein, and They Colocalize in Novel Nuclear Bodies Induced by Parvovirus Infection
Published in Journal of Virology (01-04-2002)“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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