Search Results - "Garry, R"
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Cystic fibrosis genetics: from molecular understanding to clinical application
Published in Nature reviews. Genetics (01-01-2015)“…Key Points Investigation of disease-causing variants such as F508del is resolving the mechanisms underlying cystic fibrosis transmembrane conductance regulator…”
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Modifier genes in Mendelian disorders: the example of cystic fibrosis
Published in Annals of the New York Academy of Sciences (01-12-2010)“…In the past three decades, scientists have had immense success in identifying genes and their variants that contribute to an array of diseases. While the…”
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Superoxide dismutase in redox biology: the roles of superoxide and hydrogen peroxide
Published in Anti-cancer agents in medicinal chemistry (01-05-2011)“…Superoxide dismutases (SOD) are considered to be antioxidant enzymes. This view came about because its substrate, superoxide, is a free radical; in the era of…”
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Ascorbic acid: Chemistry, biology and the treatment of cancer
Published in Biochimica et biophysica acta (01-12-2012)“…Since the discovery of vitamin C, the number of its known biological functions is continually expanding. Both the names ascorbic acid and vitamin C reflect its…”
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Thermodynamic and kinetic considerations for the reaction of semiquinone radicals to form superoxide and hydrogen peroxide
Published in Free radical biology & medicine (15-09-2010)“…The quinone/semiquinone/hydroquinone triad (Q/SQ •−/H 2Q) represents a class of compounds that has great importance in a wide range of biological processes…”
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In Memoriam: Haig H. Kazazian, Jr. (1937–2022)
Published in Human mutation (01-04-2022)Get full text
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An integrated physico-chemical approach for explaining the differential impact of FLASH versus conventional dose rate irradiation on cancer and normal tissue responses
Published in Radiotherapy and oncology (01-10-2019)“…•FLASH radiation dose-rates consume all the local tissue O2 to form reactive organic hydroperoxides.•Fenton type reactions will be limited in normal vs. cancer…”
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Larval Export from Marine Reserves and the Recruitment Benefit for Fish and Fisheries
Published in Current biology (05-06-2012)“…Marine reserves, areas closed to all forms of fishing, continue to be advocated and implemented to supplement fisheries and conserve populations [1–4]…”
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The rate of oxygen utilization by cells
Published in Free radical biology & medicine (01-08-2011)“…The discovery of oxygen is considered by some to be the most important scientific discovery of all time—from both physical–chemical/astrophysics and…”
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Laparoscopic morcellation: an acceptable risk or an Achilles heel?
Published in BJOG : an international journal of obstetrics and gynaecology (01-03-2015)Get full text
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From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations
Published in Molecular biology of the cell (01-02-2016)“…More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological…”
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Treating Specific Variants Causing Cystic Fibrosis
Published in JAMA : the journal of the American Medical Association (05-12-2017)“…Many chronic diseases are caused by abnormal function oil or more proteins. Knowing which proteins and what precipitating factors (eg, toxins, inhibitors,…”
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Moving free radical and redox biology ahead in the next decade(s)
Published in Free radical biology & medicine (01-01-2015)Get full text
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Tumor cells have decreased ability to metabolize H2O2: Implications for pharmacological ascorbate in cancer therapy
Published in Redox biology (01-12-2016)“…Ascorbate (AscH − ) functions as a versatile reducing agent. At pharmacological doses (P-AscH − ; [plasma AscH − ] ≥≈20 mM), achievable through intravenous…”
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Published in Genome medicine (31-12-2019)“…The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established…”
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Published in Nature genetics (01-10-2013)“…Garry Cutting and colleagues report a comprehensive functional and clinical analysis of CFTR variants reported in cystic fibrosis. They determine that 128 of…”
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Coral cover a stronger driver of reef fish trophic biomass than fishing
Published in Ecological applications (01-01-2021)“…An influential paradigm in coral reef ecology is that fishing causes trophic cascades through reef fish assemblages, resulting in reduced herbivory and thus…”
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Metal organic framework-mediated synthesis of highly active and stable Fischer-Tropsch catalysts
Published in Nature communications (05-03-2015)“…Depletion of crude oil resources and environmental concerns have driven a worldwide research on alternative processes for the production of commodity…”
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A wearable potentiometric sensor with integrated salt bridge for sweat chloride measurement
Published in Sensors and actuators. B, Chemical (01-10-2017)“…[Display omitted] •We have developed a wearable potentiometric chloride sweat sensor with integrated salt bridge to minimize equilibration.•We show an accuracy…”
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