The Experts below are selected from a list of 28644 Experts worldwide ranked by ideXlab platform
Roy A Gravel - One of the best experts on this subject based on the ideXlab platform.
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genetic disorders of vitamin b12 metabolism eight complementation groups eight genes
Expert Reviews in Molecular Medicine, 2010Co-Authors: Sean D Froese, Roy A GravelAbstract:Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic Diseases of vitamin B12 utilisation constitute an important fraction of inherited Newborn Disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular compartments of the cell. Through the study of inherited disorders of vitamin B12 utilisation, the genes for eight complementation groups have been identified, leading to the determination of the general structure of vitamin B12 processing and providing methods for carrier testing, prenatal diagnosis and approaches to treatment.
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genetic disorders of vitamin b metabolism eight complementation groups eight genes
Expert Reviews in Molecular Medicine, 2010Co-Authors: Sean D Froese, Roy A GravelAbstract:Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic Diseases of vitamin B12 utilisation constitute an important fraction of inherited Newborn Disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular compartments of the cell. Through the study of inherited disorders of vitamin B12 utilisation, the genes for eight complementation groups have been identified, leading to the determination of the general structure of vitamin B12 processing and providing methods for carrier testing, prenatal diagnosis and approaches to treatment.
Sean D Froese - One of the best experts on this subject based on the ideXlab platform.
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genetic disorders of vitamin b12 metabolism eight complementation groups eight genes
Expert Reviews in Molecular Medicine, 2010Co-Authors: Sean D Froese, Roy A GravelAbstract:Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic Diseases of vitamin B12 utilisation constitute an important fraction of inherited Newborn Disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular compartments of the cell. Through the study of inherited disorders of vitamin B12 utilisation, the genes for eight complementation groups have been identified, leading to the determination of the general structure of vitamin B12 processing and providing methods for carrier testing, prenatal diagnosis and approaches to treatment.
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genetic disorders of vitamin b metabolism eight complementation groups eight genes
Expert Reviews in Molecular Medicine, 2010Co-Authors: Sean D Froese, Roy A GravelAbstract:Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic Diseases of vitamin B12 utilisation constitute an important fraction of inherited Newborn Disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular compartments of the cell. Through the study of inherited disorders of vitamin B12 utilisation, the genes for eight complementation groups have been identified, leading to the determination of the general structure of vitamin B12 processing and providing methods for carrier testing, prenatal diagnosis and approaches to treatment.
Ola Didrik Saugstad - One of the best experts on this subject based on the ideXlab platform.
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oxygen radical Disease in the Newborn revisited oxidative stress and Disease in the Newborn period
Free Radical Biology and Medicine, 2019Co-Authors: Marta Perez, Mary Robbins, Cecilie Revhaug, Ola Didrik SaugstadAbstract:Thirty years ago, there was an emerging appreciation for the significance of oxidative stress in Newborn Disease. This prompted a renewed interest in the impact of oxygen therapy for the Newborn in the delivery room and beyond, especially in premature infants. Today, the complexity of oxidative stress both in normal regulation and pathology is better understood, especially as it relates to neonatal mitochondrial oxidative stress responses to hyperoxia. Mitochondria are recipients of oxidative damage and have a propensity for oxidative self-injury that has been implicated in the pathogenesis of neonatal lung Diseases. Similarly, both intrauterine growth restriction (IUGR) and macrosomia are associated with mitochondrial dysfunction and oxidative stress. Additionally, reoxygenation with 100% O2 in a hypoxic-ischemic Newborn lamb model increased the production of pro-inflammatory cytokines in the brain. Moreover, the interplay between inflammation and oxidative stress in the Newborn is better understood because of animal studies. Transcriptomic analyses have found a number of genes to be differentially expressed in murine models of bronchopulmonary dysplasia (BPD). Epigenetic changes have also been detected both in animal models of BPD and premature infants exposed to oxygen. Antioxidant therapy to prevent Newborn Disease has not been very successful; however, new therapeutic principles, like melatonin, are under investigation.
Suresh B Boppana - One of the best experts on this subject based on the ideXlab platform.
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genotypic diversity and mixed infection in Newborn Disease and hearing loss in congenital cytomegalovirus infection
Pediatric Infectious Disease Journal, 2013Co-Authors: Sunil Pati, Swetha G Pinninti, Zdenek Novak, Nazma Chowdhury, Raj Kumar Patro, Karen B Fowler, Shannon A Ross, Suresh B BoppanaAbstract:Background Congenital cytomegalovirus (cCMV) is a common congenital infection and a leading non-genetic cause of sensorineural hearing loss (SNHL). CMV exhibits extensive genetic variability and infection with multiple CMV strains (mixed infection) was shown to be common in cCMV. The role of mixed infections in Disease and outcome remains to be defined.
Marta Perez - One of the best experts on this subject based on the ideXlab platform.
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oxygen radical Disease in the Newborn revisited oxidative stress and Disease in the Newborn period
Free Radical Biology and Medicine, 2019Co-Authors: Marta Perez, Mary Robbins, Cecilie Revhaug, Ola Didrik SaugstadAbstract:Thirty years ago, there was an emerging appreciation for the significance of oxidative stress in Newborn Disease. This prompted a renewed interest in the impact of oxygen therapy for the Newborn in the delivery room and beyond, especially in premature infants. Today, the complexity of oxidative stress both in normal regulation and pathology is better understood, especially as it relates to neonatal mitochondrial oxidative stress responses to hyperoxia. Mitochondria are recipients of oxidative damage and have a propensity for oxidative self-injury that has been implicated in the pathogenesis of neonatal lung Diseases. Similarly, both intrauterine growth restriction (IUGR) and macrosomia are associated with mitochondrial dysfunction and oxidative stress. Additionally, reoxygenation with 100% O2 in a hypoxic-ischemic Newborn lamb model increased the production of pro-inflammatory cytokines in the brain. Moreover, the interplay between inflammation and oxidative stress in the Newborn is better understood because of animal studies. Transcriptomic analyses have found a number of genes to be differentially expressed in murine models of bronchopulmonary dysplasia (BPD). Epigenetic changes have also been detected both in animal models of BPD and premature infants exposed to oxygen. Antioxidant therapy to prevent Newborn Disease has not been very successful; however, new therapeutic principles, like melatonin, are under investigation.