phenylalanine hydroxylase


Gene Symbol: phenylalanine hydroxylase
Description: phenylalanine hydroxylase
Alias: PKU, PKU1, phenylalanine-4-hydroxylase, phe-4-monooxygenase, phenylalanine 4-monooxygenase
Species: human

Top Publications

  1. ncbi [Delayed diagnosis of phenylketonuria as the cause of mental retardation in an adolescent]
    R Villaverde
    , Hospital Universitario Virgen de la Arrixaca, El Palmar, Murcia,
    Rev Neurol 25:1911-6. 1997
  2. ncbi The PAH gene, phenylketonuria, and a paradigm shift
    Charles R Scriver
    Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
    Hum Mutat 28:831-45. 2007
  3. ncbi Protein metabolism in adult patients with phenylketonuria
    Margreet van Rijn
    Section of Metabolic Diseases, Department of Pediatrics, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Nutrition 23:445-53. 2007
  4. ncbi A study on Chinese phenylalanine hydroxylase gene restriction site polymorphism
    Y T Zeng
    Laboratory of Medical Genetics, Shanghai Children s Hospital
    Sci Sin B 31:1447-53. 1988
  5. pmc Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria
    H J Vernon
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Mol Genet Metab 100:229-33. 2010
  6. doi Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia
    Mark Sanford
    Wolters Kluwer Health Adis, North Shore, Auckland, New Zealand
    Drugs 69:461-76. 2009
  7. ncbi A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
    H Erlandsen
    The Scripps Research Institute, Department of Molecular Biology and Institute for Childhood and Neglected Diseases, La Jolla, CA 92037, USA
    J Inherit Metab Dis 24:213-30. 2001
  8. ncbi Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria
    Denise M Ney
    Department of Nutritional Sciences, University of Wisconsin, Madison, WI 53706, USA
    J Nutr 138:316-22. 2008
  9. ncbi Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy
    Hyun Jeong Oh
    Department of Biomedical Sciences, National Institute of Health, Seoul 122 701, Republic of Korea
    Mol Genet Metab 86:S124-32. 2005
  10. ncbi Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan
    Sadeq Vallian
    Department of Biology, Faculty of Science, Division of Genetics, Isfahan University, Hezarjerib Street, Iran
    Mutat Res 526:45-52. 2003

Detail Information

Publications338 found, 100 shown here

  1. ncbi [Delayed diagnosis of phenylketonuria as the cause of mental retardation in an adolescent]
    R Villaverde
    , Hospital Universitario Virgen de la Arrixaca, El Palmar, Murcia,
    Rev Neurol 25:1911-6. 1997
    ..On cerebral magnetic resonance changes typical of pheynylketonuria (PKU) were seen...
  2. ncbi The PAH gene, phenylketonuria, and a paradigm shift
    Charles R Scriver
    Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada
    Hum Mutat 28:831-45. 2007
    ..experience introduces L-phenylalanine, and in nature, where mutations (>500 alleles) occur in the phenylalanine hydroxylase gene (PAH) on chromosome 12q23.2 encoding the L-phenylalanine hydroxylase enzyme (EC
  3. ncbi Protein metabolism in adult patients with phenylketonuria
    Margreet van Rijn
    Section of Metabolic Diseases, Department of Pediatrics, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    Nutrition 23:445-53. 2007
    Protein intake recommendations in phenylketonuria (PKU) are frequently the subject of discussion. For healthy adults, the recommended daily allowance (RDA) is 0.8
  4. ncbi A study on Chinese phenylalanine hydroxylase gene restriction site polymorphism
    Y T Zeng
    Laboratory of Medical Genetics, Shanghai Children s Hospital
    Sci Sin B 31:1447-53. 1988
    Human phenylalanine hydroxylase (PAH) cDNA was applied as a hybridization probe to analyzing the following 8 restriction fragment length polymorphisms (RFLP) in the PAH genes of 80 normal and 28 phenylketonuric Chinese patients: BglII, 3...
  5. pmc Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria
    H J Vernon
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Mol Genet Metab 100:229-33. 2010
    Sapropterin dihydrochloride, a synthetic, stable form of the tetrahydrobiopterin cofactor of phenylalanine hydroxylase, has been shown to reduce plasma phenylalanine (Phe) levels in a significant portion of patients with phenylketonuria (..
  6. doi Sapropterin: a review of its use in the treatment of primary hyperphenylalaninaemia
    Mark Sanford
    Wolters Kluwer Health Adis, North Shore, Auckland, New Zealand
    Drugs 69:461-76. 2009
    ..synthetic formulation of the active 6R-isomer of tetrahydrobiopterin, a naturally occurring cofactor for phenylalanine hydroxylase. In the EU, sapropterin is approved for the treatment of hyperphenylalaninaemia in patients >or=4 ..
  7. ncbi A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
    H Erlandsen
    The Scripps Research Institute, Department of Molecular Biology and Institute for Childhood and Neglected Diseases, La Jolla, CA 92037, USA
    J Inherit Metab Dis 24:213-30. 2001
    Deficiencies in the human enzyme phenylalanine hydroxylase (PAH) due to mutations in the PAH gene (PAH) result in the inborn error of metabolism phenylketonuria (PKU)...
  8. ncbi Dietary glycomacropeptide supports growth and reduces the concentrations of phenylalanine in plasma and brain in a murine model of phenylketonuria
    Denise M Ney
    Department of Nutritional Sciences, University of Wisconsin, Madison, WI 53706, USA
    J Nutr 138:316-22. 2008
    Phenylketonuria (PKU) is a genetic disorder caused by deficiency of phenylalanine hydroxylase (PAH) that requires life-long adherence to a low-phenylalanine (Phe) diet...
  9. ncbi Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy
    Hyun Jeong Oh
    Department of Biomedical Sciences, National Institute of Health, Seoul 122 701, Republic of Korea
    Mol Genet Metab 86:S124-32. 2005
    Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency...
  10. ncbi Phenylketonuria in Iranian population: a study in institutions for mentally retarded in Isfahan
    Sadeq Vallian
    Department of Biology, Faculty of Science, Division of Genetics, Isfahan University, Hezarjerib Street, Iran
    Mutat Res 526:45-52. 2003
    b>Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene (12q22-q24) resulting in a primary deficiency of the PAH enzyme activity, intolerance to the dietary intake of phenylalanine (Phe) and production of the ..
  11. pmc Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria
    Sung Chul Jung
    Department of Biochemistry, School of Medicine, Ewha Womans University, Seoul, Korea
    J Korean Med Sci 23:877-83. 2008
    Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH)...
  12. ncbi [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria]
    Fang Song
    Department of Genetics, Capital Institute of Pediatrics, Beijing 100020, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 25:142-4. 2003
    To study the molecular basis of the phenylalanine hydroxylase (PAH) gene mutation in Chinese patients with phenylketonuria (PKU).
  13. doi [Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China]
    Li Song
    Pediatric Research Institute, Tianjin Children s Hospital, Tianjin, 300074 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:7-12. 2010
    To investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Tianjin and surrounding area, in order to provide basic information for genetic counseling and prenatal ..
  14. ncbi Molecular characterization of phenylketonuria in Japanese patients
    Y Okano
    Department of Pediatrics, Osaka City University Medical School, Japan
    Hum Genet 103:613-8. 1998
    We characterized phenylalanine hydroxylase (PAH) genotypes of Japanese patients with phenylketonuria (PKU) and hyperphenylalaninemia (HPA)...
  15. ncbi Response of patients with phenylketonuria in the US to tetrahydrobiopterin
    Reuben Matalon
    Department Pediatrics, University of Texas Medical Branch, Galveston TX, USA
    Mol Genet Metab 86:S17-21. 2005
    ..To determine the incidence of BH4 responding PKU patients in the United States and characterize their phenylalanine hydroxylase (PAH) mutations, a study was undertaken at UTMB in Galveston and the Children's Hospital of Los Angeles ..
  16. doi New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Florian B Lagler
    Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, 6020 Innsbruck, Austria
    Biochem Pharmacol 80:1563-71. 2010
    Phenylketonuria (PKU), an autosomal recessive disease with phenylalanine hydroxylase (PAH) deficiency, was recently shown to be a protein misfolding disease with loss-of-function...
  17. ncbi [The maternal phenylketonuria syndrom--still current problem]
    Bozena Didycz
    Klinika Chorób Dzieci Katedry Pediatrii, Uniwersytet Jagielloński Collegium Medium w Krakowie
    Przegl Lek 66:4-10. 2009
    ..Being untreated or insufficiently treated phenylketonuria (PKU) sometimes leads to irreversible damage of mielin...
  18. pmc Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice
    Cary O Harding
    Oregon Health and Science University, Portland, OR 97239 2998, USA
    J Gene Med 5:984-93. 2003
    ..Our specific hypothesis was that phenylalanine hydroxylase (PAH) expressed in bone marrow would lower blood phenylalanine levels in hyperphenylalaninemic Pah(enu2) ..
  19. ncbi In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Yoshiyuki Okano
    Department of Pediatrics, Osaka City University Graduate School of Medicine, 1 4 3 Asahimachi, Abeno Ku, Osaka 545 8585, Japan
    Pediatr Res 56:714-9. 2004
    Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is characterized by reduction of blood phenylalanine level after a BH4-loading test...
  20. ncbi Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art
    Leo J M Spaapen
    Department of Biochemical Genetics, Academic Hospital, Maastricht, The Netherlands
    Mol Genet Metab 78:93-9. 2003
    Since 1999 an increasing number of patients with phenylalanine hydroxylase (PAH) deficiency are reported to be able to decrease their plasma phenylalanine (Phe) concentrations after a 6R-tetrahydrobiopterin (BH(4)) challenge...
  21. pmc Phenylalanine hydroxylase (PAH) from the lower eukaryote Leishmania major
    Lon Fye Lye
    Department of Molecular Microbiology, Box 8230, Washington University Medicine School, 600 S Euclid Ave, St Louis, MO 63110, USA
    Mol Biochem Parasitol 175:58-67. 2011
    ..Here we explored the consequences of genetic manipulation of the sole L. major phenylalanine hydroxylase (PAH) to explore whether it could account for the Leishmania H(4)B requirement. L...
  22. doi Phenylalanine hydroxylase activity and expression in chicks subjected to phenylalanine imbalance or phenylalanine toxicity
    F M Lartey
    Department of Animal Science, Cornell University, Ithaca, NY 14853, USA
    Poult Sci 88:774-83. 2009
    ..The increased activity does not involve changes in PAH mRNA. The effects of IAA - Phe on plasma Phe concentrations appear to be independent of hepatic PAH activity as measured in vitro...
  23. ncbi Detection of Heterozygous Carriers of PKU in Egypt: Successful Application of a Simple Biochemical Method
    Ebtesam M Abdalla
    Human Genetics Department, Medical Research Institute, University of Alexandria
    J Egypt Public Health Assoc 83:239-54. 2008
    ..together with the difficulty of the molecular testing due to the large number of mutations in the phenylalanine hydroxylase (PAH) gene has resulted in continued effort to develop an accurate procedure to discriminate the ..
  24. doi Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)
    Barbara K Burton
    Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60614, USA
    Mol Genet Metab 101:110-4. 2010
    ..correlated with IQ and is a better predictor of IQ in early and continuously treated patients with phenylketonuria (PKU) than mean blood phenylalanine levels...
  25. ncbi The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings
    F Rohr
    Children s Hospital, Boston, Massachusetts 02115, USA
    J Inherit Metab Dis 27:145-55. 2004
    Women with phenylketonuria (PKU) must follow a strict low-phenylalanine diet during pregnancy in order to protect the fetus from the deleterious effects of high maternal blood phenylalanine...
  26. ncbi The impact of phenylketonuria on folate metabolism
    Mark Lucock
    Academic Unit of Paediatrics and Obstetrics and Gynaecology, D Floor, Clarendon Wing, Leeds General Infirmary, University of Leeds, West Yorkshire LS2 9NS, UK
    Mol Genet Metab 76:305-12. 2002
    Several reports indicate that biopterin and folate pathways may interact. We examined folate metabolism in PKU patients where hyperphenylalaninaemia leads to a likely excess of THB...
  27. pmc Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations
    J R Kidd
    Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
    Am J Hum Genet 66:1882-99. 2000
    Because defects in the phenylalanine hydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymorphisms and linkage disequilibrium soon after the gene was cloned...
  28. pmc Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system
    Zhaobing Ding
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Zurich, Switzerland
    Mol Ther 16:673-81. 2008
    Phenylketonuria (PKU) caused by phenylalanine hydroxylase (PAH) deficiency leads to toxic accumulation of phenylalanine (Phe)...
  29. ncbi Sequence and expression of the Drosophila phenylalanine hydroxylase mRNA
    G Morales
    Centro de Biologia Molecular CSIC UAM, Universidad Autonoma de Madrid, Spain
    Gene 93:213-9. 1990
    We report the cloning, nucleotide (nt) sequence and expression of the cDNA (pah) encoding phenylalanine hydroxylase (PAH) of Drosophila melanogaster. The strong hybridization signals observed in genomic blots when D...
  30. ncbi Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Marcel R Zurflüh
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 29:167-75. 2008
    Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU)...
  31. ncbi [Comparison of genotype and intellectual phenotype in untreated phenylketonuric children]
    L Yuan
    Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, 100005 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 15:297-9. 1998
    ..Although classical PKU is defined as that the hepatic phenylalanine hydroxylase (PAH) activity ranges 0-1% of normal enzyme, the untreated PKU patients show a wide range of ..
  32. ncbi Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation
    L Zagreda
    Center for Developmental Cognitive Neuroscience, Eunice Kennedy Shriver Center, Waltham, Massachusetts 02452, USA
    J Neurosci 19:6175-82. 1999
    b>Phenylalanine hydroxylase (Pah)-deficient "PKU mice" have a mutation in the Pah gene that causes phenylketonuria (PKU) in humans. PKU produces cognitive deficits in humans if it is untreated...
  33. doi Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control
    M Lindner
    Division of Metabolic Disorders, Department of General Paediatrics, University Children s Hospital, Heidelberg, Germany
    J Inherit Metab Dis 32:514-22. 2009
    ..BH(4)) cofactor loading is a standard procedure to differentiate defects of BH(4) metabolism from phenylalanine hydroxylase (PAH) deficiency...
  34. doi Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation
    Jytte Bieber Nielsen
    Center for PKU, The Kennedy Center, Glostrup, Denmark
    J Inherit Metab Dis 33:9-16. 2010
    ..metabolic disease characterized by phenylalanine (Phe) accumulation due to defects in the enzyme phenylalanine hydroxylase (PAH). Phe accumulation can lead to cognitive impairment...
  35. ncbi Behaviour and school achievement in patients with early and continuously treated phenylketonuria
    B A Stemerdink
    Department of Developmental, State University Groningen, The Netherlands
    J Inherit Metab Dis 23:548-62. 2000
    Thirty patients with early and continuously treated phenylketonuria (PKU) between 8 and 20 years of age were compared with 30 controls, matched individually for age, sex, and educational level of both parents, on behaviour rating scales ..
  36. ncbi Clinical analysis of West syndrome associated with phenylketonuria
    Z Zhongshu
    Pediatric Department, China Japan Friendship Hospital, Ying Hua Dong Lu 1, He Ping Li, Beijing 100029, People s Republic of China
    Brain Dev 23:552-7. 2001
    To explore the incidence and clinical characteristics of West syndrome associated with phenylketonuria (WS-PKU) and significance of early combination therapy of low phenylalanine (PHE) diet and anticonvulsants (antiepileptic drugs, AEDs) ..
  37. ncbi Metabolic basis of sexual dimorphism in PKU mice after genome-targeted PAH gene therapy
    Li Chen
    Department of Gene and Cell Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA
    Mol Ther 15:1079-85. 2007 targeted insertion of transgenes into mammalian genomes, and its use in the delivery of murine phenylalanine hydroxylase (PAH) complementary DNA (cDNA) into the hepatocytes of male phenylketonuria (PKU) mice, leading to a ..
  38. ncbi Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study
    S E Waisbren
    Genetic Service, Children s Hospital, Boston, Mass 02115, USA
    JAMA 283:756-62. 2000
    Untreated maternal phenylketonuria (PKU) increases risk for developmental problems in offspring. The extent to which this risk is reduced by maternal dietary therapy at various stages of pregnancy is not known.
  39. ncbi Intake and blood levels of fatty acids in treated patients with phenylketonuria
    P B Acosta
    Medical Department, Ross Products Division, Abbott Laboratories, Columbus, Ohio 43215 1724, USA
    J Pediatr Gastroenterol Nutr 33:253-9. 2001
    Investigators in Italy and Spain have suggested that therapy for patients with phenylketonuria (PKU) may result in essential fatty acid (EFA) deficiency...
  40. ncbi Normal infant by a gestational carrier for a phenylketonuria mother: alternative therapy
    Robert O Fisch
    Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA
    Mol Genet Metab 82:83-6. 2004
    The consequences of pregnancies in untreated phenylketonuria (PKU) mothers are a high incidence of spontaneous abortion, intrauterine growth retardation with microcephaly, congenital malformations, and abnormal intellectual development...
  41. ncbi Plasma phenylalanine concentrations are associated with hepatic iron content in a murine model for phenylketonuria
    Sareen S Gropper
    Department of Nutrition and Food Science, 328 Spidle Hall, Auburn University, Auburn, AL 36849, USA
    Mol Genet Metab 82:76-82. 2004
    Individuals with phenylketonuria (PKU) have been reported to have altered trace mineral status...
  42. ncbi 1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU)
    Paul E Sijens
    Department of Radiology, University Hospital Groningen, Hanzeplein 1, P O Box 30001, Groningen, The Netherlands
    Eur Radiol 14:1895-900. 2004
    ..voxel methods were used in previous MR spectroscopy studies of phenylalanine (Phe) levels in phenylketonuria (PKU) patients. In this study, apparent T2 relaxation time of the 7...
  43. ncbi Response of phenylketonuria to tetrahydrobiopterin
    Kimberlee Michals-Matalon
    Department of Health and Human Performance, University of Houston, Houston, TX 77204, USA
    J Nutr 137:1564S-1567S; discussion 1573S-1575S. 2007
    A favorable response, indicated by decline of blood phenylalanine (Phe) in patients with phenylketonuria (PKU), to orally administered 6-R-L-erythro-5, 6, 7, 8-tetrahydrobiopterin (BH4) has been reported in many countries following the ..
  44. ncbi Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?
    Peter J Anderson
    Critical Care and Neurosciences, Murdoch Childrens Research Institute, Melbourne, Australia
    Dev Neuropsychol 32:645-68. 2007 enhance our understanding of neuropsychological functioning in children with early-treated phenylketonuria (PKU) and assess the relative impact of white matter abnormalities (WMA) and neurotransmitter deficiencies on cognitive ..
  45. ncbi Screening programme for phenylketonuria in the Gaza Strip: evaluation and recommendations
    Abdel Nasser K Abu Shahla
    Biology Department, Al Azhar University, Gaza, Palestine
    J Trop Pediatr 50:101-5; discussion 106. 2004
    Phenylketonruia (PKU) is an inherited metabolic disorder that results in progressive mental retardation...
  46. ncbi Polycyclic aromatic hydrocarbons in the South American environment
    Ricardo Barra
    Aquatic Systems Research Unit, EULA Chile Environmental Sciences Center, Barrio Universitario s n, University of Concepcion, P O Box 160 C, Concepcion, Chile
    Rev Environ Contam Toxicol 191:1-22. 2007
    ..In these countries, this type of analysis needs to be performed, and the laboratory capacity needs to be built to assure the accomplishment of these objectives...
  47. ncbi Purification to homogeneity of the major "4S" PAH binding protein from "non responsive" DBA/2N mouse liver by affinity chromatography
    M T Masucci
    Institute of General Pathology and Oncology, I Medical School, University of Naples, Italy
    Tumori 75:202-10. 1989
    ..On electrophoresis in SDS gels, the purified protein migrated as a single protein band with an apparent molecular weight of 40,000...
  48. ncbi [Polar neutral organic compounds (POCN) in city aerosols. 2. Measuring of emissions from domestic fuel and vehicle exhaust and from immission particles in Berlin (West)]
    H J Moriske

    Zentralbl Bakteriol Mikrobiol Hyg B 185:72-104. 1987
    ..So, for coal firing emissions, higher concentrations for phenanthrene, benzo(a)-pyrene and dibenz(a.h)anthracene (for PAH) and 9-fluorenone (for POCN) were gained.(ABSTRACT TRUNCATED AT 400 WORDS)..
  49. ncbi "4S" polycyclic aromatic hydrocarbon binding protein. Its role as a benzo(a) pyrene cytosolic carrier to the microsomes of DBA/2N mouse liver
    M T Masucci
    Institute of General Pathology, Ist Medical School, University of Naples, Italy
    Tumori 75:211-6. 1989
    ..Thus, this protein is able to transfer benzo(a)pyrene to the microsomal metabolization sites and to facilitate the release of oxidized products and, presumably, bind them...
  50. ncbi [Prevention by L-dopa of early renal consequences of diabetes induced by streptozocin in rats]
    B Vailly
    Institut de Pharmacologie (URA DO 589 CNRS, , CHRU, Strasbourg
    Arch Mal Coeur Vaiss 83:1259-62. 1990
    ..3 +/- 0.07, n = 14, versus 0.93 +/- 0.05 ml/min.g kidney weight in non-diabetic controls, p less than 0.001) and an increase in filtration fraction (52.4 +/- 5.1 versus 32.1 +/- 1.7%, p less than 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)..
  51. ncbi Effects of oral calcium, potassium, digoxin, and nifedipine on natriuresis in normal humans
    F C Luft
    Department of Medicine, Indiana University School of Medicine, Indianapolis
    Am J Hypertens 2:14-9. 1989
    ..Nifedipine may also uncouple renin from aldosterone. Oral calcium supplementation and sodium-potassium dependent ATPase inhibition did not facilitate natriuresis...
  52. ncbi Polycyclic aromatic hydrocarbons in edible fats and oils: occurrence and analytical methods
    S Moret
    Department of Food Science, University of Udine, Italy
    J Chromatogr A 882:245-53. 2000
  53. pmc Influence of vegetation on the in situ bacterial community and polycyclic aromatic hydrocarbon (PAH) degraders in aged PAH-contaminated or thermal-desorption-treated soil
    Aurélie Cébron
    Faculte des Sciences, LIMOS, Nancy Universite, CNRS UMR 7137, 54506 Vandoeuvre les Nancy Cedex, France
    Appl Environ Microbiol 75:6322-30. 2009
    ..The GP PAH-RHD(alpha) bacterial gene proportion decreased in the NM-BS plots but stayed constant or increased under vegetation influence (NM-SV, NM-Ms, and TD-Ms)...
  54. ncbi Static subcritical water extraction with simultaneous solid-phase extraction for determining polycyclic aromatic hydrocarbons on environmental solids
    S B Hawthorne
    Energy and Environmental Research Center, University of North Dakota, Grand Forks 58202, USA
    J Chromatogr A 886:237-44. 2000
    ..The method gives good quantitative agreement with standard Soxhlet extraction, and with certified reference materials for PAH concentrations on soil, sediment (SRM 1944), and air particulate matter (SRM 1649a)...
  55. ncbi Renal functional effects of prostaglandin synthesis inhibition in patients with insulin-dependent diabetes mellitus of long duration without nephropathy
    T Linne
    Department of Pediatrics, Karolinska Institute, St Goran s Hospital, Stockholm, Sweden
    Horm Metab Res 23:383-6. 1991
    ..14.5 +/- 10.6 and 12.9 +/- 8.3 in controls). We conclude that the hyperfiltration in this stage of IDDM does not appear to be PG dependent, and that PGSI does not give any immediate effects on the albumin excretion...
  56. ncbi [Polar neutral organic compounds (POCN) in city aerosols. 3. Comparative studies of emission and immission particles in West Berlin]
    H J Moriske

    Zentralbl Bakteriol Mikrobiol Hyg B 185:452-68. 1988
    ..The concentration of the nitro-groups containing substances (included in the POCN-fraction) amounted here generally to higher values in comparison with the vehicle emissions (except of 1-nitropyrene).(ABSTRACT TRUNCATED AT 400 WORDS)..
  57. doi Genotoxic potential of Polycyclic Aromatic Hydrocarbons-coated onto airborne Particulate Matter (PM 2.5) in human lung epithelial A549 cells
    Sylvain Billet
    LCE EA 2598, Toxicologie Industrielle et Environnementale, Universite du Littoral Cote d Opale, Maison de la Recherche en Environnement Industriel de Dunkerque 2, 189A, Avenue Maurice Schumann, 59140 Dunkerque, France
    Cancer Lett 270:144-55. 2008
    ..We also concluded that, in the human lung epithelial cell model we used, and in the experimental conditions we chose, bulky-DNA adduct formation was apparently not a major factor involved in the Dunkerque City's PM 2.5-induced toxicity...
  58. ncbi [The role of glucocorticoids in the cardiovascular adaptation to sodium restriction in the rat]
    J P Grunfeld
    INSERM Unité 90, Hopital Necker, Paris
    Arch Mal Coeur Vaiss 80:822-5. 1987
    ..In conclusion, endogenous Gs contribute to blood pressure control in salt-restricted rats, possibly by increasing vascular reactivity to catecholamines and angiotensin...
  59. ncbi Endothelin receptor antagonists for pulmonary arterial hypertension
    C Liu
    Monash University, Australasian Cochrane Centre, Locked Bag 29, Clayton, Victoria, Australia 3168
    Cochrane Database Syst Rev . 2006
    ..PAH can also be secondary to chronic hypoxic lung disease as part of the "cor-pulmonale" syndrome, and also secondary to left sided heart disease, but these conditions are usually distinguished from those listed here...
  60. doi Biodegradation aspects of polycyclic aromatic hydrocarbons (PAHs): a review
    A K Haritash
    Department of Environmental Science and Engineering, Guru Jambheshwar University of Science and Technology, Hisar, Haryana, India
    J Hazard Mater 169:1-15. 2009
    ..An integrated approach of physical, chemical, and biological degradation may be adopted to get synergistically enhanced removal rates and to treat/remediate the contaminated sites in an ecologically favorable process...
  61. ncbi [Renal function during stress in hypertensive patients]
    J P Fauvel
    , , Lyon
    Arch Mal Coeur Vaiss 84:1195-9. 1991
    ..In the long-term, the increased sodium resorption during stress could contribute to the development and the persistence of essential hypertension...
  62. ncbi [Effects of diltiazem on arterial pressure and renal function in renal transplanted and cyclosporin A treated subjects. Results after 3 months of a prospective study]
    C Guerin
    , , CHU de Saint-Etienne, Saint-Priest en Jarez, France
    Arch Mal Coeur Vaiss 82:1223-7. 1989
    ..73 m2; at 3 months 13/14 (93 p. 100) vs 12/15 (80 p. 100) of the grafts are functioning (NS), GFR (34 +/- 17 vs 33 +/- 10) and ERBF (242 +/- 90 vs 236 +/- 117) are not different.(ABSTRACT TRUNCATED AT 250 WORDS)..
  63. ncbi [Effect of cyclosporin A on blood pressure and renal hemodynamics in insulin dependent diabetes]
    T Hannedouche
    , , Paris
    Arch Mal Coeur Vaiss 81:221-3. 1988
  64. ncbi DNA adduct formation in mammalian cell cultures by polycyclic aromatic hydrocarbons (PAH) and nitro-PAH in coke oven emission extract
    J Topinka
    Laboratory of Genetic Ecotoxicology, Regional Institute of Hygiene of Central Bohemia and Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Videnska 1083, 142 20, Prague 4, Czech Republic
    Mutat Res 419:91-105. 1998
    ..Using DNA adduct analysis in rat hepatocytes (+/-pretreatment with TCDD) and in NCI-H322 and in V79NH cells offers a promising approach to determine the genotoxic activity of PAH and nitro-PAH in any complex environmental samples...
  65. ncbi Mutagenicity and contents of polycyclic aromatic hydrocarbons in used and recycled motor oils
    E Clonfero
    Istituto di Medicina del Lavoro della Università di Padova, Italy
    Mutat Res 368:283-91. 1996
  66. ncbi Evidence-based pharmacologic management of pulmonary arterial hypertension
    Neal Benedict
    Department of Pharmacy and Therapeutics, University of Pittsburgh School of Pharmacy, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA
    Clin Ther 29:2134-53. 2007
    ..Pulmonary arterial hypertension (PAH) is a debilitating chronic disorder of the pulmonary vasculature characterized by elevated mean pulmonary arterial pressure, right-sided heart failure, and early mortality...
  67. ncbi Novel approach to the analysis and use of fullerenes in capillary electrophoresis
    J M Treubig
    Department of Chemistry, University of Rhode Island, Kingston 02881, USA
    J Chromatogr A 873:257-67. 2000
    ..The preliminary results using C60-MEKC with SDS were compared to those obtained with MEKC with SDS. The capillary electrophoretic separations were performed in 10 mM borate-phosphate buffer with 100 mM SDS at pH 9.5...
  68. ncbi PAH metabolites in bile fluids of dab (Limanda limanda) and flounder (Platichthys flesus): spatial distribution and seasonal changes
    Ulrike Kammann
    Federal Research Centre for Fisheries, Institute for Fishery Ecology, Palmaille 9, 22767 Hamburg, Germany
    Environ Sci Pollut Res Int 14:102-8. 2007
  69. ncbi [Nitrated polycyclic aromatic hydrocarbons (nitro-PAH) in suspended particles in the atmosphere. 1. Fractionation and analytic detection]
    H Schleibinger

    Zentralbl Bakteriol Mikrobiol Hyg B 187:44-55. 1988
    ..Thus, depending on the preconcentration factor (up to 100 m3 per 200 microliter) these compounds could be detected in the range from 0.5-5 pg/m3...
  70. ncbi Contraluminal para-aminohippurate (PAH) transport in the proximal tubule of the rat kidney. IV. Specificity: mono- and polysubstituted benzene analogs
    K J Ullrich
    Max Planck Institut fur Biophysik, Frankfurt Main, Federal Republic of Germany
    Pflugers Arch 413:134-46. 1988
    ..The sulfate transporter interacts with molecules which have neighbouring electronegative charge accumulation...
  71. ncbi Comparison between photo-induction and microsomal activation of polycyclic hydrocarbons with different oncogenic potency
    G Prodi
    Centro di Cancerogenesi Chimica, Istituto di Cancerologia, , Italy
    Toxicol Pathol 12:185-8. 1984
    ..Therefore, a certain degree of correlation between the extent of DNA binding and oncogenic potency of the chemicals seemed to exist. Polynucleotide labeling was always higher than DNA labeling...
  72. ncbi Accelerated versus slowly progressive forms of puberty in girls with precocious and early puberty. Gonadotropin suppressive effect and final height obtained with two different analogs
    Roberto Lanes
    Pediatric Endocrine Unit, Hospital de Clinicas Caracas, Caracas, Venezuela
    J Pediatr Endocrinol Metab 17:759-66. 2004
    ..To determine the effect of GnRH analog treatment on the final height of treated patients and compare the effect of two different analogs on gonadotropin suppression and final height...
  73. ncbi Reassessment of the predictive value of the postural stimulation test in primary aldosteronism
    R G Fontes
    San Francisco General Hospital Medical Center, CA
    Am J Hypertens 4:786-91. 1991
    ..Among these false-positive results there were the nine cases of PAH where the hypertension could be ameliorated or cured by partial removal of hyperplastic adrenal tissue.(ABSTRACT TRUNCATED AT 250 WORDS)..
  74. ncbi [Biological monitoring at the work site]
    N Winker
    Allgemeine Unfallversicherungsanstalt, , Wien, Osterreich
    Pneumologie 44:875-9. 1990
    ..In addition, the problems of the test concept to evaluate the effects of exposure to polycyclic aromatic hydrocarbons by means of determining DNA-PAH adducts are discussed...
  75. doi Detection of DNA damage in fish Oreochromis mossambicus induced by co-exposure to phenanthrene and nitrite by ESI-MS/MS
    Solimabi Wahidulla
    Bio Organic Laboratory, Chemical Oceanography Division, National Institute of Oceanography, CSIR, Dona Paula, Goa, 403 004, India
    Environ Sci Pollut Res Int 17:441-52. 2010
  76. ncbi cAMP-dependent negative regulation of rat aldehyde dehydrogenase class 3 gene expression
    G H Xiao
    Department of Biochemistry, School of Medicine, University of Louisville, Louisville, Kentucky 40292, USA
    J Biol Chem 272:3238-45. 1997
  77. doi Concentrations and bioaccessibility of polycyclic aromatic hydrocarbons in wastewater-irrigated soil using in vitro gastrointestinal test
    Sardar Khan
    Department of Soil Environmental Science, Research Center for Eco Environmental Sciences, Chinese Academy of Sciences, Beijing 100085, China
    Environ Sci Pollut Res Int 15:344-53. 2008
    ..This study was conducted to investigate the level of PAH contamination and oral bioaccessibility in surface soils, using physiologically based in vitro gastro-intestinal tests regarding both gastric and small intestinal conditions...
  78. ncbi Diastolic function of the heart in mixed connective tissue disease
    Judit Vegh
    3rd Department of Internal Medicine, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
    Clin Rheumatol 26:176-81. 2007
    ..In the case of MCTD patients complicated with PAH, the signs of the right ventricle function impairment proved to be permanent...
  79. ncbi Mitogen induced proliferative responses of lymphocytes from spot (Leiostomus xanthurus) exposed to polycyclic aromatic hydrocarbon contaminated environments
    M Faisal
    Virginia Institute of Marine Science, School of Marine Science, College of William and Mary, Gloucester Point 23062
    Immunopharmacol Immunotoxicol 13:311-27. 1991
    ..These results suggest that the proliferative responses of fish lymphocytes to mitogens may be a potentially sensitive biomarker of exposure to, and effects of xenobiotics...
  80. ncbi [Influence of acute administration of ramipril on the excretion of uric acid]
    M Labeeuw
    , , CNRS UA 1177, , Lyon
    Arch Mal Coeur Vaiss 80:870-4. 1987
    ..The simultaneous changes in FeAU and in ACE activity indicate that the effect on uric acid excretion is presumably due to the fall in angiotensin concentration...
  81. ncbi Renal artery clipping attenuates the progression of adriamycin nephropathy
    A L Balbi
    Department of Medicine, Botucatu Medical School (UNESP, , Brazil
    Am J Hypertens 11:1124-8. 1998
    ..05 v nonclipped). The data suggest that diminished perfusion pressure of the clipped kidney, by decreasing the intraglomerular pressure, protects the glomerulus from damage and attenuates the evolution of adriamycin nephropathy...
  82. ncbi Distribution of n-alkanes, polynuclear aromatic hydrocarbons and nitrated polynuclear aromatic hydrocarbons between the fine and coarse fractions of inhalable atmospheric particulates
    A Cecinato
    Istituto sull'Inquinamento Atmosferico CNR, Monterotondo Scalo RM, Italy
    J Chromatogr A 846:255-64. 1999
    ..Moreover, nitrated PAHs had varied distributions, according to the origin of their occurrence in the atmosphere; in fact, congeners of photochemical origin accumulated more in fine particles than those released by primary sources...
  83. ncbi Application of solid-phase extraction discs with a glass fiber matrix to fast determination of polycyclic aromatic hydrocarbons in water
    I Urbe
    , Spain
    J Chromatogr A 778:337-45. 1997
    ..They can concentrate volume samples of up to 1 l, with PAH recoveries at the level of 1-2 ng/l higher than 80 +/- 10% and detection limits of between 0.1-2 ng/l, depending on the compound studied...
  84. ncbi Variation in the response of T cells to concanavalin A after in vitro exposure to benzo[A]pyrene and 2-aminofluorene
    M Lee
    Department of Microbiology/Immunology, Morehouse School of Medicine, Atlanta, GA 30310, USA
    Immunopharmacol Immunotoxicol 18:309-21. 1996
    ..Studies with beta NF indicate that this P-450 inducer enhances the anti-proliferative effect of BP, while it abolishes this effect of AF...
  85. ncbi Application of micro-scale sealed vessel thermal desorption-gas chromatography-mass spectrometry for the organic analysis of airborne particulate matter: linearity, reproducibility and quantification
    D Waterman
    Division of Life Sciences, King's College London, UK
    J Chromatogr A 912:143-50. 2001
    ..62 mg kg(-1) (< or = 11%)]. We show linearity for a series of 10 n-alkanes and 10 polycyclic aromatic hydrocarbons (PAHs) in the SRM. The technique is also shown to be quantifiable (PAH concentrations typically 4-6 mg kg(-1))...
  86. pmc Mechanisms of renal tubular defects in old age
    A S Dontas
    Department of Clinical Therapeutics, University of Athens, and Centre of Studies of Age-related Changes in Man, Athens, Greece
    Postgrad Med J 48:295-303. 1972
    ..Finally, it appears that renal infection aggravates the larger glomerular and proximal tubular deficits observed in non-infected men: it depresses distal tubular function equally in both sexes...
  87. ncbi [Hypertension induced by cyclosporin A in insulin-dependent diabetic patients. A one-year follow-up]
    T Hannedouche
    , , Paris
    Arch Mal Coeur Vaiss 83:1347-50. 1990
    ..In conclusion: 1) CyA-induced increase in blood pressure paralleled that in RVR at M3 and decreased sodium excretion at M12. 2) There was a dissociation between MAP and GFR changes after 12 months of treatment with CyA...
  88. ncbi Separation of polycyclic aromatic hydrocarbon metabolites by gamma-cyclodextrin-modified micellar electrokinetic chromatography with laser-induced fluorescence detection
    C J Smith
    Division of Environmental Health Laboratory Sciences, National Center for Environmental Health, US Department of Health and Human Services, Atlanta, GA 30341, USA
    J Chromatogr A 803:241-7. 1998
    ..08-0.5) x 10(-15) mol range. To our knowledge, this is the first report of the separation of metabolic products of PAHs (and several positional isomers) using gamma-CD and micellar electrokinetic chromatography...
  89. ncbi Blood pressure and renal blood flow responses to dietary calcium and sodium intake in humans
    G M Rich
    Endocrinology/Hypertension Division, Brigham and Women's Hospital, Boston, MA 02115
    Am J Hypertens 4:642S-645S. 1991
    ..05 between groups). These data suggest that a low calcium diet may contribute to the phenomenon of salt sensitivity in a white population. The low calcium intake appears to affect both the systemic and renal vasculature...
  90. ncbi Validation of an analytical procedure for polychlorinated biphenyls, coplanar polychlorinated biphenyls and polycyclic aromatic hydrocarbons in environmental samples
    A Jaouen-Madoulet
    IFREMER, Centre de Brest, , , , France
    J Chromatogr A 886:153-73. 2000
    ..This method allows the measurement of these contaminants in biota and sediment at trace levels as low as 1 pg g(-1) for coplanar PCBs with a precision better than 20%...
  91. ncbi Polycyclic aromatic hydrocarbon 13C/12C ratio measurement in petroleum and marine sediments application to standard reference materials and a sediment suspected of contamination from the Erika oil spill
    L Mazeas
    , UPRESA 5472, , Talence, France
    J Chromatogr A 923:165-76. 2001
    ..This analytical procedure has then been successfully applied to confirm the contamination of a sediment by the petroleum product spilled by the Erika tanker after its wreck on 12 December 1999 close to the Atlantic Coast of France...
  92. ncbi Hydrophobic interaction electrokinetic chromatography for the separation of polycyclic aromatic hydrocarbons using non-aqueous matrices
    J T Koch
    Department of Chemistry, Furman University, Greenville, SC 29613-1120 USA
    J Chromatogr A 914:223-31. 2001
    ..Solid-phase microextraction is demonstrated to be an effective sample preparation technique for extraction/preconcentration of PAHs from water into methanol run buffer prior to injection...
  93. ncbi Stability and determination of aflatoxins by high-performance liquid chromatography with amperometric detection
    M P Elizalde-González
    Centro de Quimica, Instituto de Ciencias, Universidad Autónoma de Puebla Apdo, Mexico
    J Chromatogr A 828:439-44. 1998
    ..3 mmol/l, respectively. Sensitivity varied between 7 and 10 ng for the different aflatoxins. The combination of different HPLC detectors in the analysis of these compounds was applied to investigate the stability of aflatoxins G1 and B2...
  94. ncbi Laterally attached liquid crystalline polymers as stationary phases in reversed-phase high-performance liquid chromatography. II. Optimization of the molecular parameter of the polymer
    F Gritti
    , B.P. 108, Talence, France
    J Chromatogr A 897:131-43. 2000
    ..The results show that the combination of a long spacer and long terminal chains, which generates a smectic phase in the polymer bulk, leads to the best chromatographic performances towards planarity and shape recognition for PAH solutes...
  95. ncbi Screening of compost for PAHs and pesticides using static subcritical water extraction
    A E McGowin
    Department of Chemistry, Wright State University, Dayton, OH 45435, USA
    Chemosphere 45:857-64. 2001
    ..6 microg g(-1), were determined to be 9.89, 6.77, and 13.06 microg g(-1) dry weight. The highest PAH totals were obtained from compost containing sewage sludge...
  96. ncbi Characterization of a major aromatic DNA adduct detected in human breast tissues
    Donghui Li
    Department of Gastrointestinal Medical Oncology, University of Texas, M D Anderson Cancer Center, Houston, Texas 77030, USA
    Environ Mol Mutagen 39:193-200. 2002
    ..These results demonstrate that this major bulky DNA adduct detected in human breast tissues is related to PAH exposure...
  97. ncbi Oxidative damage in eelpout (Zoarces viviparus), measured as protein carbonyls and TBARS, as biomarkers
    Bethanie Carney Almroth
    Department of Zoology, Zoophysiology, Goteborg University, Box 463, SE 405 30 Goteborg, Sweden
    Aquat Toxicol 73:171-80. 2005
    ..23+/-0.17 nmol/mg protein. We concluded that TBARS is not an appropriate biomarker for pollutant mediated oxidative damage in eelpout while protein carbonyl formation does appear to be affected by xenobiotic exposure...
  98. ncbi Cytochrome P450 1A activity in liver and fixed wavelength fluorescence detection of polycyclic aromatic hydrocarbons in the bile of tongue-fish (Cynoglossus acrolepidotus, Bleeker) in relation to petroleum hydrocarbons in the eastern Gulf of Thailand
    Voravit Cheevaporn
    Department of Aquatic Science, Faculty of Science, Burapha University, Chonburi 20131, Thailand
    J Environ Biol 28:701-5. 2007
    ..We concluded that both detections in tonguefish can be regarded as a complementary biomarkers for the exposure of PAHs in tropical marine environments...
  99. ncbi Photochemical degradation of polycyclic aromatic hydrocarbons in oil films
    Desiree L Plata
    Department of Marine Chemistry and Geochemistry, Woods Hole Oceanographic Institution, Woods Hole, Massachusetts 02543, USA
    Environ Sci Technol 42:2432-8. 2008
    ..Our results indicate that photomediated reactions with other compounds in the oil mixture were responsible for PAH photodegradation in the oil film...
  100. doi New direct contact approach to evaluate soil genotoxicity using the Vicia faba micronucleus test
    Claire Emmanuelle Marcato-Romain
    Universite de Toulouse, Laboratoire d Ecologie Fonctionnelle EcoLab, UPS, INP, ENSAT, Avenue de l Agrobiopole, 31326 Castanet Tolosan Cedex, France
    Chemosphere 77:345-50. 2009
    ..The direct contact method was found to be rapid, sensitive and well suited to the evaluation of soil quality...
  101. doi Detecting 3D Corpus Callosum abnormalities in phenylketonuria
    Qing He
    Department of Computer Science, University of Missouri, 65211, USA
    Int J Comput Biol Drug Des 2:289-301. 2009
    Phenylketonuria (PKU) is a genetic disorder characterised by an inability to metabolise phenylalanine...

Research Grants77

  1. Cary O Harding; Fiscal Year: 2016
    ..novel therapies for the neurobehavioral symptoms associated with chronic hyperphenylalaninemia in phenylketonuria (PKU), one of the most common inborn errors of metabolism detected through newborn screening...
  2. Augmented Phenylalanine Clearance by Muscles as Novel Therapy for Phenylketonuria
    Cary O Harding; Fiscal Year: 2013
    ..More specifically, the investigators will focus their efforts upon phenylalanine hydroxylase (PAH)-deficient Pahenu2 mice, a model of human phenylketonuria (PKU), and will evaluate expression of a ..
  3. Engineering a Supplemental Phenylalanine Metabolic Pathway to Prevent mPKU
    Stephen K Hunter; Fiscal Year: 2011
    The Hunter lab proposes to develop genetically modified cells to overproduce Phenylalanine Hydroxylase (PAH). This enzyme is frequently mutated and completely or partially inactive in persons with phenylketonuria (PKU)...
  4. Mothers' Experience of Breastfeeding Infants with Phenylketonuria (PKU)
    SANDRA ANN BANTA WRIGHT; Fiscal Year: 2010
    ..this proposed study is to understand how mothers manage breastfeeding infants with the disorder of phenylketonuria (PKU). PKU is an inborn error of metabolism disorder...
  5. Genetic Reconstitution for Phenylketonuria
    Savio Woo; Fiscal Year: 2006 a recessive monogenic disorder in amino acid metabolism that results from a deficiency of hepatic phenylalanine hydroxylase (PAH), and it predisposes affected individuals to severe and permanent mental retardation...
    John Caradonna; Fiscal Year: 2003
    ..elucidate the chemical and physical properties of the mononuclear non-heme iron dependent metalloenzyme, phenylalanine hydroxylase (PAH, phenylalanine 4-monooxygenase, E.C.
  7. Target Organ DNA Damage in Coke Oven Workers
    Glenn Talaska; Fiscal Year: 2010
    ..These data will be useful to establish and occupational exposure guidance value that will protect the health of these and other workers. ..
  8. DNA methylation of extracellular superoxide dismutase in pulmonary hypertension
    EVA NOZIK GRAYCK; Fiscal Year: 2012
    ..abstract_text> ..
  9. Real world biodiesel particulate matter exposure and toxicological responses
    Nora Traviss; Fiscal Year: 2013
    ..This study provides a unique opportunity to engage KSC undergraduates from multiple departments in a cutting- edge, interdisciplinary investigation with direct implications for public health and environmental policy. ..
  10. Fate of Lung Stem Cells During Pulmonary Disease
    Susan M Majka; Fiscal Year: 2012
  11. Serpil C Erzurum; Fiscal Year: 2016
    ..Overall our goals are to define the pathophysiology of the abnormal vascular growth in PAH, and in so doing, apply the knowledge to improve the care of patients. ..
  12. NFATc3 in chronic hypoxic pulmonary hypertension
    Laura V Gonzalez Bosc; Fiscal Year: 2012
    ..A better understanding of this mechanisms in PAH will lead to the development of novel therapeutic approaches to prevent and cure this debilitating disease. ..
  13. Validation of PAH Biomarkers for Quantifying Cancer Risk
    Junfeng Zhang; Fiscal Year: 2003
    ..Statistical methods to be used will include descriptive analyses, scatter plots, correlation analyses, paired comparisons, and linear mixed models. In the mixed models, age, sex, height, weight, and body mass index will be adjusted for. ..
  14. Sharilyn Almodovar; Fiscal Year: 2014
    ..We will use several laboratory techniques single-genome amplification, phylogenetic analyses, cell isolation using magnetic beads, fluorescent in itu hybridization and in vivo cell imaging. ..
  15. Toll-like receptor signaling in pathogenesis of pulmonary hypertension
    Yabing Chen; Fiscal Year: 2013
  16. Prostacyclin Synthase and Receptors in Pulmonary Arterial Hypertension
    Mark W Geraci; Fiscal Year: 2011
  17. Vinicio A de Jesus Perez; Fiscal Year: 2016
  18. Genetic Analysis of Murine Chronic Hypoxia-Induced Pulmonary Hypertension
    William C Nichols; Fiscal Year: 2013
    ..A better understanding of the genetics of right heart dysfunction in these diseases will likely enable new therapies to prevent and/or to treat right heart failure, resulting in reduced morbidity and mortality. ..
  19. ERIC DOUGLAS AUSTIN; Fiscal Year: 2014
    ..This will allow me to compete effectively for future NIH support and propel me to an independent career in patient-oriented research. ..
  20. Protein biomarkers of pulmonary hypertension in sickle cell disease
    Mark E McComb; Fiscal Year: 2013
  21. Calpain Activates Intracellular TGF-beta1 in Pulmonary Hypertension
    Yunchao Su; Fiscal Year: 2013
  22. Edmund J Miller; Fiscal Year: 2016
  23. Circulating biomarkers of IPAH.
    Allen D Everett; Fiscal Year: 2012
    ..Therefore biomarkers could fill this void providing the means to decrease therapeutic morbidity, appropriately escalate therapy and serve as measures to benchmark new therapies. ..
  24. BARRY FANBURG; Fiscal Year: 2015
    ..We hope to better define any role of SERT, TGase activity and protein serotonylation in the development of PH and to consider possible new interventional strategies through these pathways that might be used for treating this disease. ..
  25. Mitochondrial dynamics in human pulmonary hypertension: a new therapeutic target
    WILLARD WILLIAM SHARP; Fiscal Year: 2013
    ..Access to more human samples from the PHBI will catalyze our efforts to devise new mitochondrial-targeted, antiproliferative PAH therapies. ..
  26. Zeenat Safdar; Fiscal Year: 2014
    ..Safdar's development into an independent clinical investigator. Completion of this project will advance our understanding of some of the mechanisms that underlie disease worsening in PAH. ..
  27. National PKU Alliance 2014 &2016 Conference - Scientific Exchange
    DESCRIPTION (provided by applicant): This application is to support the National PKU Alliance's third and fourth national conference and focusing on the day long Scientific Exchange...
  28. Naomi C Chesler; Fiscal Year: 2014
    ..1 ..
  29. Prostacyclin-secreting Cells as Therapy for Pulmonary Artery Hypertension
    Ke He Ruan; Fiscal Year: 2010
    ..These studies should provide sufficient preclinical data to allow this innovative cell therapy to move forward into clinical trials and help usher in a new era in the treatment of this devastating disease. ..
  30. Marlene Rabinovitch; Fiscal Year: 2016
    ..The Administrative Core facilitates exchange of information and postdoctoral training in Lung Translational Medicine, and facilitates our strategy to move elafin into clinical trial in the next cycle. ..
  31. A PDGFR inhibitor for the treatment of pulmonary arterial hypertension
    Lawrence S Zisman; Fiscal Year: 2010
    ..This project is relevant to public health because it will ultimately lead to a new treatment for pulmonary arterial hypertension. ..
  32. Arterial Stiffness in the Pathogenesis of Human Pulmonary Arterial Hypertension
  33. BRIAN BARKLEY GRAHAM; Fiscal Year: 2015
    ..The environments at the level of the University, Division, and Advisory Committees are all optimally aligned for the success of the project and for the career development of the principal investigator. ..
  34. Marlene Rabinovitch; Fiscal Year: 2016
    ..Our studies could lead to using elastin degradation products as biomarkers of early and progressive PAH, and to new treatments that stabilize the elastin matrix. ..
    ..The opportunity to modulate levels of relevant microRNAs and to identify a FDA approved drug that could arrest the progression or reverse PH by restoring normal BMP signaling would be a major breakthrough. ..
  36. Gender differences and endothelin responses in right ventricular afterload stress
    Anna R Hemnes; Fiscal Year: 2012
    ..The higher predisposition of human females to PAH and the use of endothelin blockade in pulmonary arterial hypertension gives this research clinical relevance and biologic importance. ..
  37. Kurt R Stenmark; Fiscal Year: 2016
    ..Collectively, work by this interdisciplinary group will provide insight into abnormalities of RV-pulmonary arterial interactions in the setting of severe pulmonary hypertension and will lay the groundwork for potential new therapies. ..
  38. Grover Conference on Risk Factors in Pulmonary Hypertension
    Karen A Fagan; Fiscal Year: 2011
    ..Today it remains the principal conference for pulmonary vascular function. ..
  39. Elena Goncharova; Fiscal Year: 2015
    ..abstract_text> ..
  40. Molecular Mechanisms of Pulmonary Hypertension in COPD
    Ferhaan Ahmad; Fiscal Year: 2010
    ..This project will analyze the way genes are expressed in their lungs, to determine how this disease develops and to identify ways of curing it. (End of Abstract) ..
  41. Genome-wide map of Genetic Alteration in Human Pulmonary Hypertension Lungs
    Christopher D Coldren; Fiscal Year: 2010
    ..Individuals suffering from PAH have limited treatment options, and by improving our understanding of this disease we hope to stimulate new and nascent treatment strategies. ..
  42. Michael P Snyder; Fiscal Year: 2016
  43. Naomi C Chesler; Fiscal Year: 2016
  44. Bone marrow-derived precursor cells and angioproliferative PH
    Norbert F Voelkel; Fiscal Year: 2012
    ..In sum, this project aims to demonstrate that BM-derived precursor cells contribute to angioproliferation in PAH via growth factor production and engraftment into the vessel wall. ..
  45. Lawrence S Zisman; Fiscal Year: 2016
    ..At the conclusion of this project, the inhaled formulation of PK10453 will have been identified for pivotal IND enabling studies. ..
  46. Cell Specific Localization of Altered Gene Expression in Pulmonary Hypertension
    Marlene Rabinovitch; Fiscal Year: 2012
    ..abstract_text> ..
  47. Exhaled NO and Oxidative Stress in Systemic Sclerosis Pulmonary Hypertension
    Paul M Hassoun; Fiscal Year: 2012
    ..By providing mechanistic insights, this research may also serve as a basis for the testing of novel therapeutic classes, such as anti-oxidants and/or NO donors. ..
  48. Kelly Chin; Fiscal Year: 2016
  49. James E Loyd; Fiscal Year: 2016
    ..This novel program builds directly on recent discoveries of PAH mechanisms to develop therapeutics targeted to interdict those biologic pathways. ..
  50. Priscilla Y Hsue; Fiscal Year: 2016
    ..Our research tem, with a combination of basic and clinician scientists is well poised to address how the nef viral protein and immune dysregulation are contributing factors to this lung complication of HIV. ..
  51. Micheala A Aldred; Fiscal Year: 2016
    ..The long term aims are to better understand what causes pulmonary hypertension and who is most at risk, in order to refine therapeutic interventions and work towards prevention of the disease. ..
  52. Targeting resitin and RELM-beta to treat pulmonary hypertension
    Roger A Johns; Fiscal Year: 2012
    ..This proposal seeks to develop drugs and biomarkers that target this pathway to create new treatments for PAH ..
  53. Pathologic Roles of TRP channels in Idiopathic Pulmonary Arterial Hypertension
    JAMES SK SHAM; Fiscal Year: 2013
    ..These results are expected to have important positive impact because the novel mechanistic information on the pathophysiology of IPAH may help to identify new therapeutic targets for the treatments of this deadly disease. ..
  54. Hyung Joon Chun; Fiscal Year: 2016
  55. Joseph C Wu; Fiscal Year: 2015
    ..In summary, our studies should serve as a model to better understand how iPSC-ECs can be used to uncover and treat genetic predisposition to vascular dysfunction in a wide variety of cardiovascular diseases. (End of Abstract) ..
  56. Precursor cells in human pulmonary hypertension
    Laszlo Farkas; Fiscal Year: 2013
    ..Although animals models are important to investigate disease mechanisms and treatment strategies, it is necessary to examine human tissue specimens to increase the translational value of our animal data. ..
  57. William C Nichols; Fiscal Year: 2016
    ..All biological samples, clinical data, as well as the SNP genotype and sequencing data for the patients will be made available to the scientific community. ..
  58. IXth International Pulmonary Hypertension Conference: Scientific Sessions
    Ivan M Robbins; Fiscal Year: 2010
    ..It should also serve to foster collaboration between basic scientists and clinicians to stimulate more translational research. ..
  59. Interrogation of the Cellular Pathogenesis of Pulmonary Hypertension
    Larissa A Shimoda; Fiscal Year: 2012
    ..Understanding the molecular mechanism by which this occurs can provide insight into the initiation of human PAH and the development of novel therapeutic targets. ..
  60. Mark T Gladwin; Fiscal Year: 2016
    ..vascular disease Project 3: Pulmonary vascular-targeted NO therapeutic strategies Core A: Administrative core Core B: Pre-Clinical Models of PAH Core C: Translational Vascular Phenomics, Genomics and Epidemiology Core ..
  61. 10th International Pulmonary Hypertension Conference: Scientific Sessions
    Todd M Bull; Fiscal Year: 2012
    ..This meeting will bring PH scientists, clinicians and other cardiovascular scientists together to advance understanding of this disease through sharing expertise and research. ..
  62. Mutagenesis of p53 by reactive PAH and ROS
    JEFFREY M FIELD; Fiscal Year: 2012
    ..PAH exposure is a major risk factor in human lung carcinogenesis. This proposal will study the mutagenesis of the p53 oncogene by PAH and their metabolites. ..
  63. Non-Invasive Blood Phenylalanine Monitor
    ABDEL HALIM GHANEM; Fiscal Year: 2002
    Phenylketonuria (PKU) is a genetic deficiency of phenylalanine hydroxylase (PAH). Without PAH, the patient with PKU cannot metabolize phenylalanine (PHE) to tyrosine...
  64. Denise M Ney; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): Individuals with PKU lack the enzyme phenylalanine hydroxylase that is needed to metabolize the essential amino acid phenylalanine (phe)...
  65. A Policy-Oriented History of Newborn Screening for PKU
    Diane Paul; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): Phenylketonuria (PKU) has played a prominent role in the development of modern genetic medicine...
    HELEN CHAO; Fiscal Year: 2000
    Genetic analysis of phenylalanine hydroxylase (PAH) in psychiatric patients and control subjects has shown that a mutation in the cofactor binding domain of the PAH enzyme is identified in patients only among those with the diagnosis of ..
  67. Intravenous non-viral gene therapy for phenylketonuria (PKU)
    Cary Harding; Fiscal Year: 2006
    ..To this end, we will evaluate a novel intravenous hydrodynamic DNA transfer method to express the enzyme phenylalanine hydroxylase (PAH) in skeletal muscle of hyperphenylalaninemic Pahenu2 mice, a model of human PKU...
  68. Dietary Control of PKU with Glycomacropeptide from Whey
    Denise Ney; Fiscal Year: 2007
    Individuals with phenylketonuria (PKU) lack the enzyme phenylalanine hydroxylase needed to metabolize phenylalanine (phe) and show elevated blood phe (>20 mg phe/dL) with normal protein intake...
  69. AAV2/8 vector-mediated liver gene therapy for phenylketonuria (PKU)
    Cary Harding; Fiscal Year: 2009
    ..this project is to develop a safe, effective liver- directed gene transfer technique for IEM by treating phenylalanine hydroxylase (PAH)-deficient Pahenu2 mice, a model of human phenylketonuria (PKU)...
  70. Phenylalanine Hydroxylase Deficiency: Response to BH4
    Reuben Matalon; Fiscal Year: 2002
    Phenylketonuria (PKU), due to phenylalanine hydroxylase (PAH) deficiency, is treated by dietary restriction of phenylalanine (Phe)...
    Neil Sidell; Fiscal Year: 2003
    The disease phenylketonuria (PKU) is caused by mutations in the gene coding for phenylalanine hydroxylase (PAH) which results in hyperphenylalaninemia and elevated levels of abnormal phenylalanine metabolites...
  72. Stem Cell-Mediated Liver Repopulation for Murine PKU
    Cary Harding; Fiscal Year: 2006
    ..Wild type murine HSC will be transplanted into phenylalanine hydroxylase (PAH) deficient Pahenu2 mice, a model of human PKU, under the necessary proliferative and growth ..
  73. A Novel Thioredoxin Mimetic Prodrug for Prevention of Bronchopulmonary Dysplasia
    Prakash Jagtap; Fiscal Year: 2013
    ..The heart will undergo morphometric analysis for evidence of PAH (as shown by right ventricular (RV) hypertrophy). ..
  74. Asthma Increases Vaso-occlusion in Sickle Cell Disease
    Kirkwood A Pritchard; Fiscal Year: 2013
    ..If we are correct, then our drug therapies should improve blood vessel function and decrease airway resistance in SCD mice with experimental asthma. ..
  75. Wai Hong Wilson Tang; Fiscal Year: 2016
    ..We test this hypothesis PAEC derived from patients'lungs, explanted human hearts, and in a mechanistic longitudinal study of ?AR blockade in PAH patients. ..
  76. Prenatal Exposures & Procarcinogenic Mutations
    Manuela Orjuela; Fiscal Year: 2007
    ..Thus, the ultimate goal of this research is to contribute to the prevention of future childhood ALL. ..
  77. Nitric Oxide in Pulmonary Hypertension
    Serpil Erzurum; Fiscal Year: 2009
    ..Our goals in this competitive renewal are to define the pathophysiology of the abnormal vascular growth, and in so doing, apply the knowledge to improve the care of patients. ..