| 1 | PAH, PKU
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| Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.
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| Gersting SW, Staudigl M, Truger MS, Messing DD, Danecka MK, Sommerhoff CP, Kemter KF, Muntau AC.
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| J Biol Chem 285(40):30686-97. Epub 2010 Jul 27.PMID: 20667834 2010
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| 2 | PAH, PKU
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| The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.
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| Dobrowolski SF, Andersen HS, Doktor TK, Andresen BS.
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| Mol Genet Metab 100(4):316-23. Epub 2010 Apr 14.PMID: 20457534 2010
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| 3 | PAH, PKU
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| Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.
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| Zhu T, Qin S, Ye J, Qiu W, Han L, Zhang Y, Gu X.
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| Pediatr Res 67(3):280-5.PMID: 19915519 2010
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| 4 | PAH, PKU
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| Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase.
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| Roato I, Porta F, Mussa A, D'Amico L, Fiore L, Garelli D, Spada M, Ferracini R.
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| PLoS One 5(11):e14167.PMID: 21152388 2010
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| 5 | PAH, PKU
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| BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.
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| Singh RH, Quirk ME, Douglas TD, Brauchla MC.
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| J Inherit Metab Dis 33(6):689-95. Epub 2010 Oct 13.PMID: 20941642 2010
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| 6 | PAH, PKU
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| Variations in genotype-phenotype correlations in phenylketonuria patients.
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| Santos LL, Fonseca CG, Starling AL, Januário JN, Aguiar MJ, Peixoto MG, Carvalho MR.
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| Genet Mol Res 9(1):1-8.PMID: 20082265 2010
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| 7 | PAH, PKU
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| Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.
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| Dobrowolski SF, Pey AL, Koch R, Levy H, Ellingson CC, Naylor EW, Martinez A.
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| J Inherit Metab Dis 32(1):10-21. Epub 2008 Oct 21.PMID: 18937047 2009
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| 8 | PAH, PKU
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| The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine.
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| Steventon GB, Mitchell SC, Pérez B, Desviat LR, Ugarte M.
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| Mol Genet Metab 96(1):27-31. Epub 2008 Nov 25.PMID: 19036622 2009
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| 9 | PAH, PKU
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| Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
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| Bercovich D, Elimelech A, Zlotogora J, Korem S, Yardeni T, Gal N, Goldstein N, Vilensky B, Segev R, Avraham S, Loewenthal R, Schwartz G, Anikster Y.
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| J Hum Genet 53(5):407-18. Epub 2008 Feb 26. 2008
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| 10 | PAH, PKU
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| Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
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| Kasnauskiene J, Cimbalistiene L, Kucinskas V.
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| Genetika 44(10):1397-403.PMID: 19062537 2008
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| 11 | PAH, PKU
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| Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.
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| Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC.
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| Am J Hum Genet 83(1):5-17. Epub 2008 Jun 5.PMID: 18538294 2008
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| 12 | PKU, PAH
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| Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.
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| Pey AL, Stricher F, Serrano L, Martinez A.
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| Am J Hum Genet 81(5):1006-24. Epub 2007 Oct 2. 2007
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| 13 | PAH, PKU
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| Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
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| Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL.
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| Mol Genet Metab 91(3):218-27. Epub 2007 May 14.PMID: 17502162 2007
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| 14 | PAH, PKU
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| Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.
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| Gjetting T, Petersen M, Guldberg P, Guttler F.
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| Am J Hum Genet 68(6):1353-60. Epub 2001 Apr 20. 2001
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| 15 | PAH, PKU
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| Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.
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| Waters PJ, Parniak MA, Akerman BR, Scriver CR.
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| Mol Genet Metab 69(2):101-10. Erratum in: Mol Genet Metab 2001 Jan;72(1):89. 2000
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| 16 | PAH, PKU
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| The Structural Basis of Phenylketonuria.
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| Erlandsen H, et al.
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| Mol Genet Metab 68(2):103-125 1999
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| 17 | PKU
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| Monogenic traits are not simple: lessons from phenylketonuria.
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| Scriver CR, Waters PJ.
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| Trends Genet 15(7):267-72. Review. 1999
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| 18 | PAH, PKU
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| A European multicenter study of phenylalanine hydroxylase deficiency : classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
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| Guldberg P, et al.
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| Am J Hum Genet 63 : 71-79. 1998
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| 19 | PAH, PKU
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| Phenylalanine hydroxylase gene mutations in the United States : report from the Maternal PKU Collaborative Study.
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| Guldberg P, et al.
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| Am J Hum Genet 59 : 84-94. 1996
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| 20 | PAH, PKU
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| Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland : frequent mutation allows screening and early diagnosis.
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| Zschocke J, et al.
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| Hum Mutat 4 : 114-118. 1994
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| 21 | PAH, PKU
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| Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.
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| Kleiman S, et al.
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| Hum Mol Genet 2 : 605-606. 1993
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| 22 | PAH, PKU
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| A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.
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| Goltsov AA, et al.
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| Hum Mol Genet 2 : 577-581. 1993
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| 23 | PAH, PKU
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| A novel missense mutation in the phenylalanine hydroxylase gene of a homozygous Pakistani patient with non-PKU hyperphenylalaninemia.
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| Guldberg P, et al.
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| Hum Mol Genet 2 : 1061-1062. 1993
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| 24 | PAH, PKU
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| Presence of the Mediterranean PKU mutation IVS10 in Latin America.
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| Perez B, et al.
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| Hum Mol Genet 2 : 1289-1290. 1993
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| 25 | PAH, PKU
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| Phenylalanine hydroxylase gene : a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
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| Zygulska M, et al.
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| Hum Mutat 2 : 238-239. 1993
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| 26 | PAH, PKU
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| Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
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| Abadie V, et al.
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| Hum Mol Genet 2 : 31-34. 1993
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| 27 | PAH, PKU
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| Identification of three novel missense PKU mutations among Chinese.
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| Li J, et al.
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| Genomics 13 : 894-895. 1992
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| 28 | PAH, PKU
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| Molecular basis of phenylketonuria and related hyperphenylalaninemias : mutations and polymorphisms in the human phenylalanine hydroxylase gene.
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| Eisensmith RC, et al.
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| Hum Mutat 1 : 13-23. 1992
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| 29 | PAH, PKU
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| Time and space clusters of the French-Canadian MIV phenylketonuria mutation in France.
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| Lyonnet S, et al.
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| Am J Hum Genet 51 : 191-196. 1992
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| 30 | PKU
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| Molecular basis of phenotypic heterogeneity in phenylketonuria.
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| Okano Y, et al.
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| N Engl J Med 324 : 1232-1238. 1991
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| 31 | PKU
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| A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
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| Caillaud C, et al.
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| J Biol Chem 266 : 9351-9355. 1991
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| 32 | PAH, PKU
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| The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
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| Konecki DS, et al.
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| Hum Genet 87 : 389-393. 1991
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| 33 | PKU
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| Aberrant splicing of phenylalanine hydroxylase mRNA : the major cause for phenylketonuria in parts of southern Europe.
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| Dworniczak B, et al.
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| Genomics 11 : 242-246. 1991
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| 34 | PKU
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| Phenylketonuria missense mutations in the Mediterranean.
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| Okano Y, et al.
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| Genomics 9 : 96-103. 1991
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| 35 | PKU
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| Two distinct mutations at a single BamHI site in phenylketonuria.
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| Melle D, et al.
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| J Med Genet 28 : 38-40. 1991
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| 36 | PAH, PKU
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| Application of a new DNA sequence polymorphism as a genetic marker in prenatal diagnosis of phenylketonuria.
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| Huang SZ, et al.
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| J Med Genet 27 : 65-66. 1990
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| 37 | PAH, PKU
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| Molecular genetics of phenylketonuria and its implications.
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| Levy HL.
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| Am J Hum Genet 45 : 667-670. 1989
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| 38 | PAH, PKU
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| CpG dinucleotides are mutation hot spots in phenylketonuria.
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| Abadie V, et al.
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| Genomics 5 : 936-939. 1989
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| 39 | PAH, PKU
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| Molecular genetics of phenylketonuria in Mediterranean countries : a mutation associated with partial phenylalanine hydroxylase deficiency.
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| Lyonnet S, et al.
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| Am J Hum Genet 44 : 511-517. 1989
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| 40 | PAH, PKU
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| Phenylketonuria : detection of a frequent haplotype 4 allele mutation.
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| Dworniczak B, et al.
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| Hum Genet 84 : 95-96. 1989
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| 41 | PKU
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| Molecular genetics of phenylketonuria in Orientals : linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.
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| Wang T, et al.
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| Am J Hum Genet 45 : 675-680. 1989
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| 42 | PKU
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| Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction.
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| DiLella AG, et al.
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| Lancet I : 497-499. 1988
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| 43 | PKU
|
| Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.
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| Rey F, et al.
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| Am J Hum Genet 43 : 914-921. 1988
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| 44 | PKU
|
| The PKU locus in man is on chromosome 12.
|
| Lidsky AS, et al.
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| Am J Hum Genet 36 : 527-533. 1984
|