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    Results: 1 to 20 of 22

    1.

    Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

    Machado P, Manco L, Gomes C, Mendes C, Fernandes N, Salomé G, Sitoe L, Chibute S, Langa J, Ribeiro L, Miranda J, Cano J, Pinto J, Amorim A, do Rosário VE, Arez AP.

    PLoS One. 2012;7(10):e47071. doi: 10.1371/journal.pone.0047071. Epub 2012 Oct 17.

    PMID:
    23082140
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.

    So CC, Tang M, Li CH, Ha SY, Pissard S, Chan LC.

    Hematology. 2011 Nov;16(6):377-9. doi: 10.1179/102453311X13127324303317.

    PMID:
    22183074
    [PubMed - indexed for MEDLINE]
    3.

    Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.

    B R, C GP.

    PLoS One. 2011;6(9):e24607. doi: 10.1371/journal.pone.0024607. Epub 2011 Sep 13.

    PMID:
    21931771
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Genetic diversity in human erythrocyte pyruvate kinase.

    Berghout J, Higgins S, Loucoubar C, Sakuntabhai A, Kain KC, Gros P.

    Genes Immun. 2012 Jan;13(1):98-102. doi: 10.1038/gene.2011.54. Epub 2011 Aug 11.

    PMID:
    21833022
    [PubMed - indexed for MEDLINE]
    5.

    Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

    Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, Wang K.

    Discov Med. 2011 Jul;12(62):41-55.

    PMID:
    21794208
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    c-Myc is required for the CHREBP-dependent activation of glucose-responsive genes.

    Zhang P, Metukuri MR, Bindom SM, Prochownik EV, O'Doherty RM, Scott DK.

    Mol Endocrinol. 2010 Jun;24(6):1274-86. doi: 10.1210/me.2009-0437. Epub 2010 Apr 9.

    PMID:
    20382893
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Malaria: looking for selection signatures in the human PKLR gene region.

    Machado P, Pereira R, Rocha AM, Manco L, Fernandes N, Miranda J, Ribeiro L, do Rosário VE, Amorim A, Gusmão L, Arez AP.

    Br J Haematol. 2010 Jun;149(5):775-84. doi: 10.1111/j.1365-2141.2010.08165.x. Epub 2010 Apr 4.

    PMID:
    20377593
    [PubMed - indexed for MEDLINE]
    8.

    Mapping of Char10, a novel malaria susceptibility locus on mouse chromosome 9.

    Min-Oo G, Willemetz A, Tam M, Canonne-Hergaux F, Stevenson MM, Gros P.

    Genes Immun. 2010 Mar;11(2):113-23. doi: 10.1038/gene.2009.78. Epub 2009 Oct 29.

    PMID:
    19865104
    [PubMed - indexed for MEDLINE]
    9.

    Analysis of malaria associated genetic traits in Cabo Verde, a melting pot of European and sub Saharan settlers.

    Alves J, Machado P, Silva J, Gonçalves N, Ribeiro L, Faustino P, do Rosário VE, Manco L, Gusmão L, Amorim A, Arez AP.

    Blood Cells Mol Dis. 2010 Jan 15;44(1):62-8. doi: 10.1016/j.bcmd.2009.09.008. Epub 2009 Oct 17.

    PMID:
    19837619
    [PubMed - indexed for MEDLINE]
    10.

    Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.

    Meza NW, Alonso-Ferrero ME, Navarro S, Quintana-Bustamante O, Valeri A, Garcia-Gomez M, Bueren JA, Bautista JM, Segovia JC.

    Mol Ther. 2009 Dec;17(12):2000-9. doi: 10.1038/mt.2009.200. Epub 2009 Sep 15.

    PMID:
    19755962
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Adenosine triphosphate depletion of erythrocytes simulates the phenotype associated with pyruvate kinase deficiency and confers protection against Plasmodium falciparum in vitro.

    Ayi K, Liles WC, Gros P, Kain KC.

    J Infect Dis. 2009 Oct 15;200(8):1289-99. doi: 10.1086/605843.

    PMID:
    19743919
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q.

    Prokopenko I, Zeggini E, Hanson RL, Mitchell BD, Rayner NW, Akan P, Baier L, Das SK, Elliott KS, Fu M, Frayling TM, Groves CJ, Gwilliam R, Scott LJ, Voight BF, Hattersley AT, Hu C, Morris AD, Ng M, Palmer CN, Tello-Ruiz M, Vaxillaire M, Wang CR, Stein L, Chan J, Jia W, Froguel P, Elbein SC, Deloukas P, Bogardus C, Shuldiner AR, McCarthy MI; International Type 2 Diabetes 1q Consortium.

    Diabetes. 2009 Jul;58(7):1704-9. doi: 10.2337/db09-0081. Epub 2009 Apr 23.

    PMID:
    19389826
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.

    Manco L, Ribeiro ML.

    Hum Genet. 2009 Apr;125(3):343. No abstract available.

    PMID:
    19320017
    [PubMed - indexed for MEDLINE]
    14.

    Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.

    Manco L, Trovoada MJ, Ribeiro ML.

    Hum Genet. 2009 Apr;125(3):340. No abstract available.

    PMID:
    19309805
    [PubMed - indexed for MEDLINE]
    15.

    Novel human pathological mutations. Gene symbol: PKLR. Disease: pyruvate kinase deficiency.

    Manco L, Ribeiro ML.

    Hum Genet. 2009 Apr;125(3):340. No abstract available.

    PMID:
    19309787
    [PubMed - indexed for MEDLINE]
    16.

    Phenotypic and molecular evaluation of a chromosome 1q region with linkage and association to type 2 diabetes in humans.

    Wang H, Hays NP, Das SK, Craig RL, Chu WS, Sharma N, Elbein SC.

    J Clin Endocrinol Metab. 2009 Apr;94(4):1401-8. doi: 10.1210/jc.2008-2132. Epub 2009 Jan 13.

    PMID:
    19141583
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits.

    Andreasen CH, Mogensen MS, Borch-Johnsen K, Sandbaek A, Lauritzen T, Almind K, Hansen L, Jørgensen T, Pedersen O, Hansen T.

    BMC Med Genet. 2008 Dec 26;9:118. doi: 10.1186/1471-2350-9-118.

    PMID:
    19111066
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

    Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.

    van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW.

    Hum Mutat. 2009 Mar;30(3):446-53. doi: 10.1002/humu.20915.

    PMID:
    19085939
    [PubMed - indexed for MEDLINE]
    19.

    Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.

    Manco L, Relvas L, Rebelo U, Vidán J, Ribeiro ML.

    Hum Genet. 2008 Oct;124(3):319. No abstract available.

    PMID:
    18846674
    [PubMed - indexed for MEDLINE]
    20.

    Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.

    Kedar P, Hamada T, Warang P, Nadkarni A, Shimizu K, Fujji H, Ghosh K, Kanno H, Colah R.

    Clin Genet. 2009 Feb;75(2):157-62. doi: 10.1111/j.1399-0004.2008.01079.x. Epub 2008 Aug 28.

    PMID:
    18759866
    [PubMed - indexed for MEDLINE]

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