| 1 | CDG1T, PGM1
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| The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
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| Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B.
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| Am J Hum Genet 104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11.
2019
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| 2 | CDG1T, PGM1
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| Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
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| Loewenthal N, Haim A, Parvari R, Hershkovitz E.
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| Am J Med Genet A 167(12):3139-43. doi: 10.1002/ajmg.a.37294. Epub 2015 Aug 19.
2015
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| 3 | PGM1
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| Molecular characterization, expression patterns, and promoter activity analysis of PGM1 in pigs.
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| Yu JY, Shao SM, Xiong YZ.
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| Genet Mol Res 14(1):2816-24. doi: 10.4238/2015.March.31.12.
2015
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| 4 | PGM1
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| Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function.
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| Beamer LJ.
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| J Inherit Metab Dis 38(2):243-56. doi: 10.1007/s10545-014-9757-9. Epub 2014 Aug 29.
2015
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| 5 | PGM1
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| Phosphoglucomutase1 is necessary for sustained cell growth under repetitive glucose depletion.
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| Bae E, Kim HE, Koh E, Kim KS.
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| FEBS Lett 588(17):3074-80. doi: 10.1016/j.febslet.2014.06.034. Epub 2014 Jun 18.
2014
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| 6 | CDG1T, PGM1
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| Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.
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| Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H.
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| Neuro Endocrinol Lett 35(2):137-41.
2014
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| 7 | CDG1T, PGM1
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| Multiple phenotypes in phosphoglucomutase 1 deficiency.
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| Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T.
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| N Engl J Med 370(6):533-42. doi: 10.1056/NEJMoa1206605.
2014
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| 8 | CDG1T, PGM1
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| Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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| Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ.
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| Hum Mol Genet 21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5.
2012
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| 9 | LDB3, PGM1
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| Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.
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| Arimura T, Inagaki N, Hayashi T, Shichi D, Sato A, Hinohara K, Vatta M, Towbin JA, Chikamori T, Yamashina A, Kimura A.
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| Cardiovasc Res 83(1):80-8. doi: 10.1093/cvr/cvp119. Epub 2009 Apr 17.
2009
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| 10 | PGM1
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| Phosphoglucomutase genetic polymorphism and body mass.
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| Gloria-Bottini F, Magrini A, Antonacci E, La Torre M, Di Renzo L, De Lorenzo A, Bergamaschi A, Bottini E.
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| Am J Med Sci 334(6):421-5.
2007
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| 11 | PGM1
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| Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.
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| Rana NA, Ebenezer ND, Webster AR, Linares AR, Whitehouse DB, Povey S, Hardcastle AJ.
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| Hum Mol Genet 13(24):3089-102. Epub 2004 Dec 15. 2004
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| 12 | PAK1, PGM1
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| Regulation of phosphoglucomutase 1 phosphorylation and activity by a signaling kinase.
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| Gururaj A, Barnes CJ, Vadlamudi RK, Kumar R.
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| Oncogene 23(49):8118-27.
2004
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| 13 | PGM1
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| Identification and characterisation of polymorphisms in human phosphoglucomutase (PGM1)
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| Yip SP, Putt W, Hopkinson DA, Whitehouse DB.
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| Ann Hum Genet 63:129-140 1999
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| 14 | PGM2, PGM1, PGM3
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| A phylogenetic approach to the identification of phosphoglucomutase genes.
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| Whitehouse DB, Tomkins J, Lovegrove JU, Hopkinson DA, McMillan WO.
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| Mol Biol Evol 15(4):456-62. 1998
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| 15 | PGM1
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| Phosphoglucomutase 1 : a gene with two promoters and a duplicated first exon.
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| Putt W, et al.
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| Biochem J 296 : 417-422. 1993
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| 16 | PGM1
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| Genetic polymorphism in the 3' untranslated region of human phosphoglucomutase-1.
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| March RE, et al.
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| Ann Hum Genet 57 : 1-8. 1993
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| 17 | PGM1
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| Phosphoglucomutase 1: complete human and rabbit mRNA sequences and direct mapping of this highly polymorphic marker on human chromosome 1.
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| Whitehouse DB, et al.
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| Proc Natl Acad Sci U S A 89 : 411-415. 1992
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| 18 | PGM1
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| Two TaqI polymorphisms at the human PGM1 locus.
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| Hollyoake M, et al.
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| Hum Mol Genet 1 : 354. 1992
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| 19 | D1S2, C8A, PGM1
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| D1S2 is close to C8A and distal to PGM1 in Norwegian families.
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| Hšyheim B, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1855. 1991
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| 20 | ACADM, PGM1
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| The mapping of ACADM and D1S2 proximal to PGM1 revises the regional assignment of PGM1 on 1p.
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| Pakstis AJ, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1056-1057. 1989
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| 21 | PGM1, D1S2
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| The anonymous RFLP locus D1S2 is close to PGM1 on chromosome 1.
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| Kidd KK, et al.
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| Hum Hered 38 : 22-26. 1988
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| 22 | PGM1
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| Characterization of a complex Philadelphia translocation (1q-;9q+;22q-) by gene mapping.
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| Geurts van Kessel AH, van Agthoven AJ, de Groot PG, Hagemeijer A.
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| Hum Genet 58 : 162-165. 1981
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| 23 | PGM3, PEPC, PGD, PGM1
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| Localization of genes on human chromosomes by studies of human-chinese hamster somatic cell hybrids : assignment of PGM3 to chromosome C6 and regional mapping of the PGD, PGM1 and Pep-C genes on chromosome A1.
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| Jongsma APM, et al.
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| Humangenetik 20 : 195-202. 1973
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| 24 | PGM1, PEPC, RH
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| Linkage data on Rh, PGM1, PGD, Peptidase C and Fy from family studies.
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| Robson EB, et al.
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| Ann Hum Genet 36 : 393-399. 1973
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| 25 | PGM1
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| Further evidence on the assignment of the 6-phosphogluconate dehydrogenase (6PGD) and phosphoglucomutase-1 (PGM1) syntenic group in the human genome.
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| Hamerton JL, et al.
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| Genetics 71 : S23. 1972
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| 26 | PGM1, PGD
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| Evidence for linkage between human loci for 6-phosphogluconate dehydrogenase and phosphoglucomutase 1 in man-Chinese hamster somatic cell hybrids.
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| Westerveld A, et al.
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| Nature 236 : 30-32. 1972
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| 27 | PGM1, PEPC
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| Liaison probable (linkage) entre les locus PGM et Peptidase C chezl'homme.
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| Nguyen Van Cong, et al.
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| C R Acad Sci III 272 : 485-487. 1971
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