| 1 | CMT2S, IGHMBP2
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| Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2.
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| Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H.
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| Am J Hum Genet 95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. 2014
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| 2 | IGHMBP2
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| Characterization of the promoter region of the human IGHMBP2 (Smubp-2) gene and its response to TPA in HL-60 cells.
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| Uchiumi F, Enokida K, Shiraishi T, Masumi A, Tanuma S.
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| Gene. 463(1-2):8-17. 2010
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| 3 | IGHMBP2, SMARD1
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| IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
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| Guenther UP, Handoko L, Laggerbauer B, Jablonka S, Chari A, Alzheimer M, Ohmer J, Plöttner O, Gehring N, Sickmann A, von Au K, Schuelke M, Fischer U.
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| Hum Mol Genet 18(7):1288-300. Epub 2009 Jan 20.
2009
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| 4 | IGHMBP2, SMARD1
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| Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
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| de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z.
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| Hum Mol Genet 18(12):2115-26. Epub 2009 Mar 19.
2009
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| 5 | IGHMBP2, SMARD1
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| Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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| Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Schuelke M, Hübner C, von Au K.
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| J Child Neurol 23(2):199-204.PMID: 18263757 2008
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| 6 | IGHMBP2, SMARD1
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| Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
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| Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hubner C, von Au K, Schuelke M.
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| Hum Mutat 28(8):808-15. 2007
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| 7 | IGHMBP2, SMARD1
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| A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.
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| Hartley L, Kinali M, Knight R, Mercuri E, Hubner C, Bertini E, Manzur AY, Jimenez-Mallebrera C, Sewry CA, Muntoni F.
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| Neuromuscul Disord 17(2):174-9. Epub 2007 Jan 22.
2007
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| 8 | IGHMBP2, SMARD1
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| Mutation of gene in spinal muscular atrophy respiratory distress type I.
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| Wong VC, Chung BH, Li S, Goh W, Lee SL.
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| Pediatr Neurol 34(6):474-7. 2006
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| 9 | IGHMBP2
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| Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.
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| Corti S, Locatelli F, Papadimitriou D, Donadoni C, Del Bo R, Crimi M, Bordoni A, Fortunato F, Strazzer S, Menozzi G, Salani S, Bresolin N, Comi GP.
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| Hum Mol Genet. 15(2):167-87. 2006
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| 10 | IGHMBP2, SMARD1
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| Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival.
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| Maddatu TP, Garvey SM, Schroeder DG, Zhang W, Kim SY, Nicholson AI, Davis CJ, Cox GA.
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| Hum Mol Genet 14(21):3179-89. Epub 2005 Sep 20. 2005
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| 11 | IGHMBP2, SMARD1
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| A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
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| Tachi N, Kikuchi S, Kozuka N, Nogami A.
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| Pediatr Neurol 32(4):288-90. 2005
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| 12 | SMARD1, IGHMBP2
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| Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
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| Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hubner C, Varon R.
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| Hum Genet um Genet. 2004 Jul 29 [Epub ahead of print] 2004
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| 13 | SMARD1, IGHMBP2
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| Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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| Grohmann K, Rossoll W, Kobsar I, Holtmann B, Jablonka S, Wessig C, Stoltenburg-Didinger G, Fischer U, Hubner C, Martini R, Sendtner M.
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| Hum Mol Genet 13(18):2031-42. Epub 2004 Jul 21. 2004
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| 14 | IGHMBP2
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| Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy.
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| Maddatu TP, Garvey SM, Schroeder DG, Hampton TG, Cox GA.
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| Hum Mol Genet. 13(11):1105-15. 2004
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| 15 | SMARD1, IGHMBP2
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| Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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| Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmuller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloglu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schoneborn S, Hubner C.
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| Ann Neurol 54(6):719-24. 2003
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| 16 | IGHMBP2, SMARD1
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| Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
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| Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C.
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| Nat Genet 29(1):75-7. 2001
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| 17 | IGHMBP2
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| A novel human hexameric DNA helicase: expression, purification and characterization.
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| Biswas EE, Nagele RG, Biswas S.
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| Nucleic Acids Res 29(8):1733-40. 2001
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| 18 | IGHMBP2
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| The human Smubp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region.
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| Fukita Y, et al.
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| J Biol Chem 268 : 17463-17470. 1993
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| 19 | IGHMBP2
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| Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences.
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| Mizuta TR, Fukita Y, Miyoshi T, Shimizu A, Honjo T.
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| Nucleic Acids Res 21(8):1761-6. 1993
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