| 1 | LGMD2K, POMT1
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| Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
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| Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E.
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| Eur J Hum Genet 20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2.
2012
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| 2 | LGMD2K, POMT1
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| Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
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| Bello L, Melacini P, Pezzani R, D'Amico A, Piva L, Leonardi E, Torella A, Soraru G, Palmieri A, Smaniotto G, Gavassini BF, Vianello A, Nigro V, Bertini E, Angelini C, Tosatto SC, Pegoraro E.
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| Eur J Hum Genet 20(12):1234-9. doi: 10.1038/ejhg.2012.71. Epub 2012 May 2.
2012
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| 3 | POMGNT1, POMT1, POMT2
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| Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.
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| Akasaka-Manya K, Manya H, Hayashi M, Endo T.
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| Biochem Biophys Res Commun 411(4):721-5. Epub 2011 Jul 18. 2011
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| 4 | POMT1, POMT2
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| Akasaka-Manya K, Manya H, Hayashi M, Endo T.
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| Akasaka-Manya K, Manya H, Hayashi M, Endo T.
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| Biochem Biophys Res Commun. 411(4):721-5. 2011
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| 5 | POMT1, POMT2
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| Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.
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| Manya H, Akasaka-Manya K, Nakajima A, Kawakita M, Endo T.
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| J Biochem 147(3):337-44. Epub 2009 Oct 29.
2010
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| 6 | POMGNT1, POMT1, POMT2
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| POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
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| Endo T, Manya H, Seta N, Guicheney P.
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| Methods Enzymol 479:343-52.
2010
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| 7 | POMT1, WLKWS1
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| POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.
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| Judas M, Sedmak G, Rados M, Sarnavka V, Fumić K, Willer T, Gross C, Hehr U, Strahl S, Cuk M, Barić I.
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| Neuropediatrics 40(1):6-14. Epub 2009 Jul 28.
2009
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| 8 | FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
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| Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.
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| Ann Neurol 64(5):573-82. 2008
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| 9 | FCMD, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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| Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA.
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| Hum Mutat 29(11):E231-41. 2008
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| 10 | FCMD, FKRP, FKTN, LARGE, POMG, POMGNT1, POMT1, POMT2, WLKWS1, WLKWS2, WLKWS3, WLKWS4
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| Muscular dystrophies due to defective glycosylation of dystroglycan.
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| Muntoni F, Brockington M, Godfrey C, Ackroyd M, Robb S, Manzur A, Kinali M, Mercuri E, Kaluarachchi M, Feng L, Jimenez-Mallebrera C, Clement E, Torelli S, Sewry CA, Brown SC.
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| Acta Myol 26(3):129-35. Review. 2007
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| 11 | LGMD2K, WLKWS1, POMT1
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| The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
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| van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.
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| Hum Mutat 27(5):453-9. 2006
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| 12 | FKRP, FKTN, ITGA7, ITGA7D, LAMA2, MDC1A, MDC1B, POMGNT1, POMT1, RSMD1, SEPN1, WLKWS1, WLKWS4
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| Case 35-2006 -- A Newborn Boy with Hypotonia.
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| Brown RH Jr, Grant PE, Pierson CR.
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| N Engl J Med 355(20):2132-2142. No abstract available. 2006
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| 13 | POMT1, WLKWS1
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| Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
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| Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA.
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| Am J Med Genet A 133(1):53-7. 2005
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| 14 | WLKWS1, POMT1, FKTN, FCMD
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| Glyc-O-genetics of Walker-Warburg syndrome.
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| van Reeuwijk J, Brunner HG, van Bokhoven H.
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| Clin Genet 67(4):281-9. 2005
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| 15 | POMT1
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| Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
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| Willer T, Prados B, Falcon-Perez JM, Renner-Muller I, Przemeck GK, Lommel M, Coloma A, Valero MC, de Angelis MH, Tanner W, Wolf E, Strahl S, Cruces J.
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| Proc Natl Acad Sci U S A 101(39):14126-31. Epub 2004 Sep 21. 2004
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| 16 | POMT1, POMT2
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| Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
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| Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, Margolis RU, Endo T.
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| Proc Natl Acad Sci U S A 101(2):500-5. Epub 2003 Dec 29. 2004
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| 17 | POMT1, POMT2, WLKWS1
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| Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
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| Akasaka-Manya K, Manya H, Endo T.
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| Biochem Biophys Res Commun 325(1):75-9. 2004
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| 18 | WLKWS1, POMT1
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| Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
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| Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, Beltran-Valero de Barnabe D, van Bokoven H, Squarzoni S, Merlini L.
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| Biochim Biophys Acta 1638(1):57-62. 2003
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| 19 | POMT1, WLKWS1
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| Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome.
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| Beltran-Valero De Bernabe D, Currier S, Steinbrecher A, Celli J, Van Beusekom E, Van Der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, Van Bokhoven H, Brunner HG.
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| Am J Hum Genet 71(5):1033-43. 2002
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| 20 | POMT1
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| Identification of a human homolog of the drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.
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| Jurado LA, et al.
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| Genomics 58(2):171-80. 1999
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