| 1 | ACTG2, MMIH2
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| Diagnosis of Chronic Intestinal Pseudo-obstruction & Megacystis by Sequencing the ACTG2 Gene.
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| Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky J.
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| J Pediatr Gastroenterol Nutr Pediatr Gastroenterol Nutr. 2017 Apr 18. doi: 10.1097/MPG.0000000000001608. [Epub ahead of print]
2017
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| 2 | ACTG2, MMIH2
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| ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
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| Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM.
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| Hum Mol Genet 25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8.
2016
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| 3 | ACTG2, MMIH2
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| Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.
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| Lu W, Xiao Y, Huang J, Tao Y, Yan W, Lu L, Cao Y, Cai W.
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| J Pediatr Gastroenterol Nutr 63(6):624-626.
2016
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| 4 | ACTG2, MMIH2
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| Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
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| Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I.
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| Eur J Hum Genet 24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27.
2016
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| 5 | ACTG2, MMIH2
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| Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
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| Klar J, Raykova D, Gustafson E, Tóthová I, Ameur A, Wanders A, Dahl N.
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| Eur J Hum Genet 23(12):1679-83. doi: 10.1038/ejhg.2015.49. Epub 2015 Mar 18.
2015
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| 6 | ACTG2, MMIH2
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| Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
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| Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A.
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| PLoS Genet 10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.
2014
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| 7 | ACTG2, MMIH2
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| De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
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| Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M.
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| Hum Genet 133(6):737-42. doi: 10.1007/s00439-013-1406-0. Epub 2013 Dec 13.
2014
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| 8 | ACTG2, MMIH2
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| De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
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| Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M.
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| Hum Genet 133(6):737-42. doi: 10.1007/s00439-013-1406-0. Epub 2013 Dec 13.
2014
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| 9 | ACTG2, MMIH2
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| Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.
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| Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Järvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S.
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| Gastroenterology 143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.
2012
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