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Cited by in F6Publishing
For: Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP. Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A. 2016;170:2965-2974. [PMID: 27481187 DOI: 10.1002/ajmg.a.37857] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 3.2] [Reference Citation Analysis]
Number Citing Articles
1 Moreno CA, Sobreira N, Pugh E, Zhang P, Steel G, Torres FR, Cavalcanti DP. Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet 2018;26:669-75. [PMID: 29453416 DOI: 10.1038/s41431-017-0055-5] [Cited by in Crossref: 18] [Cited by in F6Publishing: 15] [Article Influence: 4.5] [Reference Citation Analysis]
2 Buinoiu N, Panaitescu A, Demetrian M, Ionescu S, Peltecu G, Veduta A. Ultrasound prenatal diagnosis of typical megacystis, microcolon, intestinal hypoperistalsis syndrome. Clin Case Rep 2018;6:855-8. [PMID: 29744072 DOI: 10.1002/ccr3.1481] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
3 Hashmi SK, Ceron RH, Heuckeroth RO. Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton. Am J Physiol Gastrointest Liver Physiol 2021;320:G919-35. [PMID: 33729000 DOI: 10.1152/ajpgi.00066.2021] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD. Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction. J Clin Gastroenterol. 2018;52:477-489. [PMID: 29877952 DOI: 10.1097/mcg.0000000000001047] [Cited by in Crossref: 19] [Cited by in F6Publishing: 11] [Article Influence: 6.3] [Reference Citation Analysis]
5 Sandy NS, Huysentruyt K, Mulder DJ, Warner N, Chong K, Morel C, AlQahtani S, Wales PW, Martin MG, Muise AM, Avitzur Y. The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders. J Pediatr Gastroenterol Nutr 2022;74:575-81. [PMID: 35149643 DOI: 10.1097/MPG.0000000000003400] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Bianco F, Lattanzio G, Lorenzini L, Diquigiovanni C, Mazzoni M, Clavenzani P, Calzà L, Giardino L, Sternini C, Bonora E, De Giorgio R. Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility. Eur J Histochem 2021;65. [PMID: 34818877 DOI: 10.4081/ejh.2021.3289] [Reference Citation Analysis]
7 Lombardi L, Bruder E, Pio L, Nozza P, Thai E, Lerone M, Del Rossi C, Mattioli G, Silini EM, Paraboschi I, Martucciello G. Diagnostic Criteria of Pediatric Intestinal Myopathies. J Pediatr Gastroenterol Nutr 2018;66:383-6. [PMID: 28837505 DOI: 10.1097/MPG.0000000000001727] [Reference Citation Analysis]
8 Yetman AT, Starr LJ. Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes. Am J Med Genet A. 2018;176:1011-1014. [PMID: 29575632 DOI: 10.1002/ajmg.a.38647] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 4.3] [Reference Citation Analysis]
9 Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian L, Magnin E, Bôle-Feysot C, Masson C, Ville Y, Roth P, Prieur F, Bessieres B, Bonniere M, Attie-Bitach T. Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Clin Genet 2020;98:261-73. [PMID: 32621347 DOI: 10.1111/cge.13801] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
10 Dahiya DS, Batth A, Batth J, Wani F, Singh J, Kichloo A. Hollow Visceral Myopathy, a Rare Gastrointestinal Disorder: A Case Report and Short Review. J Investig Med High Impact Case Rep 2021;9:23247096211034303. [PMID: 34378443 DOI: 10.1177/23247096211034303] [Reference Citation Analysis]
11 Kandler JL, Sklirou E, Woerner A, Walsh L, Cox E, Xue Y. Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome. Mol Genet Genomic Med 2020;8:e1516. [PMID: 33031641 DOI: 10.1002/mgg3.1516] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
12 Yang WX, Zhang HH, Hu JN, Zhao L, Li YY, Shao XL. ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature. World J Clin Cases 2021; 9(29): 8789-8796 [PMID: 34734057 DOI: 10.12998/wjcc.v9.i29.8789] [Reference Citation Analysis]
13 Wang J, Rattner A, Nathans J. A transcriptome atlas of the mouse iris at single-cell resolution defines cell types and the genomic response to pupil dilation. Elife 2021;10:e73477. [PMID: 34783308 DOI: 10.7554/eLife.73477] [Reference Citation Analysis]
14 Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF; Baylor-Hopkins Center for Mendelian Genomics. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat 2020;41:641-54. [PMID: 31769566 DOI: 10.1002/humu.23960] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
15 Matera I, Bordo D, Di Duca M, Lerone M, Santamaria G, Pongiglione M, Lezo A, Diamanti A, Spagnuolo MI, Pini Prato A, Alberti D, Mattioli G, Gandullia P, Ceccherini I. Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. Clin Genet 2021;99:430-6. [PMID: 33294969 DOI: 10.1111/cge.13895] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
16 Chen SN, Wang YQ, Hao CL, Lu YH, Jiang WJ, Gao CY, Wu M. Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature. World J Clin Cases 2019; 7(24): 4355-4365 [PMID: 31911919 DOI: 10.12998/wjcc.v7.i24.4355] [Cited by in CrossRef: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
17 Nakamura H, O’donnell AM, Puri P. Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review. Pediatr Surg Int 2019;35:175-80. [DOI: 10.1007/s00383-018-4390-6] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
18 Collins RRJ, Barth B, Megison S, Pfeifer CM, Rice LM, Harris S, Timmons CF, Rakheja D. ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. Int J Surg Pathol 2019;27:77-83. [PMID: 30019982 DOI: 10.1177/1066896918786586] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
19 Xiong X, Li J, Liu C, Xu F. Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction-a case report. Transl Pediatr 2021;10:679-85. [PMID: 33880338 DOI: 10.21037/tp-20-316] [Reference Citation Analysis]
20 Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG. Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. Neurogastroenterol Motil 2018;30:e13371. [PMID: 29781137 DOI: 10.1111/nmo.13371] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
21 Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM. Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. Proc Natl Acad Sci U S A 2017;114:E2739-47. [PMID: 28292896 DOI: 10.1073/pnas.1620507114] [Cited by in Crossref: 54] [Cited by in F6Publishing: 49] [Article Influence: 10.8] [Reference Citation Analysis]
22 Maruyama H, Hasegawa Y, Sugibayashi R, Iwasaki Y, Fujino S, Amari S, Nagasawa J, Wada Y, Fujinaga H, Tsukamoto K, Tahara K, Yoshioka T, Ito Y, Sago H. Megacystis microcolon intestinal hypoperistalsis syndrome overlapping prune belly syndrome. Journal of Pediatric Surgery Case Reports 2018;34:54-7. [DOI: 10.1016/j.epsc.2018.05.008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
23 Katayama Y, Kido S, Kai S, Nakano T, Hidaka N, Kato K. Massive atonic bleeding during cesarean delivery in a patient with chronic idiopathic intestinal pseudo-obstruction: A case report and literature review. J Obstet Gynaecol Res 2020;46:2153-8. [PMID: 32748506 DOI: 10.1111/jog.14363] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]