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For: 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. Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. Eur J Hum Genet 2016;24:1211-5. [PMID: 26813947 DOI: 10.1038/ejhg.2015.275] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 4.0] [Reference Citation Analysis]
Number Citing Articles
1 Nurko S. Motility Disorders in Children. Pediatric Clinics of North America 2017;64:593-612. [DOI: 10.1016/j.pcl.2017.01.011] [Cited by in Crossref: 12] [Cited by in F6Publishing: 7] [Article Influence: 2.4] [Reference Citation Analysis]
2 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]
3 Hahn JW, Moon SY, Kim MS, Woo MH, Sohn MJ, Kim HY, Seong MW, Park SS, Park SH, Moon JS, Ko JS. ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis. J Neurogastroenterol Motil 2022;28:104-10. [PMID: 34980693 DOI: 10.5056/jnm20243] [Reference Citation Analysis]
4 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]
5 James KN, Lau M, Shayan K, Lenberg J, Mardach R, Ignacio R Jr, Halbach J, Choi L, Kumar S, Ellsworth KA. Expanding the genotypic spectrum of ACTG2-related visceral myopathy. Cold Spring Harb Mol Case Stud 2021;7:a006085. [PMID: 33883208 DOI: 10.1101/mcs.a006085] [Reference Citation Analysis]
6 Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet 2017;101:123-9. [PMID: 28602422 DOI: 10.1016/j.ajhg.2017.05.011] [Cited by in Crossref: 35] [Cited by in F6Publishing: 30] [Article Influence: 7.0] [Reference Citation Analysis]
7 Brosens E, Burns AJ, Brooks AS, Matera I, Borrego S, Ceccherini I, Tam PK, García-Barceló MM, Thapar N, Benninga MA, Hofstra RM, Alves MM. Genetics of enteric neuropathies. Dev Biol 2016;417:198-208. [PMID: 27426273 DOI: 10.1016/j.ydbio.2016.07.008] [Cited by in Crossref: 30] [Cited by in F6Publishing: 24] [Article Influence: 5.0] [Reference Citation Analysis]
8 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]
9 Moore SW, Maluleke T, El Hosny AA. Is Hirschsprung disease a purely neurological condition? A study of the Actin G2 smooth muscle gene in Hirschsprung disease. J Pediatr Surg 2019;54:2028-31. [PMID: 30885557 DOI: 10.1016/j.jpedsurg.2019.01.069] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
10 Huang J, Liu F, Wang B, Tang H, Teng Z, Li L, Qiu Y, Wu H, Chen J. Central and Peripheral Changes in FOS Expression in Schizophrenia Based on Genome-Wide Gene Expression. Front Genet 2019;10:232. [PMID: 30967896 DOI: 10.3389/fgene.2019.00232] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
11 Wei Z, Lu L, Zheng Y, Yan W, Tao Y, Xiao Y, Cai W, Wang Y. Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients. J Pediatr Gastroenterol Nutr 2021;72:36-42. [PMID: 32810037 DOI: 10.1097/MPG.0000000000002897] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
12 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]
13 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]
14 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]
15 Rossi V, Mosconi M, Nozza P, Murgia D, Mattioli G, Ceccherini I, Pini Prato A. Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation. Am J Med Genet A 2016;170:2400-3. [PMID: 27273837 DOI: 10.1002/ajmg.a.37787] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
16 Wymer KM, Anderson BB, Wilkens AA, Gundeti MS. Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. Journal of Pediatric Surgery 2016;51:1565-73. [DOI: 10.1016/j.jpedsurg.2016.06.011] [Cited by in Crossref: 22] [Cited by in F6Publishing: 15] [Article Influence: 3.7] [Reference Citation Analysis]
17 Hardesty JE, Warner JB, Song YL, Rouchka EC, McClain CJ, Warner DR, Kirpich IA. Ileum Gene Expression in Response to Acute Systemic Inflammation in Mice Chronically Fed Ethanol: Beneficial Effects of Elevated Tissue n-3 PUFAs. Int J Mol Sci 2021;22:1582. [PMID: 33557303 DOI: 10.3390/ijms22041582] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
18 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]
19 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]
20 Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky J. Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. J Pediatr Gastroenterol Nutr 2017;65:384-7. [PMID: 28422808 DOI: 10.1097/MPG.0000000000001608] [Cited by in Crossref: 21] [Cited by in F6Publishing: 8] [Article Influence: 5.3] [Reference Citation Analysis]
21 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]
22 Maluleke T, Mangray H, Arnold M, Moore HA, Moore SW. Recurrent ACTG2 gene variation in African degenerative visceral leiomyopathy. Pediatr Surg Int 2019;35:439-42. [DOI: 10.1007/s00383-018-4367-5] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]