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For: 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]
Number Citing Articles
1 Lupski JR, Liu P, Stankiewicz P, Carvalho CMB, Posey JE. Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn 2020;20:995-1002. [PMID: 32954863 DOI: 10.1080/14737159.2020.1826312] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
2 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]
3 Ignasiak-Budzyńska K, Danko M, Książyk J. Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene. Case Rep Gastrointest Med 2021;2021:6612983. [PMID: 33859849 DOI: 10.1155/2021/6612983] [Reference Citation Analysis]
4 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]
5 Kapur RP, Goldstein AM, Loeff DS, Myers CT, Paschal CR. Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature. Pediatr Dev Pathol 2022;:10935266221107449. [PMID: 35695198 DOI: 10.1177/10935266221107449] [Reference Citation Analysis]
6 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]
7 Hashmi SK, Barka V, Yang C, Schneider S, Svitkina TM, Heuckeroth RO. Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function. JCI Insight 2020;5:140604. [PMID: 32814715 DOI: 10.1172/jci.insight.140604] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
8 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]
9 Liu K, Lu L, Chen S, Gu B, Cai H, Wang Y, Cai W. Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation. FASEB J 2022;36:e22194. [PMID: 35170814 DOI: 10.1096/fj.202101395R] [Reference Citation Analysis]
10 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]
11 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: 7] [Cited by in F6Publishing: 1] [Article Influence: 7.0] [Reference Citation Analysis]
12 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] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
13 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]
14 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]