PubMed (GeneRIF) for id: 72

Year	Number of Results
2002	1
2003	1
2006	1
2007	2
2008	1
2009	1
2012	2
2013	1
2014	2
2015	4
2016	4
2017	3
2018	1
2019	2
2020	3
2021	4
2022	2
2023	1
2024	0

1

Analysis of the Regulatory Effect of ACTG2 on Biological Behavior of Bladder Cancer Cells Based on Database Screening.

Liu H, Xiang P, Miao W, Liu H, Shen H, Xue S. Liu H, et al. Cell Mol Biol (Noisy-le-grand). 2023 Jan 31;69(1):125-130. doi: 10.14715/cmb/2022.69.1.22. Cell Mol Biol (Noisy-le-grand). 2023. PMID: 37213144

2

Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding.

Krabek R, Smed VM, Oestergaard E, Sundberg K. Krabek R, et al. Fetal Diagn Ther. 2022;49(11-12):491-495. doi: 10.1159/000528625. Epub 2022 Dec 12. Fetal Diagn Ther. 2022. PMID: 36509086

3

Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.

Kapur RP, Goldstein AM, Loeff DS, Myers CT, Paschal CR. Kapur RP, et al. Pediatr Dev Pathol. 2022 Nov-Dec;25(6):581-597. doi: 10.1177/10935266221107449. Epub 2022 Jun 12. Pediatr Dev Pathol. 2022. PMID: 35695198 Review.

4

LINC01278 Sponges miR-500b-5p to Regulate the Expression of ACTG2 to Control Phenotypic Switching in Human Vascular Smooth Muscle Cells During Aortic Dissection.

Wang W, Liu Q, Wang Y, Piao H, Zhu Z, Li D, Wang T, Liu K. Wang W, et al. J Am Heart Assoc. 2021 May 4;10(9):e018062. doi: 10.1161/JAHA.120.018062. Epub 2021 Apr 29. J Am Heart Assoc. 2021. PMID: 33910387 Free PMC article.

5

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.

James KN, Lau M, Shayan K, Lenberg J, Mardach R, Ignacio R Jr, Halbach J, Choi L, Kumar S, Ellsworth KA. James KN, et al. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a006085. doi: 10.1101/mcs.a006085. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 33883208 Free PMC article.

6

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.

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. Matera I, et al. Clin Genet. 2021 Mar;99(3):430-436. doi: 10.1111/cge.13895. Epub 2020 Dec 14. Clin Genet. 2021. PMID: 33294969

7

Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function.

Hashmi SK, Barka V, Yang C, Schneider S, Svitkina TM, Heuckeroth RO. Hashmi SK, et al. JCI Insight. 2020 Aug 20;5(16):e140604. doi: 10.1172/jci.insight.140604. JCI Insight. 2020. PMID: 32814715 Free PMC article.

8

Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients.

Wei Z, Lu L, Zheng Y, Yan W, Tao Y, Xiao Y, Cai W, Wang Y. Wei Z, et al. J Pediatr Gastroenterol Nutr. 2021 Jan 1;72(1):36-42. doi: 10.1097/MPG.0000000000002897. J Pediatr Gastroenterol Nutr. 2021. PMID: 32810037

9

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

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; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Assia Batzir N, et al. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31769566 Free PMC article.

10

Is Hirschsprung disease a purely neurological condition? A study of the Actin G2 smooth muscle gene in Hirschsprung disease.

Moore SW, Maluleke T, El Hosny AA. Moore SW, et al. J Pediatr Surg. 2019 Oct;54(10):2028-2031. doi: 10.1016/j.jpedsurg.2019.01.069. Epub 2019 Mar 1. J Pediatr Surg. 2019. PMID: 30885557

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