| Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy. | Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.
Ceron RH, Báez-Cruz FA, Palmer NJ, Carman PJ, Boczkowska M, Heuckeroth RO, Ostap EM, Dominguez R., Free PMC Article | 09/30/2024 |
| Analysis of the Regulatory Effect of ACTG2 on Biological Behavior of Bladder Cancer Cells Based on Database Screening. | 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. | 05/25/2023 |
| Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding. | Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding.
Krabek R, Smed VM, Oestergaard E, Sundberg K. | 03/3/2023 |
| Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature. | 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. | 01/11/2023 |
| Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. | 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. | 01/1/2022 |
| Expanding the genotypic spectrum of ACTG2-related visceral myopathy. | 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., Free PMC Article | 12/18/2021 |
| LINC01278 Sponges miR-500b-5p to Regulate the Expression of ACTG2 to Control Phenotypic Switching in Human Vascular Smooth Muscle Cells During Aortic Dissection. | 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., Free PMC Article | 10/30/2021 |
| Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. | 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., Free PMC Article | 07/24/2021 |
| Variants in the Enteric Smooth Muscle Actin gamma-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients. | 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. | 07/3/2021 |
| Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function. | Pseudo-obstruction-inducing ACTG2R257C alters actin organization and function.
Hashmi SK, Barka V, Yang C, Schneider S, Svitkina TM, Heuckeroth RO., Free PMC Article | 06/12/2021 |
| Studied Actin G2 gene variants in patients with Hirschsprung disease as a possible molecular basis for abnormal smooth muscle function. | 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. | 02/8/2020 |
| mutations represent a significant underlying cause of primary chronic intestinal pseudo-obstruction with visceral myopathy and associated phenotypes in Australasian patients. | Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
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. | 11/9/2019 |
| fetus with intestinal pseudo-obstruction heterozygous for p.R63G pathogenic variant (NM_001615.3 c.187C>G; rs864309491) in exon 3 | Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.
Milunsky A, Lazier J, Baldwin C, Young C, Primack D, Milunsky JM. | 10/27/2018 |
| Whole exome and Sanger sequencing revealed a pathogenic variant in the ACTG2 gene in 4 out of 28 probands with chronic intestinal pseudo-obstruction and megacystis. Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident. | Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.
Milunsky A, Baldwin C, Zhang X, Primack D, Curnow A, Milunsky J., Free PMC Article | 04/28/2018 |
| R257 variant in the ACTG2 appear to be more frequent in populations of Asian ancestry; mutation of this locus could cause alterations of the intestinal and bladder smooth muscle filaments. | Mutation in Actin γ-2 Responsible for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in 4 Chinese Patients.
Lu W, Xiao Y, Huang J, Tao Y, Yan W, Lu L, Cao Y, Cai W. | 12/30/2017 |
| ACTG2 boosts the metastatic potential of hepatocellular carcinoma in a Notch1-dependent manner. | Identification of ACTG2 functions as a promoter gene in hepatocellular carcinoma cells migration and tumor metastasis.
Wu Y, Liu ZG, Shi MQ, Yu HZ, Jiang XY, Yang AH, Fu XS, Xu Y, Yang S, Ni H, Shen SJ, Li WD. | 09/2/2017 |
| Missense variants in ACTG2 were identified in the patients with either megacystis-microcolon-intestinal hypoperistalsis syndrome or intestinal pseudo-obstruction. | Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.
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., Free PMC Article | 07/29/2017 |
| A heterozygous missense variant in ACTG2 was identified that impaired actin polymerization in sporadic Megacystis microcolon intestinal hypoperistalsis syndrome. | ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
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. | 12/17/2016 |
| ACTG2 is expressed in a fraction of small intestinal neuroendocrine tumors, can inhibit cell growth in vitro, and is positively regulated by miR-145. | A plausible role for actin gamma smooth muscle 2 (ACTG2) in small intestinal neuroendocrine tumorigenesis.
Edfeldt K, Hellman P, Westin G, Stalberg P., Free PMC Article | 10/22/2016 |
| Mutations within ACTG2 are associated with fetal megacystis in microcolon intestinal hypoperistalsis syndrome. | New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X, LeDuc CA, Guo J, Wilson A, Mills A, Glassberg K, Rotterdam H, Sepulveda AR, Zeng W, Chung WK, Anyane-Yeboa K. | 10/22/2016 |
| Phenotypic spectrum of ACTG2 missense variants involved severe pathology in multiple smooth muscle-dependent organs including the biliary tract and the uterus in the family with visceral myopathy. | Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.
Klar J, Raykova D, Gustafson E, Tóthová I, Ameur A, Wanders A, Dahl N., Free PMC Article | 08/27/2016 |
| gammaSMA expression in hepatocellular carcinoma is strongly correlated with the EMT process, HCC aggressiveness and the identification of cancer stem cells | Gamma-smooth muscle actin expression is associated with epithelial-mesenchymal transition and stem-like properties in hepatocellular carcinoma.
Benzoubir N, Mussini C, Lejamtel C, Dos Santos A, Guillaume C, Desterke C, Samuel D, Bréchot C, Bourgeade MF, Guettier C., Free PMC Article | 04/30/2016 |
| ACTG2 encodes g2 enteric actin and is the first gene to be clearly associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome, suggesting an important role for contractile proteins in enteric smooth muscle disease. | Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
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., Free PMC Article | 11/29/2014 |
| Two novel mutations in the ACTG2 gene, p.R178L and p.R178C, have been identified in two unrelated children with congenital distended bladder, microcolon, and intestinal hypoperistalsis (MMIHS). | De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M. | 06/28/2014 |
| The R148S variant in ACTG2 as a cause of autosomal dominant familial visceral myopathy in one family. | Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.
Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Järvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S. | 04/6/2013 |