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Variants in the Enteric Smooth Muscle Actin gamma-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
OBJECTIVES: Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal disorder occurring in children, leading to failure to thrive, malnutrition, and long-term parenteral nutrition dependence. Enteric smooth muscle actin gamma- …
OBJECTIVES: Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal disorder occurring in children, leading to failure t …
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview.
Ambartsumyan L. Ambartsumyan L. 2019 May 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 May 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31070878 Free Books & Documents. Review.
The following are the goals of this overview. GOAL 1: Describe the clinical characteristics of MMIHS. GOAL 2: Review the genetic causes of MMIHS. GOAL 3: Provide an evaluation strategy to identify the genetic cause of MMIHS in a proband (when possible). ...
The following are the goals of this overview. GOAL 1: Describe the clinical characteristics of MMIHS. GOAL 2: Review the genetic caus …
Segregation of a missense variant in enteric smooth muscle actin gamma-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. Lehtonen HJ, et al. Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6. Gastroenterology. 2012. PMID: 22960657
A heterozygous variant, R148S in enteric smooth muscle actin gamma-2 (ACTG2), segregated with disease phenotype. ...The altered ACTG2 protein appears to aggregate, rather than form actin filaments, in intestinal sm …
A heterozygous variant, R148S in enteric smooth muscle actin gamma-2 (ACTG2), segregated wi …
Recurrent ACTG2 gene variation in African degenerative visceral leiomyopathy.
Maluleke T, Mangray H, Arnold M, Moore HA, Moore SW. Maluleke T, et al. Pediatr Surg Int. 2019 Apr;35(4):439-442. doi: 10.1007/s00383-018-4367-5. Epub 2018 Nov 15. Pediatr Surg Int. 2019. PMID: 30430282
The Actin G2 gene is the main gene encoding smooth muscle actin found in enteric tissues. ...CONCLUSIONS: Recurrent Actin G2 smooth muscle gene variation in African degenerative visceral leiomyopathy is associated with abnor …
The Actin G2 gene is the main gene encoding smooth muscle actin found in enteric tissues. ...CONCLUSIONS: …
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. Halim D, et al. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647307
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in the Enteric Smooth Muscle actin gamma-2 (ACTG2) gene have been recently identified. ...In a …
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in …
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
Gastrointestinal motility requires intact muscular layers as well as neural network connection to function properly. The Actin G2 gene is the main gene encoding actin gamma 2; a smooth muscle actin found in enteric tissues. …
Gastrointestinal motility requires intact muscular layers as well as neural network connection to function properly. The Actin G2 gen …
Patient's dermal fibroblasts as disease markers for visceral myopathy.
Viti F, Pramotton FM, Martufi M, Magrassi R, Pedemonte N, Nizzari M, Zanacchi FC, De Michele B, Alampi M, Zambito M, Santamaria G, Bajetto A, Sardar S, Tomati V, Gandullia P, Giampietro C, Florio T, Beltrame F, Vassalli M, Ceccherini I. Viti F, et al. Biomater Adv. 2023 May;148:213355. doi: 10.1016/j.bioadv.2023.213355. Epub 2023 Feb 23. Biomater Adv. 2023. PMID: 36893487 Free article.
The most prevalent form of VSCM is associates with variants in the gene ACTG2, encoding the protein gamma-2 actin. Overall, VSCM is a mechano-biological disorder, in which different genetic variants lead to similar alterations to the contractile phenot …
The most prevalent form of VSCM is associates with variants in the gene ACTG2, encoding the protein gamma-2 actin …
Investigation of gastrointestinal injury-related biomarkers in dairy cattle with displaced abomasum.
Ider M, Yildiz R, Naseri A, Gülersoy E, Alkan F, Ok M, Erturk A, Sulu K, Durgut MK. Ider M, et al. Vet Med Sci. 2023 Nov;9(6):2893-2900. doi: 10.1002/vms3.1292. Epub 2023 Sep 30. Vet Med Sci. 2023. PMID: 37776262 Free PMC article.
METHODS: Forty-eight DA (24 LDA, 24 RDA) and 15 healthy Holstein dairy cows were enrolled between March 2021 and July 2022. Serum biomarkers including gamma-enteric smooth muscle actin (ACTG-2), liver-fatty acid binding proteins (L-FABP), …
METHODS: Forty-eight DA (24 LDA, 24 RDA) and 15 healthy Holstein dairy cows were enrolled between March 2021 and July 2022. Serum biomarkers …
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.
Collins RRJ, Barth B, Megison S, Pfeifer CM, Rice LM, Harris S, Timmons CF, Rakheja D. Collins RRJ, et al. Int J Surg Pathol. 2019 Feb;27(1):77-83. doi: 10.1177/1066896918786586. Epub 2018 Jul 18. Int J Surg Pathol. 2019. PMID: 30019982 Free PMC article.
Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 ( ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstru …
Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin …
Use of intestine-related biomarkers for detecting intestinal epithelial damage in neonatal calves with diarrhea.
Ok M, Yildiz R, Hatipoglu F, Baspinar N, Ider M, Üney K, Ertürk A, Durgut MK, Terzi F. Ok M, et al. Am J Vet Res. 2020 Feb;81(2):139-146. doi: 10.2460/ajvr.81.2.139. Am J Vet Res. 2020. PMID: 31985285 Free article.
Results of hematologic analyses and serum concentrations of intestinal fatty acid-binding protein (I-FABP), liver fatty acid-binding protein (L-FABP), trefoil factor 3 (TFF-3), Claudin-3 (CLDN-3), gamma-enteric smooth muscle actin (ACTG2) …
Results of hematologic analyses and serum concentrations of intestinal fatty acid-binding protein (I-FABP), liver fatty acid-binding protein …
11 results