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Year Number of Results
2019 4
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2023 10
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Integrated mutational landscape analysis of uterine leiomyosarcomas.
Choi J, Manzano A, Dong W, Bellone S, Bonazzoli E, Zammataro L, Yao X, Deshpande A, Zaidi S, Guglielmi A, Gnutti B, Nagarkatti N, Tymon-Rosario JR, Harold J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Jeong K, Zhao S, Buza N, Hui P, Ravaggi A, Bignotti E, Romani C, Todeschini P, Zanotti L, Odicino F, Pecorelli S, Ardighieri L, Bilguvar K, Quick CM, Silasi DA, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Imielinski M, Schwartz PE, Alexandrov LB, Lifton RP, Schlessinger J, Santin AD. Choi J, et al. Proc Natl Acad Sci U S A. 2021 Apr 13;118(15):e2025182118. doi: 10.1073/pnas.2025182118. Proc Natl Acad Sci U S A. 2021. PMID: 33876771 Free PMC article.
Uterine leiomyosarcomas (uLMS) are aggressive tumors arising from the smooth muscle layer of the uterus. We analyzed 83 uLMS sample genetics, including 56 from Yale and 27 from The Cancer Genome Atlas (TCGA). ...Fusions involving tumor suppressors or oncogenes were …
Uterine leiomyosarcomas (uLMS) are aggressive tumors arising from the smooth muscle layer of the uterus. We analyzed 83 uLMS s …
The complexity and diversity of the actin cytoskeleton of trypanosomatids.
Vizcaíno-Castillo A, Osorio-Méndez JF, Ambrosio JR, Hernández R, Cevallos AM. Vizcaíno-Castillo A, et al. Mol Biochem Parasitol. 2020 May;237:111278. doi: 10.1016/j.molbiopara.2020.111278. Epub 2020 Apr 28. Mol Biochem Parasitol. 2020. PMID: 32353561 Review.
In addition to these canonical proteins, also encode for an expanded set of actins and actin-like proteins that seem to be restricted to kinetoplastids. ...Experimental characterization has been done for only a few of the trypanosomatid actins and actin …
In addition to these canonical proteins, also encode for an expanded set of actins and actin-like proteins that seem to be res …
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Viti F, De Giorgio R, Ceccherini I, Ahluwalia A, Alves MM, Baldo C, Baldussi G, Bonora E, Borrelli O, Dall'Oglio L, De Coppi P, De Filippo C, de Santa Barbara P, Diamanti A, Di Lorenzo C, Di Maulo R, Galeone A, Gandullia P, Hashmi SK, Lacaille F, Lancon L, Leone S, Mahé MM, Molnar MJ, Palmitelli A, Perin S, Prato AP, Thapar N, Vassalli M, Heuckeroth RO. Viti F, et al. Dig Dis Sci. 2023 Oct;68(10):3857-3871. doi: 10.1007/s10620-023-08066-1. Epub 2023 Aug 31. Dig Dis Sci. 2023. PMID: 37650948 Free PMC article. Review.
Clinical and Pathological Features of Severe Gut Dysmotility.
Bianco F, Bonora E, Lattanzio G, Clavenzani P, Guarino M, Mazzoni M, Baldassarro VA, Lorenzini L, Caio G, Stanghellini V, Sternini C, Farrugia G, Giardino L, Calzà L, De Giorgio R. Bianco F, et al. Adv Exp Med Biol. 2022;1383:9-17. doi: 10.1007/978-3-031-05843-1_2. Adv Exp Med Biol. 2022. PMID: 36587142
Chronic intestinal pseudo-obstruction (CIPO) is a typical clinical phenotype of severe gut dysmotility due to morphological and functional alterations of the intrinsic (enteric) innervation and extrinsic nerve supply (hence neuropathy), interstitial cells of Cajal (ICCs) (mesench …
Chronic intestinal pseudo-obstruction (CIPO) is a typical clinical phenotype of severe gut dysmotility due to morphological and functional a …
Heterozygous Actg2(R257C) mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.
Cai H, Xiao Y, Chen S, Lu Y, Du J, You Y, Zhu J, Zhou J, Cai W, Wang Y. Cai H, et al. Neurogastroenterol Motil. 2023 Jan;35(1):e14472. doi: 10.1111/nmo.14472. Epub 2022 Oct 20. Neurogastroenterol Motil. 2023. PMID: 36264152
Gastrointestinal (GI) motility, voluntary urination, collagen gel contraction, and G-actin/F-actin analysis were performed. KEY RESULTS: The R257C variant of ACTG2 most frequently occurred in patients with MMIHS and demonstrated the typical symptoms of MMIHS. …
Gastrointestinal (GI) motility, voluntary urination, collagen gel contraction, and G-actin/F-actin analysis were performed. KE …
Actin-like Protein 6A Expression Correlates with Cancer Stem Cell-like Features and Poor Prognosis in Ovarian Cancer.
Chen PM, Wong CN, Wong CN, Chu PY. Chen PM, et al. Int J Mol Sci. 2023 Jan 19;24(3):2016. doi: 10.3390/ijms24032016. Int J Mol Sci. 2023. PMID: 36768349 Free PMC article.
The expression levels of 11 genetic markers were significantly elevated in highly invasive and chemoresistant ovarian cancer. The expression of Actin-like protein 6A (ACTL6A) was found to be correlated with survival prognosis, and the total survival time of t …
The expression levels of 11 genetic markers were significantly elevated in highly invasive and chemoresistant ovarian cancer. The expression …
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.
Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or without urinary system involvement. Pathogenic missense variation in smooth muscle gamma-actin gene (ACTG2) is associa …
Visceral myopathies (VMs) encompass a spectrum of disorders characterized by chronic disruption of gastrointestinal function, with or withou …
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.
Actin gamma 2, smooth muscle (ACTG2) R257C mutation is the most common genetic cause of visceral myopathy. ...Our goal was to characterize the effects of ACTG2R257C on actin organization and function in visceral smooth muscle cells …
Actin gamma 2, smooth muscle (ACTG2) R257C mutation is the most common genetic cause of visceral myopathy. ...Ou …
Generation of CHOPe003-A ESC line to study an ACTG2 variant affecting smooth muscle development and function.
Hashmi SK, Schneider S, Gagne AL, Maguire JA, Anderson S, Gadue P, Heuckeroth RO, French DL. Hashmi SK, et al. Stem Cell Res. 2023 Sep;71:103186. doi: 10.1016/j.scr.2023.103186. Epub 2023 Aug 22. Stem Cell Res. 2023. PMID: 37643495 Free PMC article.
The most common genetic cause of visceral myopathy is a heterozygous point mutation (R257C) in gamma smooth muscle actin (ACTG2). We genetically modified the WAe0009-A human embryonic stem cell line to carry the c.769C>T p.R257C/+ mutation. This cel …
The most common genetic cause of visceral myopathy is a heterozygous point mutation (R257C) in gamma smooth muscle actin …
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-2 (ACTG2 …
OBJECTIVES: Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal disorder occurring in children, leading to failure t …
41 results