BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 38316882)

  • 1. Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model.
    Sebastian WA; Inoue M; Shimizu N; Sato R; Oguri S; Itonaga T; Kishimoto S; Shiraishi H; Hanada T; Ihara K
    J Hum Genet; 2024 Apr; 69(3-4):133-138. PubMed ID: 38316882
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
    Kaw A; Kaw K; Hostetler EM; Beleza-Meireles A; Smith-Collins A; Armstrong C; Scurr I; Cotts T; Aatre R; Bamshad MJ; Earl D; Groner A; Agre K; Raveh Y; Kwartler CS; Milewicz DM
    Am J Med Genet A; 2022 Aug; 188(8):2389-2396. PubMed ID: 35567597
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Smooth Muscle-Alpha Actin R149C Pathogenic Variant Downregulates Integrin Recruitment at Cell-Matrix Adhesions and Decreases Cellular Contractility.
    Ojha KR; Kim H; Padgham S; Hopkins L; Zamen RJ; Chattopadhyay A; Han G; Milewicz DM; Massett MP; Trache A
    Int J Mol Sci; 2023 Jun; 24(11):. PubMed ID: 37298565
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Nuclear Smooth Muscle α-actin in Vascular Smooth Muscle Cell Differentiation.
    Kwartler CS; Pedroza AJ; Kaw A; Guan P; Ma S; Duan XY; Kernell C; Wang C; Pinelo JEE; Borthwick MS; Chen J; Zhong Y; Sinha S; Shen X; Fischbein MP; Milewicz DM
    Res Sq; 2023 Feb; ():. PubMed ID: 36909460
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nuclear Smooth Muscle α-actin Participates in Vascular Smooth Muscle Cell Differentiation.
    Kwartler CS; Pedroza AJ; Kaw A; Guan P; Ma S; Duan XY; Kernell C; Wang C; Pinelo JEE; Bowen MSB; Chen J; Zhong Y; Sinha S; Shen X; Fischbein MP; Milewicz DM
    Nat Cardiovasc Res; 2023 Oct; 2(10):937-955. PubMed ID: 38919852
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Resistance of Acta2
    Chen J; Kaw K; Lu H; Fagnant PM; Chattopadhyay A; Duan XY; Zhou Z; Ma S; Liu Z; Huang J; Kamm K; Stull JT; Kwartler CS; Trybus KM; Milewicz DM
    J Biol Chem; 2021 Dec; 297(6):101228. PubMed ID: 34600884
    [TBL] [Abstract][Full Text] [Related]  

  • 7. European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
    van de Laar IMBH; Arbustini E; Loeys B; Björck E; Murphy L; Groenink M; Kempers M; Timmermans J; Roos-Hesselink J; Benke K; Pepe G; Mulder B; Szabolcs Z; Teixidó-Turà G; Robert L; Emmanuel Y; Evangelista A; Pini A; von Kodolitsch Y; Jondeau G; De Backer J
    Orphanet J Rare Dis; 2019 Nov; 14(1):264. PubMed ID: 31752940
    [TBL] [Abstract][Full Text] [Related]  

  • 8. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.
    Richer J; Milewicz DM; Gow R; de Nanassy J; Maharajh G; Miller E; Oppenheimer L; Weiler G; O'Connor M
    Am J Med Genet A; 2012 Mar; 158A(3):664-8. PubMed ID: 22302747
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts.
    Liu Z; Chang AN; Grinnell F; Trybus KM; Milewicz DM; Stull JT; Kamm KE
    Proc Natl Acad Sci U S A; 2017 Jul; 114(28):E5569-E5578. PubMed ID: 28652363
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
    Logeswaran T; Friedburg C; Hofmann K; Akintuerk H; Biskup S; Graef M; Rad A; Weber A; Neubauer BA; Schranz D; Bouvagnet P; Lorenz B; Hahn A
    Am J Med Genet A; 2017 Apr; 173(4):959-965. PubMed ID: 28328125
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.
    Burger J; Bogunovic N; de Wagenaar NP; Liu H; van Vliet N; IJpma A; Maugeri A; Micha D; Verhagen HJM; Ten Hagen TLM; Majoor-Krakauer D; van der Pluijm I; Essers J; Yeung KK
    Hum Mol Genet; 2021 Nov; 30(23):2286-2299. PubMed ID: 34244757
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.
    Georgescu MM; Pinho Mda C; Richardson TE; Torrealba J; Buja LM; Milewicz DM; Raisanen JM; Burns DK
    Acta Neuropathol Commun; 2015 Dec; 3():81. PubMed ID: 26637293
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation.
    Morita S; Yamaguchi K; Akagawa H; Ishikawa T; Funatsu T; Eguchi S; Ishikawa T; Niwa A; Nonaka T; Kawamata T
    J Stroke Cerebrovasc Dis; 2022 Sep; 31(9):106402. PubMed ID: 35248443
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An α-smooth muscle actin (acta2/αsma) zebrafish transgenic line marking vascular mural cells and visceral smooth muscle cells.
    Whitesell TR; Kennedy RM; Carter AD; Rollins EL; Georgijevic S; Santoro MM; Childs SJ
    PLoS One; 2014; 9(3):e90590. PubMed ID: 24594685
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Aortic Dissection and a Previously Unreported
    Marutani S; Nishino T; Shimokawa O; Pooh RK; Morisaki H; Inamura N
    Pediatr Dev Pathol; 2023; 26(5):494-498. PubMed ID: 37672683
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The natural history of a family with aortic dissection associated with a novel ACTA2 variant.
    Delsart P; Vanlerberghe C; Juthier F; Sobocinski J; Domanski O; Longere B; Hanna N; Arnaud P; Marsili L
    Ann Vasc Surg; 2021 Nov; 77():348.e7-348.e11. PubMed ID: 34437965
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD).
    Diness BR; Palmquist RN; Norling R; Hove H; Bundgaard H; Hertz JM; Kondziella D; Krieger D; Dunø M; Grønborg S
    J Neurol Sci; 2020 Aug; 415():116897. PubMed ID: 32464348
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
    Guo DC; Papke CL; Tran-Fadulu V; Regalado ES; Avidan N; Johnson RJ; Kim DH; Pannu H; Willing MC; Sparks E; Pyeritz RE; Singh MN; Dalman RL; Grotta JC; Marian AJ; Boerwinkle EA; Frazier LQ; LeMaire SA; Coselli JS; Estrera AL; Safi HJ; Veeraraghavan S; Muzny DM; Wheeler DA; Willerson JT; Yu RK; Shete SS; Scherer SE; Raman CS; Buja LM; Milewicz DM
    Am J Hum Genet; 2009 May; 84(5):617-27. PubMed ID: 19409525
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".
    Kwartler CS; Gong L; Chen J; Wang S; Kulmacz R; Duan XY; Janda A; Huang J; Kamm KE; Stull JT; Guo D; Milewicz DM
    Am J Hum Genet; 2018 Jul; 103(1):138-143. PubMed ID: 29961567
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study.
    Demolder A; Bianco L; Caruana M; Cervi E; Evangelista A; Jondeau G; Buttigieg LL; López-Sainz Á; Delmás EM; Pini A; Sabaté-Rotés A; Szöcs K; Tchitchinadze M; Teixidó-Tura G; von Kodolitsch Y; Muiño-Mosquera L; De Backer J
    Eur J Med Genet; 2022 Jun; 65(6):104503. PubMed ID: 35427808
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.