197 related articles for article (PubMed ID: 17947298)
1. Alpha-cardiac actin mutations produce atrial septal defects.
Matsson H; Eason J; Bookwalter CS; Klar J; Gustavsson P; Sunnegårdh J; Enell H; Jonzon A; Vikkula M; Gutierrez I; Granados-Riveron J; Pope M; Bu'Lock F; Cox J; Robinson TE; Song F; Brook DJ; Marston S; Trybus KM; Dahl N
Hum Mol Genet; 2008 Jan; 17(2):256-65. PubMed ID: 17947298
[TBL] [Abstract][Full Text] [Related]
2. Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy.
Frank D; Yusuf Rangrez A; Friedrich C; Dittmann S; Stallmeyer B; Yadav P; Bernt A; Schulze-Bahr E; Borlepawar A; Zimmermann WH; Peischard S; Seebohm G; Linke WA; Baba HA; Krüger M; Unger A; Usinger P; Frey N; Schulze-Bahr E
Circ Genom Precis Med; 2019 Aug; 12(8):e002491. PubMed ID: 31430208
[TBL] [Abstract][Full Text] [Related]
3. Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
Greenway SC; McLeod R; Hume S; Roslin NM; Alvarez N; Giuffre M; Zhan SH; Shen Y; Preuss C; Andelfinger G; ; Jones SJ; Gerull B
Can J Cardiol; 2014 Feb; 30(2):181-7. PubMed ID: 24461919
[TBL] [Abstract][Full Text] [Related]
4. Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.
Khodyuchenko T; Zlotina A; Pervunina T; Zverev D; Malashicheva A; Kostareva A
Biomed Res Int; 2015; 2015():127807. PubMed ID: 25861618
[TBL] [Abstract][Full Text] [Related]
5. A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.
Wang Y; Du X; Zhou Z; Jiang J; Zhang Z; Ye L; Hong H
Sci Rep; 2016 May; 6():25404. PubMed ID: 27139165
[TBL] [Abstract][Full Text] [Related]
6. Mutational Assessment in
Nazeer NU; Bhat MA; Rah B; Bhat GR; Wani SI; Yousuf A; Dar AM; Afroze D
Int J Environ Res Public Health; 2022 Aug; 19(16):. PubMed ID: 36011517
[TBL] [Abstract][Full Text] [Related]
7. A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
Augière C; Mégy S; El Malti R; Boland A; El Zein L; Verrier B; Mégarbané A; Deleuze JF; Bouvagnet P
PLoS One; 2015; 10(6):e0127903. PubMed ID: 26061005
[TBL] [Abstract][Full Text] [Related]
8. Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG; Waldmuller S; Müller M; Scheffold T; Fournier D; Andrade-Navarro MA; De Geeter B; Guillaumont S; Dauphin C; Yousseff D; Schmitt KR; Perrot A; Berger F; Hetzer R; Bouvagnet P; Özcelik C
PLoS One; 2011; 6(12):e28872. PubMed ID: 22194935
[TBL] [Abstract][Full Text] [Related]
9. Mutation in myosin heavy chain 6 causes atrial septal defect.
Ching YH; Ghosh TK; Cross SJ; Packham EA; Honeyman L; Loughna S; Robinson TE; Dearlove AM; Ribas G; Bonser AJ; Thomas NR; Scotter AJ; Caves LS; Tyrrell GP; Newbury-Ecob RA; Munnich A; Bonnet D; Brook JD
Nat Genet; 2005 Apr; 37(4):423-8. PubMed ID: 15735645
[TBL] [Abstract][Full Text] [Related]
10. Reduced ACTC1 expression might play a role in the onset of congenital heart disease by inducing cardiomyocyte apoptosis.
Jiang HK; Qiu GR; Li-Ling J; Xin N; Sun KL
Circ J; 2010 Nov; 74(11):2410-8. PubMed ID: 20962418
[TBL] [Abstract][Full Text] [Related]
11. Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect.
Huang S; Wu Y; Chen S; Yang Y; Wang Y; Wang H; Li P; Zhuang J; Xia Y
Eur J Med Genet; 2021 Nov; 64(11):104314. PubMed ID: 34481090
[TBL] [Abstract][Full Text] [Related]
12. Variants in
Chong JX; Childers MC; Marvin CT; Marcello AJ; Gonorazky H; Hazrati LN; Dowling JJ; Al Amrani F; Alanay Y; Nieto Y; Gabriel MÁM; Aylsworth AS; Buckingham KJ; Shively KM; Sommers O; Anderson K; ; ; Regnier M; Bamshad MJ
HGG Adv; 2023 Jul; 4(3):100213. PubMed ID: 37457373
[TBL] [Abstract][Full Text] [Related]
13. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
Elliott DA; Kirk EP; Yeoh T; Chandar S; McKenzie F; Taylor P; Grossfeld P; Fatkin D; Jones O; Hayes P; Feneley M; Harvey RP
J Am Coll Cardiol; 2003 Jun; 41(11):2072-6. PubMed ID: 12798584
[TBL] [Abstract][Full Text] [Related]
14. A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.
Liu JJ; Fan LL; Chen JL; Tan ZP; Yang YF
J Zhejiang Univ Sci B; 2014 Sep; 15(9):830-7. PubMed ID: 25183037
[TBL] [Abstract][Full Text] [Related]
15. Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
Granados-Riveron JT; Ghosh TK; Pope M; Bu'Lock F; Thornborough C; Eason J; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour JA; David Brook J
Hum Mol Genet; 2010 Oct; 19(20):4007-16. PubMed ID: 20656787
[TBL] [Abstract][Full Text] [Related]
16. Ablation of Nkx2-5 at mid-embryonic stage results in premature lethality and cardiac malformation.
Terada R; Warren S; Lu JT; Chien KR; Wessels A; Kasahara H
Cardiovasc Res; 2011 Jul; 91(2):289-99. PubMed ID: 21285290
[TBL] [Abstract][Full Text] [Related]
17. Human Genetics of Atrial Septal Defect.
Larsen LA; Hitz MP
Adv Exp Med Biol; 2024; 1441():467-480. PubMed ID: 38884726
[TBL] [Abstract][Full Text] [Related]
18. A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes.
Rangrez AY; Kilian L; Stiebeling K; Dittmann S; Schulze-Bahr E; Frey N; Frank D
Biochem Biophys Res Commun; 2019 Oct; 518(3):500-505. PubMed ID: 31434612
[TBL] [Abstract][Full Text] [Related]
19. [Mutation of NKX2-5 gene in patients with atrial septal defect].
Liu XY; Yang YQ; Yang Y; Lin XP; Chen YH
Zhonghua Er Ke Za Zhi; 2009 Sep; 47(9):696-700. PubMed ID: 20021795
[TBL] [Abstract][Full Text] [Related]
20. NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.
Yang F; Zhou L; Wang Q; You X; Li Y; Zhao Y; Han X; Chang Z; He X; Cheng C; Wu C; Wang WJ; Hu FY; Zhao T; Li Y; Zhao M; Zheng GY; Dong J; Fan C; Yang J; Meng X; Zhang Y; Zhu X; Xiong J; Tian XL; Cao H
Cardiovasc Res; 2014 Jul; 103(2):228-37. PubMed ID: 24866383
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]