NKX2-6 mutation predisposes to familial atrial fibrillation
- Authors:
- Jun Wang
- Dai-Fu Zhang
- Yu-Min Sun
- Ruo-Gu Li
- Xing-Biao Qiu
- Xin-Kai Qu
- Xu Liu
- Wei-Yi Fang
- Yi-Qing Yang
-
Affiliations: Department of Cardiology, East Hospital, Tongji University School of Medicine, Shanghai 200120, P.R. China, Department of Cardiology, Jing-An District Central Hospital, Shanghai 200040, P.R. China, Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China - Published online on: October 16, 2014 https://doi.org/10.3892/ijmm.2014.1971
- Pages: 1581-1590
This article is mentioned in:
Abstract
Fuster V, Rydén LE, Cannom DS, Crijns HJ, Curtis AB, Ellenbogen KA, Halperin JL, Kay GN, Le Huezey JY, Lowe JE, Olsson SB, Prystowsky EN, Tamargo JL, Wann LS, Smith SC Jr, Priori SG, Estes NA III, Ezekowitz MD, Jackman WM, January CT, Lowe JE, Page RL, Slotwiner DJ, Stevenson WG, Tracy CM, Jacobs AK, Anderson JL, Albert N, Buller CE, Creager MA, Ettinger SM, Guyton RA, Halperin JL, Hochman JS, Kushner FG, Ohman EM, Stevenson WG, Tarkington LG and Yancy CW: American College of Cardiology Foundation/American Heart Association Task Force: 2011 ACCF/AHA/HRS focused updates incorporated into the ACC/AHA/ESC 2006 guidelines for the management of patients with atrial fibrillation: a report of the American College of Cardiology Foundation/American Heart Association Task Force on practice guidelines. Circulation. 123:e269–e367. 2011. | |
Go AS, Hylek EM, Phillips KA, Chang Y, Henault LE, Selby JV and Singer DE: Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study. JAMA. 285:2370–2375. 2001. View Article : Google Scholar : PubMed/NCBI | |
Lloyd-Jones DM, Wang TJ, Leip EP, Larson MG, Levy D, Vasan RS, D’Agostino RB, Massaro JM, Beiser A, Wolf PA and Benjamin EJ: Lifetime risk for development of atrial fibrillation: the Framingham Heart Study. Circulation. 110:1042–1046. 2004. View Article : Google Scholar : PubMed/NCBI | |
Miyasaka Y, Barnes ME, Gersh BJ, Cha SS, Bailey KR, Abhayaratna WP, Seward JB and Tsang TS: Secular trends in incidence of atrial fibrillation in Olmsted County, Minnesota, 1980 to 2000, and implications on the projections for future prevalence. Circulation. 114:119–125. 2006. View Article : Google Scholar : PubMed/NCBI | |
Benjamin EJ, Wolf PA, D’Agostino RB, Silbershatz H, Kannel WB and Levy D: Impact of atrial fibrillation on the risk of death: the Framingham Heart Study. Circulation. 98:946–952. 1998. View Article : Google Scholar : PubMed/NCBI | |
Wolf PA, Abbott RD and Kannel WB: Atrial fibrillation as an independent risk factor for stroke: the Framingham Study. Stroke. 22:983–988. 1991. View Article : Google Scholar : PubMed/NCBI | |
Singh SN, Tang XC, Singh BN, Dorian P, Reda DJ, Harris CL, Fletcher RD, Sharma SC, Atwood JE, Jacobson AK, Lewis HD Jr, Lopez B, Raisch DW and Ezekowitz MD: SAFE-T Investigators: Quality of life and exercise performance in patients in sinus rhythm versus persistent atrial fibrillation: a Veterans Affairs Cooperative Studies Program Substudy. J Am Coll Cardiol. 48:721–730. 2006. View Article : Google Scholar | |
Santangeli P, Di Biase L, Bai R, Mohanty S, Pump A, Cereceda Brantes M, Horton R, Burkhardt JD, Lakkireddy D, Reddy YM, Casella M, Dello Russo A, Tondo C and Natale A: Atrial fibrillation and the risk of incident dementia: a meta-analysis. Heart Rhythm. 9:1761–1768. 2012. View Article : Google Scholar : PubMed/NCBI | |
Chao TF, Tsao HM, Ambrose K, Lin YJ, Lin WS, Chang SL, Lo LW, Hu YF, Tuan TC, Suenari K, Li CH, Hartono B, Chang HY, Chung FP, Hanafy DA, Lin WY and Chen SA: Renal dysfunction and the risk of thromboembolic events in patients with atrial fibrillation after catheter ablation - the potential role beyond the CHA2DS2-VASc score. Heart Rhythm. 9:1755–1760. 2012. View Article : Google Scholar : PubMed/NCBI | |
Calvo N, Bisbal F, Guiu E, Ramos P, Nadal M, Tolosana JM, Arbelo E, Berruezo A, Sitges M, Brugada J and Mont L: Impact of atrial fibrillation-induced tachycardiomyopathy in patients undergoing pulmonary vein isolation. Int J Cardiol. 168:4093–4097. 2013. View Article : Google Scholar : PubMed/NCBI | |
Naji F, Pagliaruzzi M, Penko M, Kanic V and Vokac D: Changes in left ventricular filling in patients with persistent atrial fibrilation. Int J Med Sci. 10:1876–1879. 2013. View Article : Google Scholar : PubMed/NCBI | |
Tayebjee MH, Gilbert K, Macdonald W, Hogarth AJ, Lewis NT and Tan LB: Atrial fibrillation reduces the functional REServe of the heart by a fifth: a pilot FRESH-AF study. Int J Cardiol. 168:4369–4370. 2013. View Article : Google Scholar : PubMed/NCBI | |
Weijs B, Pisters R, Haest RJ, Kragten JA, Joosen IA, Versteylen M, Timmermans CC, Pison L, Blaauw Y, Hofstra L, Nieuwlaat R, Wildberger J and Crijns HJ: Patients originally diagnosed with idiopathic atrial fibrillation more often suffer from insidious coronary artery disease compared to healthy sinus rhythm controls. Heart Rhythm. 9:1923–1929. 2012. View Article : Google Scholar | |
Soliman EZ, Safford MM, Muntner P, Khodneva Y, Dawood FZ, Zakai NA, Thacker EL, Judd S, Howard VJ, Howard G, Herrington DM and Cushman M: Atrial fibrillation and the risk of myocardial infarction. JAMA Intern Med. 174:107–114. 2014. View Article : Google Scholar : PubMed/NCBI | |
Marijon E, Le Heuzey JY, Connolly S, Yang S, Pogue J, Brueckmann M, Eikelboom J, Themeles E, Ezekowitz M, Wallentin L and Yusuf S: RE-LY Investigators: Causes of death and influencing factors in patients with atrial fibrillation: a competing-risk analysis from the randomized evaluation of long-term anticoagulant therapy study. Circulation. 128:2192–2201. 2013. View Article : Google Scholar | |
Go AS, Mozaffarian D, Roger VL, Benjamin EJ, Berry JD, Blaha MJ, Dai S, Ford ES, Fox CS, Franco S, Fullerton HJ, Gillespie C, Hailpern SM, Heit JA, Howard VJ, Huffman MD, Judd SE, Kissela BM, Kittner SJ, Lackland DT, Lichtman JH, Lisabeth LD, Mackey RH, Magid DJ, Marcus GM, Marelli A, Matchar DB, McGuire DK, Mohler ER III, Moy CS, Mussolino ME, Neumar RW, Nichol G, Pandey DK, Paynter NP, Reeves MJ, Sorlie PD, Stein J, Towfighi A, Turan TN, Virani SS, Wong ND, Woo D and Turner MB: American Heart Association Statistics Committee and Stroke Statistics Subcommittee: Heart disease and stroke statistics - 2014 update: a report from the American Heart Association. Circulation. 129:e28–e292. 2014. View Article : Google Scholar | |
Ball J, Carrington MJ, McMurray JJ and Stewart S: Atrial fibrilation: profile and burden of an evolving epidemic in the 21st century. Int J Cardiol. 67:1807–1824. 2013. View Article : Google Scholar : PubMed/NCBI | |
Coyne KS, Paramore C, Grandy S, Mercader M, Reynolds M and Zimetbaum P: Assessing the direct costs of treating nonvalvular atrial fibrillation in the United States. Value Health. 9:348–356. 2006. View Article : Google Scholar : PubMed/NCBI | |
Nattel S: New ideas about atrial fibrillation 50 years on. Nature. 415:219–226. 2002.PubMed/NCBI | |
Abed HS, Samuel CS, Lau DH, Kelly DJ, Royce SG, Alasady M, Mahajan R, Kuklik P, Zhang Y, Brooks AG, Nelson AJ, Worthley SG, Abhayaratna WP, Kalman JM, Wittert GA and Sanders P: Obesity results in progressive atrial structural and electrical remodeling: implications for atrial fibrillation. Heart Rhythm. 10:90–100. 2013. View Article : Google Scholar : PubMed/NCBI | |
Naruse Y, Tada H, Satoh M, Yanagihara M, Tsuneoka H, Hirata Y, Ito Y, Kuroki K, Machino T, Yamasaki H, Igarashi M, Sekiguchi Y, Sato A and Aonuma K: Concomitant obstructive sleep apnea increases the recurrence of atrial fibrillation following radiofrequency catheter ablation of atrial fibrillation: clinical impact of continuous positive airway pressure therapy. Heart Rhythm. 10:331–337. 2013. View Article : Google Scholar | |
Chao TF, Hung CL, Chen SJ, Wang KL, Chen TJ, Lin YJ, Chang SL, Lo LW, Hu YF, Tuan TC and Chen SA: The association between hyperuricemia, left atrial size and new-onset atrial fibrillation. Int J Cardiol. 168:4027–4032. 2013. View Article : Google Scholar : PubMed/NCBI | |
Andrade J, Khairy P, Dobrev D and Nattel S: The clinical profile and pathophysiology of atrial fibrillation: relationships among clinical features, epidemiology, and mechanisms. Circ Res. 114:1453–1468. 2014. View Article : Google Scholar : PubMed/NCBI | |
Fox CS, Parise H, D’Agostino RB Sr, Lloyd-Jones DM, Vasan RS, Wang TJ, Levy D, Wolf P and Benjamin EJ: Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. JAMA. 291:2851–2855. 2004. View Article : Google Scholar : PubMed/NCBI | |
Ellinor PT, Yoerger DM, Ruskin JN and MacRae CA: Familial aggregation in lone atrial fibrillation. Hum Genet. 118:179–184. 2005. View Article : Google Scholar : PubMed/NCBI | |
Arnar DO, Thorvaldsson S, Manolio TA, Thorgeirsson G, Kristjansson K, Hakonarson H and Stefansson K: Familial aggregation of atrial fibrillation in Iceland. Eur Heart J. 27:708–712. 2006. View Article : Google Scholar : PubMed/NCBI | |
Christophersen IE, Ravn LS, Budtz-Joergensen E, Skytthe A, Haunsoe S, Svendsen JH and Christensen K: Familial aggregation of atrial fibrillation: a study in Danish twins. Circ Arrhythm Electrophysiol. 2:378–383. 2009. View Article : Google Scholar : PubMed/NCBI | |
Yang YQ, Zhang XL, Wang XH, Tan HW, Shi HF, Fang WY and Liu X: Familial aggregation of lone atrial fibrillation in Chinese population. Intern Med. 49:2385–2391. 2010. View Article : Google Scholar : PubMed/NCBI | |
Lubitz SA, Yin X, Fontes JD, Magnani JW, Rienstra M, Pai M, Villalon ML, Vasan RS, Pencina MJ, Levy D, Larson MG, Ellinor PT and Benjamin EJ: Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. JAMA. 304:2263–2269. 2010. View Article : Google Scholar : PubMed/NCBI | |
Zöller B, Ohlsson H, Sundquist J and Sundquist K: High familial risk of atrial fibrillation/atrial flutter in multiplex families: a nationwide family study in Sweden. J Am Heart Assoc. 2:e0033842012.PubMed/NCBI | |
Oyen N, Ranthe MF, Carstensen L, Boyd HA, Olesen MS, Olesen SP, Wohlfahrt J and Melbye M: Familial aggregation of lone atrial fibrillation in young persons. J Am Coll Cardiol. 60:917–921. 2012. View Article : Google Scholar : PubMed/NCBI | |
Brugada R, Tapscott T, Czernuszewicz GZ, Marian AJ, Iglesias A, Mont L, Brugada J, Girona J, Domingo A, Bachinski LL and Roberts R: Identification of a genetic locus for familial atrial fibrillation. N Engl J Med. 336:905–911. 1997. View Article : Google Scholar : PubMed/NCBI | |
Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J and Huang W: KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 299:251–254. 2003. View Article : Google Scholar : PubMed/NCBI | |
Ellinor PT, Shin JT, Moore RK, Yoerger DM and MacRae CA: Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation. 107:2880–2883. 2003. View Article : Google Scholar : PubMed/NCBI | |
Oberti C, Wang L, Li L, Dong J, Rao S, Du W and Wang Q: Genome-wide linkage scan identifies a novel genetic locus on chromosome 5p13 for neonatal atrial fibrillation associated with sudden death and variable cardiomyopathy. Circulation. 110:3753–3759. 2004. View Article : Google Scholar | |
Volders PG, Zhu Q, Timmermans C, Eurlings PM, Su X, Arens YH, Li L, Jongbloed RJ, Xia M, Rodriguez LM and Chen YH: Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21. Heart Rhythm. 4:469–475. 2007. View Article : Google Scholar : PubMed/NCBI | |
Darbar D, Hardy A, Haines JL and Roden DM: Prolonged signal-averaged P-wave duration as an intermediate phenotype for familial atrial fibrillation. J Am Coll Cardiol. 51:1083–1089. 2008. View Article : Google Scholar : PubMed/NCBI | |
Olesen MS, Bentzen BH, Nielsen JB, Steffensen AB, David JP, Jabbari J, Jensen HK, Haunsø S, Svendsen JH and Schmitt N: Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. BMC Med Genet. 13:242012. View Article : Google Scholar : PubMed/NCBI | |
Yang Y, Xia M, Jin Q, Bendahhou S, Shi J and Chen Y, Liang B, Lin J, Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu W, Chen Z, Wan H, Cui J, Barhanin J and Chen Y: Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet. 75:899–905. 2004. View Article : Google Scholar : PubMed/NCBI | |
Nielsen JB, Bentzen BH, Olesen MS, David JP, Olesen SP, Haunsø S, Svendsen JH and Schmitt N: Gain-of-function mutations in potassium channel subunit KCNE2 associated with early-onset lone atrial fibrillation. Biomark Med. 8:557–570. 2014. View Article : Google Scholar : PubMed/NCBI | |
Lundby A, Ravn LS, Svendsen JH, Hauns S, Olesen SP and Schmitt N: KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. Cell Physiol Biochem. 21:47–54. 2008. View Article : Google Scholar : PubMed/NCBI | |
Zeng Z, Tan C, Teng S, Chen J, Su S, Zhou X, Wang F, Zhang S, Gu D, Makielski JC and Pu J: The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population. Cardiology. 108:97–103. 2007. View Article : Google Scholar : PubMed/NCBI | |
Ravn LS, Aizawa Y, Pollevick GD, Hofman-Bang J, Cordeiro JM, Dixen U, Jensen G, Wu Y, Burashnikov E, Haunso S, Guerchicoff A, Hu D, Svendsen JH, Christiansen M and Antzelevitch C: Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation. Heart Rhythm. 5:427–435. 2008. View Article : Google Scholar : PubMed/NCBI | |
Hong K, Bjerregaard P, Gussak I and Brugada R: Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. J Cardiovasc Electrophysiol. 16:394–396. 2005. View Article : Google Scholar : PubMed/NCBI | |
Sinner MF, Pfeufer A, Akyol M, Beckmann BM, Hinterseer M, Wacker A, Perz S, Sauter W, Illig T, Näbauer M, Schmitt C, Wichmann HE, Schömig A, Steinbeck G, Meitinger T and Kääb S: The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG). Eur Heart J. 29:907–914. 2008. View Article : Google Scholar : PubMed/NCBI | |
Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, Sattiraju S, Ballew JD, Jahangir A and Terzic A: Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet. 15:2185–2191. 2006. View Article : Google Scholar : PubMed/NCBI | |
Yang Y, Li J, Lin X, Yang Y, Hong K, Wang L, Liu J, Li L, Yan D, Liang D, Xiao J, Jin H, Wu J, Zhang Y and Chen YH: Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J Hum Genet. 54:277–283. 2009. View Article : Google Scholar : PubMed/NCBI | |
Christophersen IE, Olesen MS, Liang B, Andersen MN, Larsen AP, Nielsen JB, Haunsø S, Olesen SP, Tveit A, Svendsen JH and Schmitt N: Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation. Eur Heart J. 34:1517–1525. 2013. View Article : Google Scholar : PubMed/NCBI | |
Olesen MS, Refsgaard L, Holst AG, Larsen AP, Grubb S, Haunsø S, Svendsen JH, Olesen SP, Schmitt N and Calloe K: A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation. Cardiovasc Res. 98:488–495. 2013. View Article : Google Scholar : PubMed/NCBI | |
Xia M, Jin Q, Bendahhou S, He Y, Larroque MM and Chen Y, Zhou Q, Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X, Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J and Chen Y: A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun. 332:1012–1019. 2005. View Article : Google Scholar : PubMed/NCBI | |
Delaney JT, Muhammad R, Blair MA, Kor K, Fish FA, Roden DM and Darbar D: A KCNJ8 mutation associated with early repolarization and atrial fibrillation. Europace. 14:1428–1432. 2012. View Article : Google Scholar : PubMed/NCBI | |
Gollob MH, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q, Liu X, Veinot JP, Tang AS, Stewart AF, Tesson F, Klein GJ, Yee R, Skanes AC, Guiraudon GM, Ebihara L and Bai D: Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med. 354:2677–2688. 2006. View Article : Google Scholar : PubMed/NCBI | |
Sun Y, Yang YQ, Gong XQ, Wang XH, Li RG, Tan HW, Liu X, Fang WY and Bai D: Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication. Hum Mutat. 34:603–609. 2013.PubMed/NCBI | |
Shi HF, Yang JF, Wang Q, Li RG, Xu YJ, Qu XK, Fang WY, Liu X and Yang YQ: Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation. Mol Med Rep. 7:767–774. 2013.PubMed/NCBI | |
Thibodeau IL, Xu J, Li Q, Liu G, Lam K, Veinot JP, Birnie DH, Jones DL, Krahn AD, Lemery R, Nicholson BJ and Gollob MH: Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue. Circulation. 122:236–244. 2010. View Article : Google Scholar | |
Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, Ballew JD, de Andrade M, Burnett JC Jr and Olson TM: Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med. 359:158–165. 2008. View Article : Google Scholar : PubMed/NCBI | |
Darbar D, Kannankeril PJ, Donahue BS, Kucera G, Stubblefield T, Haines JL, George AL Jr and Roden DM: Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 117:1927–1935. 2008. View Article : Google Scholar : PubMed/NCBI | |
Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ and Roden DM: Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol. 2:268–275. 2009. | |
Olesen MS, Holst AG, Svendsen JH, Haunsø S and Tfelt-Hansen J: SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation. Heart Rhythm. 9:770–773. 2012. View Article : Google Scholar : PubMed/NCBI | |
Wang P, Yang Q, Wu X, Yang Y, Shi L, Wang C, Wu G, Xia Y, Yang B, Zhang R, Xu C, Cheng X, Li S, Zhao Y, Fu F, Liao Y, Fang F, Chen Q, Tu X and Wang QK: Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population. Biochem Biophys Res Commun. 398:98–104. 2010. View Article : Google Scholar : PubMed/NCBI | |
Li RG, Wang Q, Xu YJ, Zhang M, Qu XK, Liu X, Fang WY and Yang YQ: Mutations of the SCN4B-encoded sodium channel β4 subunit in familial atrial fibrillation. Int J Mol Med. 32:144–150. 2013. | |
Olesen MS, Andreasen L, Jabbari J, Refsgaard L, Haunsø S, Olesen SP, Nielsen JB, Schmitt N and Svendsen JH: Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart Rhythm. 11:246–251. 2014. View Article : Google Scholar : PubMed/NCBI | |
Weeke P, Parvez B, Blair M, Short L, Ingram C, Kucera G, Stubblefield T, Roden DM and Darbar D: Candidate gene approach to identifying rare genetic variants associated with lone atrial fibrillation. Heart Rhythm. 11:46–52. 2014. View Article : Google Scholar : PubMed/NCBI | |
Mommersteeg MT, Christoffels VM, Anderson RH and Moorman AF: Atrial fibrillation: a developmental point of view. Heart Rhythm. 6:1818–1824. 2009. View Article : Google Scholar : PubMed/NCBI | |
Mahida S: Transcription factors and atrial fibrillation. Cardiovasc Res. 101:194–202. 2014. View Article : Google Scholar | |
Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE and Seidman JG: Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 281:108–111. 1998. View Article : Google Scholar : PubMed/NCBI | |
Reamon-Buettner SM and Borlak J: NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum Mutat. 31:1185–1194. 2010. View Article : Google Scholar : PubMed/NCBI | |
Costa MW, Guo G, Wolstein O, Vale M, Castro ML, Wang L, Otway R, Riek P, Cochrane N, Furtado M, Semsarian C, Weintraub RG, Yeoh T, Hayward C, Keogh A, Macdonald P, Feneley M, Graham RM, Seidman JG, Seidman CE, Rosenthal N, Fatkin D and Harvey RP: Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy. Circ Cardiovasc Genet. 6:238–247. 2013. View Article : Google Scholar : PubMed/NCBI | |
Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC and Srivastava D: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature. 424:443–447. 2003. View Article : Google Scholar : PubMed/NCBI | |
Zhou P, He A and Pu WT: Regulation of GATA4 transcriptional activity in cardiovascular development and disease. Curr Top Dev Biol. 100:143–169. 2012. View Article : Google Scholar : PubMed/NCBI | |
Yang YQ, Wang J, Liu XY, Chen XZ, Zhang W, Wang XZ, Liu X and Fang WY: Novel GATA4 mutations in patients with congenital ventricular septal defects. Med Sci Monit. 18:CR344–CR350. 2012.PubMed/NCBI | |
Yang YQ, Wang J, Liu XY, Chen XZ, Zhang W and Wang XZ: Mutation spectrum of GATA4 associated with congenital atrial septal defects. Arch Med Sci. 9:976–983. 2013. View Article : Google Scholar : PubMed/NCBI | |
Yang YQ, Gharibeh L, Li RG, Xin YF, Wang J, Liu ZM, Qiu XB, Xu YJ, Xu L, Qu XK, Liu X, Fang WY, Huang RT, Xue S and Nemer G: GATA4 loss-of-function mutations underlie familial tetralogy of fallot. Hum Mutat. 34:1662–1671. 2013. View Article : Google Scholar : PubMed/NCBI | |
Li RG, Li L, Qiu XB, Yuan F, Xu L, Li X, Xu YJ, Jiang WF, Jiang JQ, Liu X, Fang WY, Zhang M, Peng LY, Qu XK and Yang YQ: GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. Biochem Biophys Res Commun. 439:591–596. 2013. View Article : Google Scholar : PubMed/NCBI | |
Zhao L, Xu JH, Xu WJ, Yu H, Wang Q, Zheng HZ, Jiang WF, Jiang JF and Yang YQ: A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. Int J Mol Med. 33:654–660. 2014.PubMed/NCBI | |
Jiang JQ, Li RG, Wang J, Liu XY, Xu YJ, Fang WY, Chen XZ, Zhang W, Wang XZ and Yang YQ: Prevalence and spectrum of GATA5 mutations associated with congenital heart disease. Int J Cardiol. 165:570–573. 2013. View Article : Google Scholar : PubMed/NCBI | |
Wei D, Bao H, Zhou N, Zheng GF, Liu XY and Yang YQ: GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. Pediatr Cardiol. 34:504–511. 2013. View Article : Google Scholar : PubMed/NCBI | |
Wei D, Bao H, Liu XY, Zhou N, Wang Q, Li RG, Xu YJ and Yang YQ: GATA5 loss-of-function mutations underlie tetralogy of fallot. Int J Med Sci. 10:34–42. 2013. View Article : Google Scholar : PubMed/NCBI | |
Huang RT, Xue S, Xu YJ, Zhou M and Yang YQ: Somatic GATA5 mutations in sporadic tetralogy of Fallot. Int J Mol Med. 33:1227–1235. 2014.PubMed/NCBI | |
Shi LM, Tao JW, Qiu XB, Wang J, Yuan F, Xu L, Liu H, Li RG, Xu YJ, Wang Q, Zheng HZ, Li X, Wang XZ, Zhang M, Qu XK and Yang YQ: GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. Int J Mol Med. 33:1219–1226. 2014.PubMed/NCBI | |
Kodo K, Nishizawa T, Furutani M, Arai S, Yamamura E, Joo K, Takahashi T, Matsuoka R and Yamagishi H: GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci USA. 106:13933–13938. 2009. View Article : Google Scholar : PubMed/NCBI | |
Zheng GF, Wei D, Zhao H, Zhou N, Yang YQ and Liu XY: A novel GATA6 mutation associated with congenital ventricular septal defect. Int J Mol Med. 29:1065–1071. 2012.PubMed/NCBI | |
Wang J, Luo XJ, Xin YF, Liu Y, Liu ZM, Wang Q, Li RG, Fang WY, Wang XZ and Yang YQ: Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. DNA Cell Biol. 31:1610–1617. 2012. View Article : Google Scholar : PubMed/NCBI | |
Huang RT, Xue S, Xu YJ and Yang YQ: Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot. Int J Mol Med. 31:51–58. 2013.PubMed/NCBI | |
Yuan F, Zhao L, Wang J, Zhang W, Li X, Qiu XB, Li RG, Xu YJ, Xu L, Qu XK, Fang WY and Yang YQ: PITX2c loss-of-function mutations responsible for congenital atrial septal defects. Int J Med Sci. 10:1422–1429. 2013. View Article : Google Scholar : PubMed/NCBI | |
Wang J, Xin YF, Xu WJ, Liu ZM, Qiu XB, Qu XK, Xu L, Li X and Yang YQ: Prevalence and spectrum of PITX2c mutations associated with congenital heart disease. DNA Cell Biol. 32:708–16. 2013. View Article : Google Scholar : PubMed/NCBI | |
Wei D, Gong XH, Qiu G, Wang J and Yang YQ: Novel PITX2c loss-of-function mutations associated with complex congenital heart disease. Int J Mol Med. 33:1201–1208. 2014.PubMed/NCBI | |
Huang RT, Xue S, Xu YJ, Zhou M and Yang YQ: A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. Int J Mol Med. 31:1119–1126. 2013.PubMed/NCBI | |
Xie WH, Chang C, Xu YJ, Li RG, Qu XK, Fang WY, Liu X and Yang YQ: Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation. Clinics (Sao Paulo). 68:777–784. 2013. View Article : Google Scholar : PubMed/NCBI | |
Yu H, Xu JH, Song HM, Zhao L, Xu WJ, Wang J, Li RG, Xu L, Jiang WF, Qiu XB, Jiang JQ, Qu XK, Liu X, Fang WY, Jiang JF and Yang YQ: Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation. Int J Med Sci. 11:554–563. 2014. View Article : Google Scholar : PubMed/NCBI | |
Wang J, Sun YM and Yang YQ: Mutation spectrum of the GATA4 gene in patients with idiopathic atrial fibrillation. Mol Biol Rep. 39:8127–8135. 2012. View Article : Google Scholar : PubMed/NCBI | |
Yang YQ, Wang J, Wang XH, Wang Q, Tan HW, Zhang M, Shen FF, Jiang JQ, Fang WY and Liu X: Mutational spectrum of the GATA5 gene associated with familial atrial fibrillation. Int J Cardiol. 157:305–307. 2012. View Article : Google Scholar : PubMed/NCBI | |
Wang XH, Huang CX, Wang Q, Li RG, Xu YJ, Liu X, Fang WY and Yang YQ: A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation. Int J Mol Med. 31:43–50. 2013.PubMed/NCBI | |
Gu JY, Xu JH, Yu H and Yang YQ: Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. Clinics (Sao Paulo). 67:1393–1399. 2012. View Article : Google Scholar : PubMed/NCBI | |
Yang YQ, Wang XH, Tan HW, Jiang WF, Fang WY and Liu X: Prevalence and spectrum of GATA6 mutations associated with familial atrial fibrillation. Int J Cardiol. 155:494–496. 2012. View Article : Google Scholar : PubMed/NCBI | |
Yang YQ, Li L, Wang J, Zhang XL, Li RG, Xu YJ, Tan HW, Wang XH, Jiang JQ, Fang WY and Liu X: GATA6 loss-of-function mutation in atrial fibrillation. Eur J Med Genet. 55:520–526. 2012. View Article : Google Scholar : PubMed/NCBI | |
Li J, Liu WD, Yang ZL and Yang YQ: Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. Int J Mol Med. 30:783–790. 2012.PubMed/NCBI | |
Yang YQ, Xu YJ, Li RG, Qu XK, Fang WY and Liu X: Prevalence and spectrum of PITX2c mutations associated with familial atrial fibrillation. Int J Cardiol. 168:2873–2876. 2013. View Article : Google Scholar : PubMed/NCBI | |
Zhou YM, Zheng PX, Yang YQ, Ge ZM and Kang WQ: A novel PITX2c loss-of-function mutation underlies lone atrial fibrillation. Int J Mol Med. 32:827–834. 2013.PubMed/NCBI | |
Wang J, Zhang DF, Sun YM and Yang YQ: A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation. Eur J Med Genet. 57:25–31. 2014. View Article : Google Scholar : PubMed/NCBI | |
Qiu XB, Xu YJ, Li RG, Xu L, Liu X, Fang WY, Yang YQ and Qu XK: PITX2C loss-of-function mutations responsible for idiopathic atrial fibrillation. Clinics (Sao Paulo). 69:15–22. 2014. View Article : Google Scholar : PubMed/NCBI | |
Biben C, Hatzistavrou T and Harvey RP: Expression of NK-2 class homeobox gene Nkx2-6 in foregut endoderm and heart. Mech Dev. 73:125–127. 1998. View Article : Google Scholar : PubMed/NCBI | |
Tanaka M, Schinke M, Liao HS, Yamasaki N and Izumo S: Nkx2.5 and Nkx2.6, homologs of Drosophila tinman, are required for development of the pharynx. Mol Cell Biol. 21:4391–4398. 2001. View Article : Google Scholar | |
Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ and Syrris P: Common arterial trunk associated with a homeodomain mutation of NKX2.6. Hum Mol Genet. 14:585–593. 2005. View Article : Google Scholar : PubMed/NCBI | |
Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, Rein AJ and Elpeleg O: Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. J Med Genet. 51:268–270. 2014. View Article : Google Scholar : PubMed/NCBI | |
Pradhan L, Genis C, Scone P, Weinberg EO, Kasahara H and Nam HJ: Crystal structure of the human NKX2.5 homeodomain in complex with DNA target. Biochemistry. 51:6312–6319. 2012. View Article : Google Scholar : PubMed/NCBI |