메뉴 건너뛰기




Volumn 7, Issue 12, 2012, Pages

The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5;

EID: 84871685456     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0052685     Document Type: Article
Times cited : (34)

References (37)
  • 1
    • 33748741885 scopus 로고    scopus 로고
    • Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls
    • Kempers MJ, Lanting CI, van Heijst AF, van Trotsenburg AS, Wiedijk BM, et al. (2006) Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. J Clin Endocrinol Metab 91: 3370-3376.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 3370-3376
    • Kempers, M.J.1    Lanting, C.I.2    van Heijst, A.F.3    van Trotsenburg, A.S.4    Wiedijk, B.M.5
  • 2
    • 0042632714 scopus 로고    scopus 로고
    • Development of the thyroid gland: lessons from congenitally hypothyroid mice and men
    • van Vliet G, (2003) Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. Clin Genet 63: 445-455.
    • (2003) Clin Genet , vol.63 , pp. 445-455
    • van Vliet, G.1
  • 3
    • 0034999523 scopus 로고    scopus 로고
    • Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors
    • Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, et al. (2001) Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 86: 2009-2014.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2009-2014
    • Castanet, M.1    Polak, M.2    Bonaiti-Pellie, C.3    Lyonnet, S.4    Czernichow, P.5
  • 4
    • 0036181474 scopus 로고    scopus 로고
    • Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
    • Krude H, Schutz B, Biebermann H, von MA, Schnabel D, et al. (2002) Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 109: 475-480.
    • (2002) J Clin Invest , vol.109 , pp. 475-480
    • Krude, H.1    Schutz, B.2    Biebermann, H.3    von, M.A.4    Schnabel, D.5
  • 5
    • 0031820442 scopus 로고    scopus 로고
    • Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
    • Clifton-Bligh RJ, Wentworth JM, Heinz P, Crisp MS, John R, et al. (1998) Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 19: 399-401.
    • (1998) Nat Genet , vol.19 , pp. 399-401
    • Clifton-Bligh, R.J.1    Wentworth, J.M.2    Heinz, P.3    Crisp, M.S.4    John, R.5
  • 6
    • 17344374131 scopus 로고    scopus 로고
    • PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
    • Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, et al. (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 19: 83-86.
    • (1998) Nat Genet , vol.19 , pp. 83-86
    • Macchia, P.E.1    Lapi, P.2    Krude, H.3    Pirro, M.T.4    Missero, C.5
  • 7
    • 0028888593 scopus 로고
    • Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
    • Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S, (1995) Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 332: 155-160.
    • (1995) N Engl J Med , vol.332 , pp. 155-160
    • Sunthornthepvarakui, T.1    Gottschalk, M.E.2    Hayashi, Y.3    Refetoff, S.4
  • 8
    • 33646034932 scopus 로고    scopus 로고
    • Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis
    • Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, et al. (2006) Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 91: 1428-1433.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 1428-1433
    • Dentice, M.1    Cordeddu, V.2    Rosica, A.3    Ferrara, A.M.4    Santarpia, L.5
  • 9
    • 79551696195 scopus 로고    scopus 로고
    • Morphogenetics of early thyroid development
    • Fagman H, Nilsson M, (2011) Morphogenetics of early thyroid development. J Mol Endocrinol 46: R33-R42.
    • (2011) J Mol Endocrinol , vol.46
    • Fagman, H.1    Nilsson, M.2
  • 10
    • 77954763028 scopus 로고    scopus 로고
    • Examining the cardiac NK-2 genes in early heart development
    • Bartlett H, Veenstra GJ, Weeks DL, (2010) Examining the cardiac NK-2 genes in early heart development. Pediatr Cardiol 31: 335-341.
    • (2010) Pediatr Cardiol , vol.31 , pp. 335-341
    • Bartlett, H.1    Veenstra, G.J.2    Weeks, D.L.3
  • 11
    • 0032479573 scopus 로고    scopus 로고
    • Congenital heart disease caused by mutations in the transcription factor NKX2-5
    • Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, et al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281: 108-111.
    • (1998) Science , vol.281 , pp. 108-111
    • Schott, J.J.1    Benson, D.W.2    Basson, C.T.3    Pease, W.4    Silberbach, G.M.5
  • 12
    • 78049442656 scopus 로고    scopus 로고
    • NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)
    • Reamon-Buettner SM, Borlak J, (2010) NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum Mutat 31: 1185-1194.
    • (2010) Hum Mutat , vol.31 , pp. 1185-1194
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 13
    • 18244368524 scopus 로고    scopus 로고
    • A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998)
    • Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, et al. (2002) A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991-1998). J Clin Endocrinol Metab 87: 557-562.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 557-562
    • Olivieri, A.1    Stazi, M.A.2    Mastroiacovo, P.3    Fazzini, C.4    Medda, E.5
  • 14
    • 79960090202 scopus 로고    scopus 로고
    • Increased Risk for Non-Autoimmune Hypothyroidism in Young Patients with Congenital Heart Defects
    • Passeri E, Frigerio M, De FT, Valaperta R, Capelli P, et al. (2011) Increased Risk for Non-Autoimmune Hypothyroidism in Young Patients with Congenital Heart Defects. J Clin Endocrinol Metab: E1115-E1119.
    • (2011) J Clin Endocrinol Metab
    • Passeri, E.1    Frigerio, M.2    De, F.T.3    Valaperta, R.4    Capelli, P.5
  • 15
    • 58149263375 scopus 로고    scopus 로고
    • Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil
    • Ramos HE, Nesi-Franca S, Boldarine VT, Pereira RM, Chiamolera MI, et al. (2009) Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil. Thyroid 19: 61-68.
    • (2009) Thyroid , vol.19 , pp. 61-68
    • Ramos, H.E.1    Nesi-Franca, S.2    Boldarine, V.T.3    Pereira, R.M.4    Chiamolera, M.I.5
  • 16
    • 21644474615 scopus 로고    scopus 로고
    • CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results
    • van der Velde ET, Vriend JW, Mannens MM, Uiterwaal CS, Brand R, et al. (2005) CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results. Eur J Epidemiol 20: 549-557.
    • (2005) Eur J Epidemiol , vol.20 , pp. 549-557
    • van der Velde, E.T.1    Vriend, J.W.2    Mannens, M.M.3    Uiterwaal, C.S.4    Brand, R.5
  • 17
    • 0030005755 scopus 로고    scopus 로고
    • The I.M.A.G.E. Consortium: An integrated molecular analysis of genomes and their expression
    • Lennon G, Auffray C, Polymeropoulos M, Soares MB, (1996) The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics 33: 151-152.
    • (1996) Genomics , vol.33 , pp. 151-152
    • Lennon, G.1    Auffray, C.2    Polymeropoulos, M.3    Soares, M.B.4
  • 18
    • 44949230354 scopus 로고    scopus 로고
    • A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation
    • Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, et al. (2008) A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res 102: 1433-1442.
    • (2008) Circ Res , vol.102 , pp. 1433-1442
    • Postma, A.V.1    van de Meerakker, J.B.2    Mathijssen, I.B.3    Barnett, P.4    Christoffels, V.M.5
  • 19
    • 0030043373 scopus 로고    scopus 로고
    • Conditional differentiation of heart- and smooth muscle-derived cells transformed by a temperature-sensitive mutant of SV40 T antigen
    • Jahn L, Sadoshima J, Greene A, Parker C, Morgan KG, et al. (1996) Conditional differentiation of heart- and smooth muscle-derived cells transformed by a temperature-sensitive mutant of SV40 T antigen. J Cell Sci 109 (Pt 2): 397-407.
    • (1996) J Cell Sci , vol.109 , Issue.Pt 2 , pp. 397-407
    • Jahn, L.1    Sadoshima, J.2    Greene, A.3    Parker, C.4    Morgan, K.G.5
  • 20
    • 0001371293 scopus 로고
    • Tissue culture studies of the proliferative capacity of cervical carcinoma and normal epithelium
    • Gey GO, Coffman WD, Kubicek MT, (1952) Tissue culture studies of the proliferative capacity of cervical carcinoma and normal epithelium. Cancer Res 12: 264-265.
    • (1952) Cancer Res , vol.12 , pp. 264-265
    • Gey, G.O.1    Coffman, W.D.2    Kubicek, M.T.3
  • 21
    • 30644466345 scopus 로고    scopus 로고
    • Factor correction as a tool to eliminate between-session variation in replicate experiments: application to molecular biology and retrovirology
    • Ruijter JM, Thygesen HH, Schoneveld OJ, Das AT, Berkhout B, et al. (2006) Factor correction as a tool to eliminate between-session variation in replicate experiments: application to molecular biology and retrovirology. Retrovirology 3: 2.
    • (2006) Retrovirology , vol.3 , pp. 2
    • Ruijter, J.M.1    Thygesen, H.H.2    Schoneveld, O.J.3    Das, A.T.4    Berkhout, B.5
  • 22
    • 0019351935 scopus 로고
    • SV40-transformed simian cells support the replication of early SV40 mutants
    • Gluzman Y, (1981) SV40-transformed simian cells support the replication of early SV40 mutants. Cell 23: 175-182.
    • (1981) Cell , vol.23 , pp. 175-182
    • Gluzman, Y.1
  • 23
    • 84863556835 scopus 로고    scopus 로고
    • Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
    • Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, et al. (2012) Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes. Science 337: 64-69.
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3    Fu, W.4    Kenny, E.E.5
  • 25
    • 35948965996 scopus 로고    scopus 로고
    • National Health and Nutrition Examination Survey III thyroid-stimulating hormone (TSH)-thyroperoxidase antibody relationships demonstrate that TSH upper reference limits may be skewed by occult thyroid dysfunction
    • Spencer CA, Hollowell JG, Kazarosyan M, Braverman LE, (2007) National Health and Nutrition Examination Survey III thyroid-stimulating hormone (TSH)-thyroperoxidase antibody relationships demonstrate that TSH upper reference limits may be skewed by occult thyroid dysfunction. J Clin Endocrinol Metab 92: 4236-4240.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 4236-4240
    • Spencer, C.A.1    Hollowell, J.G.2    Kazarosyan, M.3    Braverman, L.E.4
  • 26
    • 0037093383 scopus 로고    scopus 로고
    • Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation
    • Habets PE, Moorman AF, Clout DE, van Roon MA, Lingbeek M, et al. (2002) Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev 16: 1234-1246.
    • (2002) Genes Dev , vol.16 , pp. 1234-1246
    • Habets, P.E.1    Moorman, A.F.2    Clout, D.E.3    van Roon, M.A.4    Lingbeek, M.5
  • 27
    • 0033430230 scopus 로고    scopus 로고
    • Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
    • Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, et al. (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104: 1567-1573.
    • (1999) J Clin Invest , vol.104 , pp. 1567-1573
    • Benson, D.W.1    Silberbach, G.M.2    Kavanaugh-McHugh, A.3    Cottrill, C.4    Zhang, Y.5
  • 28
    • 0033912859 scopus 로고    scopus 로고
    • Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease
    • Kasahara H, Lee B, Schott JJ, Benson DW, Seidman JG, et al. (2000) Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest 106: 299-308.
    • (2000) J Clin Invest , vol.106 , pp. 299-308
    • Kasahara, H.1    Lee, B.2    Schott, J.J.3    Benson, D.W.4    Seidman, J.G.5
  • 29
    • 0027383023 scopus 로고
    • Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants
    • Lints TJ, Parsons LM, Hartley L, Lyons I, Harvey RP, (1993) Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants. Development 119: 419-431.
    • (1993) Development , vol.119 , pp. 419-431
    • Lints, T.J.1    Parsons, L.M.2    Hartley, L.3    Lyons, I.4    Harvey, R.P.5
  • 30
    • 79956331473 scopus 로고    scopus 로고
    • Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis
    • Hermanns P, Grasberger H, Refetoff S, Pohlenz J, (2011) Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis. J Clin Endocrinol Metab 96: E977-E981.
    • (2011) J Clin Endocrinol Metab , vol.96
    • Hermanns, P.1    Grasberger, H.2    Refetoff, S.3    Pohlenz, J.4
  • 31
    • 84880068547 scopus 로고    scopus 로고
    • R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease
    • (Hagerstown)
    • Beffagna G, Cecchetto A, Dal BL, Lorenzon A, Angelini A, et al. (2012) R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease. J Cardiovasc Med (Hagerstown).
    • (2012) J Cardiovasc Med
    • Beffagna, G.1    Cecchetto, A.2    Dal, B.L.3    Lorenzon, A.4    Angelini, A.5
  • 32
    • 78449277937 scopus 로고    scopus 로고
    • Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
    • Cangul H, Morgan NV, Forman JR, Saglam H, Aycan Z, et al. (2010) Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. Clin Endocrinol (Oxf) 73: 671-677.
    • (2010) Clin Endocrinol (Oxf) , vol.73 , pp. 671-677
    • Cangul, H.1    Morgan, N.V.2    Forman, J.R.3    Saglam, H.4    Aycan, Z.5
  • 33
    • 34249071606 scopus 로고    scopus 로고
    • Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism
    • Al Taji E, Biebermann H, Limanova Z, Hnikova O, Zikmund J, et al. (2007) Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Eur J Endocrinol 156: 521-529.
    • (2007) Eur J Endocrinol , vol.156 , pp. 521-529
    • Al Taji, E.1    Biebermann, H.2    Limanova, Z.3    Hnikova, O.4    Zikmund, J.5
  • 35
    • 77951626837 scopus 로고    scopus 로고
    • Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients
    • Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T, (2010) Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab 95: 1981-1985.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 1981-1985
    • Narumi, S.1    Muroya, K.2    Asakura, Y.3    Adachi, M.4    Hasegawa, T.5
  • 36
    • 0029090829 scopus 로고
    • Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5
    • Lyons I, Parsons LM, Hartley L, Li R, Andrews JE, et al. (1995) Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5. Genes Dev 9: 1654-1666.
    • (1995) Genes Dev , vol.9 , pp. 1654-1666
    • Lyons, I.1    Parsons, L.M.2    Hartley, L.3    Li, R.4    Andrews, J.E.5
  • 37
    • 0034634279 scopus 로고    scopus 로고
    • Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5
    • Biben C, Weber R, Kesteven S, Stanley E, McDonald L, et al. (2000) Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ Res 87: 888-895.
    • (2000) Circ Res , vol.87 , pp. 888-895
    • Biben, C.1    Weber, R.2    Kesteven, S.3    Stanley, E.4    McDonald, L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.