메뉴 건너뛰기




Volumn 30, Issue 1, 2007, Pages 13-19

TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism

Author keywords

Congenital hypothyroidism; Congenital malformations; Polymorphisms; Thyroid dysgenesis; Thyroid transcription factors

Indexed keywords

ALANINE; CYSTEINE; DNA; LEUCINE; THYROID TRANSCRIPTION FACTOR 2; THYROTROPIN; TRANSCRIPTION FACTOR;

EID: 33947512641     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03347390     Document Type: Article
Times cited : (18)

References (31)
  • 1
    • 0019467747 scopus 로고
    • Effects of neonatal screening for hypothyroidism: Prevention of mental retardation by treatment before clinical manifestation
    • New England congenital hypothyroidism collaborative
    • New England congenital hypothyroidism collaborative. Effects of neonatal screening for hypothyroidism: prevention of mental retardation by treatment before clinical manifestation. Lancet 1981, 318: 1095-8.
    • (1981) Lancet , vol.318 , pp. 1095-1098
  • 2
    • 0033306083 scopus 로고    scopus 로고
    • A search for the possible molecular mechanisms of thyroid dysgenesis: Sex ratios and associated malformations
    • Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations. J Clin Endocrinol Metab 1999, 84: 2502-6.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2502-2506
    • Devos, H.1    Rodd, C.2    Gagne, N.3    Laframboise, R.4    Van Vliet, G.5
  • 3
    • 33646772555 scopus 로고    scopus 로고
    • Congenital hypothyroidism: From paracelsus to molecular diagnosis
    • Djemli A, Van Vliet G, Delvin EE. Congenital hypothyroidism: From paracelsus to molecular diagnosis. Clin Biochem 2006, 39: 511-8.
    • (2006) Clin Biochem , vol.39 , pp. 511-518
    • Djemli, A.1    Van Vliet, G.2    Delvin, E.E.3
  • 4
    • 18844400822 scopus 로고    scopus 로고
    • Genetics of congenital hypothyroidism
    • Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005, 42: 379-89.
    • (2005) J Med Genet , vol.42 , pp. 379-389
    • Park, S.M.1    Chatterjee, V.K.2
  • 5
    • 0023948591 scopus 로고
    • Congenital abnormalities and congenital hypothyroidism
    • Lazarus JH, Hughes IA. Congenital abnormalities and congenital hypothyroidism. Lancet 1988, 2: 52.
    • (1988) Lancet , vol.2 , pp. 52
    • Lazarus, J.H.1    Hughes, I.A.2
  • 6
    • 0026723020 scopus 로고
    • Congenital actions lies concomitant with persistent primary congenital hypothyroidism
    • Siebner R, Merlob P, Kaiserman I, Sack J. Congenital actions lies concomitant with persistent primary congenital hypothyroidism. Am J Med Genet 1992, 44: 57-60.
    • (1992) Am J Med Genet , vol.44 , pp. 57-60
    • Siebner, R.1    Merlob, P.2    Kaiserman, I.3    Sack, J.4
  • 7
    • 0033010634 scopus 로고    scopus 로고
    • Congenital anomalies associated with congenital hypothyroidism
    • Stoll C, Dott B, Alembik Y, Koehl C. Congenital anomalies associated with congenital hypothyroidism. Ann Genet 1999, 42: 17-20.
    • (1999) Ann Genet , vol.42 , pp. 17-20
    • Stoll, C.1    Dott, B.2    Alembik, Y.3    Koehl, C.4
  • 8
    • 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)
    • Study-Group for Congenital Hypothyroidism
    • Olivieri A, Stazi MA, Mastroiacovo P, et al. Study-Group for Congenital Hypothyroidism 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 2002, 87: 557-62.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 557-562
    • Olivieri, A.1    Stazi, M.A.2    Mastroiacovo, P.3
  • 9
    • 14844309419 scopus 로고    scopus 로고
    • High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism
    • Kreisner E, Camargo-Neto E, Gross JL. High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism. Thyroid 2005, 15: 166-70.
    • (2005) Thyroid , vol.15 , pp. 166-170
    • Kreisner, E.1    Camargo-Neto, E.2    Gross, J.L.3
  • 10
    • 5444271023 scopus 로고    scopus 로고
    • Thyroid development and its disorders: Genetics and molecular mechanisms
    • De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev 2004, 25: 722-46.
    • (2004) Endocr Rev , vol.25 , pp. 722-746
    • De Felice, M.1    Di Lauro, R.2
  • 11
    • 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, et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006, 91: 1428-33.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 1428-1433
    • Dentice, M.1    Cordeddu, V.2    Rosica, A.3
  • 12
    • 0030983833 scopus 로고    scopus 로고
    • Mutations in the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
    • Biebermann H, Schoneberg T, Krude H, Schuktz G, Gudermann T, Gruters A. Mutations in the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 1997, 82: 3471-80.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3471-3480
    • Biebermann, H.1    Schoneberg, T.2    Krude, H.3    Schuktz, G.4    Gudermann, T.5    Gruters, A.6
  • 13
    • 0030994365 scopus 로고    scopus 로고
    • Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
    • Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrich C. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997, 99: 3018-24.
    • (1997) J Clin Invest , vol.99 , pp. 3018-3024
    • Abramowicz, M.J.1    Duprez, L.2    Parma, J.3    Vassart, G.4    Heinrich, C.5
  • 14
    • 0033837870 scopus 로고    scopus 로고
    • Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
    • Iwatani N, Mabe H, Devriendt K, Kodama M, Muke T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000, 137: 272-6.
    • (2000) J Pediatr , vol.137 , pp. 272-276
    • Iwatani, N.1    Mabe, H.2    Devriendt, K.3    Kodama, M.4    Muke, T.5
  • 15
    • 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, et al. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 1998, 19: 399-401.
    • (1998) Nat Genet , vol.19 , pp. 399-401
    • Clifton-Bligh, R.J.1    Wentworth, J.M.2    Heinz, P.3
  • 16
    • 0037101847 scopus 로고    scopus 로고
    • A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis, and cleft palate
    • Castanet M, Park SM, Smith A, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis, and cleft palate. Hum Mol Genet 2002, 11. 2051-9.
    • (2002) Hum Mol Genet , vol.11 , pp. 2051-2059
    • Castanet, M.1    Park, S.M.2    Smith, A.3
  • 17
    • 17344374131 scopus 로고    scopus 로고
    • PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
    • Macchia PE, Lapi P, Krude H, et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet 1998, 19: 83-6.
    • (1998) Nat Genet , vol.19 , pp. 83-86
    • Macchia, P.E.1    Lapi, P.2    Krude, H.3
  • 18
    • 0034885770 scopus 로고    scopus 로고
    • A novel mutation (Q40P) in Pax8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
    • Congdon T, Nguyen LQ, Noguiera CR, Habiby RL, Medeiros Neto G, Kopp P. A novel mutation (Q40P) in Pax8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 2001, 86: 3962-7.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3962-3967
    • Congdon, T.1    Nguyen, L.Q.2    Noguiera, C.R.3    Habiby, R.L.4    Medeiros Neto, G.5    Kopp, P.6
  • 19
    • 18344404449 scopus 로고    scopus 로고
    • TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation
    • Zannini M, Avantaggiato V, Biffali E, et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J 1997, 16: 3185-97.
    • (1997) EMBO J , vol.16 , pp. 3185-3197
    • Zannini, M.1    Avantaggiato, V.2    Biffali, E.3
  • 20
    • 12244250148 scopus 로고    scopus 로고
    • PAX8, TITF1, and FOXE1 gene expression patterns during human development: New insights into human thyroid development and thyroid dysgenesis-associated malformations
    • Trueba SS, Auge J, Mattei G, et al. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab 2005, 90: 455-62.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 455-462
    • Trueba, S.S.1    Auge, J.2    Mattei, G.3
  • 21
    • 0032730383 scopus 로고    scopus 로고
    • Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)
    • Macchia PE, Mattei MG, Lapi P, Fenzi G, Di Lauro R. Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2). Biochimie 1999, 81: 433-40.
    • (1999) Biochimie , vol.81 , pp. 433-440
    • Macchia, P.E.1    Mattei, M.G.2    Lapi, P.3    Fenzi, G.4    Di Lauro, R.5
  • 22
    • 0034804293 scopus 로고    scopus 로고
    • Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis
    • Hishinuma A, Ohyama Y, Kuribayashi T, et al. Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis. Eur J Endocrinol 2001, 145: 385-9.
    • (2001) Eur J Endocrinol , vol.145 , pp. 385-389
    • Hishinuma, A.1    Ohyama, Y.2    Kuribayashi, T.3
  • 23
    • 33645819802 scopus 로고    scopus 로고
    • An investigation into FOXE1 polyalanine tract length in premature ovarian failure
    • Watkins WJ, Harris SE, Craven MJ, et al. An investigation into FOXE1 polyalanine tract length in premature ovarian failure. Mol Hum Reprod 2006, 12: 145-9.
    • (2006) Mol Hum Reprod , vol.12 , pp. 145-149
    • Watkins, W.J.1    Harris, S.E.2    Craven, M.J.3
  • 24
    • 10744223971 scopus 로고    scopus 로고
    • Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains
    • Lavoie H, Debeane F, Trinh QD, et al. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Hum Mol Genet 2003, 12: 2967-79.
    • (2003) Hum Mol Genet , vol.12 , pp. 2967-2979
    • Lavoie, H.1    Debeane, F.2    Trinh, Q.D.3
  • 26
    • 4143137652 scopus 로고    scopus 로고
    • Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate
    • Tonacchera M, Banco M, Lapi P, et al. Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. Thyroid 2004, 14: 584-8.
    • (2004) Thyroid , vol.14 , pp. 584-588
    • Tonacchera, M.1    Banco, M.2    Lapi, P.3
  • 27
    • 0141659332 scopus 로고    scopus 로고
    • Human malformation terminology
    • In: Stevenson RE, Hall JG, Goodman RM eds. Oxford: Oxford University Press
    • Stevenson RE, Hall JG. Human malformation terminology. In: Stevenson RE, Hall JG, Goodman RM eds. Human malformation and related anomalies. Oxford: Oxford University Press. 1993, 21-30.
    • Human Malformation and Related Anomalies , vol.1993 , pp. 21-30
    • Stevenson, R.E.1    Hall, J.G.2
  • 28
    • 3142624435 scopus 로고    scopus 로고
    • Mutations in the TTF-2 gene are not a common finding in patients with isolated cleft palate and choanal atresia
    • Venza M, Santarpia L, De Ponte FS, D'Alcontres Stagno F, Teti D, Benvenga S. Mutations in the TTF-2 gene are not a common finding in patients with isolated cleft palate and choanal atresia. J End Genet 2003, 3: 135-40.
    • (2003) J End Genet , vol.3 , pp. 135-140
    • Venza, M.1    Santarpia, L.2    De Ponte, F.S.3    D'Alcontres Stagno, F.4    Teti, D.5    Benvenga, S.6
  • 29
    • 0347418199 scopus 로고    scopus 로고
    • Alanine tracts: The expanding story of human illness and trinucleotide repeats
    • Brown LY, Brown SA. Alanine tracts: the expanding story of human illness and trinucleotide repeats. Trends Genet 2004, 20: 51-8.
    • (2004) Trends Genet , vol.20 , pp. 51-58
    • Brown, L.Y.1    Brown, S.A.2
  • 30
    • 0033592988 scopus 로고    scopus 로고
    • Genetic epidemiology of single-nucleotide polymorphisms
    • Collins A, Lonjou C, Morton NE. Genetic epidemiology of single-nucleotide polymorphisms. Proc Natl Acad Sci USA 1999, 96: 15173-7.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 15173-15177
    • Collins, A.1    Lonjou, C.2    Morton, N.E.3
  • 31
    • 0036137130 scopus 로고    scopus 로고
    • Linkage disequilibrium and the mapping of complex human traits
    • Weiss KM, Cark AG. Linkage disequilibrium and the mapping of complex human traits. Trends Genet 2002, 18: 19-24.
    • (2002) Trends Genet , vol.18 , pp. 19-24
    • Weiss, K.M.1    Cark, A.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.