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Volumn 95, Issue 3, 2010, Pages 1000-1006

Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; IODINE 123; IODINE 131; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; THYROGLOBULIN; TRANSCRIPTION FACTOR PAX8;

EID: 77749285723     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1823     Document Type: Article
Times cited : (31)

References (35)
  • 1
    • 0036093069 scopus 로고    scopus 로고
    • Perspective: Genetic defects in the etiology of congenital hypothyroidism
    • Kopp P 2002 Perspective: genetic defects in the etiology of congenital hypothyroidism. Endocrinology 143:2019-2024
    • (2002) Endocrinology , vol.143 , pp. 2019-2024
    • Kopp, P.1
  • 2
    • 0032031728 scopus 로고    scopus 로고
    • Congenital hypothyroidism due to mutations in the sodium/ iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3′ splice site
    • Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S 1998 Congenital hypothyroidism due to mutations in the sodium/ iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3′ splice site. J Clin Invest 101:1028-1035
    • (1998) J Clin Invest , vol.101 , pp. 1028-1035
    • Pohlenz, J.1    Rosenthal, I.M.2    Weiss, R.E.3    Jhiang, S.M.4    Burant, C.5    Refetoff, S.6
  • 3
    • 33644826791 scopus 로고    scopus 로고
    • Clinical case seminar: Metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene
    • Alzahrani AS, Baitei EY, Zou M, Shi Y 2006 Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene. J Clin Endocrinol Metab 91:740-746
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 740-746
    • Alzahrani, A.S.1    Baitei, E.Y.2    Zou, M.3    Shi, Y.4
  • 4
    • 84995853515 scopus 로고
    • A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
    • Bikker H, den Hartog MT, Baas F, Gons MH, Vulsma T, de Vijlder JJ 1994 A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. J Clin Endocrinol Metab 79:248-252
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 248-252
    • Bikker, H.1    den Hartog, M.T.2    Baas, F.3    Gons, M.H.4    Vulsma, T.5    de Vijlder, J.J.6
  • 9
    • 0027512869 scopus 로고
    • Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism
    • Medeiros-Neto G, Targovnik HM, Vassart G 1993 Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Endocr Rev 14:165-183
    • (1993) Endocr Rev , vol.14 , pp. 165-183
    • Medeiros-Neto, G.1    Targovnik, H.M.2    Vassart, G.3
  • 12
    • 0019380270 scopus 로고
    • Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: Clinical, pathological, kinetic, and biochemical studies and a review of the literature
    • Cooper DS, Axelrod L, DeGroot LJ, Vickery Jr AL, Maloof F 1981 Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature. J Clin Endocrinol Metab 52:294-306
    • (1981) J Clin Endocrinol Metab , vol.52 , pp. 294-306
    • Cooper, D.S.1    Axelrod, L.2    DeGroot, L.J.3    Vickery Jr, A.L.4    Maloof, F.5
  • 13
    • 0001645226 scopus 로고
    • Malignant thyroid tumors occurring in the mouse after prolonged hormonal imbalance during the ingestion of thiouracil
    • Morris HP, Dalton AJ, Green CD 1951 Malignant thyroid tumors occurring in the mouse after prolonged hormonal imbalance during the ingestion of thiouracil. J Clin Endocrinol Metab 11:1281-1295
    • (1951) J Clin Endocrinol Metab , vol.11 , pp. 1281-1295
    • Morris, H.P.1    Dalton, A.J.2    Green, C.D.3
  • 15
    • 27944470605 scopus 로고    scopus 로고
    • S100A4 (Mts1) gene overexpression is associated with invasion and metastasis of papillary thyroid carcinoma
    • Zou M, Al-Baradie RS, Al-Hindi H, Farid NR, Shi Y 2005 S100A4 (Mts1) gene overexpression is associated with invasion and metastasis of papillary thyroid carcinoma. Br J Cancer 93:1277-1284
    • (2005) Br J Cancer , vol.93 , pp. 1277-1284
    • Zou, M.1    Al-Baradie, R.S.2    Al-Hindi, H.3    Farid, N.R.4    Shi, Y.5
  • 16
    • 33744954161 scopus 로고    scopus 로고
    • Ribonucleic acid interference targeting S100A4 (Mts1) suppresses tumor growth and metastasis of anaplastic thyroid carcinoma in a mouse model
    • Shi Y, Zou M, Collison K, Baitei EY, Al-Makhalafi Z, Farid NR, Al-Mohanna FA 2006 Ribonucleic acid interference targeting S100A4 (Mts1) suppresses tumor growth and metastasis of anaplastic thyroid carcinoma in a mouse model. J Clin Endocrinol Metab 91:2373-2379
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2373-2379
    • Shi, Y.1    Zou, M.2    Collison, K.3    Baitei, E.Y.4    Al-Makhalafi, Z.5    Farid, N.R.6    Al-Mohanna, F.A.7
  • 17
    • 0027520294 scopus 로고
    • p53 mutations in all stages of thyroid carcinomas
    • Zou M, Shi Y, Farid NR 1993 p53 mutations in all stages of thyroid carcinomas. J Clin Endocrinol Metab 77:1054-1058
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 1054-1058
    • Zou, M.1    Shi, Y.2    Farid, N.R.3
  • 20
    • 0344303638 scopus 로고    scopus 로고
    • Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease
    • Ban Y, Greenberg DA, Concepcion E, Skrabanek L, Villanueva R, Tomer Y 2003 Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Proc Natl Acad Sci USA 100:15119-15124
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 15119-15124
    • Ban, Y.1    Greenberg, D.A.2    Concepcion, E.3    Skrabanek, L.4    Villanueva, R.5    Tomer, Y.6
  • 21
    • 0041883376 scopus 로고    scopus 로고
    • Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→A [R2223H]) resulting in fetal goitrous hypothyroidism
    • Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM 2003 Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→A [R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab 88:3546-3553
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 3546-3553
    • Caron, P.1    Moya, C.M.2    Malet, D.3    Gutnisky, V.J.4    Chabardes, B.5    Rivolta, C.M.6    Targovnik, H.M.7
  • 22
    • 0035320772 scopus 로고    scopus 로고
    • Acetylcholinesterase-new roles for an old actor
    • Soreq H, Seidman S 2001 Acetylcholinesterase-new roles for an old actor. Nat Rev Neurosci 2:294-302
    • (2001) Nat Rev Neurosci , vol.2 , pp. 294-302
    • Soreq, H.1    Seidman, S.2
  • 23
    • 0032544022 scopus 로고    scopus 로고
    • A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/ cog mouse: A model of human endoplasmic reticulum storage diseases
    • Kim PS, Hossain SA, Park YN, Lee I, Yoo SE, Arvan P 1998 A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/ cog mouse: a model of human endoplasmic reticulum storage diseases. Proc Natl Acad Sci USA 95:9909-9913
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 9909-9913
    • Kim, P.S.1    Hossain, S.A.2    Park, Y.N.3    Lee, I.4    Yoo, S.E.5    Arvan, P.6
  • 24
    • 68549107644 scopus 로고    scopus 로고
    • The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation
    • Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G 2009 The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. J Clin Endocrinol Metab 94:2938-2944
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 2938-2944
    • Pardo, V.1    Vono-Toniolo, J.2    Rubio, I.G.3    Knobel, M.4    Possato, R.F.5    Targovnik, H.M.6    Kopp, P.7    Medeiros-Neto, G.8
  • 26
    • 0004888642 scopus 로고
    • Induction of neoplasms in thyroid glands of rats by subtotal thyroidectomy and by the injection of one microcurie of I-131
    • Goldberg RC, Lindsay S, Nichols Jr CW, Chaikoff IL 1964 Induction of neoplasms in thyroid glands of rats by subtotal thyroidectomy and by the injection of one microcurie of I-131. Cancer Res 24:35-43
    • (1964) Cancer Res , vol.24 , pp. 35-43
    • Goldberg, R.C.1    Lindsay, S.2    Nichols Jr, C.W.3    Chaikoff, I.L.4
  • 27
    • 0032432673 scopus 로고    scopus 로고
    • Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: Disorders of protein trafficking and the role of ER molecular chaperones
    • Kim PS, Arvan P 1998 Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: disorders of protein trafficking and the role of ER molecular chaperones. Endocr Rev 19:173-202
    • (1998) Endocr Rev , vol.19 , pp. 173-202
    • Kim, P.S.1    Arvan, P.2
  • 28
    • 0034193133 scopus 로고    scopus 로고
    • Missing secretory granules, dilated endoplasmic reticulum, and nuclear dislocation in the thyroid gland of rdw rats with hereditary dwarfism
    • Sakai Y, Yamashina S, Furudate SI 2000 Missing secretory granules, dilated endoplasmic reticulum, and nuclear dislocation in the thyroid gland of rdw rats with hereditary dwarfism. Anat Rec 259:60 -66
    • (2000) Anat Rec , vol.259 , pp. 60-66
    • Sakai, Y.1    Yamashina, S.2    Furudate, S.I.3
  • 29
    • 3042771829 scopus 로고    scopus 로고
    • Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat nongoitrous congenital hypothyroidism
    • Baryshev M, Sargsyan E, Wallin G, Lejnieks A, Furudate S, Hishinuma A, Mkrtchian S 2004 Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat nongoitrous congenital hypothyroidism. J Mol Endocrinol 32:903-920
    • (2004) J Mol Endocrinol , vol.32 , pp. 903-920
    • Baryshev, M.1    Sargsyan, E.2    Wallin, G.3    Lejnieks, A.4    Furudate, S.5    Hishinuma, A.6    Mkrtchian, S.7
  • 31
    • 0018075708 scopus 로고
    • Euthyroidism via iodide supplementation in hereditary congenital goiter with thyroglobulin deficiency
    • van Voorthuizen WF, de Vijlder JJ, van Dijk JE, Tegelaers WH 1978 Euthyroidism via iodide supplementation in hereditary congenital goiter with thyroglobulin deficiency. Endocrinology 103:2105-2111
    • (1978) Endocrinology , vol.103 , pp. 2105-2111
    • van Voorthuizen, W.F.1    de Vijlder, J.J.2    van Dijk, J.E.3    Tegelaers, W.H.4
  • 33
    • 72549096515 scopus 로고    scopus 로고
    • The association between serum TSH concentration and thyroid cancer
    • Boelaert K 2009 The association between serum TSH concentration and thyroid cancer. Endocr Relat Cancer 16:1065-1072
    • (2009) Endocr Relat Cancer , vol.16 , pp. 1065-1072
    • Boelaert, K.1
  • 34
    • 34548580330 scopus 로고    scopus 로고
    • Thyroid-stimulating hormone initiated proliferative signals converge in vivo on the mTOR kinase without activating AKT
    • Brewer C, Yeager N, Di Cristofano A 2007 Thyroid-stimulating hormone initiated proliferative signals converge in vivo on the mTOR kinase without activating AKT. Cancer Res 67:8002-8006
    • (2007) Cancer Res , vol.67 , pp. 8002-8006
    • Brewer, C.1    Yeager, N.2    Di Cristofano, A.3
  • 35
    • 26944500520 scopus 로고    scopus 로고
    • High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations
    • Hishinuma A, Fukata S, Kakudo K, Murata Y, Ieiri T 2005 High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Thyroid 15:1079-1084
    • (2005) Thyroid , vol.15 , pp. 1079-1084
    • Hishinuma, A.1    Fukata, S.2    Kakudo, K.3    Murata, Y.4    Ieiri, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.