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| Title : Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity - Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| Author(s) : Kanou Y , Hishinuma A , Tsunekawa K , Seki K , Mizuno Y , Fujisawa H , Imai T , Miura Y , Nagasaka T , Yamada C , Ieiri T , Murakami M , Murata Y |
| Ref : J Clinical Endocrinology Metab , 92 :1451 , 2007 |
| Abstract : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| ESTHER : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| PubMedSearch : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| PubMedID: 17244789 |
| Title : A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels - Kitanaka_2006_J.Hum.Genet_51_379 |
| Author(s) : Kitanaka S , Takeda A , Sato U , Miki Y , Hishinuma A , Ieiri T , Igarashi T |
| Ref : J Hum Genet , 51 :379 , 2006 |
| Abstract : Kitanaka_2006_J.Hum.Genet_51_379 |
| ESTHER : Kitanaka_2006_J.Hum.Genet_51_379 |
| PubMedSearch : Kitanaka_2006_J.Hum.Genet_51_379 |
| PubMedID: 16477365 |
| Title : Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan - Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| Author(s) : Hishinuma A , Fukata S , Nishiyama S , Nishi Y , Oh-Ishi M , Murata Y , Ohyama Y , Matsuura N , Kasai K , Harada S , Kitanaka S , Takamatsu J , Kiwaki K , Ohye H , Uruno T , Tomoda C , Tajima T , Kuma K , Miyauchi A , Ieiri T |
| Ref : J Clinical Endocrinology Metab , 91 :3100 , 2006 |
| Abstract : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| ESTHER : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedSearch : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedID: 16720658 |
| Title : High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations - Hishinuma_2005_Thyroid_15_1079 |
| Author(s) : Hishinuma A , Fukata S , Kakudo K , Murata Y , Ieiri T |
| Ref : Thyroid , 15 :1079 , 2005 |
| Abstract : Hishinuma_2005_Thyroid_15_1079 |
| ESTHER : Hishinuma_2005_Thyroid_15_1079 |
| PubMedSearch : Hishinuma_2005_Thyroid_15_1079 |
| PubMedID: 16187918 |
| Title : A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats - Hishinuma_2000_Endocrinology_141_4050 |
| Author(s) : Hishinuma A , Furudate S , Oh-Ishi M , Nagakubo N , Namatame T , Ieiri T |
| Ref : Endocrinology , 141 :4050 , 2000 |
| Abstract : Hishinuma_2000_Endocrinology_141_4050 |
| ESTHER : Hishinuma_2000_Endocrinology_141_4050 |
| PubMedSearch : Hishinuma_2000_Endocrinology_141_4050 |
| PubMedID: 11089535 |
| Gene_locus related to this paper: ratno-thyro |
| Title : Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter - Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| Author(s) : Hishinuma A , Takamatsu J , Ohyama Y , Yokozawa T , Kanno Y , Kuma K , Yoshida S , Matsuura N , Ieiri T |
| Ref : J Clinical Endocrinology Metab , 84 :1438 , 1999 |
| Abstract : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| ESTHER : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| PubMedSearch : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| PubMedID: 10199792 |
| Title : Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport - Hishinuma_1998_Endocr.J_45_315 |
| Author(s) : Hishinuma A , Kasai K , Masawa N , Kanno Y , Arimura M , Shimoda SI , Ieiri T |
| Ref : Endocrine Journal , 45 :315 , 1998 |
| Abstract : Hishinuma_1998_Endocr.J_45_315 |
| ESTHER : Hishinuma_1998_Endocr.J_45_315 |
| PubMedSearch : Hishinuma_1998_Endocr.J_45_315 |
| PubMedID: 9790265 |
| Title : [Thyroglobulin (Tg) gene and familial Tg synthesis defect] - Ieiri_1994_Nihon.Rinsho_52_869 |
| Author(s) : Ieiri T |
| Ref : Nihon Rinsho , 52 :869 , 1994 |
| Abstract : Ieiri_1994_Nihon.Rinsho_52_869 |
| ESTHER : Ieiri_1994_Nihon.Rinsho_52_869 |
| PubMedSearch : Ieiri_1994_Nihon.Rinsho_52_869 |
| PubMedID: 8196172 |
| Title : [Identification of a 3' splice site mutation in the thyroglobulin gene in a case of congenital familial goiter] - Ieiri_1992_Nippon.Naibunpi.Gakkai.Zasshi_68_752 |
| Author(s) : Ieiri T , Kuroda H , Emoto T , Masawa N , Hasegawa K , Shimoda S |
| Ref : Nippon Naibunpi Gakkai Zasshi , 68 :752 , 1992 |
| Abstract : Ieiri_1992_Nippon.Naibunpi.Gakkai.Zasshi_68_752 |
| ESTHER : Ieiri_1992_Nippon.Naibunpi.Gakkai.Zasshi_68_752 |
| PubMedSearch : Ieiri_1992_Nippon.Naibunpi.Gakkai.Zasshi_68_752 |
| PubMedID: 1397384 |
| Title : A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism - Ieiri_1991_J.Clin.Invest_88_1901 |
| Author(s) : Ieiri T , Cochaux P , Targovnik HM , Suzuki M , Shimoda S , Perret J , Vassart G |
| Ref : J Clinical Investigation , 88 :1901 , 1991 |
| Abstract : Ieiri_1991_J.Clin.Invest_88_1901 |
| ESTHER : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedSearch : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedID: 1752952 |
| Title : Identification of a splicing mutation responsible for a human hereditary goiter with hypothyroidism. (Abstract) - |
| Author(s) : Cochaux P , Ieiri T , Targovnik H , Suzuki M , Shimoda SI , Perret J , Vassart G |
| Ref : American Journal of Human Genetics , 49 (suppl.) :131 , 1991 |
| PubMedID: |