| Title : Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio - Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| Author(s) : Matsuyama M , Sawada H , Inoue S , Hishinuma A , Sekiya R , Sato Y , Moritake H |
| Ref : Clin Pediatr Endocrinol , 31 :185 , 2022 |
| Abstract : |
| PubMedSearch : Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| PubMedID: 35928386 |
| Gene_locus related to this paper: human-TG |
| Title : Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement - Mizokami_2019_Intern.Med_58_2669 |
| Author(s) : Mizokami T , Fukata S , Kogai T , Hishinuma A , Hamada K , Maruta T , Higashi K , Tajiri J |
| Ref : Intern Med , 58 :2669 , 2019 |
| Abstract : |
| PubMedSearch : Mizokami_2019_Intern.Med_58_2669 |
| PubMedID: 31178475 |
| Gene_locus related to this paper: human-TG |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedID: 16720658 |
| Title : [Thyroglobulin gene abnormalities] - Hishinuma_2005_Rinsho.Byori_53_935 |
| Author(s) : Hishinuma A |
| Ref : Rinsho Byori , 53 :935 , 2005 |
| Abstract : |
| PubMedSearch : Hishinuma_2005_Rinsho.Byori_53_935 |
| PubMedID: 16296342 |
| 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 : |
| PubMedSearch : Hishinuma_2005_Thyroid_15_1079 |
| PubMedID: 16187918 |
| Title : Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism - Baryshev_2004_J.Mol.Endocrinol_32_903 |
| Author(s) : Baryshev M , Sargsyan E , Wallin G , Lejnieks A , Furudate S , Hishinuma A , Mkrtchian S |
| Ref : J Mol Endocrinol , 32 :903 , 2004 |
| Abstract : |
| PubMedSearch : Baryshev_2004_J.Mol.Endocrinol_32_903 |
| PubMedID: 15171721 |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Hishinuma_1998_Endocr.J_45_315 |
| PubMedID: 9790265 |