| Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea. | Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.
Heo J, Kim SM, Ryu HJ, Park H, Kim TH, Chung JH, Park HD, Kim SW., Free PMC Article | 01/14/2023 |
| Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function. | Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.
Gawandi S, Jothivel K, Kulkarni S. | 05/21/2022 |
| The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency. | The decrease of T3 / T4 is not hypothyroidism - a new mutation of Serpina7 gene results in partial thyroglobulin deficiency.
Cao L, Lou X, Zhou L, Wu Y. | 04/16/2022 |
| Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene. | Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene.
Chen LD, Lu HJ, Gan YL, Pang SW, Zheng Q, Ye DM, Huang XY, Qi HN, Xu WB, Wen XZ, Li LH, Li L. | 08/28/2021 |
| Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency. | Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
Fang Y, Chen H, Chen Q, Wang C, Liang L., Free PMC Article | 08/7/2021 |
| A new SERPINA7 variant associated with thyroxine-binding globulin deficiency in three siblings. | Thyroxine-binding globulin deficiency due to a novel SERPINA7 mutation: Clinical characterization, analysis of X-chromosome inactivation pattern and protein structural modeling.
Gomes-Lima CJ, Maciel AAFL, Andrade MO, Cunha VSD, Mazzeu JF, Bleicher L, Neves FAR, Lofrano-Porto A. | 06/16/2018 |
| THBG is a potential plasma biomarker for COPD. | Identification of thyroxine-binding globulin as a candidate plasma marker of chronic obstructive pulmonary disease.
Diao W, Shen N, Du Y, Sun X, Liu B, Xu M, He B., Free PMC Article | 03/24/2018 |
| mutation in a liver-specific enhancer region of the TBG gene caused inherited TBG deficiency. To our knowledge, the present study is the first report of an inherited endocrine disorder caused by a mutation in an enhancer region. | A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S., Free PMC Article | 07/25/2015 |
| TBG allosteric regulation is entropy driven. The presence of multiple S states may allow more efficient T4 release due to protease activity. | The allosteric modulation of thyroxine-binding globulin affinity is entropy driven.
Petruk AA, Labanda MS, Alvarez RM, Marti MA. | 08/10/2013 |
| the TBG promoter has a role in sustaining transgene expression in liver-specific pattern | Human thyroxine binding globulin (TBG) promoter directs efficient and sustaining transgene expression in liver-specific pattern.
Yan Z, Yan H, Ou H. | 10/20/2012 |
| Allosteric modulation of hormone release from thyroxine and corticosteroid-binding globulins. | Allosteric modulation of hormone release from thyroxine and corticosteroid-binding globulins.
Qi X, Loiseau F, Chan WL, Yan Y, Wei Z, Milroy LG, Myers RM, Ley SV, Read RJ, Carrell RW, Zhou A., Free PMC Article | 07/2/2011 |
| Freshly isolated TBG-Chicago exists in loop expelled conformation. At 37C, the protein readily converts to a more stable loop inserted conformation with enhanced heat stability. | Explanation for the high heat stability of thyroxine binding globulin-Chicago.
Duhan U, Patston P. | 08/30/2010 |
| new serpina7 gene variant in three members of the same family results in the replacement of the normal asparagine 233 by isoleucine and, subsequently, in disruption of a glycosylation site | A novel variant in Serpina7 gene in a family with thyroxine-binding globulin deficiency.
Domingues R, Font P, Sobrinho L, Bugalho MJ. | 01/21/2010 |
| guanine deletion at position 1711, codon 201 (Asp) in exon 2 (GAC --> AC) led to a frame shift and premature termination at codon 206, causing a short TBG protein of 205 amino acids (AA) compared to 395 AA of the normal TBG. | A novel mutation (del 1711 G) in the TBG gene as a cause of complete TBG deficiency.
Lacka K, Nizankowska T, Ogrodowicz A, Lacki JK. | 01/21/2010 |
| Loop variants of the serpin thyroxine-binding globulin: implications for hormone release upon limited proteolysis. | Loop variants of the serpin thyroxine-binding globulin: implications for hormone release upon limited proteolysis.
Grasberger H, Golcher HM, Fingerhut A, Janssen OE., Free PMC Article | 01/21/2010 |
| Two novel variants in the thyroxine-binding globulin gene behind the diagnosis of TBG deficiency. homozygous. One involved codon 23 (TCA-->TAA) and the other, codon 223. | Two novel variants in the thyroxine-binding globulin (TBG) gene behind the diagnosis of TBG deficiency.
Domingues R, Bugalho MJ, Garrão A, Boavida JM, Sobrinho L. | 01/21/2010 |
| an intragenic A/G polymorphism (125 bp upstream from exon 2) was identified. complete TBG deficiency was homozygous for the polymorphic TBG allele. | Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
Reutrakul S, Dumitrescu A, Macchia PE, Moll GW Jr, Vierhapper H, Refetoff S. | 01/21/2010 |
| The first exon (exon 0) is a short noncoding sequence located 1.62 kilobase pairs (kbp) upstream from exon 1. HNF-1 site (located 65 bp upstream of the TSS) is required for the hepatocyte specific expression of the hTBG gene. | Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.
Hayashi Y, Mori Y, Janssen OE, Sunthornthepvarakul T, Weiss RE, Takeda K, Weinberg M, Seo H, Bell GI, Refetoff S. | 06/3/2005 |