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Inherited defects of thyroxine-binding proteins.
Pappa T, Ferrara AM, Refetoff S. Pappa T, et al. Best Pract Res Clin Endocrinol Metab. 2015 Oct;29(5):735-47. doi: 10.1016/j.beem.2015.09.002. Epub 2015 Sep 30. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 26522458 Free PMC article. Review.
Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.
Fang Y, Chen H, Chen Q, Wang C, Liang L. Fang Y, et al. Mol Genet Genomic Med. 2021 Feb;9(2):e1571. doi: 10.1002/mgg3.1571. Epub 2021 Feb 7. Mol Genet Genomic Med. 2021. PMID: 33554479 Free PMC article.
BACKGROUND: Thyroxine-binding globulin (TBG) is encoded by SERPINA7 (OMIM. 314200) which is located on Xq22.3. SERPINA7 variants caused TBG deficiency which does not require treatment, but the decreased thyroxine may be misdiagnosed as hypothyroidism. ...
BACKGROUND: Thyroxine-binding globulin (TBG) is encoded by SERPINA7 (OMIM. 314200) which is located on Xq22.3. SERPINA7 variants caused T …
Directional thyroid hormone distribution via the blood stream to target sites.
Janssen ST, Janssen OE. Janssen ST, et al. Mol Cell Endocrinol. 2017 Dec 15;458:16-21. doi: 10.1016/j.mce.2017.02.037. Epub 2017 Feb 28. Mol Cell Endocrinol. 2017. PMID: 28257828 Review.
Combination defects of either a high affinity TTR or HSA variant do not compensate TBG deficiency, underscoring the dominant role of TBG among the thyroid hormone transport proteins. ...
Combination defects of either a high affinity TTR or HSA variant do not compensate TBG deficiency, underscoring the dominant r …
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. Heo J, et al. Endocrinol Metab (Seoul). 2022 Dec;37(6):870-878. doi: 10.3803/EnM.2022.1591. Epub 2022 Dec 7. Endocrinol Metab (Seoul). 2022. PMID: 36475360 Free PMC article.
The serpin family A member 7 (SERPINA7) gene codes for TBG, and mutations of the SERPINA7 gene result in TBG deficiency. Although more than 40 mutations have been reported in several countries, only a few studies of TBG deficiency and SERPINA7 gene mut …
The serpin family A member 7 (SERPINA7) gene codes for TBG, and mutations of the SERPINA7 gene result in TBG deficiency. Altho …
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. Gomes-Lima CJ, et al. Gene. 2018 Aug 5;666:58-63. doi: 10.1016/j.gene.2018.05.018. Epub 2018 May 4. Gene. 2018. PMID: 29733970
OBJECTIVE: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein, encoded by the SERPINA7 gene (Xq22.2). We aim to investigate the molecular basis of partial TBG deficiency (TBG-PD) in a female, by evaluating the X-chromosome inactiva …
OBJECTIVE: Thyroxine-binding globulin (TBG) is the major human thyroid hormone transport protein, encoded by the SERPINA7 gene (Xq22.2). We …
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. Gawandi S, et al. J Endocrinol Invest. 2022 Apr;45(4):731-739. doi: 10.1007/s40618-021-01697-z. Epub 2021 Nov 10. J Endocrinol Invest. 2022. PMID: 34761328
PURPOSE: This study presents a case of familial transmission of thyroxine-binding globulin (TBG) deficiency. The SERPINA7-gene which codes for TBG is located on the X-chromosome (Xq21-22). More than 45 mutations have been reported to cause TBG- deficiency …
PURPOSE: This study presents a case of familial transmission of thyroxine-binding globulin (TBG) deficiency. The SERPINA7-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. Chen LD, et al. J Endocrinol Invest. 2020 Dec;43(12):1703-1710. doi: 10.1007/s40618-020-01245-1. Epub 2020 Apr 7. J Endocrinol Invest. 2020. PMID: 32266677
This study was performed to report and evaluate coding region mutations in TBG gene for partial thyroxine-binding globulin deficiency. METHODS: A pedigree spanning four generations is described in this study. ...Both mutations were deleterious upon SIF …
This study was performed to report and evaluate coding region mutations in TBG gene for partial thyroxine-binding globulin …
Detecting Congenital Central Hypothyroidism by Newborn Screening: Difficulty in Distinguishing from Congenital Thyroxine-Binding Globulin Deficiency.
Connelly KJ, Pierce MJ, Hanna C, LaFranchi SH. Connelly KJ, et al. Horm Res Paediatr. 2017;88(5):331-338. doi: 10.1159/000479367. Epub 2017 Sep 14. Horm Res Paediatr. 2017. PMID: 28910808
BACKGROUND/AIMS: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex thyroid-stimulating hormone (TSH) test approach. CH-C must be distinguished from T4-binding globulin (TBG) deficiency. We sou …
BACKGROUND/AIMS: Congenital central hypothyroidism (CH-C) can be detected on newborn screening (NBS) by programs using thyroxine (T4)-reflex …
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. Ferrara AM, et al. J Clin Endocrinol Metab. 2015 Jan;100(1):E173-81. doi: 10.1210/jc.2014-3490. J Clin Endocrinol Metab. 2015. PMID: 25361180 Free PMC article.
The inherited form of TBG deficiency is usually due to a mutation in the TBG gene located on the X-chromosome. ...The aim of the study was to identify the mechanism of TBG deficiency in these four families using biochemical and genetic studies. ...
The inherited form of TBG deficiency is usually due to a mutation in the TBG gene located on the X-chromosome. ...The aim of t …
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