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For: Mori Y, Takeda K, Charbonneau M, Refetoff S. Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. J Clin Endocrinol Metab 1990;70:804-9. [PMID: 2155256 DOI: 10.1210/jcem-70-3-804] [Citation(s) in RCA: 33] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
Number Cited by Other Article(s)
1
Haigis AC, Vergauwen L, LaLone CA, Villeneuve DL, O'Brien JM, Knapen D. Cross-species applicability of an adverse outcome pathway network for thyroid hormone system disruption. Toxicol Sci 2023;195:1-27. [PMID: 37405877 DOI: 10.1093/toxsci/kfad063] [Citation(s) in RCA: 11] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 07/07/2023]  Open
2
Fang Y, Chen H, Chen Q, Wang C, Liang L. Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency. Mol Genet Genomic Med 2021;9:e1571. [PMID: 33554479 PMCID: PMC8077092 DOI: 10.1002/mgg3.1571] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/04/2020] [Revised: 09/17/2020] [Accepted: 10/29/2020] [Indexed: 11/30/2022]  Open
3
Chen LD, Lu HJ, Gan YL, Pang SW, Zheng Q, Ye DM, Huang XY, Qi HN, Xu WB, Wen XZ, Li LH, Li L. Partial thyroxine-binding globulin deficiency in a family with coding region mutations in the TBG gene. J Endocrinol Invest 2020;43:1703-1710. [PMID: 32266677 DOI: 10.1007/s40618-020-01245-1] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/01/2020] [Accepted: 03/30/2020] [Indexed: 12/20/2022]
4
Dang PP, Xiao WW, Shan ZY, Xi Y, Wang RR, Yu XH, Teng WP, Teng XC. Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report. World J Clin Cases 2019;7:3887-3894. [PMID: 31799319 PMCID: PMC6887617 DOI: 10.12998/wjcc.v7.i22.3887] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/29/2019] [Revised: 10/17/2019] [Accepted: 10/29/2019] [Indexed: 02/05/2023]  Open
5
Junarta J, Jha V, Banerjee D. Insight into the impact of vitamin D on cardiovascular outcomes in chronic kidney disease. Nephrology (Carlton) 2019;24:781-790. [DOI: 10.1111/nep.13569] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/21/2019] [Indexed: 02/06/2023]
6
Schweizer U, Towell H, Vit A, Rodriguez-Ruiz A, Steegborn C. Structural aspects of thyroid hormone binding to proteins and competitive interactions with natural and synthetic compounds. Mol Cell Endocrinol 2017;458:57-67. [PMID: 28131741 DOI: 10.1016/j.mce.2017.01.026] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/06/2016] [Revised: 01/11/2017] [Accepted: 01/17/2017] [Indexed: 12/25/2022]
7
Korevaar TIM, Chaker L, Medici M, de Rijke YB, Jaddoe VWV, Steegers EAP, Tiemeier H, Visser TJ, Peeters RP. Maternal total T4 during the first half of pregnancy: physiologic aspects and the risk of adverse outcomes in comparison with free T4. Clin Endocrinol (Oxf) 2016;85:757-763. [PMID: 27187054 DOI: 10.1111/cen.13106] [Citation(s) in RCA: 27] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/13/2016] [Revised: 05/10/2016] [Accepted: 05/12/2016] [Indexed: 11/27/2022]
8
Soheilipour F, Fazilaty H, Jesmi F, Gahl WA, Behnam B. First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7. Mol Genet Metab Rep 2016;8:13-6. [PMID: 27331012 PMCID: PMC4909823 DOI: 10.1016/j.ymgmr.2016.06.001] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/11/2016] [Revised: 06/06/2016] [Accepted: 06/06/2016] [Indexed: 02/08/2023]  Open
9
Moeller LC, Appiagyei-Dankah Y, Köhler B, Biebermann H, Janssen OE, Führer D. Two Novel Mutations in the Serpina7 Gene Are Associated with Complete Deficiency of Thyroxine-Binding Globulin. Eur Thyroid J 2015;4:108-12. [PMID: 26601081 PMCID: PMC4640287 DOI: 10.1159/000381093] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/11/2014] [Revised: 02/17/2015] [Indexed: 01/04/2023]  Open
10
Lacka K, Maciejewski A. Rare thyroid non-neoplastic diseases. Thyroid Res 2015;8:5. [PMID: 25908941 PMCID: PMC4407423 DOI: 10.1186/s13044-015-0017-3] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/27/2015] [Accepted: 03/27/2015] [Indexed: 12/17/2022]  Open
11
Powe CE, Evans MK, Wenger J, Zonderman AB, Berg AH, Nalls M, Tamez H, Zhang D, Bhan I, Karumanchi SA, Powe NR, Thadhani R. Vitamin D-binding protein and vitamin D status of black Americans and white Americans. N Engl J Med 2013;369:1991-2000. [PMID: 24256378 PMCID: PMC4030388 DOI: 10.1056/nejmoa1306357] [Citation(s) in RCA: 796] [Impact Index Per Article: 66.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/14/2022]
12
Lacka K, Nizankowska T, Ogrodowicz A, Lacki JK. A novel mutation (del 1711 G) in the TBG gene as a cause of complete TBG deficiency. Thyroid 2007;17:1143-6. [PMID: 17887925 DOI: 10.1089/thy.2007.0023] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
13
Mannavola D, Vannucchi G, Fugazzola L, Cirello V, Campi I, Radetti G, Persani L, Refetoff S, Beck-Peccoz P. TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl) 2006;84:864-71. [PMID: 16947003 DOI: 10.1007/s00109-006-0078-9] [Citation(s) in RCA: 22] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/15/2005] [Accepted: 05/02/2006] [Indexed: 12/23/2022]
14
Moeller LC, Fingerhut A, Lahner H, Grasberger H, Weimer B, Happ J, Mann K, Janssen OE. C-terminal amino acid alteration rather than late termination causes complete deficiency of thyroxine-binding globulin CD-NeuIsenburg. J Clin Endocrinol Metab 2006;91:3215-8. [PMID: 16735497 DOI: 10.1210/jc.2005-2261] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/27/2022]
15
Yue P, Moult J. Identification and analysis of deleterious human SNPs. J Mol Biol 2005;356:1263-74. [PMID: 16412461 DOI: 10.1016/j.jmb.2005.12.025] [Citation(s) in RCA: 204] [Impact Index Per Article: 10.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/06/2005] [Revised: 12/04/2005] [Accepted: 12/08/2005] [Indexed: 11/23/2022]
16
Knobel M, Medeiros-Neto G. An outline of inherited disorders of the thyroid hormone generating system. Thyroid 2003;13:771-801. [PMID: 14558921 DOI: 10.1089/105072503768499671] [Citation(s) in RCA: 46] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/14/2023]
17
Su CC, Wu YC, Chiu CY, Won JGS, Jap TS. Two novel mutations in the gene encoding thyroxine-binding globulin (TBG) as a cause of complete TBG deficiency in Taiwan. Clin Endocrinol (Oxf) 2003;58:409-14. [PMID: 12641622 DOI: 10.1046/j.1365-2265.2003.01730.x] [Citation(s) in RCA: 14] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/20/2022]
18
Schreiber G. The evolution of transthyretin synthesis in the choroid plexus. Clin Chem Lab Med 2002;40:1200-10. [PMID: 12553420 DOI: 10.1515/cclm.2002.210] [Citation(s) in RCA: 30] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/22/2022]
19
Prapunpoj P, Richardson SJ, Schreiber G. Crocodile transthyretin: structure, function, and evolution. Am J Physiol Regul Integr Comp Physiol 2002;283:R885-96. [PMID: 12228058 DOI: 10.1152/ajpregu.00042.2002] [Citation(s) in RCA: 24] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/07/2023]
20
Miura Y, Hershkovitz E, Inagaki A, Parvari R, Oiso Y, Phillip M. A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel. J Clin Endocrinol Metab 2000;85:3687-9. [PMID: 11061524 DOI: 10.1210/jcem.85.10.6899] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
21
Carvalho GA, Weiss RE, Refetoff S. Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab 1998;83:3604-8. [PMID: 9768672 DOI: 10.1210/jcem.83.10.5208] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
22
Carvalho GA, Weiss RE, Vladutiu AO, Refetoff S. Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Thyroid 1998;8:161-5. [PMID: 9510125 DOI: 10.1089/thy.1998.8.161] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
23
Langsteger W. Clinical aspects and diagnosis of thyroid hormone transport protein anomalies. CURRENT TOPICS IN PATHOLOGY. ERGEBNISSE DER PATHOLOGIE 1997;91:129-61. [PMID: 9018920 DOI: 10.1007/978-3-642-60531-4_10] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
24
Janssen OE, Chen B, Büttner C, Refetoff S, Scriba PC. Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago. J Biol Chem 1995;270:28234-8. [PMID: 7499319 DOI: 10.1074/jbc.270.47.28234] [Citation(s) in RCA: 15] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]  Open
25
Mori Y, Miura Y, Oiso Y, Hisao S, Takazumi K. Precise localization of the human thyroxine-binding globulin gene to chromosome Xq22.2 by fluorescence in situ hybridization. Hum Genet 1995;96:481-2. [PMID: 7557975 DOI: 10.1007/bf00191811] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/25/2023]
26
Takeda K, Iyota K, Mori Y, Tamura Y, Suehiro T, Kubo Y, Refetoff S, Hashimoto K. Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation. Clin Endocrinol (Oxf) 1994;40:221-6. [PMID: 8137521 DOI: 10.1111/j.1365-2265.1994.tb02472.x] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
27
Bartalena L. Studies on thyroxine-binding globulin. J Endocrinol Invest 1993;16:353-71. [PMID: 8320428 DOI: 10.1007/bf03348858] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
28
Bertenshaw R, Sarne D, Tornari J, Weinberg M, Refetoff S. Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. BIOCHIMICA ET BIOPHYSICA ACTA 1992;1139:307-10. [PMID: 1515456 DOI: 10.1016/0925-4439(92)90105-v] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 12/27/2022]
29
In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113. J Biol Chem 1992. [DOI: 10.1016/s0021-9258(19)49669-5] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/23/2022]  Open
30
Janssen OE, Bertenshaw R, Takeda K, Weiss R, Refetoff S. Molecular basis of inherited thyroxine-binding globulin defects. Trends Endocrinol Metab 1992;3:49-53. [PMID: 18407078 DOI: 10.1016/1043-2760(92)90043-z] [Citation(s) in RCA: 20] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/31/2022]
31
Bartalena L, Robbins J. Variations in thyroid hormone transport proteins and their clinical implications. Thyroid 1992;2:237-45. [PMID: 1422238 DOI: 10.1089/thy.1992.2.237] [Citation(s) in RCA: 56] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/27/2022]
32
Li P, Janssen OE, Takeda K, Bertenshaw RH, Refetoff S. Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. Metabolism 1991;40:1231-4. [PMID: 1943753 DOI: 10.1016/0026-0495(91)90221-h] [Citation(s) in RCA: 25] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/29/2022]
33
Nørby S, Lestienne P, Nelson I, Rosenberg T. Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming. Biochem Biophys Res Commun 1991;175:631-6. [PMID: 2018507 DOI: 10.1016/0006-291x(91)91612-g] [Citation(s) in RCA: 13] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/29/2022]
34
Waltz MR, Pullman TN, Takeda K, Sobieszczyk P, Refetoff S. Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks. J Endocrinol Invest 1990;13:343-9. [PMID: 2115061 DOI: 10.1007/bf03349576] [Citation(s) in RCA: 21] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/30/2022]
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