Samuel Refetoff to Base Sequence
This is a "connection" page, showing publications Samuel Refetoff has written about Base Sequence.
Connection Strength
1.071
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Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7.
Score: 0.047
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Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem. 2006 Jul 07; 281(27):18269-72.
Score: 0.047
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Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. J Pediatr Endocrinol Metab. 2004 Jul; 17(7):1021-9.
Score: 0.041
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A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1). J Endocrinol Invest. 2004 Apr; 27(4):318-22.
Score: 0.041
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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004 Jan; 74(1):168-75.
Score: 0.040
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Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Mol Endocrinol. 2003 Nov; 17(11):2295-302.
Score: 0.039
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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. J Clin Endocrinol Metab. 2002 Mar; 87(3):1045-51.
Score: 0.035
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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 Oct; 83(10):3604-8.
Score: 0.028
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Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Thyroid. 1998 Feb; 8(2):161-5.
Score: 0.026
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Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab. 1997 Dec; 82(12):3933-40.
Score: 0.026
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Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. Biochem Biophys Res Commun. 1997 Nov 17; 240(2):488-91.
Score: 0.026
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A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. J Clin Endocrinol Metab. 1996 Sep; 81(9):3335-40.
Score: 0.024
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Resistance to thyrotropin and other abnormalities of the thyrotropin receptor. Recent Prog Horm Res. 1996; 51:97-120; discussion 120-2.
Score: 0.023
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Thyroxine-binding globulin: organization of the gene and variants. Horm Res. 1996; 45(3-5):128-38.
Score: 0.023
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Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? J Clin Endocrinol Metab. 1995 Nov; 80(11):3246-56.
Score: 0.023
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Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995 01 19; 332(3):155-60.
Score: 0.021
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Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab. 1995 Jan; 80(1):116-21.
Score: 0.021
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Expression of a thyroid hormone-responsive recombinant gene introduced into adult mice livers by replication-defective adenovirus can be regulated by endogenous thyroid hormone receptor. J Biol Chem. 1994 Sep 30; 269(39):23872-5.
Score: 0.021
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Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1994 Jun; 78(6):1525-8.
Score: 0.021
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A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab. 1994 May; 78(5):1253-6.
Score: 0.020
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Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. Thyroid. 1994; 4(3):249-54.
Score: 0.020
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Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid. 1994; 4(2):147-9.
Score: 0.020
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Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol. 1993 Aug; 7(8):1049-60.
Score: 0.019
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The syndromes of resistance to thyroid hormone. Endocr Rev. 1993 Jun; 14(3):348-99.
Score: 0.019
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Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest. 1993 Jun; 91(6):2408-15.
Score: 0.019
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Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab. 1993 Jan; 76(1):257-9.
Score: 0.019
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The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products. J Clin Endocrinol Metab. 1993 Jan; 76(1):64-9.
Score: 0.019
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A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies. J Pediatr Endocrinol Metab. 2013; 26(1-2):119-23.
Score: 0.019
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Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. Biochim Biophys Acta. 1992 Aug 25; 1139(4):307-10.
Score: 0.018
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In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113. J Biol Chem. 1992 Jul 15; 267(20):13998-4004.
Score: 0.018
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Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 1992 Apr; 74(4):712-9.
Score: 0.018
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Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. Metabolism. 1991 Nov; 40(11):1231-4.
Score: 0.017
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Molecular cloning and primary structure of rat thyroxine-binding globulin. Biochemistry. 1991 Jun 04; 30(22):5406-11.
Score: 0.017
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Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. Hum Genet. 1991 Jun; 87(2):119-22.
Score: 0.017
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Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions. Am J Hum Genet. 1991 Apr; 48(4):741-4.
Score: 0.016
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Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. J Clin Invest. 1991 Feb; 87(2):496-502.
Score: 0.016
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Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks. J Endocrinol Invest. 1990 Apr; 13(4):343-9.
Score: 0.015
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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 Mar; 70(3):804-9.
Score: 0.015
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Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties. J Clin Invest. 1989 Apr; 83(4):1344-8.
Score: 0.014
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A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule. Mol Endocrinol. 1989 Mar; 3(3):575-9.
Score: 0.014
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Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 2008 Feb; 93(2):605-10.
Score: 0.013
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TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl). 2006 Oct; 84(10):864-71.
Score: 0.012
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Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I). Mol Endocrinol. 2006 Apr; 20(4):893-903.
Score: 0.011
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Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 alpha and beta isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart. Eur J Endocrinol. 2004 Mar; 150(3):371-80.
Score: 0.010
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Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo. J Clin Invest. 2003 Aug; 112(4):588-97.
Score: 0.010
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Type 1 iodothyronine deiodinase in the house musk shrew (Suncus murinus, Insectivora: Soricidae): cloning and characterization of complementary DNA, unique tissue distribution and regulation by T(3). Gen Comp Endocrinol. 2002 Jun 01; 127(1):48-58.
Score: 0.009
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Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73.
Score: 0.009
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Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene. Thyroid. 2000 May; 10(5):387-91.
Score: 0.008
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The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. Thyroid. 1999 Sep; 9(9):887-94.
Score: 0.007
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Responsiveness to thyroid hormone is enhanced in rat hepatocytes cultured as spheroids compared with that in monolayers: altered responsiveness to thyroid hormone possibly involves complex formed on thyroid hormone response elements. Thyroid. 1999 Sep; 9(9):959-67.
Score: 0.007
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Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago. J Biol Chem. 1995 Nov 24; 270(47):28234-8.
Score: 0.006
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Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase. Biochem J. 1995 Aug 01; 309 ( Pt 3):837-43.
Score: 0.006
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Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants. Endocrinology. 1995 Jul; 136(7):2845-51.
Score: 0.006
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Radioiodine labeling of ribopolymers for special applications in biology. Methods Cell Biol. 1975; 10:343-59.
Score: 0.005
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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 Feb; 40(2):221-6.
Score: 0.005
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Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci U S A. 1989 Nov; 86(22):8977-81.
Score: 0.004