Samuel Refetoff to Membrane Proteins
This is a "connection" page, showing publications Samuel Refetoff has written about Membrane Proteins.
Connection Strength
1.743
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Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest. 2020 Jan; 43(1):31-41.
Score: 0.437
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Mice deficient in dual oxidase maturation factors are severely hypothyroid. Mol Endocrinol. 2012 Mar; 26(3):481-92.
Score: 0.260
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Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. Mol Endocrinol. 2007 Jun; 21(6):1408-21.
Score: 0.186
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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: 0.175
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Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie. 1999 May; 81(5):469-76.
Score: 0.108
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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J Clin Invest. 1998 Mar 01; 101(5):1028-35.
Score: 0.099
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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: 0.097
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TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice. Endocrinology. 2017 04 01; 158(4):815-830.
Score: 0.093
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Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 2011 Aug; 23(4):421-8.
Score: 0.063
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A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab. 2011 May; 96(5):E841-5.
Score: 0.061
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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: 0.049
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Regulation of glycosaminoglycan synthesis by thyroid hormone in vitro. J Clin Invest. 1982 Nov; 70(5):1066-73.
Score: 0.034
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Autoantibodies from patients with autoimmune thyroid disease do not interfere with the activity of the human iodide symporter gene stably transfected in CHO cells. Eur J Endocrinol. 2001 Jun; 144(6):611-8.
Score: 0.031
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Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters. J Clin Endocrinol Metab. 2000 Jul; 85(7):2366-9.
Score: 0.029
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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: 0.021