Samuel Refetoff to Paired Box Transcription Factors
This is a "connection" page, showing publications Samuel Refetoff has written about Paired Box Transcription Factors.
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Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. Thyroid. 2013 Jul; 23(7):791-6.
Score: 0.107
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Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab. 2011 Jun; 96(6):E977-81.
Score: 0.095
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A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism. Mol Endocrinol. 2008 Feb; 22(2):501-12.
Score: 0.074
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Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci. J Clin Endocrinol Metab. 2005 Jul; 90(7):4025-34.
Score: 0.063
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Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol. 2005 Jul; 19(7):1779-91.
Score: 0.062
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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: 0.059
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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
Score: 0.052
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Generation of functional thyroid from embryonic stem cells. Nature. 2012 Nov 01; 491(7422):66-71.
Score: 0.026