The University of Chicago Header Logo

Connection

Co-Authors

Back to Details
This is a "connection" page, showing publications co-authored by Samuel Refetoff and Alexandra M. Dumitrescu.
Samuel Refetoff
Connection Strength
9.381
Alexandra M. Dumitrescu
  1. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003.
    View in: PubMed
    Score: 0.480
  2. Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8.
    View in: PubMed
    Score: 0.438
  3. The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
    View in: PubMed
    Score: 0.407
  4. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007 Jun; 21(2):277-305.
    View in: PubMed
    Score: 0.334
  5. Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139.
    View in: PubMed
    Score: 0.325
  6. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43.
    View in: PubMed
    Score: 0.311
  7. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
    View in: PubMed
    Score: 0.299
  8. 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.
    View in: PubMed
    Score: 0.262
  9. A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
    View in: PubMed
    Score: 0.239
  10. Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339.
    View in: PubMed
    Score: 0.232
  11. Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
    View in: PubMed
    Score: 0.211
  12. Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation. Thyroid. 2021 05; 31(5):713-720.
    View in: PubMed
    Score: 0.210
  13. Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland. Thyroid. 2020 04; 30(4):640-642.
    View in: PubMed
    Score: 0.201
  14. Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants. Thyroid. 2020 03; 30(3):463-465.
    View in: PubMed
    Score: 0.201
  15. A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance. Eur Thyroid J. 2019 Dec; 8(6):293-297.
    View in: PubMed
    Score: 0.198
  16. Very Severe Resistance to Thyroid Hormone ? in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 10; 29(10):1518-1520.
    View in: PubMed
    Score: 0.196
  17. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782.
    View in: PubMed
    Score: 0.191
  18. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814.
    View in: PubMed
    Score: 0.179
  19. Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782.
    View in: PubMed
    Score: 0.171
  20. Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice. J Clin Endocrinol Metab. 2017 09 01; 102(9):3234-3240.
    View in: PubMed
    Score: 0.170
  21. Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice. Thyroid. 2016 09; 26(9):1311-9.
    View in: PubMed
    Score: 0.158
  22. The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency. Endocrinology. 2015 Nov; 156(11):3889-94.
    View in: PubMed
    Score: 0.148
  23. A TSH? Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76.
    View in: PubMed
    Score: 0.146
  24. A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81.
    View in: PubMed
    Score: 0.141
  25. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014; 2014(1):23.
    View in: PubMed
    Score: 0.140
  26. Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 2014 Oct; 155(10):4088-93.
    View in: PubMed
    Score: 0.137
  27. A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid. 2014 Jun; 24(6):945-50.
    View in: PubMed
    Score: 0.134
  28. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014 Mar; 24(3):407-9.
    View in: PubMed
    Score: 0.133
  29. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J. 2014 Mar; 3(1):7-9.
    View in: PubMed
    Score: 0.133
  30. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab. 2014 Mar; 99(3):768-70.
    View in: PubMed
    Score: 0.133
  31. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Curr Opin Endocrinol Diabetes Obes. 2013 Oct; 20(5):434-40.
    View in: PubMed
    Score: 0.130
  32. Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels. Endocrinology. 2013 Dec; 154(12):4885-95.
    View in: PubMed
    Score: 0.129
  33. Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 2013 Jul; 154(7):2533-41.
    View in: PubMed
    Score: 0.126
  34. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23.
    View in: PubMed
    Score: 0.121
  35. Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7.
    View in: PubMed
    Score: 0.116
  36. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation. J Clin Endocrinol Metab. 2011 Jun; 96(6):E1001-6.
    View in: PubMed
    Score: 0.109
  37. Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 2011 Mar; 152(3):1180-91.
    View in: PubMed
    Score: 0.108
  38. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010 Sep; 120(9):3377-88.
    View in: PubMed
    Score: 0.104
  39. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102.
    View in: PubMed
    Score: 0.103
  40. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009 Sep; 150(9):4450-8.
    View in: PubMed
    Score: 0.096
  41. Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81.
    View in: PubMed
    Score: 0.094
  42. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202.
    View in: PubMed
    Score: 0.087
  43. Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathway. Nucl Recept Signal. 2006; 4:e020.
    View in: PubMed
    Score: 0.078
  44. Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7.
    View in: PubMed
    Score: 0.078
  45. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Mol Endocrinol. 2005 Dec; 19(12):2955-63.
    View in: PubMed
    Score: 0.074
  46. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005 Jun; 252(6):663-6.
    View in: PubMed
    Score: 0.072
  47. A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab. 2005 Mar; 90(3):1760-7.
    View in: PubMed
    Score: 0.070
  48. Thyroid hormone responsive genes in cultured human fibroblasts. J Clin Endocrinol Metab. 2005 Feb; 90(2):936-43.
    View in: PubMed
    Score: 0.070
  49. A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid. 2003 Apr; 13(4):409-12.
    View in: PubMed
    Score: 0.063
  50. Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid. 2023 02; 33(2):261-266.
    View in: PubMed
    Score: 0.062
  51. AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency. Thyroid. 2022 07; 32(7):849-859.
    View in: PubMed
    Score: 0.059
  52. 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.
    View in: PubMed
    Score: 0.058
  53. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73.
    View in: PubMed
    Score: 0.058
  54. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab. 2002 Jan; 87(1):336-9.
    View in: PubMed
    Score: 0.057
  55. Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591.
    View in: PubMed
    Score: 0.056
  56. Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005.
    View in: PubMed
    Score: 0.053
  57. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5).
    View in: PubMed
    Score: 0.051
  58. Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism. Thyroid. 2020 05; 30(5):780-782.
    View in: PubMed
    Score: 0.050
  59. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSH?. Horm Res Paediatr. 2019; 92(6):390-394.
    View in: PubMed
    Score: 0.050
  60. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
    View in: PubMed
    Score: 0.047
  61. A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69.
    View in: PubMed
    Score: 0.045
  62. An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066.
    View in: PubMed
    Score: 0.043
  63. Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease. Thyroid. 2013 Dec; 23(12):1638-43.
    View in: PubMed
    Score: 0.032
  64. Generation of functional thyroid from embryonic stem cells. Nature. 2012 Nov 01; 491(7422):66-71.
    View in: PubMed
    Score: 0.030
  65. Role of type 2 deiodinase in response to acute lung injury (ALI) in mice. Proc Natl Acad Sci U S A. 2011 Dec 06; 108(49):E1321-9.
    View in: PubMed
    Score: 0.028
  66. Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ? and phosphatidylinositol 3-kinase activation. Exp Clin Endocrinol Diabetes. 2011 Feb; 119(2):81-5.
    View in: PubMed
    Score: 0.026
  67. Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice. Endocrinology. 2010 May; 151(5):2381-7.
    View in: PubMed
    Score: 0.025
  68. Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. Endocrinology. 2009 May; 150(5):2491-6.
    View in: PubMed
    Score: 0.023
  69. Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats. Endocrinology. 2007 Oct; 148(10):4727-33.
    View in: PubMed
    Score: 0.021
  70. A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta. Ir J Med Sci. 2005 Oct-Dec; 174(4):60-4.
    View in: PubMed
    Score: 0.019
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.