Loading...
The University of Chicago Header Logo
Keywords
Last Name
Institution

Alexandra M. Dumitrescu

TitleAssistant Professor
InstitutionUniversity of Chicago
DepartmentMedicine-Endocrinology
AddressChicago IL 60637
vCardDownload vCard

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Fujisawa H, Gagné J, Dumitrescu AM, Refetoff S. Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 Oct; 29(10):1518-1520. PMID: 31432759.
      View in: PubMed
    2. Bianco AC, Dumitrescu A, Gereben B, Ribeiro MO, Fonseca TL, Fernandes GW, Bocco BMLC. Paradigms of Dynamic Control of Thyroid Hormone Signaling. Endocr Rev. 2019 08 01; 40(4):1000-1047. PMID: 31033998.
      View in: PubMed
    3. Anselmo J, Scherberg NH, Dumitrescu AM, Refetoff S. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 Jun; 29(6):778-782. PMID: 30938226.
      View in: PubMed
    4. Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304. PMID: 30375286.
      View in: PubMed
    5. Çatli G, Fujisawa H, Kirbiyik Ö, Mimoto MS, Gençpinar P, Özdemir TR, Dündar BN, Dumitrescu AM. A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy. Thyroid. 2018 09; 28(9):1221-1223. PMID: 29882503.
      View in: PubMed
    6. Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814. PMID: 29676214.
      View in: PubMed
    7. Watanabe Y, Sharwood E, Goodwin B, Creech MK, Hassan HY, Netea MG, Jaeger M, Dumitrescu A, Refetoff S, Huynh T, Weiss RE. 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. PMID: 29720101.
      View in: PubMed
    8. Fu J, Fujisawa H, Follman B, Liao XH, Dumitrescu AM. Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency. Endocrinology. 2017 12 01; 158(12):4317-4330. PMID: 29029094.
      View in: PubMed
    9. Pappa T, Anselmo J, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S. Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782. PMID: 28938413.
      View in: PubMed
    10. Srichomkwun P, Anselmo J, Liao XH, Hönes GS, Moeller LC, Alonso-Sampedro M, Weiss RE, Dumitrescu AM, Refetoff S. 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. PMID: 28586435.
      View in: PubMed
    11. Leitch VD, Di Cosmo C, Liao XH, O'Boy S, Galliford TM, Evans H, Croucher PI, Boyde A, Dumitrescu A, Weiss RE, Refetoff S, Williams GR, Bassett JHD. An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066. PMID: 28637283.
      View in: PubMed
    12. Iwayama H, Liao XH, Braun L, Bárez-López S, Kaspar B, Weiss RE, Dumitrescu AM, Guadaño-Ferraz A, Refetoff S. 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. PMID: 27432638.
      View in: PubMed
    13. Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S. The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency. Endocrinology. 2015 Nov; 156(11):3889-94. PMID: 26322373.
      View in: PubMed
    14. Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S. A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76. PMID: 25950606.
      View in: PubMed
    15. Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S. A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81. PMID: 25361180.
      View in: PubMed
    16. Larsen CC, Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM. 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. PMID: 25873976.
      View in: PubMed
    17. Ferrara AM, Liao XH, Gil-Ibáñez P, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S. Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 2014 Oct; 155(10):4088-93. PMID: 25051435.
      View in: PubMed
    18. Núñez B, Martínez de Mena R, Obregon MJ, Font-Llitjós M, Nunes V, Palacín M, Dumitrescu AM, Morte B, Bernal J. Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation. PLoS One. 2014; 9(5):e96915. PMID: 24819605.
      View in: PubMed
    19. Greenberg SM, Ferrara AM, Nicholas ES, Dumitrescu AM, Cody V, Weiss RE, Refetoff S. 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. PMID: 24494774.
      View in: PubMed
    20. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014 Mar; 24(3):407-9. PMID: 24588711.
      View in: PubMed
    21. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J. 2014 Mar; 3(1):7-9. PMID: 24847459.
      View in: PubMed
    22. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. 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. PMID: 24823702.
      View in: PubMed
    23. Stana D, Iancu R, Leasu C, Popescu V, Dumitrescu A, Gradinaru S. The role of Spectral Domain Optical Coherence Tomography in monitoring uncontrolled hypertensive type 2 diabetic patients. J Med Life. 2014; 7 Spec No. 4:65-7. PMID: 27057251.
      View in: PubMed
    24. Fu J, Refetoff S, Dumitrescu AM. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Curr Opin Endocrinol Diabetes Obes. 2013 Oct; 20(5):434-40. PMID: 23974772.
      View in: PubMed
    25. Larsen CC, Dumitrescu A, Guerra-Argüero LM, Gállego-Suárez C, Vazquez-Mellado A, Vinogradova M, Fletterick R, Refetoff S, Weiss RE. 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. PMID: 23806029.
      View in: PubMed
    26. Di Cosmo C, Liao XH, Ye H, Ferrara AM, Weiss RE, Refetoff S, Dumitrescu AM. 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. PMID: 24029243.
      View in: PubMed
    27. Fu J, Dumitrescu AM. Inherited defects in thyroid hormone cell-membrane transport and metabolism. Best Pract Res Clin Endocrinol Metab. 2014 Mar; 28(2):189-201. PMID: 24629861.
      View in: PubMed
    28. Ferrara AM, Liao XH, Gil-Ibáñez P, Marcinkowski T, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S. Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 2013 Jul; 154(7):2533-41. PMID: 23696569.
      View in: PubMed
    29. Antonica F, Kasprzyk DF, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S. Generation of functional thyroid from embryonic stem cells. Nature. 2012 Nov 01; 491(7422):66-71. PMID: 23051751.
      View in: PubMed
    30. Verge CF, Konrad D, Cohen M, Di Cosmo C, Dumitrescu AM, Marcinkowski T, Hameed S, Hamilton J, Weiss RE, Refetoff S. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23. PMID: 22993035.
      View in: PubMed
    31. Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003. PMID: 22986150.
      View in: PubMed
    32. Sriphrapradang C, German A, Dumitrescu AM, Refetoff S. Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7. PMID: 22313426.
      View in: PubMed
    33. Barca-Mayo O, Liao XH, DiCosmo C, Dumitrescu A, Moreno-Vinasco L, Wade MS, Sammani S, Mirzapoiazova T, Garcia JG, Refetoff S, Weiss RE. 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. PMID: 22065740.
      View in: PubMed
    34. Dumitrescu AM, Refetoff S. Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8. PMID: 21511232.
      View in: PubMed
    35. Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S. 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. PMID: 21490078.
      View in: PubMed
    36. Liao XH, Di Cosmo C, Dumitrescu AM, Hernandez A, Van Sande J, St Germain DL, Weiss RE, Galton VA, Refetoff S. Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 2011 Mar; 152(3):1180-91. PMID: 21285310.
      View in: PubMed
    37. Moeller LC, Haselhorst NE, Dumitrescu AM, Cao X, Seo H, Refetoff S, Mann K, Janssen OE. Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation. Exp Clin Endocrinol Diabetes. 2011 Feb; 119(2):81-5. PMID: 20827662.
      View in: PubMed
    38. Di Cosmo C, Liao XH, Dumitrescu AM, Philp NJ, Weiss RE, Refetoff S. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010 Sep; 120(9):3377-88. PMID: 20679730.
      View in: PubMed
    39. Weiss RE, Dumitrescu A, Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102. PMID: 20610605.
      View in: PubMed
    40. Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S. The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20. PMID: 19769464.
      View in: PubMed
    41. Morte B, Ceballos A, Diez D, Grijota-Martínez C, Dumitrescu AM, Di Cosmo C, Galton VA, Refetoff S, Bernal J. 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. PMID: 20211971.
      View in: PubMed
    42. Di Cosmo C, Liao XH, Dumitrescu AM, Weiss RE, Refetoff S. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009 Sep; 150(9):4450-8. PMID: 19497976.
      View in: PubMed
    43. Schomburg L, Dumitrescu AM, Liao XH, Bin-Abbas B, Hoeflich J, Köhrle J, Refetoff S. Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81. PMID: 19265499.
      View in: PubMed
    44. Ceballos A, Belinchon MM, Sanchez-Mendoza E, Grijota-Martinez C, Dumitrescu AM, Refetoff S, Morte B, Bernal J. 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. PMID: 19147674.
      View in: PubMed
    45. Papadimitriou A, Dumitrescu AM, Papavasiliou A, Fretzayas A, Nicolaidou P, Refetoff S. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202. PMID: 18166539.
      View in: PubMed
    46. Moeller LC, Alonso M, Liao X, Broach V, Dumitrescu A, Van Sande J, Montanelli L, Skjei S, Goodwin C, Grasberger H, Refetoff S, Weiss RE. Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats. Endocrinology. 2007 Oct; 148(10):4727-33. PMID: 17640981.
      View in: PubMed
    47. Refetoff S, Dumitrescu AM. 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. PMID: 17574009.
      View in: PubMed
    48. Dumitrescu AM, Refetoff S. Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139. PMID: 17684394.
      View in: PubMed
    49. Moeller LC, Cao X, Dumitrescu AM, Seo H, Refetoff S. 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. PMID: 16862226.
      View in: PubMed
    50. Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S. Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7. PMID: 16804041.
      View in: PubMed
    51. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43. PMID: 16709608.
      View in: PubMed
    52. Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52. PMID: 16228000.
      View in: PubMed
    53. McDermott JH, Agha A, McMahon M, Gasparro D, Moeller L, Dumitrescu AM, Refetoff S, Sreenan S. 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. PMID: 16445164.
      View in: PubMed
    54. Moeller LC, Dumitrescu AM, Refetoff S. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Mol Endocrinol. 2005 Dec; 19(12):2955-63. PMID: 16051672.
      View in: PubMed
    55. Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005 Jun; 252(6):663-6. PMID: 15834651.
      View in: PubMed
    56. Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. 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. PMID: 15598685.
      View in: PubMed
    57. Moeller LC, Dumitrescu AM, Walker RL, Meltzer PS, Refetoff S. Thyroid hormone responsive genes in cultured human fibroblasts. J Clin Endocrinol Metab. 2005 Feb; 90(2):936-43. PMID: 15507505.
      View in: PubMed
    58. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. 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. PMID: 14661163.
      View in: PubMed
    59. Ishay A, Dumitrescu A, Luboshitzky R, Rakover Y, Refetoff S. 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. PMID: 12804112.
      View in: PubMed
    60. Reutrakul S, Dumitrescu A, Macchia PE, Moll GW, Vierhapper H, Refetoff S. 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. PMID: 11889160.
      View in: PubMed
    61. Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73. PMID: 11854318.
      View in: PubMed
    62. Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, Refetoff S. 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. PMID: 11788671.
      View in: PubMed
    63. Chang T, Mazotta J, Dumstrei K, Dumitrescu A, Hartenstein V. Dpp and Hh signaling in the Drosophila embryonic eye field. Development. 2001 Dec; 128(23):4691-704. PMID: 11731450.
      View in: PubMed
    64. Mogos T, Popescu C, Dumitrescu A, Tanase I, Mincu I. The relationship between aminoaciduria and plasma hemoglobin levels. Rom J Intern Med. 1993 Jul-Sep; 31(3):223-8. PMID: 8130761.
      View in: PubMed
    65. Motoiu I, Dumitrescu A, Ursea C, Gociu M, Berceanu S. [Blast study in acute leukemia using monoclonal antibodies]. Rev Med Interna Neurol Psihiatr Neurochir Dermatovenerol Med Interna. 1988 Jan-Feb; 40(1):33-40. PMID: 2899345.
      View in: PubMed
    66. Negut E, Litarczek G, Ghidaly M, Alexianu D, Dumitrescu A, Herlod A, Szégli G. [Clinical data on the use of intravenously administered gamma globulin produced by the Castacuzino Institute in different diseases of infectious etiology]. Rev Ig Bacteriol Virusol Parazitol Epidemiol Pneumoftiziol Bacteriol Virusol Parazitol Epidemiol. 1984 Oct-Dec; 29(4):317-24. PMID: 6084287.
      View in: PubMed
    67. Pencea V, Timosca S, Cotutiu C, Dumitrescu A, Haralamb E. [The autoimmune component in periodontal diseases in patients with thyroid dysfunction]. Rev Med Chir Soc Med Nat Iasi. 1978 Jan-Mar; 82(1):105-9. PMID: 674936.
      View in: PubMed
    68. Alessandrescu D, Dumitrescu A, Teodoru GC, Michelis M. [Influencing of the maternal and fetal acid-base equilibrium through labor under analgesia]. Arch Gynakol. 1971 Jun 04; 211(1):287-9. PMID: 5108888.
      View in: PubMed
    Dumitrescu's Networks
    Click the "See All" links for more information and interactive visualizations!
    Concepts Expand Description
    See all (310) concept(s)
    _
    Co-Authors Expand Description
    See all (6) people
    _
    Similar People Expand Description
    See all (60) people
    _
    Same Department Expand Description
    Search Department
    Physical Neighbors Expand Description
    _