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Defective Thyroglobulin Transport

MedGen UID:
1372805
Concept ID:
C4329704
Disease or Syndrome

Definition

Impairment in the intracellular transport of thyroglobulin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDefective Thyroglobulin Transport

Recent clinical studies

Etiology

Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Zhao S, Zhou H, Peng X, Tan S, Liu Z, Chen T, Xu Q, Wei S
J Neuroophthalmol 2017 Mar;37(1):24-29. doi: 10.1097/WNO.0000000000000454. PMID: 27749786
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Rubio IG, Medeiros-Neto G
Curr Opin Endocrinol Diabetes Obes 2009 Oct;16(5):373-8. doi: 10.1097/MED.0b013e32832ff218. PMID: 19633549
Park SM, Chatterjee VK
J Med Genet 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. PMID: 15863666Free PMC Article

Diagnosis

Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
Targovnik HM, Citterio CE, Rivolta CM
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):195-212. Epub 2017 Apr 4 doi: 10.1016/j.beem.2017.03.006. PMID: 28648508
Rubio IG, Medeiros-Neto G
Curr Opin Endocrinol Diabetes Obes 2009 Oct;16(5):373-8. doi: 10.1097/MED.0b013e32832ff218. PMID: 19633549
Park SM, Chatterjee VK
J Med Genet 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. PMID: 15863666Free PMC Article
Glaser B
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:199-204; discussion 204. PMID: 16444159

Therapy

Koukkou EG, Roupas ND, Markou KB
Minerva Med 2017 Apr;108(2):136-146. Epub 2017 Jan 12 doi: 10.23736/S0026-4806.17.04923-0. PMID: 28079354
Li Y, Salfelder A, Schwab KO, Grünert SC, Velten T, Lütjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B, Köttgen A, Lausch E
Eur J Hum Genet 2016 Aug;24(9):1274-9. Epub 2016 Jan 27 doi: 10.1038/ejhg.2015.285. PMID: 26813946Free PMC Article
Braverman LE
Thyroid 2007 Sep;17(9):819-22. doi: 10.1089/thy.2007.0105. PMID: 17705696
Cappiello E, Boldorini R, Tosoni A, Piraneo S, Bernasconi R, Raggi U
J Endocrinol Invest 1995 Dec;18(11):862-8. doi: 10.1007/BF03349834. PMID: 8778159
Yoshimura R, Kodama S, Nakamura H
Kobe J Med Sci 1995 Jun;41(3):71-82. PMID: 8577088

Prognosis

Gomes Pio M, Adrover E, Miras MB, Sobrero G, Molina MF, Scheps KG, Rivolta CM, Targovnik HM
Mol Cell Endocrinol 2023 Jul 15;572:111948. Epub 2023 May 9 doi: 10.1016/j.mce.2023.111948. PMID: 37164149
Bernal Barquero CE, Geysels RC, Jacques V, Carro GH, Martín M, Peyret V, Abregú MC, Papendieck P, Masini-Repiso AM, Savagner F, Chiesa AE, Citterio CE, Nicola JP
Int J Mol Sci 2022 Aug 17;23(16) doi: 10.3390/ijms23169251. PMID: 36012511Free PMC Article
Zhao S, Zhou H, Peng X, Tan S, Liu Z, Chen T, Xu Q, Wei S
J Neuroophthalmol 2017 Mar;37(1):24-29. doi: 10.1097/WNO.0000000000000454. PMID: 27749786
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Dias VM, Campos AP, Chagas AJ, Silva RM
J Pediatr Endocrinol Metab 2010 Aug;23(8):815-26. doi: 10.1515/jpem.2010.131. PMID: 21073124

Clinical prediction guides

Xu Q, Zhu Y, Wang Q, Han J, Mao F, Zeng S, Chen S, Zhao C, Gu M, Li Z, Luo X, Fu X, Huang Y
Front Biosci (Landmark Ed) 2021 Sep 30;26(9):496-503. doi: 10.52586/4962. PMID: 34590462
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Bizhanova A, Kopp P
Endocrinology 2009 Mar;150(3):1084-90. Epub 2009 Feb 5 doi: 10.1210/en.2008-1437. PMID: 19196800Free PMC Article
Braverman LE
Thyroid 2007 Sep;17(9):819-22. doi: 10.1089/thy.2007.0105. PMID: 17705696
Kanou Y, Hishinuma A, Tsunekawa K, Seki K, Mizuno Y, Fujisawa H, Imai T, Miura Y, Nagasaka T, Yamada C, Ieiri T, Murakami M, Murata Y
J Clin Endocrinol Metab 2007 Apr;92(4):1451-7. Epub 2007 Jan 23 doi: 10.1210/jc.2006-1242. PMID: 17244789

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