Homo sapiens (Human) Thyroglobulin TG Tg
Thyroglobulin is the glycoprotein precursor to the thyroid hormones T3 (triiodothyronine) and T4 (tetraiodothyronine). It has a molecular mass of 660 kD, with 2 identical subunits, yet its complete hydrolysis yields only 2 to 4 molecules of T3 and T4. The protein contains a 19-amino acid signal peptide followed by 2,748 residues. Only the C-terminal part is homologous to alph\/beta hydrolase. Van Ommen (1987) suggested that defects in the TG gene can cause either dominant or recessive disorders depending on the nature of the defect. When the gene is absent or at least when no thyroglobulin is synthesized, the disorder is likely to be recessive, whereas the presence of an abnormal subunit leads to a dominantly inherited disorder. The explanation for this is that in a dimeric protein such as thyroglobulin, 75\% of the dimers in heterozygotes will contain 1 or more abnormal subunits. This should profoundly disturb thyroglobulin metabolism, since this protein fulfills a dual storage\/catalytic role as a dimer, is present in bulk quantities (100 mg Tg\/g thyroid mass), and needs to be exocytosed, iodinated, endocytosed, and degraded. EnsemblClone AF230666, EnsemblContig AC079020.2.132816.152274, AF235100_2 gene chromosome 8 clone PAC 98A24 map 8q24.3. there is a small gene with only a little bit of thyroglobuline just 3' of the real gene AC069434.7.189089.192039 ENST00000254617 ENSG00000132287. Three out of five iodination sites are in the cholinesterase homologous domain 2573 (In T4), 2587 (In T4),2766 (In T3) || only c-term Pfam A COesterase 2186 2718 here only homologous region starting with first G in cholinesterase 2206
Family : Thyroglobulin
Block : C
Position in NCBI Life Tree : Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N EHGRLLGRSQA IQVGTSWKQV DQFLGVPYAA PPLAERRFQA PEPLNWTGSW DASKPRASCW QPGTRTSTSP GVSEDCLYLN VFIPQNVAPN ASVLVFFHNT MDREESEGWP AIDGSFLAAV GNLIVVTASY RVGVFGFLSS GSGEVSGNWG LLDQVAALTW VQTHIRGFGG DPRRVSLAAD RGGADVASIH LLTARATNSQ LFRRAVLMGG SALSPAAVIS HERAQQQAIA LAKEVSCPMS SSQEVVSCLR QKPANVLNDA QTKLLAVSGP FHYWGPVIDG HFLREPPARA LKRSLWVEVD LLIGSSQDDG LINRAKAVKQ FEESRGRTSS KTAFYQALQN SLGGEDSDAR VEAAATWYYS LEHSTDDYAS FSRALENATR DYFIICPIID MASAWAKRAR GNVFMYHAPE NYGHGSLELL ADVQFALGLP FYPAYEGQFS LEEKSLSLKI MQYFSHFIRS GNPNYPYEFS RKVPTFATPW PDFVPRAGGE NYKEFSELLP NRQGLKKADC SFWSKYISSL KTSADGAKGG QSAESEEEEL TAGSGLREDL LSLQEPGSKT YSK
Title : Structural Features of Thyroglobulin Linked to Protein Trafficking - Citterio_2023_Protein.Sci__e4784 |
Author(s) : Citterio CE , Kim K , Rajesh B , Pena K , Clarke OB , Arvan P |
Ref : Protein Science , :e4784 , 2023 |
Abstract : |
PubMedSearch : Citterio_2023_Protein.Sci__e4784 |
PubMedID: 37717261 |
Gene_locus related to this paper: bovin-thyro , human-TG |
Title : Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio - Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
Author(s) : Matsuyama M , Sawada H , Inoue S , Hishinuma A , Sekiya R , Sato Y , Moritake H |
Ref : Clin Pediatr Endocrinol , 31 :185 , 2022 |
Abstract : |
PubMedSearch : Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
PubMedID: 35928386 |
Gene_locus related to this paper: human-TG |
Title : Cryo-EM structure of native human thyroglobulin - Adaixo_2022_Nat.Commun_13_61 |
Author(s) : Adaixo R , Steiner EM , Righetto RD , Schmidt A , Stahlberg H , Taylor NMI |
Ref : Nat Commun , 13 :61 , 2022 |
Abstract : |
PubMedSearch : Adaixo_2022_Nat.Commun_13_61 |
PubMedID: 35013249 |
Gene_locus related to this paper: human-TG |
Title : Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect - Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
Author(s) : Bernal Barquero CE , Geysels RC , Jacques V , Carro GH , Martin M , Peyret V , Abregu MC , Papendieck P , Masini-Repiso AM , Savagner F , Chiesa AE , Citterio CE , Nicola JP |
Ref : Int J Mol Sci , 23 :9251 , 2022 |
Abstract : |
PubMedSearch : Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
PubMedID: 36012511 |
Gene_locus related to this paper: human-TG |
Title : Cryo-EM structure of native human thyroglobulin - Adaixo_2021_Biorxiv__ |
Author(s) : Adaixo R , Steiner EM , Righetto RD , Schmidt A , Stahlberg H , Taylor NMI |
Ref : Biorxiv , : , 2021 |
Abstract : |
PubMedSearch : Adaixo_2021_Biorxiv__ |
PubMedID: |
Gene_locus related to this paper: human-TG |
Title : Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death - Zhang_2021_JCI.Insight_6_e148496 |
Author(s) : Zhang X , Kellogg AP , Citterio CE , Zhang H , Larkin D , Morishita Y , Targovnik HM , Balbi VA , Arvan P |
Ref : JCI Insight , 6 : , 2021 |
Abstract : |
PubMedSearch : Zhang_2021_JCI.Insight_6_e148496 |
PubMedID: 33914707 |
Gene_locus related to this paper: human-TG |
Title : The structure of human thyroglobulin - Coscia_2020_Nature__ |
Author(s) : Coscia F , Taler-Vercic A , Chang VT , Sinn L , O'Reilly FJ , Izore T , Renko M , Berger I , Rappsilber J , Turk D , Lowe J |
Ref : Nature , : , 2020 |
Abstract : |
PubMedSearch : Coscia_2020_Nature__ |
PubMedID: 32025030 |
Gene_locus related to this paper: human-TG |
Title : Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement - Mizokami_2019_Intern.Med_58_2669 |
Author(s) : Mizokami T , Fukata S , Kogai T , Hishinuma A , Hamada K , Maruta T , Higashi K , Tajiri J |
Ref : Intern Med , 58 :2669 , 2019 |
Abstract : |
PubMedSearch : Mizokami_2019_Intern.Med_58_2669 |
PubMedID: 31178475 |
Gene_locus related to this paper: human-TG |
Title : Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene - Lo_2018_J.Autoimmun_86_116 |
Author(s) : Lo MS , Towne M , VanNoy GE , Brownstein CA , Lane AA , Chatila TA , Agrawal PB |
Ref : J Autoimmun , 86 :116 , 2018 |
Abstract : |
PubMedSearch : Lo_2018_J.Autoimmun_86_116 |
PubMedID: 28942902 |
Gene_locus related to this paper: human-TG |
Title : A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report - Watanabe_2018_BMC.Med.Genet_19_69 |
Author(s) : Watanabe Y , Sharwood E , Goodwin B , Creech MK , Hassan HY , Netea MG , Jaeger M , Dumitrescu A , Refetoff S , Huynh T , Weiss RE |
Ref : BMC Med Genet , 19 :69 , 2018 |
Abstract : |
PubMedSearch : Watanabe_2018_BMC.Med.Genet_19_69 |
PubMedID: 29720101 |
Gene_locus related to this paper: human-TG |
Title : Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism - Siffo_2018_Mol.Cell.Endocrinol_473_1 |
Author(s) : Siffo S , Adrover E , Citterio CE , Miras MB , Balbi VA , Chiesa A , Weill J , Sobrero G , Gonzalez VG , Papendieck P , Martinez EB , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
Ref : Mol Cell Endocrinol , 473 :1 , 2018 |
Abstract : |
PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
PubMedID: 29275168 |
Gene_locus related to this paper: human-TG |
Title : Single nucleotide polymorphism 1623 A\/G (rs180195) in the promoter of the Thyroglobulin gene is associated with autoimmune thyroid disease but not with thyroid ophthalmopathy - Lahooti_2017_Clin.Ophthalmol_11_1337 |
Author(s) : Lahooti H , Edirimanne S , Walsh JP , Delbridge L , Hibbert EJ , Wall JR |
Ref : Clin Ophthalmol , 11 :1337 , 2017 |
Abstract : |
PubMedSearch : Lahooti_2017_Clin.Ophthalmol_11_1337 |
PubMedID: 28794611 |
Gene_locus related to this paper: human-TG |
Title : Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation - Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
Author(s) : Vasudevan P , Powell C , Nicholas AK , Scudamore I , Greening J , Park SM , Schoenmakers N |
Ref : Endocrinol Diabetes Metab Case Rep , 2017 : , 2017 |
Abstract : |
PubMedSearch : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
PubMedID: 28620499 |
Gene_locus related to this paper: human-TG |
Title : Against all odds: blended phenotypes of three single-gene defects - Li_2016_Eur.J.Hum.Genet_24_1274 |
Author(s) : Li Y , Salfelder A , Schwab KO , Grunert SC , Velten T , Lutjohann D , Villavicencio-Lorini P , Matysiak-Scholze U , Zabel B , Kottgen A , Lausch E |
Ref : Eur J Hum Genet , 24 :1274 , 2016 |
Abstract : |
PubMedSearch : Li_2016_Eur.J.Hum.Genet_24_1274 |
PubMedID: 26813946 |
Gene_locus related to this paper: human-TG |
Title : Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism - Hu_2016_Mol.Cell.Endocrinol_423_60 |
Author(s) : Hu X , Chen R , Fu C , Fan X , Wang J , Qian J , Yi S , Li C , Luo J , Su J , Zhang S , Xie B , Zheng H , Lai Y , Chen Y , Li H , Gu X , Chen S , Shen Y |
Ref : Mol Cell Endocrinol , 423 :60 , 2016 |
Abstract : |
PubMedSearch : Hu_2016_Mol.Cell.Endocrinol_423_60 |
PubMedID: 26777470 |
Gene_locus related to this paper: human-TG |
Title : Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability - Mittal_2016_J.Hum.Genet_61_867 |
Author(s) : Mittal K , Rafiq MA , Rafiullah R , Harripaul R , Ali H , Ayaz M , Aslam M , Naeem F , Amin-Ud-Din M , Waqas A , So J , Rappold GA , Vincent JB , Ayub M |
Ref : J Hum Genet , 61 :867 , 2016 |
Abstract : |
PubMedSearch : Mittal_2016_J.Hum.Genet_61_867 |
PubMedID: 27305979 |
Gene_locus related to this paper: human-TG |
Title : Novel compound heterozygous Thyroglobulin mutations c.745+1G>A\/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6 - Citterio_2015_Mol.Cell.Endocrinol_404_102 |
Author(s) : Citterio CE , Morales CM , Bouhours-Nouet N , Machiavelli GA , Bueno E , Gatelais F , Coutant R , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
Ref : Mol Cell Endocrinol , 404 :102 , 2015 |
Abstract : |
PubMedSearch : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
PubMedID: 25633667 |
Gene_locus related to this paper: human-TG |
Title : Thyroglobulin from Molecular and Cellular Biology to Clinical Endocrinology - Di Jeso_2015_Endocr.Rev__er20151090 |
Author(s) : Di Jeso B , Arvan P |
Ref : Endocr Rev , :er20151090 , 2015 |
Abstract : |
PubMedSearch : Di Jeso_2015_Endocr.Rev__er20151090 |
PubMedID: 26595189 |
Gene_locus related to this paper: human-TG |
Title : Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism - |
Author(s) : Targovnik HM |
Ref : Endocrine , 45 :163 , 2014 |
PubMedID: 24129411 |
Gene_locus related to this paper: human-TG |
Title : Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism - Cangul_2014_Endocrine_45_206 |
Author(s) : Cangul H , Boelaert K , Dogan M , Saglam Y , Kendall M , Barrett TG , Maher ER |
Ref : Endocrine , 45 :206 , 2014 |
Abstract : |
PubMedSearch : Cangul_2014_Endocrine_45_206 |
PubMedID: 23949896 |
Gene_locus related to this paper: human-TG |
Title : Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_381_220 |
Author(s) : Citterio CE , Rossetti LC , Souchon PF , Morales C , Thouvard-Viprey M , Salmon-Musial AS , Mauran PL , Doco-Fenzy M , Gonzalez-Sarmiento R , Rivolta CM , De Brasi CD , Targovnik HM |
Ref : Mol Cell Endocrinol , 381 :220 , 2013 |
Abstract : |
PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_381_220 |
PubMedID: 23933148 |
Gene_locus related to this paper: human-TG |
Title : A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies - Hermanns_2013_J.Pediatr.Endocrinol.Metab_26_119 |
Author(s) : Hermanns P , Refetoff S , Sriphrapradang C , Pohlenz J , Okamato J , Slyper L , Slyper AH |
Ref : J Pediatr Endocrinol Metab , 26 :119 , 2013 |
Abstract : |
PubMedSearch : Hermanns_2013_J.Pediatr.Endocrinol.Metab_26_119 |
PubMedID: 23457313 |
Gene_locus related to this paper: human-TG |
Title : New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_365_277 |
Author(s) : Citterio CE , Machiavelli GA , Miras MB , Gruneiro-Papendieck L , Lachlan K , Sobrero G , Chiesa A , Walker J , Munoz L , Testa G , Belforte FS , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
Ref : Mol Cell Endocrinol , 365 :277 , 2013 |
Abstract : |
PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
PubMedID: 23164529 |
Gene_locus related to this paper: human-TG |
Title : Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene - Agretti_2013_Eur.J.Pediatr_172_959 |
Author(s) : Agretti P , De Marco G , Di Cosmo C , Ferrarini E , Montanelli L , Bagattini B , Vitti P , Tonacchera M |
Ref : Eur J Pediatr , 172 :959 , 2013 |
Abstract : |
PubMedSearch : Agretti_2013_Eur.J.Pediatr_172_959 |
PubMedID: 23455760 |
Gene_locus related to this paper: human-TG |
Title : Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19 - Targovnik_2012_Mol.Cell.Endocrinol_348_313 |
Author(s) : Targovnik HM , Edouard T , Varela V , Tauber M , Citterio CE , Gonzalez-Sarmiento R , Rivolta CM |
Ref : Mol Cell Endocrinol , 348 :313 , 2012 |
Abstract : |
PubMedSearch : Targovnik_2012_Mol.Cell.Endocrinol_348_313 |
PubMedID: 21958696 |
Gene_locus related to this paper: human-TG |
Title : Congenital hypothyroidism mutations affect common folding and trafficking in the alpha\/beta-hydrolase fold proteins - De Jaco_2012_Febs.J_279_4293 |
Author(s) : De Jaco A , Dubi N , Camp S , Taylor P |
Ref : Febs J , 279 :4293 , 2012 |
Abstract : |
PubMedSearch : De Jaco_2012_Febs.J_279_4293 |
PubMedID: 23035660 |
Gene_locus related to this paper: human-TG |
Title : A new compound heterozygous for c.886C>T\/c.2206C>T [p.R277X\/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism - |
Author(s) : Citterio CE , Coutant R , Rouleau S , Miralles Garcia JM , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
Ref : Clinical Endocrinology (Oxf) , 74 :533 , 2011 |
PubMedID: 21128992 |
Gene_locus related to this paper: human-TG |
Title : Thyroglobulin gene mutations in congenital hypothyroidism - Targovnik_2011_Horm.Res.Paediatr_75_311 |
Author(s) : Targovnik HM , Citterio CE , Rivolta CM |
Ref : Horm Res Paediatr , 75 :311 , 2011 |
Abstract : |
PubMedSearch : Targovnik_2011_Horm.Res.Paediatr_75_311 |
PubMedID: 21372558 |
Gene_locus related to this paper: human-TG |
Title : Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis - Caputo_2010_Endocrine_37_389 |
Author(s) : Caputo M , Rivolta CM , Mories T , Corrales JJ , Galindo P , Gonzalez-Sarmiento R , Targovnik HM , Miralles-Garcia JM |
Ref : Endocrine , 37 :389 , 2010 |
Abstract : |
PubMedSearch : Caputo_2010_Endocrine_37_389 |
PubMedID: 20960158 |
Gene_locus related to this paper: human-TG |
Title : New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter - Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522 |
Author(s) : Peteiro-Gonzalez D , Lee J , Rodriguez-Fontan J , Castro-Piedras I , Cameselle-Teijeiro J , Beiras A , Bravo SB , Alvarez CV , Hardy DM , Targovnik HM , Arvan P , Lado-Abeal J |
Ref : J Clinical Endocrinology Metab , 95 :3522 , 2010 |
Abstract : |
PubMedSearch : Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522 |
PubMedID: 20410234 |
Gene_locus related to this paper: human-TG |
Title : Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma - Raef_2010_J.Clin.Endocrinol.Metab_95_1000 |
Author(s) : Raef H , Al-Rijjal R , Al-Shehri S , Zou M , Al-Mana H , Baitei EY , Parhar RS , Al-Mohanna FA , Shi Y |
Ref : J Clinical Endocrinology Metab , 95 :1000 , 2010 |
Abstract : |
PubMedSearch : Raef_2010_J.Clin.Endocrinol.Metab_95_1000 |
PubMedID: 20089614 |
Gene_locus related to this paper: human-TG |
Title : Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations - Targovnik_2010_Mol.Cell.Endocrinol_322_44 |
Author(s) : Targovnik HM , Esperante SA , Rivolta CM |
Ref : Mol Cell Endocrinol , 322 :44 , 2010 |
Abstract : |
PubMedSearch : Targovnik_2010_Mol.Cell.Endocrinol_322_44 |
PubMedID: 20093166 |
Gene_locus related to this paper: human-TG |
Title : Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene - Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
Author(s) : Targovnik HM , Souchon PF , Machiavelli GA , Salmon-Musial AS , Mauran PL , Sulmont V , Doco-Fenzy M , Rivolta CM |
Ref : Clinical Endocrinology (Oxf) , 72 :716 , 2010 |
Abstract : |
PubMedSearch : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
PubMedID: 20447071 |
Gene_locus related to this paper: human-TG |
Title : Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control study - Varela_2010_Endocrine_38_320 |
Author(s) : Varela V , Rizzo L , Domene S , Bruno OD , Tellechea ML , Rivolta CM , Targovnik HM |
Ref : Endocrine , 38 :320 , 2010 |
Abstract : |
PubMedSearch : Varela_2010_Endocrine_38_320 |
PubMedID: 20972722 |
Gene_locus related to this paper: human-TG |
Title : Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7 - Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
Author(s) : Machiavelli GA , Caputo M , Rivolta CM , Olcese MC , Gruneiro-Papendieck L , Chiesa A , Gonzalez-Sarmiento R , Targovnik HM |
Ref : Clinical Endocrinology (Oxf) , 72 :112 , 2010 |
Abstract : |
PubMedSearch : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
PubMedID: 19438905 |
Gene_locus related to this paper: human-TG |
Title : The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation - Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
Author(s) : Pardo V , Vono-Toniolo J , Rubio IG , Knobel M , Possato RF , Targovnik HM , Kopp P , Medeiros-Neto G |
Ref : J Clinical Endocrinology Metab , 94 :2938 , 2009 |
Abstract : |
PubMedSearch : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
PubMedID: 19509106 |
Gene_locus related to this paper: human-TG |
Title : Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis - Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
Author(s) : Niu DM , Hsu JH , Chong KW , Huang CH , Lu YH , Kao CH , Yu HC , Lo MY , Jap TS |
Ref : J Clinical Endocrinology Metab , 94 :5045 , 2009 |
Abstract : |
PubMedSearch : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
PubMedID: 19837936 |
Gene_locus related to this paper: human-TG |
Title : Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter - Kim_2008_Mol.Endocrinol_22_477 |
Author(s) : Kim PS , Lee J , Jongsamak P , Menon S , Li B , Hossain SA , Bae JH , Panijpan B , Arvan P |
Ref : Mol Endocrinol , 22 :477 , 2008 |
Abstract : |
PubMedSearch : Kim_2008_Mol.Endocrinol_22_477 |
PubMedID: 17916655 |
Gene_locus related to this paper: human-TG |
Title : The cholinesterase-like domain of thyroglobulin functions as an intramolecular chaperone - Lee_2008_J.Clin.Invest_118_2950 |
Author(s) : Lee J , Di Jeso B , Arvan P |
Ref : J Clinical Investigation , 118 :2950 , 2008 |
Abstract : |
PubMedSearch : Lee_2008_J.Clin.Invest_118_2950 |
PubMedID: 18596923 |
Gene_locus related to this paper: human-TG |
Title : Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations - Pardo_2008_Thyroid_18_783 |
Author(s) : Pardo V , Rubio IG , Knobel M , Aguiar-Oliveira MH , Santos MM , Gomes SA , Oliveira CR , Targovnik HM , Medeiros-Neto G |
Ref : Thyroid , 18 :783 , 2008 |
Abstract : |
PubMedSearch : Pardo_2008_Thyroid_18_783 |
PubMedID: 18631008 |
Gene_locus related to this paper: human-TG |
Title : Recurrence of the p.R277X\/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms - Caputo_2007_J.Endocrinol_195_167 |
Author(s) : Caputo M , Rivolta CM , Gutnisky VJ , Gruneiro-Papendieck L , Chiesa A , Medeiros-Neto G , Gonzalez-Sarmiento R , Targovnik HM |
Ref : J Endocrinol , 195 :167 , 2007 |
Abstract : |
PubMedSearch : Caputo_2007_J.Endocrinol_195_167 |
PubMedID: 17911408 |
Gene_locus related to this paper: human-TG |
Title : Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene - Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
Author(s) : Caputo M , Rivolta CM , Esperante SA , Gruneiro-Papendieck L , Chiesa A , Pellizas CG , Gonzalez-Sarmiento R , Targovnik HM |
Ref : Clinical Endocrinology (Oxf) , 67 :351 , 2007 |
Abstract : |
PubMedSearch : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
PubMedID: 17532758 |
Gene_locus related to this paper: human-TG |
Title : Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene - Alzahrani_2006_J.Clin.Endocrinol.Metab_91_740 |
Author(s) : Alzahrani AS , Baitei EY , Zou M , Shi Y |
Ref : J Clinical Endocrinology Metab , 91 :740 , 2006 |
Abstract : |
PubMedSearch : Alzahrani_2006_J.Clin.Endocrinol.Metab_91_740 |
PubMedID: 16403815 |
Gene_locus related to this paper: human-TG |
Title : A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation - Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
Author(s) : Rivolta CM , Moya CM , Gutnisky VJ , Varela V , Miralles-Garcia JM , Gonzalez-Sarmiento R , Targovnik HM |
Ref : J Clinical Endocrinology Metab , 90 :3766 , 2005 |
Abstract : |
PubMedSearch : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
PubMedID: 15769978 |
Gene_locus related to this paper: human-TG |
Title : The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin - Park_2004_J.Biol.Chem_279_17085 |
Author(s) : Park YN , Arvan P |
Ref : Journal of Biological Chemistry , 279 :17085 , 2004 |
Abstract : |
PubMedSearch : Park_2004_J.Biol.Chem_279_17085 |
PubMedID: 14764582 |
Gene_locus related to this paper: human-TG |
Title : Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism - Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
Author(s) : Vono-Toniolo J , Kopp P |
Ref : Arq Bras Endocrinol Metabol , 48 :70 , 2004 |
Abstract : |
PubMedSearch : Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
PubMedID: 15611820 |
Gene_locus related to this paper: human-TG |
Title : Two distinct compound heterozygous constellations (R277X\/IVS34-1G>C and R277X\/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis - Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
Author(s) : Gutnisky VJ , Moya CM , Rivolta CM , Domene S , Varela V , Toniolo JV , Medeiros-Neto G , Targovnik HM |
Ref : J Clinical Endocrinology Metab , 89 :646 , 2004 |
Abstract : |
PubMedSearch : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
PubMedID: 14764776 |
Gene_locus related to this paper: human-TG |
Title : Identification and characterization of a novel large insertion\/deletion polymorphism of 1464 base pair in the human thyroglobulin gene - Moya_2003_Thyroid_13_319 |
Author(s) : Moya CM , Varela V , Rivolta CM , Mendive FM , Targovnik HM |
Ref : Thyroid , 13 :319 , 2003 |
Abstract : |
PubMedSearch : Moya_2003_Thyroid_13_319 |
PubMedID: 12804099 |
Gene_locus related to this paper: human-TG |
Title : Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism - Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
Author(s) : Caron P , Moya CM , Malet D , Gutnisky VJ , Chabardes B , Rivolta CM , Targovnik HM |
Ref : J Clinical Endocrinology Metab , 88 :3546 , 2003 |
Abstract : |
PubMedSearch : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
PubMedID: 12915634 |
Gene_locus related to this paper: human-TG |
Title : Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease - Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
Author(s) : Ban Y , Greenberg DA , Concepcion E , Skrabanek L , Villanueva R , Tomer Y |
Ref : Proc Natl Acad Sci U S A , 100 :15119 , 2003 |
Abstract : |
PubMedSearch : Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
PubMedID: 14657345 |
Gene_locus related to this paper: human-TG |
Title : Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene - Rivolta_2002_Thyroid_12_773 |
Author(s) : Rivolta CM , Moya CM , Mendive FM , Targovnik HM |
Ref : Thyroid , 12 :773 , 2002 |
Abstract : |
PubMedSearch : Rivolta_2002_Thyroid_12_773 |
PubMedID: 12481942 |
Gene_locus related to this paper: human-TG |
Title : Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter - Gonzalez-Sarmiento_2001_Thyroid_11_789 |
Author(s) : Gonzalez-Sarmiento R , Corral J , Mories MT , Corrales JJ , Miguel-Velado E , Miralles-Garcia JM |
Ref : Thyroid , 11 :789 , 2001 |
Abstract : |
PubMedSearch : Gonzalez-Sarmiento_2001_Thyroid_11_789 |
PubMedID: 11525274 |
Gene_locus related to this paper: human-TG |
Title : Genomic organization of the human thyroglobulin gene: the complete intron-exon structure - Mendive_2001_Eur.J.Endocrinol_145_485 |
Author(s) : Mendive FM , Rivolta CM , Moya CM , Vassart G , Targovnik HM |
Ref : European Journal of Endocrinology , 145 :485 , 2001 |
Abstract : |
PubMedSearch : Mendive_2001_Eur.J.Endocrinol_145_485 |
PubMedID: 11581009 |
Gene_locus related to this paper: human-TG |
Title : Up to date with human thyroglobulin - van de Graaf_2001_J.Endocrinol_170_307 |
Author(s) : van de Graaf SA , Ris-Stalpers C , Pauws E , Mendive FM , Targovnik HM , de Vijlder JJ |
Ref : J Endocrinol , 170 :307 , 2001 |
Abstract : |
PubMedSearch : van de Graaf_2001_J.Endocrinol_170_307 |
PubMedID: 11479128 |
Gene_locus related to this paper: human-TG |
Title : Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene - Targovnik_2001_Thyroid_11_685 |
Author(s) : Targovnik HM , Rivolta CM , Mendive FM , Moya CM , Vono J , Medeiros-Neto G |
Ref : Thyroid , 11 :685 , 2001 |
Abstract : |
PubMedSearch : Targovnik_2001_Thyroid_11_685 |
PubMedID: 11484898 |
Gene_locus related to this paper: human-TG |
Title : Genomic organization of the 5' region of the human thyroglobulin gene - Moya_2000_Eur.J.Endocrinol_143_789 |
Author(s) : Moya CM , Mendive FM , Rivolta CM , Vassart G , Targovnik HM |
Ref : European Journal of Endocrinology , 143 :789 , 2000 |
Abstract : |
PubMedSearch : Moya_2000_Eur.J.Endocrinol_143_789 |
PubMedID: 11124863 |
Gene_locus related to this paper: human-TG |
Title : Identification of thyroid hormone residues on serum thyroglobulin: a clue to the source of circulating thyroglobulin in thyroid diseases - Druetta_1999_Eur.J.Endocrinol_140_457 |
Author(s) : Druetta L , Bornet H , Sassolas G , Rousset B |
Ref : European Journal of Endocrinology , 140 :457 , 1999 |
Abstract : |
PubMedSearch : Druetta_1999_Eur.J.Endocrinol_140_457 |
PubMedID: 10229914 |
Gene_locus related to this paper: human-TG |
Title : A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism - van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
Author(s) : van de Graaf SA , Ris-Stalpers C , Veenboer GJ , Cammenga M , Santos C , Targovnik HM , de Vijlder JJ , Medeiros-Neto G |
Ref : J Clinical Endocrinology Metab , 84 :2537 , 1999 |
Abstract : |
PubMedSearch : van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
PubMedID: 10404833 |
Gene_locus related to this paper: human-TG |
Title : Sulfated tyrosines of thyroglobulin are involved in thyroid hormone synthesis - Nlend_1999_Biochem.Biophys.Res.Commun_262_193 |
Author(s) : Nlend MC , Cauvi D , Venot N , Chabaud O |
Ref : Biochemical & Biophysical Research Communications , 262 :193 , 1999 |
Abstract : |
PubMedSearch : Nlend_1999_Biochem.Biophys.Res.Commun_262_193 |
PubMedID: 10448091 |
Gene_locus related to this paper: human-TG |
Title : Genomic organization of the 3' region of the human thyroglobulin gene - Mendive_1999_Thyroid_9_903 |
Author(s) : Mendive FM , Rivolta CM , Vassart G , Targovnik HM |
Ref : Thyroid , 9 :903 , 1999 |
Abstract : |
PubMedSearch : Mendive_1999_Thyroid_9_903 |
PubMedID: 10524569 |
Gene_locus related to this paper: human-TG |
Title : The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells - van de Graaf_1997_Eur.J.Endocrinol_136_508 |
Author(s) : van de Graaf SA , Pauws E , de Vijlder JJ , Ris-Stalpers C , Ris-Stalpers CR |
Ref : European Journal of Endocrinology , 136 :508 , 1997 |
Abstract : |
PubMedSearch : van de Graaf_1997_Eur.J.Endocrinol_136_508 |
PubMedID: 9186272 |
Gene_locus related to this paper: human-TG |
Title : Characterization of the type-1 repeat from thyroglobulin, a cysteine-rich module found in proteins from different families - Molina_1996_Eur.J.Biochem_240_125 |
Author(s) : Molina F , Bouanani M , Pau B , Granier C |
Ref : European Journal of Biochemistry , 240 :125 , 1996 |
Abstract : |
PubMedSearch : Molina_1996_Eur.J.Biochem_240_125 |
PubMedID: 8797845 |
Gene_locus related to this paper: human-TG |
Title : Selectivity in tyrosyl iodination sites in human thyroglobulin - Xiao_1996_Arch.Biochem.Biophys_334_284 |
Author(s) : Xiao S , Dorris ML , Rawitch AB , Taurog A |
Ref : Archives of Biochemistry & Biophysics , 334 :284 , 1996 |
Abstract : |
PubMedSearch : Xiao_1996_Arch.Biochem.Biophys_334_284 |
PubMedID: 8900403 |
Gene_locus related to this paper: human-TG |
Title : Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter - Perez-Centeno_1996_Thyroid_6_423 |
Author(s) : Perez-Centeno C , Gonzalez-Sarmiento R , Mories MT , Corrales JJ , Miralles-Garcia JM |
Ref : Thyroid , 6 :423 , 1996 |
Abstract : |
PubMedSearch : Perez-Centeno_1996_Thyroid_6_423 |
PubMedID: 8936666 |
Gene_locus related to this paper: human-TG |
Title : A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis - Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
Author(s) : Targovnik HM , Vono J , Billerbeck AE , Cerrone GE , Varela V , Mendive F , Wajchenberg BL , Medeiros-Neto G |
Ref : J Clinical Endocrinology Metab , 80 :3356 , 1995 |
Abstract : |
PubMedSearch : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
PubMedID: 7593451 |
Gene_locus related to this paper: human-TG |
Title : Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis - Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
Author(s) : Targovnik HM , Varela V , Frechtel GD , Cerrone GE , Copelli SB , Propato FV , Mendive F |
Ref : Brazilian Journal of Medical & Biological Research , 27 :2745 , 1994 |
Abstract : |
PubMedSearch : Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
PubMedID: 7549998 |
Gene_locus related to this paper: human-TG |
Title : Thyroglobulin gene point mutation associated with non-endemic simple goitre - Corral_1993_Lancet_341_462 |
Author(s) : Corral J , Martin C , Perez R , Sanchez I , Mories MT , San Millan JL , Miralles JM , Gonzalez-Sarmiento R |
Ref : Lancet , 341 :462 , 1993 |
Abstract : |
PubMedSearch : Corral_1993_Lancet_341_462 |
PubMedID: 8094490 |
Gene_locus related to this paper: human-TG |
Title : A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger - Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
Author(s) : Targovnik HM , Medeiros-Neto G , Varela V , Cochaux P , Wajchenberg BL , Vassart G |
Ref : J Clinical Endocrinology Metab , 77 :210 , 1993 |
Abstract : |
PubMedSearch : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
PubMedID: 8325944 |
Gene_locus related to this paper: human-TG |
Title : Identification of a minor Tg mRNA transcript in RNA from normal and goitrous thyroids - Targovnik_1992_Mol.Cell.Endocrinol_84_R23 |
Author(s) : Targovnik HM , Cochaux P , Corach D , Vassart G |
Ref : Mol Cell Endocrinol , 84 :R23 , 1992 |
Abstract : |
PubMedSearch : Targovnik_1992_Mol.Cell.Endocrinol_84_R23 |
PubMedID: 1639210 |
Gene_locus related to this paper: human-TG |
Title : Normal thyroglobulin and thyroperoxidase gene expression in thyroid congenital defective thyroglobulin synthesis - Targovnik_1991_Thyroid_1_339 |
Author(s) : Targovnik HM , Varela V , Abatangelo C , Wajchenberg BL , Medeiros-Neto G |
Ref : Thyroid , 1 :339 , 1991 |
Abstract : |
PubMedSearch : Targovnik_1991_Thyroid_1_339 |
PubMedID: 1726786 |
Gene_locus related to this paper: human-TG |
Title : Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis - Targovnik_1990_J.Endocrinol.Invest_13_797 |
Author(s) : Targovnik HM , Varela V , Juvenal GJ , Propato F , Chester HA , Krawiec L , Frechtel G , Moran DH , Perinetti HA , Pisarev MA |
Ref : J Endocrinol Invest , 13 :797 , 1990 |
Abstract : |
PubMedSearch : Targovnik_1990_J.Endocrinol.Invest_13_797 |
PubMedID: 2096156 |
Gene_locus related to this paper: human-TG |
Title : Consensus sequences for early iodination and hormonogenesis in human thyroglobulin - Lamas_1989_J.Biol.Chem_264_13541 |
Author(s) : Lamas L , Anderson PC , Fox JW , Dunn JT |
Ref : Journal of Biological Chemistry , 264 :13541 , 1989 |
Abstract : |
PubMedSearch : Lamas_1989_J.Biol.Chem_264_13541 |
PubMedID: 2760035 |
Gene_locus related to this paper: human-TG |
Title : Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and exonization during evolution - Parma_1987_J.Mol.Biol_196_769 |
Author(s) : Parma J , Christophe D , Pohl V , Vassart G |
Ref : Journal of Molecular Biology , 196 :769 , 1987 |
Abstract : |
PubMedSearch : Parma_1987_J.Mol.Biol_196_769 |
PubMedID: 3681978 |
Gene_locus related to this paper: bovin-thyro , human-TG |
Title : Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA - Malthiery_1987_Eur.J.Biochem_165_491 |
Author(s) : Malthiery Y , Lissitzky S |
Ref : European Journal of Biochemistry , 165 :491 , 1987 |
Abstract : |
PubMedSearch : Malthiery_1987_Eur.J.Biochem_165_491 |
PubMedID: 3595599 |
Gene_locus related to this paper: human-TG |
Title : Sequence of the 5'-end quarter of the human-thyroglobulin messenger ribonucleic acid and of its deduced amino-acid sequence - Malthiery_1985_Eur.J.Biochem_147_53 |
Author(s) : Malthiery Y , Lissitzky S |
Ref : European Journal of Biochemistry , 147 :53 , 1985 |
Abstract : |
PubMedSearch : Malthiery_1985_Eur.J.Biochem_147_53 |
PubMedID: 3971976 |
Gene_locus related to this paper: human-TG |
Title : An unusually long poly(purine)-poly(pyrimidine) sequence is located upstream from the human thyroglobulin gene - Christophe_1985_Nucleic.Acids.Res_13_5127 |
Author(s) : Christophe D , Cabrer B , Bacolla A , Targovnik H , Pohl V , Vassart G |
Ref : Nucleic Acids Research , 13 :5127 , 1985 |
Abstract : |
PubMedSearch : Christophe_1985_Nucleic.Acids.Res_13_5127 |
PubMedID: 2991855 |
Gene_locus related to this paper: human-TG |
Title : Structural organization of the 5' region of the human thyroglobulin gene - Targovnik_1984_Eur.J.Biochem_141_271 |
Author(s) : Targovnik HM , Pohl V , Christophe D , Cabrer B , Brocas H , Vassart G |
Ref : European Journal of Biochemistry , 141 :271 , 1984 |
Abstract : |
PubMedSearch : Targovnik_1984_Eur.J.Biochem_141_271 |
PubMedID: 6329751 |
Gene_locus related to this paper: human-TG |