human-TG

Homo sapiens (Human) Thyroglobulin TG Tg

Comment

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

Relationship

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 E

Molecular evidence

A1727HfsX26_human-TG A1773D_human-TG A2234D_human-TG A2362P_human-TG C1051X_human-TG C1077R_human-TG C1264R_human-TG C1281Y_human-TG C1607F_human-TG C183Y_human-TG C1897Y_human-TG C1904G_human-TG C194G_human-TG C1996S_human-TG C2000W_human-TG C2006Y_human-TG C2154Y_human-TG D1513fsX1547_human-TG D1535G_human-TG D1823IfsX29_human-TG E1854X_human-TG Ex48Ex46inversion+del_human-TG F1542VfsX20_human-TG G145E_human-TG G2319D_human-TG G2341S_human-TG G2374V_human-TG G2375R_human-TG I1931V_human-TG IVS10-1G>A_human-TG IVS24+1G>C_human-TG IVS3+2T>G_human-TG IVS3-3C>G_human-TG IVS30+1G>A_human-TG IVS30+1G>C_human-TG IVS30+1G>T_human-TG IVS34-1G>C_human-TG IVS35+1delG_human-TG IVS39+1delG_human-TG IVS40+2T>A_human-TG IVS45+2T>A_human-TG IVS46-1G>A_human-TG IVS5+1G>A_human-TG IVS6+1G>A_human-TG IVS8-1G>C_human-TG K1374X_human-TG K1393X_human-TG L1726F_human-TG L1851_R1896del_human-TG L2131fsX21_human-TG L253fsX3_human-TG L267F_human-TG L571fsX595_human-TG P1012L_human-TG P2202R_human-TG Q1525H_human-TG Q1784X_human-TG Q1796X_human-TG Q2016RfsX1_human-TG Q2161X_human-TG Q2657X_human-TG Q29X_human-TG Q329P_human-TG Q630X_human-TG Q711X_human-TG Q870H_human-TG R1008C_human-TG R1270C_human-TG R1530X_human-TG R1979W_human-TG R2242H_human-TG R2336Q_human-TG R2336X_human-TG R2336_K2768del_human-TG R2585W_human-TG R2707X_human-TG R296X_human-TG R38K_human-TG R451X_human-TG R787X_human-TG R88W_human-TG S1466N_human-TG S2197_K2768del_human-TG S450fsX477_human-TG S523P_human-TG S734A_human-TG S913LfsX52_human-TG S990I_human-TG T1111R_human-TG T309A_human-TG T461I_human-TG T741M_human-TG W1437X_human-TG W2365R_human-TG W637X_human-TG Y126X_human-TG Y1922X_human-TG Y2563C_human-TG Y383TfsX19_human-TG ex1-ex11del_human-TG

No kinetic

No substrate

No inhibitor

Sequence

Peptide

HGRLLGRSQA 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

References (78)

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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
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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 : DNA sequence and analysis of human chromosome 8 - Nusbaum_2006_Nature_439_331
Author(s) : Nusbaum C , Mikkelsen TS , Zody MC , Asakawa S , Taudien S , Garber M , Kodira CD , Schueler MG , Shimizu A , Whittaker CA , Chang JL , Cuomo CA , Dewar K , Fitzgerald MG , Yang X , Allen NR , Anderson S , Asakawa T , Blechschmidt K , Bloom T , Borowsky ML , Butler J , Cook A , Corum B , DeArellano K , Decaprio D , Dooley KT , Dorris L, 3rd , Engels R , Glockner G , Hafez N , Hagopian DS , Hall JL , Ishikawa SK , Jaffe DB , Kamat A , Kudoh J , Lehmann R , Lokitsang T , Macdonald P , Major JE , Matthews CD , Mauceli E , Menzel U , Mihalev AH , Minoshima S , Murayama Y , Naylor JW , Nicol R , Nguyen C , O'Leary SB , O'Neill K , Parker SC , Polley A , Raymond CK , Reichwald K , Rodriguez J , Sasaki T , Schilhabel M , Siddiqui R , Smith CL , Sneddon TP , Talamas JA , Tenzin P , Topham K , Venkataraman V , Wen G , Yamazaki S , Young SK , Zeng Q , Zimmer AR , Rosenthal A , Birren BW , Platzer M , Shimizu N , Lander ES
Ref : Nature , 439 :331 , 2006
Abstract :
PubMedSearch : Nusbaum_2006_Nature_439_331
PubMedID: 16421571
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