Alternative name(s) : Genetic defect in thyroid hormogenesis III, Thyroglobulin synthesis defect
Gene_locus : human-TG
Mutation : 98 mutations IVS34-1G>C_human-TG IVS3-3C>G_human-TG Q870H_human-TG R1530X_human-TG L1851_R1896del_human-TG C1264R_human-TG C1996S_human-TG C183Y_human-TG L253fsX3_human-TG A2234D_human-TG K1374X_human-TG R296X_human-TG R2242H_human-TG Y126X_human-TG R787X_human-TG S913LfsX52_human-TG C1281Y_human-TG D1823IfsX29_human-TG C2000W_human-TG P2202R_human-TG R2336X_human-TG Q2016RfsX1_human-TG IVS3+2T>G_human-TG Q1784X_human-TG S450fsX477_human-TG L571fsX595_human-TG R451X_human-TG ex1-ex11del_human-TG R38K_human-TG C194G_human-TG IVS5+1G>A_human-TG Q329P_human-TG Y383TfsX19_human-TG Q711X_human-TG IVS10-1G>A_human-TG S990I_human-TG R1008C_human-TG P1012L_human-TG W1437X_human-TG S1466N_human-TG C1607F_human-TG D1513fsX1547_human-TG IVS24+1G>C_human-TG Q1796X_human-TG IVS30+1G>T_human-TG IVS30+1G>A_human-TG I1931V_human-TG C2006Y_human-TG IVS35+1delG_human-TG C2154Y_human-TG Q2161X_human-TG G2319D_human-TG G2374V_human-TG IVS45+2T>A_human-TG Q2657X_human-TG IVS46-1G>A_human-TG IVS8-1G>C_human-TG S734A_human-TG A1727HfsX26_human-TG T309A_human-TG R88W_human-TG T741M_human-TG R1270C_human-TG Q1525H_human-TG D1535G_human-TG A1773D_human-TG C1904G_human-TG R2585W_human-TG R2707X_human-TG L267F_human-TG T461I_human-TG C1051X_human-TG T1111R_human-TG L1726F_human-TG L2131fsX21_human-TG IVS39+1delG_human-TG IVS30+1G>C_human-TG IVS6+1G>A_human-TG IVS40+2T>A_human-TG W637X_human-TG Q630X_human-TG R1979W_human-TG Ex48Ex46inversion+del_human-TG Y1922X_human-TG G2375R_human-TG C1077R_human-TG C1897Y_human-TG R2336Q_human-TG G2341S_human-TG Q29X_human-TG F1542VfsX20_human-TG Y2563C_human-TG S523P_human-TG G145E_human-TG E1854X_human-TG A2362P_human-TG K1393X_human-TG W2365R_human-TG
Comment
(from OMIM) De Vijlder et al. (1983) described a presumably autosomal dominant form of hereditary congenital goiter in a mother and 4 of her 8 children. Goiter was present in other members of the mother's family. Thyroglobulin was found to be reduced in the thyroid (17 mg\/g thyroid tissue\; normal value = 50) and was more negatively charged than normal, as shown by isoelectric focusing and DEAE-cellulose chromatography. In the family with hereditary congenital hypothyroidism due to a defect in the synthesis and structure of thyroglobulin (de Vijlder et al., 1983), cosegregation of the rare defect and the polymorphism indicated that the hypothyroidism was caused by a mutation in the structural gene for thyroglobulin. Furthermore, the findings seem to indicate that the defect, in this family at least, is autosomal dominant, not recessive as usually thought. Van Ommen (1987) pointed out that the 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.| 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 : Citterio_2023_Protein.Sci__e4784 |
| ESTHER : Citterio_2023_Protein.Sci__e4784 |
| PubMedSearch : Citterio_2023_Protein.Sci__e4784 |
| PubMedID: 37717261 |
| Gene_locus related to this paper: bovin-thyro , 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 : Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
| ESTHER : Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
| PubMedSearch : Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
| PubMedID: 36012511 |
| Gene_locus related to this paper: 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 : Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| ESTHER : Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| PubMedSearch : Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| PubMedID: 35928386 |
| 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 : Zhang_2021_JCI.Insight_6_e148496 |
| ESTHER : Zhang_2021_JCI.Insight_6_e148496 |
| PubMedSearch : Zhang_2021_JCI.Insight_6_e148496 |
| PubMedID: 33914707 |
| 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 : Mizokami_2019_Intern.Med_58_2669 |
| ESTHER : Mizokami_2019_Intern.Med_58_2669 |
| PubMedSearch : Mizokami_2019_Intern.Med_58_2669 |
| PubMedID: 31178475 |
| 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 : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| ESTHER : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedID: 29275168 |
| 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 : Lo_2018_J.Autoimmun_86_116 |
| ESTHER : Lo_2018_J.Autoimmun_86_116 |
| 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 : Watanabe_2018_BMC.Med.Genet_19_69 |
| ESTHER : Watanabe_2018_BMC.Med.Genet_19_69 |
| PubMedSearch : Watanabe_2018_BMC.Med.Genet_19_69 |
| PubMedID: 29720101 |
| 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 : Lahooti_2017_Clin.Ophthalmol_11_1337 |
| ESTHER : Lahooti_2017_Clin.Ophthalmol_11_1337 |
| 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 : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| ESTHER : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| 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 : Li_2016_Eur.J.Hum.Genet_24_1274 |
| ESTHER : Li_2016_Eur.J.Hum.Genet_24_1274 |
| 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 : Hu_2016_Mol.Cell.Endocrinol_423_60 |
| ESTHER : Hu_2016_Mol.Cell.Endocrinol_423_60 |
| 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 : Mittal_2016_J.Hum.Genet_61_867 |
| ESTHER : Mittal_2016_J.Hum.Genet_61_867 |
| 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 : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| ESTHER : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| 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 : Di Jeso_2015_Endocr.Rev__er20151090 |
| ESTHER : Di Jeso_2015_Endocr.Rev__er20151090 |
| PubMedSearch : Di Jeso_2015_Endocr.Rev__er20151090 |
| PubMedID: 26595189 |
| 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 : Cangul_2014_Endocrine_45_206 |
| ESTHER : Cangul_2014_Endocrine_45_206 |
| 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 : Citterio_2013_Mol.Cell.Endocrinol_381_220 |
| ESTHER : Citterio_2013_Mol.Cell.Endocrinol_381_220 |
| 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 : Hermanns_2013_J.Pediatr.Endocrinol.Metab_26_119 |
| ESTHER : Hermanns_2013_J.Pediatr.Endocrinol.Metab_26_119 |
| 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 : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| ESTHER : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| 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 : Agretti_2013_Eur.J.Pediatr_172_959 |
| ESTHER : Agretti_2013_Eur.J.Pediatr_172_959 |
| PubMedSearch : Agretti_2013_Eur.J.Pediatr_172_959 |
| PubMedID: 23455760 |
| Gene_locus related to this paper: human-TG |
| Title : Dominant protein interactions that influence the pathogenesis of conformational diseases - Wright_2013_J.Clin.Invest_123_3124 |
| Author(s) : Wright J , Wang X , Haataja L , Kellogg AP , Lee J , Liu M , Arvan P |
| Ref : J Clinical Investigation , 123 :3124 , 2013 |
| Abstract : Wright_2013_J.Clin.Invest_123_3124 |
| ESTHER : Wright_2013_J.Clin.Invest_123_3124 |
| PubMedSearch : Wright_2013_J.Clin.Invest_123_3124 |
| PubMedID: 23722904 |
| 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 : Targovnik_2012_Mol.Cell.Endocrinol_348_313 |
| ESTHER : Targovnik_2012_Mol.Cell.Endocrinol_348_313 |
| 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 : De Jaco_2012_Febs.J_279_4293 |
| ESTHER : De Jaco_2012_Febs.J_279_4293 |
| 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 : Targovnik_2011_Horm.Res.Paediatr_75_311 |
| ESTHER : Targovnik_2011_Horm.Res.Paediatr_75_311 |
| 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 : Caputo_2010_Endocrine_37_389 |
| ESTHER : Caputo_2010_Endocrine_37_389 |
| PubMedSearch : Caputo_2010_Endocrine_37_389 |
| PubMedID: 20960158 |
| 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 : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| ESTHER : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedSearch : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedID: 19438905 |
| 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 : Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522 |
| ESTHER : Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522 |
| 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 : Raef_2010_J.Clin.Endocrinol.Metab_95_1000 |
| ESTHER : Raef_2010_J.Clin.Endocrinol.Metab_95_1000 |
| 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 : Targovnik_2010_Mol.Cell.Endocrinol_322_44 |
| ESTHER : Targovnik_2010_Mol.Cell.Endocrinol_322_44 |
| 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 : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| ESTHER : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| PubMedSearch : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| PubMedID: 20447071 |
| 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 : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| ESTHER : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| 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 : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| ESTHER : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| PubMedSearch : Niu_2009_J.Clin.Endocrinol.Metab_94_5045 |
| PubMedID: 19837936 |
| 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 : Pardo_2008_Thyroid_18_783 |
| ESTHER : Pardo_2008_Thyroid_18_783 |
| PubMedSearch : Pardo_2008_Thyroid_18_783 |
| PubMedID: 18631008 |
| 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 : Kim_2008_Mol.Endocrinol_22_477 |
| ESTHER : Kim_2008_Mol.Endocrinol_22_477 |
| PubMedSearch : Kim_2008_Mol.Endocrinol_22_477 |
| PubMedID: 17916655 |
| 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 : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| ESTHER : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedSearch : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedID: 17532758 |
| 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 : Caputo_2007_J.Endocrinol_195_167 |
| ESTHER : Caputo_2007_J.Endocrinol_195_167 |
| PubMedSearch : Caputo_2007_J.Endocrinol_195_167 |
| PubMedID: 17911408 |
| 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 : Alzahrani_2006_J.Clin.Endocrinol.Metab_91_740 |
| ESTHER : Alzahrani_2006_J.Clin.Endocrinol.Metab_91_740 |
| PubMedSearch : Alzahrani_2006_J.Clin.Endocrinol.Metab_91_740 |
| PubMedID: 16403815 |
| Gene_locus related to this paper: human-TG |
| Title : Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan - Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| Author(s) : Hishinuma A , Fukata S , Nishiyama S , Nishi Y , Oh-Ishi M , Murata Y , Ohyama Y , Matsuura N , Kasai K , Harada S , Kitanaka S , Takamatsu J , Kiwaki K , Ohye H , Uruno T , Tomoda C , Tajima T , Kuma K , Miyauchi A , Ieiri T |
| Ref : J Clinical Endocrinology Metab , 91 :3100 , 2006 |
| Abstract : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| ESTHER : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedSearch : Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100 |
| PubMedID: 16720658 |
| 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 : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
| ESTHER : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
| PubMedSearch : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
| PubMedID: 15769978 |
| 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 : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| ESTHER : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedSearch : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedID: 14764776 |
| 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 : Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| ESTHER : Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| PubMedSearch : Vono-Toniolo_2004_Arq.Bras.Endocrinol.Metabol_48_70 |
| PubMedID: 15611820 |
| 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 : Moya_2003_Thyroid_13_319 |
| ESTHER : Moya_2003_Thyroid_13_319 |
| 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 : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| ESTHER : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| 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 : Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
| ESTHER : Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
| PubMedSearch : Ban_2003_Proc.Natl.Acad.Sci.U.S.A_100_15119 |
| PubMedID: 14657345 |
| Gene_locus related to this paper: human-TG |
| Title : Analysis of Tg transcripts by real-time RT-PCR in the blood of thyroid cancer patients - Savagner_2002_J.Clin.Endocrinol.Metab_87_635 |
| Author(s) : Savagner F , Rodien P , Reynier P , Rohmer V , Bigorgne JC , Malthiery Y |
| Ref : J Clinical Endocrinology Metab , 87 :635 , 2002 |
| Abstract : Savagner_2002_J.Clin.Endocrinol.Metab_87_635 |
| ESTHER : Savagner_2002_J.Clin.Endocrinol.Metab_87_635 |
| PubMedSearch : Savagner_2002_J.Clin.Endocrinol.Metab_87_635 |
| PubMedID: 11836297 |
| 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 : Targovnik_2001_Thyroid_11_685 |
| ESTHER : Targovnik_2001_Thyroid_11_685 |
| PubMedSearch : Targovnik_2001_Thyroid_11_685 |
| PubMedID: 11484898 |
| 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 : Gonzalez-Sarmiento_2001_Thyroid_11_789 |
| ESTHER : Gonzalez-Sarmiento_2001_Thyroid_11_789 |
| PubMedSearch : Gonzalez-Sarmiento_2001_Thyroid_11_789 |
| PubMedID: 11525274 |
| 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 : van de Graaf_2001_J.Endocrinol_170_307 |
| ESTHER : van de Graaf_2001_J.Endocrinol_170_307 |
| PubMedSearch : van de Graaf_2001_J.Endocrinol_170_307 |
| PubMedID: 11479128 |
| Gene_locus related to this paper: human-TG |
| Title : A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat - Kim_2000_Mol.Endocrinol_14_1944 |
| Author(s) : Kim PS , Ding M , Menon S , Jung CG , Cheng JM , Miyamoto T , Li B , Furudate S , Agui T |
| Ref : Mol Endocrinol , 14 :1944 , 2000 |
| Abstract : Kim_2000_Mol.Endocrinol_14_1944 |
| ESTHER : Kim_2000_Mol.Endocrinol_14_1944 |
| PubMedSearch : Kim_2000_Mol.Endocrinol_14_1944 |
| PubMedID: 11117525 |
| Gene_locus related to this paper: ratno-thyro |
| Title : Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter - Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| Author(s) : Hishinuma A , Takamatsu J , Ohyama Y , Yokozawa T , Kanno Y , Kuma K , Yoshida S , Matsuura N , Ieiri T |
| Ref : J Clinical Endocrinology Metab , 84 :1438 , 1999 |
| Abstract : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| ESTHER : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| PubMedSearch : Hishinuma_1999_J.Clin.Endocrinol.Metab_84_1438 |
| PubMedID: 10199792 |
| Title : Expression of the Na+\/I- symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes - Lazar_1999_J.Clin.Endocrinol.Metab_84_3228 |
| Author(s) : Lazar V , Bidart JM , Caillou B , Mahe C , Lacroix L , Filetti S , Schlumberger M |
| Ref : J Clinical Endocrinology Metab , 84 :3228 , 1999 |
| Abstract : Lazar_1999_J.Clin.Endocrinol.Metab_84_3228 |
| ESTHER : Lazar_1999_J.Clin.Endocrinol.Metab_84_3228 |
| PubMedSearch : Lazar_1999_J.Clin.Endocrinol.Metab_84_3228 |
| PubMedID: 10487692 |
| 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 : van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
| ESTHER : van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
| PubMedSearch : van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
| PubMedID: 10404833 |
| Gene_locus related to this paper: human-TG |
| Title : Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism - Targovnik_1998_Thyroid_8_291 |
| Author(s) : Targovnik HM , Frechtel GD , Mendive FM , Vono J , Cochaux P , Vassart G , Medeiros-Neto G |
| Ref : Thyroid , 8 :291 , 1998 |
| Abstract : Targovnik_1998_Thyroid_8_291 |
| ESTHER : Targovnik_1998_Thyroid_8_291 |
| PubMedSearch : Targovnik_1998_Thyroid_8_291 |
| PubMedID: 9588493 |
| Title : A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog\/cog mouse: a model of human endoplasmic reticulum storage diseases - Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| Author(s) : Kim PS , Hossain SA , Park YN , Lee I , Yoo SE , Arvan P |
| Ref : Proc Natl Acad Sci U S A , 95 :9909 , 1998 |
| Abstract : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| ESTHER : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| PubMedSearch : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| PubMedID: 9707574 |
| Gene_locus related to this paper: mouse-thyro |
| Title : Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis - |
| Author(s) : Medeiros-Neto G , Bunduki V , Tomimori E , Gomes S , Knobel M , Martin RT , Zugaib M |
| Ref : J Clinical Endocrinology Metab , 82 :4239 , 1997 |
| PubMedID: 9398747 |
| 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 : Perez-Centeno_1996_Thyroid_6_423 |
| ESTHER : Perez-Centeno_1996_Thyroid_6_423 |
| PubMedSearch : Perez-Centeno_1996_Thyroid_6_423 |
| PubMedID: 8936666 |
| Gene_locus related to this paper: human-TG |
| Title : A variant of adenomatous goiter with characteristic histology and possible hereditary thyroglobulin abnormality - Yoshida_1996_J.Clin.Endocrinol.Metab_81_1961 |
| Author(s) : Yoshida S , Takamatsu J , Kuma K , Murakami Y , Sakane S , Katayama S , Tarutani O , Ohsawa N |
| Ref : J Clinical Endocrinology Metab , 81 :1961 , 1996 |
| Abstract : Yoshida_1996_J.Clin.Endocrinol.Metab_81_1961 |
| ESTHER : Yoshida_1996_J.Clin.Endocrinol.Metab_81_1961 |
| PubMedSearch : Yoshida_1996_J.Clin.Endocrinol.Metab_81_1961 |
| PubMedID: 8626865 |
| 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 : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| ESTHER : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| 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 : Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
| ESTHER : Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
| PubMedSearch : Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
| PubMedID: 7549998 |
| 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 : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| ESTHER : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| PubMedSearch : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| PubMedID: 8325944 |
| 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 : Corral_1993_Lancet_341_462 |
| ESTHER : Corral_1993_Lancet_341_462 |
| PubMedSearch : Corral_1993_Lancet_341_462 |
| PubMedID: 8094490 |
| Gene_locus related to this paper: human-TG |
| Title : Identification of a splicing mutation responsible for a human hereditary goiter with hypothyroidism. (Abstract) - |
| Author(s) : Cochaux P , Ieiri T , Targovnik H , Suzuki M , Shimoda SI , Perret J , Vassart G |
| Ref : American Journal of Human Genetics , 49 (suppl.) :131 , 1991 |
| PubMedID: |
| Title : A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism - Ieiri_1991_J.Clin.Invest_88_1901 |
| Author(s) : Ieiri T , Cochaux P , Targovnik HM , Suzuki M , Shimoda S , Perret J , Vassart G |
| Ref : J Clinical Investigation , 88 :1901 , 1991 |
| Abstract : Ieiri_1991_J.Clin.Invest_88_1901 |
| ESTHER : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedSearch : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedID: 1752952 |
| Title : Mutant gene-induced disorders of structure, function and thyroglobulin synthesis in congenital goitre (cog\/cog) in mice - Adkison_1990_J.Endocrinol_126_51 |
| Author(s) : Adkison LR , Taylor S , Beamer WG |
| Ref : J Endocrinol , 126 :51 , 1990 |
| Abstract : Adkison_1990_J.Endocrinol_126_51 |
| ESTHER : Adkison_1990_J.Endocrinol_126_51 |
| PubMedSearch : Adkison_1990_J.Endocrinol_126_51 |
| PubMedID: 1696305 |
| 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 : Targovnik_1990_J.Endocrinol.Invest_13_797 |
| ESTHER : Targovnik_1990_J.Endocrinol.Invest_13_797 |
| PubMedSearch : Targovnik_1990_J.Endocrinol.Invest_13_797 |
| PubMedID: 2096156 |
| Gene_locus related to this paper: human-TG |
| Title : Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis - Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| Author(s) : Targovnik H , Propato F , Varela V , Wajchenberg B , Knobel M , D'Abronzo HF , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 69 :1137 , 1989 |
| Abstract : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| ESTHER : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| PubMedSearch : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| PubMedID: 2584351 |
| Title : Autosomal recessive inheritance of goiter in Dutch goats - Kok_1987_J.Hered_78_298 |
| Author(s) : Kok K , van Dijk JE , Sterk A , Baas F , van Ommen GJ , de Vijlder JJ |
| Ref : Journal of Heredity , 78 :298 , 1987 |
| Abstract : Kok_1987_J.Hered_78_298 |
| ESTHER : Kok_1987_J.Hered_78_298 |
| PubMedSearch : Kok_1987_J.Hered_78_298 |
| PubMedID: 3680925 |
| 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 : Parma_1987_J.Mol.Biol_196_769 |
| ESTHER : Parma_1987_J.Mol.Biol_196_769 |
| PubMedSearch : Parma_1987_J.Mol.Biol_196_769 |
| PubMedID: 3681978 |
| Gene_locus related to this paper: bovin-thyro , human-TG |
| Title : Merging autosomal dominance and recessivity - |
| Author(s) : Van Ommen GB |
| Ref : American Journal of Human Genetics , 41 :689 , 1987 |
| PubMedID: 3661566 |
| Title : Inherited congenital goiter in mice - Beamer_1987_Endocrinology_120_838 |
| Author(s) : Beamer WG , Maltais LJ , DeBaets MH , Eicher EM |
| Ref : Endocrinology , 120 :838 , 1987 |
| Abstract : Beamer_1987_Endocrinology_120_838 |
| ESTHER : Beamer_1987_Endocrinology_120_838 |
| PubMedSearch : Beamer_1987_Endocrinology_120_838 |
| PubMedID: 3803305 |
| Title : A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts - Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181 |
| Author(s) : Ricketts MH , Simons MJ , Parma J , Mercken L , Dong Q , Vassart G |
| Ref : Proc Natl Acad Sci U S A , 84 :3181 , 1987 |
| Abstract : Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181 |
| ESTHER : Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181 |
| PubMedSearch : Ricketts_1987_Proc.Natl.Acad.Sci.U.S.A_84_3181 |
| PubMedID: 3472203 |
| Title : The congenital goiter mutation is linked to the thyroglobulin gene in the mouse - Taylor_1987_Proc.Natl.Acad.Sci.U.S.A_84_1986 |
| Author(s) : Taylor BA , Rowe L |
| Ref : Proc Natl Acad Sci U S A , 84 :1986 , 1987 |
| Abstract : Taylor_1987_Proc.Natl.Acad.Sci.U.S.A_84_1986 |
| ESTHER : Taylor_1987_Proc.Natl.Acad.Sci.U.S.A_84_1986 |
| PubMedSearch : Taylor_1987_Proc.Natl.Acad.Sci.U.S.A_84_1986 |
| PubMedID: 2882514 |
| Gene_locus related to this paper: mouse-thyro |
| 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 : Malthiery_1987_Eur.J.Biochem_165_491 |
| ESTHER : Malthiery_1987_Eur.J.Biochem_165_491 |
| PubMedSearch : Malthiery_1987_Eur.J.Biochem_165_491 |
| PubMedID: 3595599 |
| Gene_locus related to this paper: human-TG |
| Title : The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb - Baas_1986_Nucleic.Acids.Res_14_5171 |
| Author(s) : Baas F , van Ommen GJ , Bikker H , Arnberg AC , de Vijlder JJ |
| Ref : Nucleic Acids Research , 14 :5171 , 1986 |
| Abstract : Baas_1986_Nucleic.Acids.Res_14_5171 |
| ESTHER : Baas_1986_Nucleic.Acids.Res_14_5171 |
| PubMedSearch : Baas_1986_Nucleic.Acids.Res_14_5171 |
| PubMedID: 3016640 |
| Title : Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization - Avvedimento_1985_Hum.Genet_71_163 |
| Author(s) : Avvedimento VE , Di Lauro R , Monticelli A , Bernardi F , Patracchini P , Calzolari E , Martini G , Varrone S |
| Ref : Hum Genet , 71 :163 , 1985 |
| Abstract : Avvedimento_1985_Hum.Genet_71_163 |
| ESTHER : Avvedimento_1985_Hum.Genet_71_163 |
| PubMedSearch : Avvedimento_1985_Hum.Genet_71_163 |
| PubMedID: 4043966 |
| Title : The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24 - Baas_1985_Hum.Genet_69_138 |
| Author(s) : Baas F , Bikker H , Geurts van Kessel A , Melsert R , Pearson PL , de Vijlder JJ , van Ommen GJ |
| Ref : Hum Genet , 69 :138 , 1985 |
| Abstract : Baas_1985_Hum.Genet_69_138 |
| ESTHER : Baas_1985_Hum.Genet_69_138 |
| PubMedSearch : Baas_1985_Hum.Genet_69_138 |
| PubMedID: 2982724 |
| Title : Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization - Landegent_1985_Nature_317_175 |
| Author(s) : Landegent JE , Jansen in de Wal N , van Ommen GJ , Baas F , de Vijlder JJ , van Duijn P , Van der Ploeg M |
| Ref : Nature , 317 :175 , 1985 |
| Abstract : Landegent_1985_Nature_317_175 |
| ESTHER : Landegent_1985_Nature_317_175 |
| PubMedSearch : Landegent_1985_Nature_317_175 |
| PubMedID: 3839907 |
| Title : Defective splicing of thyroglobulin gene transcripts in the congenital goitre of the Afrikander cattle - Ricketts_1985_EMBO.J_4_731 |
| Author(s) : Ricketts MH , Pohl V , de Martynoff G , Boyd CD , Bester AJ , Van Jaarsveld PP , Vassart G |
| Ref : EMBO Journal , 4 :731 , 1985 |
| Abstract : Ricketts_1985_EMBO.J_4_731 |
| ESTHER : Ricketts_1985_EMBO.J_4_731 |
| PubMedSearch : Ricketts_1985_EMBO.J_4_731 |
| PubMedID: 2988933 |
| Title : Localization of the thyroglobulin gene by in situ hybridization to human chromosomes - Berge-Lefranc_1985_Hum.Genet_69_28 |
| Author(s) : Berge-Lefranc JL , Cartouzou G , Mattei MG , Passage E , Malezet-Desmoulins C , Lissitzky S |
| Ref : Hum Genet , 69 :28 , 1985 |
| Abstract : Berge-Lefranc_1985_Hum.Genet_69_28 |
| ESTHER : Berge-Lefranc_1985_Hum.Genet_69_28 |
| PubMedSearch : Berge-Lefranc_1985_Hum.Genet_69_28 |
| PubMedID: 3967888 |
| Title : The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat - Brocas_1985_Cytogenet.Cell.Genet_39_150 |
| Author(s) : Brocas H , Szpirer J , Lebo RV , Levan G , Szpirer C , Cheung MC , Vassart G |
| Ref : Cytogenet Cell Genet , 39 :150 , 1985 |
| Abstract : Brocas_1985_Cytogenet.Cell.Genet_39_150 |
| ESTHER : Brocas_1985_Cytogenet.Cell.Genet_39_150 |
| PubMedSearch : Brocas_1985_Cytogenet.Cell.Genet_39_150 |
| PubMedID: 4006519 |
| Title : Chromosome mapping and polymorphism study of the human thyroglobulin gene. (Abstract) - |
| Author(s) : Van Ommen G-JB , Baas F , Arnberg AC , Pearson PL , De Vijlder JJM |
| Ref : Cytogenet Cell Genet , 37 :562 , 1984 |
| PubMedID: |
| Title : Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele - Baas_1984_Hum.Genet_67_301 |
| Author(s) : Baas F , Bikker H , van Ommen GJ , de Vijlder JJ |
| Ref : Hum Genet , 67 :301 , 1984 |
| Abstract : Baas_1984_Hum.Genet_67_301 |
| ESTHER : Baas_1984_Hum.Genet_67_301 |
| PubMedSearch : Baas_1984_Hum.Genet_67_301 |
| PubMedID: 6088387 |
| Title : Autosomal dominant inheritance of a thyroglobulin abnormality suggests cooperation of sub-units in hormone formation - |
| Author(s) : De Vijlder JJM , Baas F , Koch CAM , Kok K , Gons M |
| Ref : Ann Endocrinol (Paris) , 44 :36 , 1983 |
| PubMedID: |
| Title : Inherited disorders of thyroid metabolism - Lever_1983_Endocr.Rev_4_213 |
| Author(s) : Lever EG , Medeiros-Neto GA , DeGroot LJ |
| Ref : Endocr Rev , 4 :213 , 1983 |
| Abstract : Lever_1983_Endocr.Rev_4_213 |
| ESTHER : Lever_1983_Endocr.Rev_4_213 |
| PubMedSearch : Lever_1983_Endocr.Rev_4_213 |
| PubMedID: 6354701 |
| Title : Abnormal cellular localization of thyroglobulin mRNA associated with hereditary congenital goiter and thyroglobulin deficiency - Van Voorthuizen_1978_Proc.Natl.Acad.Sci.U.S.A_75_74 |
| Author(s) : Van Voorthuizen WF , Dinsart C , Flavell RA , DeVijlder JJ , Vassart G |
| Ref : Proc Natl Acad Sci U S A , 75 :74 , 1978 |
| Abstract : Van Voorthuizen_1978_Proc.Natl.Acad.Sci.U.S.A_75_74 |
| ESTHER : Van Voorthuizen_1978_Proc.Natl.Acad.Sci.U.S.A_75_74 |
| PubMedSearch : Van Voorthuizen_1978_Proc.Natl.Acad.Sci.U.S.A_75_74 |
| PubMedID: 272675 |
| Title : Defective thyroglobulin export as a cause of congenital goitre - Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363 |
| Author(s) : Lissitzky S , Torresani J , Burrow GN , Bouchilloux S , Chabaud O |
| Ref : Clinical Endocrinology (Oxf) , 4 :363 , 1975 |
| Abstract : Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363 |
| ESTHER : Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363 |
| PubMedSearch : Lissitzky_1975_Clin.Endocrinol.(Oxf)_4_363 |
| PubMedID: 1157342 |
| Title : A goitrous subject with structural abnormality of thyroglobulin - |
| Author(s) : Kusakabe T |
| Ref : J Clinical Endocrinology Metab , 35 :785 , 1972 |
| PubMedID: 4628864 |
| Title : Studies on the congenitally goitrous sheep. Iodoproteins of the goitre - Falconer_1970_Biochem.J_117_417 |
| Author(s) : Falconer IR , Roitt IM , Seamark RF , Torrigiani G |
| Ref : Biochemical Journal , 117 :417 , 1970 |
| Abstract : Falconer_1970_Biochem.J_117_417 |
| ESTHER : Falconer_1970_Biochem.J_117_417 |
| PubMedSearch : Falconer_1970_Biochem.J_117_417 |
| PubMedID: 5419739 |
| Title : Familial goiter with diminished synthesis of thyroglobulin. - |
| Author(s) : Riddick FAJr , Desai KB , Murison PJ , Stanbury JB |
| Ref : J Exp Med , 150 :203 , 1969 |
| PubMedID: |
| Title : Congenital goiter with hypothyroidism and iodo-serum albumin replacing thyroglobulin - |
| Author(s) : Lissitzky S , Codaccioni JL , Bismuth J , Depieds R |
| Ref : J Clinical Endocrinology Metab , 27 :185 , 1967 |
| PubMedID: 4163612 |
| Title : Goitre and cretinism due to the production of an abnormal iodinated thyroid compound - |
| Author(s) : McGirr EM , Hutchison JH , Clement WE , Kennedy JS , Currie AR |
| Ref : Scot. Med. J , 5 :189 , 1960 |
| PubMedID: |