Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Congenital goiter with hypothyroidism Natural mutation congenital hypothyroidism with goitre caused by compound heterozygous mutations p.C164Y\/p.L234fsX237 and p.R296X\/A2234D(R277X\/p.A2215D) Caputo_2007_Clin.Endocrinol.(Oxf)_67_351
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : Congenital goiter with hypothyroidism
Torpedo_number : 36
Kinetic Parameter : No kinetic parameter
News : MAY-25-2007
Comment : p.A2234D Ala2234Asp c.6701C>A (p.A2215D Ala2215Asp without 19-amino-acid signal peptide)
| 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 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 : 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 : 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 : 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 : 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 |