| Title : The p.Cys1281Tyr variant in the hinge module\/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism - Gomes_2023_Mol.Cell.Endocrinol_572_111948 |
| Author(s) : Gomes Pio M , Adrover E , Miras MB , Sobrero G , Molina MF , Scheps KG , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 572 :111948 , 2023 |
| Abstract : |
| PubMedSearch : Gomes_2023_Mol.Cell.Endocrinol_572_111948 |
| PubMedID: 37164149 |
| 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 : Compound heterozygous DUOX2 gene mutations (c.2335-1G>C\/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis - Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| Author(s) : Belforte FS , Citterio CE , Testa G , Olcese MC , Sobrero G , Miras MB , Targovnik HM , Rivolta CM |
| Ref : Mol Cell Endocrinol , 419 :172 , 2016 |
| Abstract : |
| PubMedSearch : Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| PubMedID: 26506010 |
| 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 |