| Title : The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism - Siffo_2023_Endocrine_80_47 |
| Author(s) : Siffo S , Gomes Pio M , Martinez EB , Lachlan K , Walker J , Weill J , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Endocrine , 80 :47 , 2023 |
| Abstract : |
| PubMedSearch : Siffo_2023_Endocrine_80_47 |
| PubMedID: 36547798 |
| Title : The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism - Siffo_2023_Endocrine_80_47 |
| Author(s) : Siffo S , Gomes Pio M , Martinez EB , Lachlan K , Walker J , Weill J , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Endocrine , 80 :47 , 2023 |
| Abstract : |
| PubMedSearch : Siffo_2023_Endocrine_80_47 |
| PubMedID: 36547798 |
| Title : A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis - Pio_2021_Mol.Cell.Endocrinol_522_111124 |
| Author(s) : Pio MG , Molina MF , Siffo S , Chiesa A , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 522 :111124 , 2021 |
| Abstract : |
| PubMedSearch : Pio_2021_Mol.Cell.Endocrinol_522_111124 |
| PubMedID: 33321114 |
| Title : Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms - Pio_2021_Mol.Cell.Endocrinol_534_111359 |
| Author(s) : Pio MG , Siffo S , Scheps KG , Molina MF , Adrover E , Abelleyro MM , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 534 :111359 , 2021 |
| Abstract : |
| PubMedSearch : Pio_2021_Mol.Cell.Endocrinol_534_111359 |
| PubMedID: 34119605 |
| Title : A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis - Pio_2021_Mol.Cell.Endocrinol_522_111124 |
| Author(s) : Pio MG , Molina MF , Siffo S , Chiesa A , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 522 :111124 , 2021 |
| Abstract : |
| PubMedSearch : Pio_2021_Mol.Cell.Endocrinol_522_111124 |
| PubMedID: 33321114 |
| Title : Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms - Pio_2021_Mol.Cell.Endocrinol_534_111359 |
| Author(s) : Pio MG , Siffo S , Scheps KG , Molina MF , Adrover E , Abelleyro MM , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 534 :111359 , 2021 |
| Abstract : |
| PubMedSearch : Pio_2021_Mol.Cell.Endocrinol_534_111359 |
| PubMedID: 34119605 |
| Title : p.L571P in the linker domain of rat thyroglobulin causes intracellular retention - Citterio_2020_Mol.Cell.Endocrinol_505_110719 |
| Author(s) : Citterio CE , Siffo S , Moya CM , Pio MG , Molina MF , Scheps KG , Rey OA , Arvan P , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 505 :110719 , 2020 |
| Abstract : |
| PubMedSearch : Citterio_2020_Mol.Cell.Endocrinol_505_110719 |
| PubMedID: 31972331 |
| Title : p.L571P in the linker domain of rat thyroglobulin causes intracellular retention - Citterio_2020_Mol.Cell.Endocrinol_505_110719 |
| Author(s) : Citterio CE , Siffo S , Moya CM , Pio MG , Molina MF , Scheps KG , Rey OA , Arvan P , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 505 :110719 , 2020 |
| Abstract : |
| PubMedSearch : Citterio_2020_Mol.Cell.Endocrinol_505_110719 |
| PubMedID: 31972331 |
| 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 : 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 |