Gene Locus : ratno-thyro
Mode of mutation : Natural mutant
Disease :
Summary : hypothyroidism G2320R causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat Kim_2000_Mol.Endocrinol_14_1944
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : Congenital goiter with hypothyroidism
Torpedo_number : 132
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.Gly2320Arg
| Title : A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth - Gualeni_2013_Dis.Model.Mech_6_1414 |
| Author(s) : Gualeni B , Rajpar MH , Kellogg A , Bell PA , Arvan P , Boot-Handford RP , Briggs MD |
| Ref : Dis Model Mech , 6 :1414 , 2013 |
| Abstract : |
| PubMedSearch : Gualeni_2013_Dis.Model.Mech_6_1414 |
| PubMedID: 24046357 |
| Gene_locus related to this paper: ratno-thyro |
| Title : Oxidoreductase interactions include a role for ERp72 engagement with mutant thyroglobulin from the rdw\/rdw rat dwarf - Menon_2007_J.Biol.Chem_282_6183 |
| Author(s) : Menon S , Lee J , Abplanalp WA , Yoo SE , Agui T , Furudate S , Kim PS , Arvan P |
| Ref : Journal of Biological Chemistry , 282 :6183 , 2007 |
| Abstract : |
| PubMedSearch : Menon_2007_J.Biol.Chem_282_6183 |
| PubMedID: 17200118 |
| Gene_locus related to this paper: ratno-thyro |
| Title : Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism - Baryshev_2004_J.Mol.Endocrinol_32_903 |
| Author(s) : Baryshev M , Sargsyan E , Wallin G , Lejnieks A , Furudate S , Hishinuma A , Mkrtchian S |
| Ref : J Mol Endocrinol , 32 :903 , 2004 |
| Abstract : |
| PubMedSearch : Baryshev_2004_J.Mol.Endocrinol_32_903 |
| PubMedID: 15171721 |
| 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 : |
| PubMedSearch : Kim_2000_Mol.Endocrinol_14_1944 |
| PubMedID: 11117525 |
| Gene_locus related to this paper: ratno-thyro |
| Title : A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats - Hishinuma_2000_Endocrinology_141_4050 |
| Author(s) : Hishinuma A , Furudate S , Oh-Ishi M , Nagakubo N , Namatame T , Ieiri T |
| Ref : Endocrinology , 141 :4050 , 2000 |
| Abstract : |
| PubMedSearch : Hishinuma_2000_Endocrinology_141_4050 |
| PubMedID: 11089535 |
| Gene_locus related to this paper: ratno-thyro |