G2320R_ratno-thyro

General

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

References (5)

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