Alternative name(s) :
Gene_locus : human-EPHX1
Mutation : 2 mutations T333P_human-EPHX1 G430R_human-EPHX1
Comment
Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition to the traditional signs of diabetes. Some genes involved Congenital Generalized Lipodystrophy (CGL2,3,4) BSCL2, CAV1 AGPAT2, CAVIN1. Two de novo variants located in EPHX1 catalytic site in patients with a lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. Metreleptin therapy had a beneficial effect in one patient showed that the high activity haplotype T\/A (tyr113\/his139) was significantly overrepresented in the preeclampsia group (P = 0.01\; odds ratio 1.61, 95\% CI, 1.12-2.32)| Title : EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence - Gautheron_2021_Elife_10_ |
| Author(s) : Gautheron J , Morisseau C , Chung WK , Zammouri J , Auclair M , Baujat G , Capel E , Moulin C , Wang Y , Yang J , Hammock BD , Cerame B , Phan F , Feve B , Vigouroux C , Andreelli F , Jeru I |
| Ref : Elife , 10 : , 2021 |
| Abstract : Gautheron_2021_Elife_10_ |
| ESTHER : Gautheron_2021_Elife_10_ |
| PubMedSearch : Gautheron_2021_Elife_10_ |
| PubMedID: 34342583 |
| Gene_locus related to this paper: human-EPHX1 |
| Title : Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia - Zhu_2003_Biochim.Biophys.Acta_1638_208 |
| Author(s) : Zhu QS , Xing W , Qian B , von Dippe P , Shneider BL , Fox VL , Levy D |
| Ref : Biochimica & Biophysica Acta , 1638 :208 , 2003 |
| Abstract : Zhu_2003_Biochim.Biophys.Acta_1638_208 |
| ESTHER : Zhu_2003_Biochim.Biophys.Acta_1638_208 |
| PubMedSearch : Zhu_2003_Biochim.Biophys.Acta_1638_208 |
| PubMedID: 12878321 |
| Gene_locus related to this paper: human-EPHX1 |
| Title : Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia - Laasanen_2002_Eur.J.Hum.Genet_10_569 |
| Author(s) : Laasanen J , Romppanen EL , Hiltunen M , Helisalmi S , Mannermaa A , Punnonen K , Heinonen S |
| Ref : Eur J Hum Genet , 10 :569 , 2002 |
| Abstract : Laasanen_2002_Eur.J.Hum.Genet_10_569 |
| ESTHER : Laasanen_2002_Eur.J.Hum.Genet_10_569 |
| PubMedSearch : Laasanen_2002_Eur.J.Hum.Genet_10_569 |
| PubMedID: 12173035 |
| Gene_locus related to this paper: human-EPHX1 |