2Xi JH, Bai F, Gross J, et al. Mechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49Cmutation in alpha A-crystallin enhances protein insolubility and cell death [ J ]. J Biol Chem, 2008,283 ( 9 ) : 5801-5814.
3Nishio H, Kuwahara M, Tsubone H, et al. Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model [ J ]. Int J Legal Med,2009,123 (3) :253-257.
4Ferone G, Thomason HA, Antonini D, et al. Mutant p63 causes defective expansion of ectodermal progenitor ceils and impaired FGF signalling in AEC syndrome[J]. EMBO Mol Med ,2012,4(3) : 192-205.
5Yang B, Zhao D, Verkman AS. Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation [ J ]. FASEB J, 2009,23 ( 2 ) : 503-512.
6Fingerle-Rowson G,Kaleswarapu DR, Schlander C, et al. A tautomerase-null macrophage migration-inhibitory factor (MIF) gene knock-in mouse model reveals that protein interactions and not enzymatic activity mediate MIF-dependent growth regulation [ J ]. Mol Cell Biol, 2009,29 ( 7 ) : 1922 - 1932.
7Poitelon Y, Kozlov S, Devaux J, et al. Behavioral and mo- lecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C) [ J ]. Neuromolecular Med, 2012,14 ( 1 ) : 40-52.
8Jun AS, Meng H, Ramanan N, et al. An alpha 2 collagen V~ transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis [ J ]. Hum Mol Genet, 2012,21 (2) :384-393.
10Wu F, Mi W, Bums DK, et al. A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis [ J ]. J Clin Invest, 2011,121 (10) :4082- 4094.
二级参考文献22
1Scherer PE,William S,Fogliano M,et al.A novel protein similar to C1q,produced exclusively in adipocytes.J Biol Chem,1995,270(50):26746~26749
2Maeda K,Okubo K,Shimomura I,et al.cDNA cloning and expression of a novel specific collagen-like factor,apM1 (Adipose Most abundant Transcript 1).Biochem Biophys Res Commun,1996,221 (2):286~289
3Nakano Y,Tobe T,Choi-Miura N H,et al.Isolation and characterization of GBP28,a novel Gelatin-binding protein purified from human plasma.J Biochem(Tokyo),1996,120 (4):803~812
4Pajvani U B,Hawkins M,Combs T P,et al.Complex distribution,not absolute amount of adiponectin,correlates with thiazolidinedione-mediated improvement in insulin sensitivity.J Biol Chem,2004,279 (13):12152~12162
5Arita Y,Kihara S,Ouchi N,et al.Paradoxical decrease of an adipose-specific protein,adiponectin,in obesity.Biochem Biophys Res Commun,1999,257 (1):79~83
6Hotta K,Funahashi T,Bodkin N L,et al.Circulating concentrations of the adipocyte protein adiponectin are decreased in parallel with reduced insulin sensitivity during the progression to type 2 diabetes in rhesus monkeys.Diabetes,2001,50 (5):1126~ 1133
7Yamauchi T,Kamon J,Minokoshi Y,et al.Adiponectin stimulates glucose utilization and fatty-acid oxidation by activating AMP-activated protein kinase.Nat Med,2002,8 (11):1288~ 1295
8Ma K,Cabrero A,Saha P K,et al.Increased beta -oxidation but no insulin resistance or glucose intolerance in mice lacking adiponectin.J Biol Chem,2002,277 (38):34658~34661
9Fasshauer M,Klein J,Neumann S,et al.Hormonal regulation of adiponectin gene expression in 3T3-L1 adipocytes.Biochem Biophys Res Commun,2002,290 (3):1084~1089
10Halleux C M,Takahashi M,Delporte M L,et al.Secretion of adiponectin and regulation of apM1 gene expression in human visceral adipose tissue.Biochem Biophys Res Commun,2001,288(5):1102~1107