검색결과 : 9건
| No. | Article |
|---|---|
| 1 |
A missense methionine mutation augments catalytic activity but reduces thermal stability in two protein tyrosine phosphatases Bishop AC Biochemical and Biophysical Research Communications, 481(1-2), 153, 2016 |
| 2 |
Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics Kucukkal TG, Yang Y, Chapman SC, Cao WG, Alexov E International Journal of Molecular Sciences, 15(6), 9670, 2014 |
| 3 |
Clustering of disease-causing mutations on the domain-domain interfaces of ABCC6 Fulop K, Barna L, Symmons O, Zavodszky P, Varadi A Biochemical and Biophysical Research Communications, 379(3), 706, 2009 |
| 4 |
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve Mohamed SA, Aherrahrou Z, Liptau H, Erasmi AW, Hagemann C, Wrobel S, Borzym K, Schunkert H, Sievers HH, Erdmann J Biochemical and Biophysical Research Communications, 345(4), 1460, 2006 |
| 5 |
Identification and characterization of two mature isoforms of retinoschisin in murine retina Vijayasarathy C, Gawinowicz MA, Zeng Y, Takada Y, Bush RA, Sieving PA Biochemical and Biophysical Research Communications, 349(1), 99, 2006 |
| 6 |
Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients Abe Y, Sakurai T, Yamada T, Nakamura T, Yanagisawa M, Goto K Biochemical and Biophysical Research Communications, 275(2), 524, 2000 |
| 7 |
Presenilin-1 Is Required for Notch1 Dii1 Expression in the Paraxial Mesoderm Wong PC, Zheng H, Chen H, Becher MW, Sirinathsinghji DJ, Trumbauer ME, Chen HY, Price DL, Vanderploeg LH, Sisodia SS Nature, 387(6630), 288, 1997 |
| 8 |
Increased Amyloid-Beta-42(43) in Brains of Mice Expressing Mutant Presenilin-1 Duff K, Eckman C, Zehr C, Yu X, Prada CM, Pereztur J, Hutton M, Buee L, Harigaya Y, Yager D, Morgan D, Gordon MN, Holcomb L, Refolo L, Zenk B, Hardy J, Younkin S Nature, 383(6602), 710, 1996 |
| 9 |
Participation of Presenilin-2 in Apoptosis - Enhanced Basal Activity Conferred by an Alzheimer Mutation Wolozin B, Iwasaki K, Vito P, Ganjei JK, Lacana E, Sunderland T, Zhao BY, Kusiak JW, Wasco V, Dadamio L Science, 274(5293), 1710, 1996 |