| 1 |
A missense mutation of Leu74Pro of OGR1 found in familial amelogenesis imperfecta actually causes the loss of the pH-sensing mechanism
Sato K, Mogi C, Mighell AJ, Okajima F
Biochemical and Biophysical Research Communications, 526(4), 920, 2020 |
| 2 |
EAAT1 variants associated with glaucoma
Yanagisawa M, Namekata K, Aida T, Katou S, Takeda T, Harada T, Fuse N, Tanaka K
Biochemical and Biophysical Research Communications, 529(4), 943, 2020 |
| 3 |
A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor
Dewald G
Biochemical and Biophysical Research Communications, 498(1), 193, 2018 |
| 4 |
Collagen Gly missense mutations: Effect of residue identity on collagen structure and integrin binding
Qiu YM, Mekkat A, Yu HT, Yigit S, Hamaia S, Farndale RW, Kaplan DL, Lin YS, Brodsky B
Journal of Structural Biology, 203(3), 255, 2018 |
| 5 |
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 |
| 6 |
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance
Kumar A, Bhandari A, Sarde SJ, Muppavarapu S, Tandon R
Biochemical and Biophysical Research Communications, 462(4), 301, 2015 |
| 7 |
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 |
| 8 |
Folding and activity of mutant cystathionine beta-synthase depends on the position and nature of the purification tag: Characterization of the R266K CBS mutant
Majtan T, Kraus JP
Protein Expression and Purification, 82(2), 317, 2012 |
| 9 |
Evaluation of channel function after alteration of amino acid residues at the pore center of KCNQ1 channel
Ikrar T, Hanawa H, Watanabe H, Aizawa Y, Ramadan MM, Chinushi M, Horie M, Aizawa Y
Biochemical and Biophysical Research Communications, 378(3), 589, 2009 |
| 10 |
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 |
