scholarly journals A mutation (R826W) in nucleotide‐binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes

EMBO Reports ◽  
2008 ◽  
Vol 9 (7) ◽  
pp. 648-654 ◽  
Author(s):  
Heidi de Wet ◽  
Peter Proks ◽  
Mathilde Lafond ◽  
Jussi Aittoniemi ◽  
Mark S P Sansom ◽  
...  
Keyword(s):  
Atpase Activity ◽  
Neonatal Diabetes ◽  
Nucleotide Binding ◽  
Binding Domain ◽  
Nucleotide Binding Domain ◽  
Transient Neonatal Diabetes ◽  
Nucleotide Binding Domain 1

scholarly journals Non-Coding Polymorphisms in Nucleotide Binding Domain 1 in ABCC1 Gene Associate with Transcript Level and Survival of Patients with Breast Cancer

PLoS ONE ◽  
2014 ◽  
Vol 9 (7) ◽  
pp. e101740 ◽  
Author(s):  
Tereza Kunická ◽  
Radka Václavíková ◽  
Viktor Hlaváč ◽  
David Vrána ◽  
Václav Pecha ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Transcript Level ◽  
Nucleotide Binding ◽  
Binding Domain ◽  
Nucleotide Binding Domain ◽  
Nucleotide Binding Domain 1

Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9

2020 ◽  
Vol 62 (10) ◽  
pp. 1206-1208
Author(s):  
Takayuki Yokoi ◽  
Yumi Enomoto ◽  
Yoshinori Tsurusaki ◽  
Takuya Naruto ◽  
Kenji Kurosawa
Keyword(s):  
Nucleotide Binding ◽  
Binding Domain ◽  
Pathogenic Variant ◽  
Nucleotide Binding Domain ◽  
Nucleotide Binding Domain 1

scholarly journals Structural stability of purified human CFTR is systematically improved by mutations in nucleotide binding domain 1

2018 ◽  
Vol 1860 (5) ◽  
pp. 1193-1204 ◽  
Author(s):  
Zhengrong Yang ◽  
Ellen Hildebrandt ◽  
Fan Jiang ◽  
Andrei A. Aleksandrov ◽  
Netaly Khazanov ◽  
...  
Keyword(s):  
Structural Stability ◽  
Nucleotide Binding ◽  
Binding Domain ◽  
Nucleotide Binding Domain ◽  
Nucleotide Binding Domain 1
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