scholarly journals Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis

2005 ◽  
Vol 33 (2) ◽  
pp. 597-604 ◽  
Author(s):  
H. Bai
Keyword(s):  
Functional Characterization ◽  
Binding Domain ◽  
Missense Mutations

scholarly journals Identification and functional characterization of methyl-CpG binding domain protein from Tribolium castaneum

Genomics ◽  
2020 ◽  
Vol 112 (3) ◽  
pp. 2223-2232 ◽  
Author(s):  
Xiaowen Song ◽  
Yuemei Zhang ◽  
Qisheng Zhong ◽  
Keming Zhan ◽  
Jingxiu Bi ◽  
...  
Keyword(s):  
Tribolium Castaneum ◽  
Functional Characterization ◽  
Binding Domain ◽  
Domain Protein

Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations

2005 ◽  
Vol 26 (1) ◽  
pp. 20-28 ◽  
Author(s):  
Karim Chikh ◽  
Céline Rodriguez ◽  
Sébastien Vey ◽  
Marie T. Vanier ◽  
Gilles Millat
Keyword(s):  
Functional Characterization ◽  
Subcellular Location ◽  
Missense Mutations ◽  
Naturally Occurring ◽  
Type C ◽  
Niemann Pick

scholarly journals Functional characterization of MCAK/Kif2C cancer mutations using high-throughput microscopic analysis

2020 ◽  
Vol 31 (7) ◽  
pp. 580-588 ◽  
Author(s):  
Mike Wagenbach ◽  
Juan Jesus Vicente ◽  
Yulia Ovechkina ◽  
Sarah Domnitz ◽  
Linda Wordeman
Keyword(s):  
High Throughput ◽  
Karyotype Evolution ◽  
Functional Characterization ◽  
Microscopic Analysis ◽  
Missense Mutations ◽  
Cancer Mutations

MCAK/Kif2C is a microtubule-depolymerizing kinesin. Its activity can be rapidly quantified in fluorescently labeled cells using Cell Profiler. This method was used to interrogate MCAK/Kif2C missense mutations catalogued in the cBioPortal database. A majority of the mutations tested are deleterious and likely to increase karyotype evolution in cancer.

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2

2010 ◽  
Vol 23 (3) ◽  
pp. 365-374 ◽  
Author(s):  
Norihiko Ohbayashi ◽  
Setareh Mamishi ◽  
Koutaro Ishibashi ◽  
Yuto Maruta ◽  
Babak Pourakbari ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Syndrome Type ◽  
Missense Mutations ◽  
Griscelli Syndrome

scholarly journals Biochemical, Biophysical, and Functional Characterization of Bacterially Expressed and Refolded Receptor Binding Domain ofPlasmodium vivaxDuffy-binding Protein

2001 ◽  
Vol 276 (20) ◽  
pp. 17111-17116 ◽  
Author(s):  
Sanjay Singh ◽  
Kailash Pandey ◽  
Rana Chattopadhayay ◽  
Syed Shams Yazdani ◽  
Andrew Lynn ◽  
...  
Keyword(s):  
Receptor Binding ◽  
Binding Protein ◽  
Functional Characterization ◽  
Binding Domain ◽  
Receptor Binding Domain
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