scholarly journals Functional Characterization of Missense Mutations in ATP7B: Wilson Disease Mutation or Normal Variant?

1998 ◽  
Vol 63 (6) ◽  
pp. 1663-1674 ◽  
Author(s):  
John R. Forbes ◽  
Diane W. Cox
Keyword(s):  
Wilson Disease ◽  
Functional Characterization ◽  
Normal Variant ◽  
Missense Mutations ◽  
Disease Mutation

scholarly journals Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease

2018 ◽  
Vol 6 ◽  
Author(s):  
Sarah Guttmann ◽  
Friedrich Bernick ◽  
Magdalena Naorniakowska ◽  
Ulf Michgehl ◽  
Sara Reinartz Groba ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Functional Characterization

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

In vitro functional characterization of missense mutations in the LDLR gene

2012 ◽  
Vol 225 (1) ◽  
pp. 128-134 ◽  
Author(s):  
S. Silva ◽  
A.C. Alves ◽  
D. Patel ◽  
R. Malhó ◽  
A.K. Soutar ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Missense Mutations ◽  
Ldlr Gene
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