scholarly journals Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients

2011 ◽  
pp. 91-97 ◽  
Author(s):  
Manuel Méndez ◽  
Barbara X. Granata ◽  
María J. Morán Jiménez ◽  
Victoria E. Parera ◽  
Alcira Batlle ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Missense Mutations ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

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

scholarly journals Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Tharu M. Fernando ◽  
Robert Piskol ◽  
Russell Bainer ◽  
Ethan S. Sokol ◽  
Sally E. Trabucco ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Functional Characterization ◽  
Large Sample Size ◽  
Helicase Domain ◽  
Missense Mutations ◽  
Attractive Therapeutic Target ◽  
Genomic Studies ◽  
Domain Functional ◽  
Tumor Types

Abstract Genomic studies performed in cancer patients and tumor-derived cell lines have identified a high frequency of alterations in components of the mammalian switch/sucrose non-fermentable (mSWI/SNF or BAF) chromatin remodeling complex, including its core catalytic subunit, SMARCA4. Cells exhibiting loss of SMARCA4 rely on its paralog, SMARCA2, making SMARCA2 an attractive therapeutic target. Here we report the genomic profiling of solid tumors from 131,668 cancer patients, identifying 9434 patients with one or more SMARCA4 gene alterations. Homozygous SMARCA4 mutations were highly prevalent in certain tumor types, notably non-small cell lung cancer (NSCLC), and associated with reduced survival. The large sample size revealed previously uncharacterized hotspot missense mutations within the SMARCA4 helicase domain. Functional characterization of these mutations demonstrated markedly reduced remodeling activity. Surprisingly, a few SMARCA4 missense variants partially or fully rescued paralog dependency, underscoring that careful selection criteria must be employed to identify patients with inactivating, homozygous SMARCA4 missense mutations who may benefit from SMARCA2-targeted therapy.

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