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CCDC88C gene

Known as: CCDC88C, COILED-COIL DOMAIN-CONTAINING PROTEIN 88C, KIAA1509 
National Institutes of Health

Related topics

Related topics

7 relations
Action TremorAtaxia, SpinocerebellarAutosomal dominant inheritanceDysarthria

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
When Heterotrimeric G Proteins Are Not Activated by G Protein-Coupled Receptors: Structural Insights and Evolutionary Conservation.
Heterotrimeric G proteins are signal-transducing switches conserved across eukaryotes. In humans, they work as critical mediators… 
2016
2016
Prognostic Impact of Modulators of G proteins in Circulating Tumor Cells from Patients with Metastatic Colorectal Cancer
The consequence of a loss of balance between G-protein activation and deactivation in cancers has been interrogated by studying… 
Highly Cited
2015
Highly Cited
2015
Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling
Wnt signaling is essential for tissue homeostasis and its dysregulation causes cancer. Wnt ligands trigger signaling by… 
Highly Cited
2014
Highly Cited
2014
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
Background Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders… 
Highly Cited
2012
Highly Cited
2012
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
Background Human congenital non-syndromic hydrocephalus is a vastly heterogeneous condition. A subgroup of cases are not… 
Highly Cited
2010
Highly Cited
2010
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum
The etiology of non-syndromic hydrocephalus is poorly understood. Via positional cloning in a consanguineous family with… 
Review
2006
Review
2006
Girdin, a Novel Actin‐Binding Protein, and Its Family of Proteins Possess Versatile Functions in the Akt and Wnt Signaling Pathways
Abstract:  Girdin (GIRDers of actIN filament, also reported as APE, GIV, or HkRP1) is a novel protein expressed ubiquitously in… 
Highly Cited
2005
Highly Cited
2005
Identification and Characterization of GIV, a Novel Gαi/s -interacting Protein Found on COPI, Endoplasmic Reticulum-Golgi Transport Vesicles*
In this report, we characterize GIV (Gα-interacting vesicle-associated protein), a novel protein that binds members of the Gαi… 
Highly Cited
2005
Highly Cited
2005
KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32)
We report the cloning of a novel PDGFRB fusion gene partner in a patient with a chronic myeloproliferative disorder characterized… 
Highly Cited
2003
Highly Cited
2003
Identification and characterization of a novel Dvl‐binding protein that suppresses Wnt signalling pathway
Background:   Dvl is a cytoplasmic protein to regulate the stability of β‐catenin in the Wnt signalling pathway. However, the… 
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