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CC2D2A gene

Known as: CC2D2A, KIAA1345, JBTS9 
National Institutes of Health

Related topics

Related topics

2 relations
JOUBERT SYNDROME 9 (disorder)MECKEL SYNDROME, TYPE 6 (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Retinal degeneration and protein mislocalization in MKS6 mutants
2016
2016
Clinical utility gene card for: Meckel syndrome – update 2016
1.5 Mutational spectrum Data according to published literature and HGMD database (https:// portal.biobase-international.com… 
2015
2015
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing
Results Core JS diagnostic features (hypotonia, ataxia, cognitive dysfunction, oculo-motor apraxia) were present in >80% of… 
2015
2015
C 2 domain of CC 2 D 2 A does not bind phospholipid membranes
Premature truncations in the CC2D2A gene can cause familial brain diseases including Autosomal recessive mental retardation (ARMR… 
2014
2014
Cc2d2a is utilized in assembling subdistal appendages required for ciliogenesis
2014
2014
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks
Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases… 
2012
2012
Live imaging of Rab8 trafficking defects in cc2d2a mutant zebrafish
Primary cilia provide a means of regulating and concentrating receptors and other proteins essential for transmission of sensory… 
2012
2012
Exploring the genetics of nephronophthisis and Joubert Syndrome…more than monogenic cystic renal diseases?!
Background Understanding the pathogenesis of the autosomal recessive cystic kidney disease, nephronophthisis (NPHP) remains a… 
2011
2011
A Ciliopathy Gene CC2D2a is Required For Eye Development
2009
2009
Molecular genetics of Meckel syndrome : Ciliary genes are defective in MKS
Meckel syndrome (MKS) is an autosomal recessive lethal disorder characterized by a combination of malformations. Death occurs… 
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