B9D2 gene

Known as: B9 DOMAIN-CONTAINING PROTEIN 2, B9D2, MKS1-RELATED PROTEIN 2 
This gene plays a role in cilia formation.
National Institutes of Health

Topic mentions per year

Topic mentions per year

2008-2014
0120082014

Papers overview

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2015
2015
BACKGROUND Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive… (More)
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2015
2015
Results Core JS diagnostic features (hypotonia, ataxia, cognitive dysfunction, oculo-motor apraxia) were present in >80% of… (More)
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2014
2014
Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases… (More)
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2011
2011
Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause… (More)
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2008
2008
Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and Joubert syndrome (JBTS) are a group of heterogeneous cystic kidney… (More)
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