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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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Meckel syndrome: Clinical and mutation profile in six fetuses
Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective… Expand
Highly Cited
2015
Highly Cited
2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive… Expand
2014
2014
Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks
BackgroundCilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes… Expand
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Highly Cited
2011
Highly Cited
2011
Disruption of a ciliary B9 protein complex causes Meckel syndrome.
Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause… Expand
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Highly Cited
2009
Highly Cited
2009
A surface transporter family conveys the trypanosome differentiation signal
Microbial pathogens use environmental cues to trigger the developmental events needed to infect mammalian hosts or transmit to… Expand
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Highly Cited
2009
Highly Cited
2009
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins
Meckel syndrome (MKS) is a ciliopathy characterized by encephalocele, cystic renal disease, liver fibrosis and polydactyly. An… Expand
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Highly Cited
2008
Highly Cited
2008
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and Joubert syndrome (JBTS) are a group of heterogeneous cystic kidney… Expand
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1994
1994
Translational control mediates the developmental regulation of the Trypanosoma brucei Nrk protein kinase.
The expression and function of eukaryotic protein kinases is highly regulated, primarily through transcriptional and post… Expand
Highly Cited
1986
Highly Cited
1986
Differential mitochondrial gene expression between slender and stumpy bloodforms of Trypanosoma brucei.
Bloodforms of Trypanosoma brucei lack complete cytochrome and Krebs cycle systems but a fully functional mitochondrial… Expand
1974
1974
Quantitative ultrastructural differences between strains of the Tryponasoma brucei subgroup during transformation in blood.
SYNOPSIS. Differences in the relative and absolute cell organization between strains of the Trypanosoma brucei subgroup were… Expand
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