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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… 
2019
2019
The Role of Cell Growth-Related Gene Copy Number Variation in Autoimmune Thyroid Disease
Autoimmune thyroid disease (AITD) is a recurrent and refractory clinical endocrine disease. Some studies have shown that the… 
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… 
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… 
Highly Cited
2011
Highly Cited
2011
Disruption of a ciliary B9 protein complex causes Meckel syndrome.
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… 
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… 
1994
1994
Translational control mediates the developmental regulation of the Trypanosoma brucei Nrk protein kinase.
Highly Cited
1986
Highly Cited
1986
Differential mitochondrial gene expression between slender and stumpy bloodforms of Trypanosoma brucei.
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… 
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