Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome
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Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathiesBardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementEfficient disruption of Zebrafish genes using a Gal4-containing gene trapEvaluation of zebrafish kidney function using a fluorescent clearance assay.Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in miceReduced expression of SET7/9, a histone mono-methyltransferase, is associated with gastric cancer progressionWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Bardet-Biedl syndrome: Is it only cilia dysfunction?BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complexA missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.Signaling through the Primary Cilium.
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Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome
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2013 nî lūn-bûn
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2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2013 թվականի հունվարին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
@ast
Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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label
Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
@en-gb
Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
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Characterization of CCDC28B re ...... ffect on Bardet-Biedl syndrome
@en
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Florencia Irigoín
Héctor Romero
Magdalena Cardenas-Rodriguez
Philip L Beales
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P2888
P304
P3181
P356
10.1007/S00439-012-1228-5
P407
P577
2012-09-27T00:00:00Z
P5875
P6179
1006715893