Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome
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Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomaliesMolecular complexes that direct rhodopsin transport to primary ciliaDNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary DyskinesiaWdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeletonMouse models of ciliopathies: the state of the art.A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.Disruption of a ciliary B9 protein complex causes Meckel syndromeForward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signalingMammalian Clusterin associated protein 1 is an evolutionarily conserved protein required for ciliogenesis.Genetics of auditory mechano-electrical transduction.Congenital heart disease and the specification of left-right asymmetryThe Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Carcinogens induce loss of the primary cilium in human renal proximal tubular epithelial cells independently of effects on the cell cycleThe old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical dataThe Ciliary Transition Zone: Finding the Pieces and Assembling the Gate.Ciliopathies: the trafficking connection.B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysisThe Rho GTPase Cdc42 regulates hair cell planar polarity and cellular patterning in the developing cochlea.The transition zone protein Rpgrip1l regulates proteasomal activity at the primary ciliumEvidence for SHH as a candidate gene for encephalocele.SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease.The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signalingCilia, Wnt signaling, and the cytoskeletonGenetic link between renal birth defects and congenital heart diseaseCilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish.Meckel Gruber syndrome: report of two cases with review of literature.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.The Ptch1(DL) mouse: a new model to study lambdoid craniosynostosis and basal cell nevus syndrome-associated skeletal defects.Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system developmentRole of cilia in structural birth defects: insights from ciliopathy mutant mouse models.Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes.A novel role for primary cilia in airway remodeling.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.The small GTPase RSG1 controls a final step in primary cilia initiation.Loss of liver kinase B1 causes planar polarity defects in cochlear hair cells in mice.Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease.CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.Cell type-specific regulation of ciliary transition zone assembly in vertebrates.
P2860
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P2860
Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome
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2010 nî lūn-bûn
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2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年學術文章
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name
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@ast
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@en
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@nl
type
label
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@ast
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@en
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@nl
prefLabel
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@ast
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@en
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@nl
P2093
P2860
P3181
P356
P1476
Disruption of Mks1 localizatio ...... ions in Meckel-Gruber syndrome
@en
P2093
Baolin Wang
Bethan Lemley
Bishwanath Chatterjee
Cecilia W Lo
Charisse Henry
Deanne Francis
Jovenal T SanAgustin
Richard Francis
P2860
P3181
P356
10.1242/DMM.006262
P407
P577
2010-11-02T00:00:00Z