Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome (Q28591420)

GOA release 2020-03-11

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Carmel Toomes

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Gabrielle Wheway

object named as

Gabrielle Wheway

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author name string

Zakia Abdelhamed

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31 January 2017

Subaashini Natarajan

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31 January 2017

Chris Inglehearn

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31 January 2017

Colin A. Johnson

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

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31 January 2017

language of work or name

English

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publication date

1 May 2013

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31 January 2017

Developmental Biology

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31 January 2017

377

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31 January 2017

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31 January 2017

55–66

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31 January 2017

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Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

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A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome

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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

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Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.

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Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

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Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

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Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

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The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

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Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

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The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

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Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies

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Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly"

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Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

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The tetratricopeptide repeat containing Tg737 gene is a liver neoplasia tumor suppressor gene

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Do cilia put brakes on the cell cycle?

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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

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MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

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Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

7 January 2021

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Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

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Survival and spectrum of anomalies in the Meckel syndrome

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All along the watchtower: is the cilium a tumor suppressor organelle?

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Association of Meckel syndrome with M-anisosplenia in one patient

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The Meckel Syndrome. Pathological and cytogenetic observations in eight cases

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Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

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Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

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Bending the MDCK cell primary cilium increases intracellular calcium

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Visceral anomalies in the Meckel syndrome

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The Meckel syndrome: clinicopathological findings in 67 patients

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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

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The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

7 January 2021

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Dandy-Walker malformation in the Meckel syndrome

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Rapamycin markedly slows disease progression in a rat model of polycystic kidney disease

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Restoration of renal function in zebrafish models of ciliopathies

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Ftm is a novel basal body protein of cilia involved in Shh signalling

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A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

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Kinetics of hedgehog-dependent full-length Gli3 accumulation in primary cilia and subsequent degradation

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Wnt proteins are lipid-modified and can act as stem cell growth factors

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Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis

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Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

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Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks

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