(Q28591420)

31 January 2017

title

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

1 reference

MKS transition zone complex subunit 1

31 January 2017

main subject

1 reference

GOA release 2020-03-11

4

Carmel Toomes

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Gabrielle Wheway

object named as

Gabrielle Wheway

1

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author name string

Zakia Abdelhamed

2

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31 January 2017

Subaashini Natarajan

3

1 reference

31 January 2017

Chris Inglehearn

5

1 reference

31 January 2017

Colin A. Johnson

6

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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

published in

Developmental Biology

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31 January 2017

volume

377

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31 January 2017

issue

1

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31 January 2017

page(s)

55–66

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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

31 January 2017

cites work

1 reference

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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

7 January 2021

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

7 January 2021

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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.

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

7 January 2021

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7 January 2021

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

7 January 2021

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7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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7 January 2021

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

7 January 2021

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Survival and spectrum of anomalies in the Meckel syndrome

7 January 2021

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

7 January 2021

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Association of Meckel syndrome with M-anisosplenia in one patient

7 January 2021

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7 January 2021

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

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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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

7 January 2021

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

7 January 2021

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Restoration of renal function in zebrafish models of ciliopathies

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YDBIO.2013.02.015

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YDBIO.2013.02.015

1 reference

31 January 2017

1 reference