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 (Q41154858)

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scientific article published on 2 January 2013

Language	Label	Description	Also known as
English	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	scientific article published on 2 January 2013

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

cilium assembly

0 references

1 reference

based on heuristic

inferred from title

Joubert syndrome

1 reference

based on heuristic

inferred from title

5

object named as

Carmel Toomes

0 references

Gabrielle Wheway

object named as

Gabrielle Wheway

2

0 references

author name string

Zakia A Abdelhamed

1

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

Katarzyna Szymanska

3

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

Subaashini Natarajan

4

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

Chris Inglehearn

6

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

Colin A Johnson

7

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

publication date

2 January 2013

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

22

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

7

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

1358-1372

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

A meckelin-filamin A interaction mediates ciliogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

The primary cilium: a signalling centre during vertebrate development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

The primary cilium at a glance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Primary cilia are not required for normal canonical Wnt signaling in the mouse embryo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

The primary cilium as a complex signaling center

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

A mouse model for Meckel syndrome type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Beta-catenin-mediated Wnt signaling regulates neurogenesis in the ventral telencephalon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Genetic basis of Joubert syndrome and related disorders of cerebellar development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Vertebrate Smoothened functions at the primary cilium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Cilia and Hedgehog responsiveness in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Regulation of flagellar assembly by glycogen synthase kinase 3 in Chlamydomonas reinhardtii

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Orpk mouse model of polycystic kidney disease reveals essential role of primary cilia in pancreatic tissue organization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Wnt proteins induce dishevelled phosphorylation via an LRP5/6- independent mechanism, irrespective of their ability to stabilize beta-catenin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Development of multiorgan pathology in the wpk rat model of polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Hedgehog signalling in the mouse requires intraflagellar transport proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

The vertebrate primary cilium is a sensory organelle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Analysis and classification of cerebellar malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Hsp90 as a capacitor of phenotypic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Hippocampus development and generation of dentate gyrus granule cells is regulated by LEF1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

A local Wnt-3a signal is required for development of the mammalian hippocampus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Characterization of mouse dishevelled (Dvl) proteins in Wnt/Wingless signaling pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Identification and characterization of a novel line of Drosophila Schneider S2 cells that respond to wingless signaling

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Meckel syndrome

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

The Frizzled CRD domain is conserved in diverse proteins including several receptor tyrosine kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

Lhx2 selector activity specifies cortical identity and suppresses hippocampal organizer fate.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

27 September 2017

What are those cilia doing in the neural tube?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

14 June 2018

Predicting mutation outcome from early stochastic variation in genetic interaction partners.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

14 June 2018

Brain pathology in the Meckel syndrome: a study of 59 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

14 June 2018

A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3596847

14 June 2018

Preparation, culture, and immortalization of mouse embryonic fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/23283079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23283079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS546

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

27 September 2017

ResearchGate publication ID

0 references

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