(Q37812586)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

23 August 2017

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

1 reference

Europe PubMed Central

23 August 2017

0 references

Clare Victoria Logan

1

1 reference

Europe PubMed Central

23 August 2017

author name string

Zakia Abdel-Hamed

2

1 reference

Europe PubMed Central

23 August 2017

Colin A Johnson

3

1 reference

Europe PubMed Central

23 August 2017

publication date

27 November 2010

1 reference

Europe PubMed Central

23 August 2017

Molecular Neurobiology

1 reference

Europe PubMed Central

23 August 2017

43

1 reference

Europe PubMed Central

23 August 2017

1

1 reference

Europe PubMed Central

23 August 2017

12-26

1 reference

Europe PubMed Central

23 August 2017

https://scigraph.springernature.com/pub.10.1007/s12035-010-8154-0

0 references

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Hedgehog signalling in the mouse requires intraflagellar transport proteins

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Meckel syndrome: what are the minimum diagnostic criteria?

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Meckel syndrome with polysplenia: case report and review of the literature

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Targeting proteins to the ciliary membrane.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Planar cell polarity signaling: from fly development to human disease

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Cilia and developmental signaling

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Motile cilia of human airway epithelia are chemosensory

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Nodal flow and the generation of left-right asymmetry.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Cilia multifunctional organelles at the center of vertebrate left-right asymmetry

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Understanding the functions of kinesin-II.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Intraflagellar transport

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Kinesin and dynein superfamily proteins and the mechanism of organelle transport

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Assembly of chick brain tubulin onto flagellar microtubules from Chlamydomonas and sea urchin sperm

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Temperature-sensitive mutations affecting flagellar assembly and function in Chlamydomonas reinhardtii

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

A dynein light chain is essential for the retrograde particle movement of intraflagellar transport (IFT)

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The small G proteins of the Arf family and their regulators

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The primary cilium as a cellular signaling center: lessons from disease

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The primary cilium as a complex signaling center

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Bending the MDCK cell primary cilium increases intracellular calcium

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Wnt signaling in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cells

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Polycystin-1 induces cell migration by regulating phosphatidylinositol 3-kinase-dependent cytoskeletal rearrangements and GSK3beta-dependent cell cell mechanical adhesion

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Phosphatidylinositol 3-kinase: a key regulator in adherens junction formation and function

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The Wnt signaling pathway in development and disease

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Beyond Wnt inhibition: new functions of secreted Frizzled-related proteins in development and disease

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Hedgehog and patched in neural development and disease

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Pattern formation in the vertebrate neural tube: a sonic hedgehog morphogen-regulated transcriptional network

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The primary cilium at the crossroads of mammalian hedgehog signaling

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Vertebrate Smoothened functions at the primary cilium

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Cilia and Hedgehog responsiveness in the mouse

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Dynamic association of proteasomal machinery with the centrosome

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Upstream and downstream of mTOR

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

TOR signaling in growth and metabolism

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Inhibition of mTOR with sirolimus slows disease progression in Han:SPRD rats with autosomal dominant polycystic kidney disease (ADPKD).

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

A gene for Meckel syndrome maps to chromosome 11q13.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

RhoA-mediated apical actin enrichment is required for ciliogenesis and promoted by Foxj1

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

A second canon. Functions and mechanisms of beta-catenin-independent Wnt signaling

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Drosophila Rho-associated kinase (Drok) links Frizzled-mediated planar cell polarity signaling to the actin cytoskeleton.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Wnt signaling: a common theme in animal development

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Scanning the human proteome for calmodulin-binding proteins

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

The stumpy gene is required for mammalian ciliogenesis

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

A mouse model for Meckel syndrome type 3.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Defects in brain patterning and head morphogenesis in the mouse mutant Fused toes.

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Synaptotagmin: a Ca(2+) sensor that triggers exocytosis?

1 reference

https://api.crossref.org/works/10.1007%2FS12035-010-8154-0

21 January 2018

Genetic heterogeneity in neural tube defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Focus on Molecules: Centrosomal protein 290 (CEP290)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Meckel syndrome in Finland: epidemiologic and genetic aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Meckel syndrome and the prenatal diagnosis of neural tube defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dandy-Walker malformation in the Meckel syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Etiologic Heterogeneity of Neural-Tube Defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Features described and illustrated in 1684 suggesting Meckel-Gruber syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

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/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome). A case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/21110233

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S12035-010-8154-0

1 reference

Europe PubMed Central

23 August 2017

1 reference

Europe PubMed Central

23 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37812586&oldid=1728906354"