(Q33834326)

29 July 2017

title

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

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29 July 2017

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cystic kidney disease

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Corey L Williams

1

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29 July 2017

Svetlana V Masyukova

series ordinal

2

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29 July 2017

Bradley K Yoder

series ordinal

3

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29 July 2017

publication date

11 February 2010

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Journal of the American Society of Nephrology

29 July 2017

published in

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29 July 2017

volume

21

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29 July 2017

issue

5

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29 July 2017

page(s)

782-793

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Meckel-Gruber syndrome protein MKS3 is required for endoplasmic reticulum-associated degradation of surfactant protein C

29 July 2017

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

4 July 2018

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Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

4 July 2018

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DEX-1 and DYF-7 establish sensory dendrite length by anchoring dendritic tips during cell migration

4 July 2018

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4 July 2018

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

4 July 2018

1 reference

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Distinct isoforms of the RFX transcription factor DAF-19 regulate ciliogenesis and maintenance of synaptic activity

4 July 2018

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

4 July 2018

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

4 July 2018

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

4 July 2018

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Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

4 July 2018

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

4 July 2018

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The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure

4 July 2018

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4 July 2018

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

4 July 2018

1 reference

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

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

4 July 2018

1 reference

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Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

4 July 2018

1 reference

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Functional genomics of the cilium, a sensory organelle

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

XBX-1 encodes a dynein light intermediate chain required for retrograde intraflagellar transport and cilia assembly in Caenorhabditis elegans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Lateral signaling mediated by axon contact and calcium entry regulates asymmetric odorant receptor expression in C. elegans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

A gene for Meckel syndrome maps to chromosome 11q13.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Odorant-selective genes and neurons mediate olfaction in C. elegans.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Mutations affecting the chemosensory neurons of Caenorhabditis elegans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

The genetics of Caenorhabditis elegans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Mutant sensory cilia in the nematode Caenorhabditis elegans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Efficient gene transfer in C.elegans: extrachromosomal maintenance and integration of transforming sequences

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Electron microscopical reconstruction of the anterior sensory anatomy of the nematodecaenorhabditis elegans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Analysis of xbx genes in C. elegans

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

Identification of CHE-13, a novel intraflagellar transport protein required for cilia formation

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

The RFX-type transcription factor DAF-19 regulates sensory neuron cilium formation in C. elegans

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2865747

29 October 2018

Identifiers

DOI

10.1681/ASN.2009060597

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29 July 2017

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29 July 2017

1 reference