IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome (Q29147558)

4 April 2017

title

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome (English)

1 reference

Intraflagellar transport 52

4 April 2017

0 references

1 reference

short rib – polydactyly syndrome

GOA release 2020-03-11

0 references

1 reference

4

Ralph S. Lachman

1 reference

4 April 2017

5

Deborah A. Nickerson

1 reference

4 April 2017

Wenjuan Zhang

1

1 reference

4 April 2017

S. Paige Taylor

2

1 reference

4 April 2017

Lisette Nevarez

3

1 reference

4 April 2017

Michael Bamshad

6

1 reference

4 April 2017

University of Washington Center for Mendelian Genomics Consortium

7

1 reference

4 April 2017

Deborah Krakow

8

1 reference

4 April 2017

Daniel H. Cohn

9

1 reference

4 April 2017

publication date

15 September 2016

1 reference

4 April 2017

published in

Human Molecular Genetics

1 reference

4 April 2017

volume

25

1 reference

4 April 2017

issue

18

1 reference

4 April 2017

page(s)

4012–4020

1 reference

Analysis of protein-coding genetic variation in 60,706 humans

4 April 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

NIH Image to ImageJ: 25 years of image analysis

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Architecture and function of IFT complex proteins in ciliogenesis

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Ciliogenesis: building the cell's antenna

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

NEK1 mutations cause short-rib polydactyly syndrome type majewski

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Mechanism of transport of IFT particles in C. elegans cilia by the concerted action of kinesin-II and OSM-3 motors

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

The Ciliopathies: An Emerging Class of Human Genetic Disorders

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

A Hidden Markov Model approach to variation among sites in rate of evolution

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Mutant sensory cilia in the nematode Caenorhabditis elegans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Dissecting the sequential assembly and localization of intraflagellar transport particle complex B in Chlamydomonas

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Ciliary disorder of the skeleton

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Ciliopathies: an expanding disease spectrum

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

GIFT domains: linking eukaryotic intraflagellar transport and glycosylation to bacterial gliding

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5291235

Analysis of protein-coding genetic variation in 60,706 humans

3 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW241

Crystal structures of IFT70/52 and IFT52/46 provide insight into intraflagellar transport B core complex assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW241

Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW241

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW241

A new gene, EVC2, is mutated in Ellis-van Creveld syndrome

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27466190

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

release_wq6u5vnivrdjdn5ftfdxzc5o3y

4 April 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wq6u5vnivrdjdn5ftfdxzc5o3y

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

5291235

0 references

1 reference