IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. (Q36209043)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26275418%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26275418%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

1 reference

19

1 reference

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22 February 2020

Isabelle Perrault

1

1 reference

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22 February 2020

Xavier Gérard

4

1 reference

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22 February 2020

Daniela A Braun

5

1 reference

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22 February 2020

Heon Yung Gee

6

1 reference

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22 February 2020

Hanan M Fathy

7

1 reference

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22 February 2020

Sophie Saunier

8

1 reference

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22 February 2020

Valérie Cormier-Daire

9

1 reference

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22 February 2020

Sophie Thomas

10

1 reference

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22 February 2020

Tania Attié-Bitach

11

1 reference

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22 February 2020

Nathalie Boddaert

12

1 reference

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22 February 2020

Michael Taschner

13

1 reference

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22 February 2020

Esben Lorentzen

15

1 reference

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22 February 2020

Josseline Kaplan

22

1 reference

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22 February 2020

Jean-michel Rozet

23

1 reference

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22 February 2020

2

Jan Halbritter

1 reference

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22 February 2020

14

Markus Schueler

1 reference

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22 February 2020

3

Jonathan D Porath

1 reference

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22 February 2020

17

Jennifer A Lawson

1 reference

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22 February 2020

author name string

Richard P Lifton

16

1 reference

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22 February 2020

Meriem Garfa-Traore

18

1 reference

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22 February 2020

Philippe Bastin

20

1 reference

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22 February 2020

Catherine Caillaud

21

1 reference

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22 February 2020

Friedhelm Hildebrandt

24

1 reference

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22 February 2020

language of work or name

English

0 references

publication date

14 August 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26275418%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

22 February 2020

published in

1 reference

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22 February 2020

volume

52

1 reference

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22 February 2020

issue

10

1 reference

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22 February 2020

page(s)

657-665

1 reference

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describes a project that uses

22 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4621372/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Molecular basis of tubulin transport within the cilium by IFT74 and IFT81.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

GLI2 mutations as a cause of hypopituitarism.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Ciliary disorder of the skeleton

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Human limb abnormalities caused by disruption of hedgehog signaling

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Architecture and function of IFT complex proteins in ciliogenesis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

The molecular regulation of vertebrate limb patterning

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Direct interactions of intraflagellar transport complex B proteins IFT88, IFT52, and IFT46.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Characterization of mouse IFT complex B

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

A systematic approach to mapping recessive disease genes in individuals from outbred populations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Functional analysis of an individual IFT protein: IFT46 is required for transport of outer dynein arms into flagella

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

The level of sonic hedgehog signaling regulates the complexity of cerebellar foliation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Hedgehog signalling in the mouse requires intraflagellar transport proteins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Allegro, a new computer program for multipoint linkage analysis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

The nephronophthisis complex: clinical and genetic aspects

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Biochemical mapping of interactions within the intraflagellar transport (IFT) B core complex: IFT52 binds directly to four other IFT-B subunits

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Leber congenital amaurosis: from darkness to spotlight

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

Intraflagellar transport is essential for endochondral bone formation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4621372

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102838

10.1136/JMEDGENET-2014-102838

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26275418%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26275418%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26275418%20AND%20SRC:MED&resulttype=core&format=json