(Q29144881)

GOA release 2020-03-11

author

Miriam Schmidts

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Julia Vodopiutz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Claudio R Cortés

4

1 reference

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4 June 2020

Richard Emes

6

1 reference

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4 June 2020

Andreas Janecke

21

1 reference

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4 June 2020

Peter J Scambler

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Matthew A. Brown

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Carol Wicking

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Emma L. Duncan

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Aideen M McInerney-Leo

5

object named as

Aideen M McInerney-Leo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Sonia Christou-Savina

3

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Beyhan Tüysüz

8

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jason D'Silva

9

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Marije Koopmans

14

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Nursel Elçioglu

16

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Alma Kuechler

17

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Detlef Bockenhauer

18

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Warren Emmet

23

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Brooke Gardiner

24

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Berthold Streubel

25

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Belinda Dopita

26

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Andreas Zankl

27

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

UK10K

33

2 references

4 April 2017

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4 June 2020

Heleen H Arts

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Paul J Leo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Tom C Giles

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Machteld M Oud

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jessica A Harris

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Mhairi Marshall

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Anthony T Moore

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Louise C Wilson

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Matthew E Hurles

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Hülya Kayserili

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Philip L Beales

31

1 reference

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4 June 2020

Hannah M Mitchison

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 June 2020

language of work or name

English

0 references

publication date

7 November 2013

1 reference

4 April 2017

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

93

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

932-944

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

5

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

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

4 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

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=3824113

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

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=3824113

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=3824113

Complex interactions between genes controlling trafficking in primary cilia

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

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=3824113

A map of human genome variation from population-scale sequencing

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

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=3824113

I-TASSER: a unified platform for automated protein structure and function prediction

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Systematic analysis of human protein complexes identifies chromosome segregation proteins

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

The Sequence Alignment/Map format and SAMtools

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

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=3824113

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

BioGRID: a general repository for interaction datasets

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Cytoplasmic dynein as a facilitator of nuclear envelope breakdown

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

The proapoptotic activity of the Bcl-2 family member Bim is regulated by interaction with the dynein motor complex

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

A framework for variation discovery and genotyping using 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=3824113

The primary cilium: a signalling centre during vertebrate development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Fast and accurate long-read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Small molecule inhibitors of Smoothened ciliary localization and ciliogenesis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

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=3824113

Gli proteins in development and disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Ciliary transition zone activation of phosphorylated Tctex-1 controls ciliary resorption, S-phase entry and fate of neural progenitors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

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=3824113

WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Retrograde intraflagellar transport by cytoplasmic dynein-2 is required for outer segment extension in vertebrate photoreceptors but not arrestin translocation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Hedgehog signal transduction by Smoothened: pharmacologic evidence for a 2-step activation process

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Assembly of primary 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=3824113

Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Intraflagellar transport is essential for endochondral bone formation.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3824113

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24183451

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.10.003

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24183451%20AND%20SRC:MED&resulttype=core&format=json