(Q24299173)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

0 references

1 reference

GOA release 2020-03-11

WD repeat domain 35

1 reference

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Paul J. Lockhart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Hayley S. Mountford

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Emma A Hall

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Martin A.M. Reijns

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Ian J. Jackson

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

David J Amor

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

12

Martin B Delatycki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Melanie Bahlo

8

0 references

Ravi Savarirayan

13

object named as

Ravi Savarirayan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Elizabeth Fitzpatrick

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Margaret Keighren

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Catherine J Bromhead

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Peter Budd

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Salim Aftimos

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

language of work or name

English

0 references

publication date

1 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

508-515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

NEK1 mutations cause short-rib polydactyly syndrome type majewski

27 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Structure of Coatomer Cage Proteins and the Relationship among COPI, COPII, and Clathrin Vesicle Coats

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Evolution of intraflagellar transport from coated vesicles and autogenous origin of the eukaryotic cilium.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

The intraflagellar transport machinery of Chlamydomonas reinhardtii

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Cilia and Hedgehog responsiveness in the mouse

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

The Chlamydomonas kinesin-like protein FLA10 is involved in motility associated with the flagellar membrane

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Making sense of cilia in disease: the human ciliopathies.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

The NIMA-family kinase, Nek1 affects the stability of centrosomes and ciliogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

The mammalian Nek1 kinase is involved in primary cilium formation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071922

Nosology and classification of genetic skeletal disorders: 2006 revision

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21473986

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21473986

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.03.015

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473986%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

2 references