(Q28507717)

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus (English)

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

Intraflagellar transport 88

3 February 2020

main subject

hydrocephalus

0 references

1 reference

GLI-Kruppel family member GLI2

GOA release 2020-03-11

1 reference

Intraflagellar transport 172

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Kathryn V. Anderson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Yan Chen

6

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Joshua M Friedland-Little

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Andrew D Hoffmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Polloneal Jymmiel R Ocbina

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Mike A Peterson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Joshua D Bosman

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Steven Y Cheng

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

Ivan P Moskowitz

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

publication date

8 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

published in

Human Molecular Genetics

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

volume

20

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

issue

19

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

page(s)

3725-3737

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Vertebrate Smoothened functions at the primary 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=3168284

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=3168284

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=3168284

Hedgehog signalling in the mouse requires intraflagellar transport proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Sonic hedgehog regulates proliferation and differentiation of mesenchymal cells in the mouse metanephric kidney

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Pallister-Hall syndrome phenotype in mice mutant for Gli3

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Anorectal malformations caused by defects in sonic hedgehog signaling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Hedgehog signals regulate multiple aspects of gastrointestinal development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Sonic hedgehog is essential to foregut development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Altered neural cell fates and medulloblastoma in mouse patched mutants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

A population study of the VACTERL association: evidence for its etiologic heterogeneity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Patched1 regulates hedgehog signaling at the primary 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=3168284

Genome-wide identification of mouse congenital heart disease loci

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Making sense of cilia in disease: the human ciliopathies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Selective translocation of intracellular Smoothened to the primary cilium in response to Hedgehog pathway modulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Intraflagellar transport and cilium-based signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Purmorphamine activates the Hedgehog pathway by targeting Smoothened.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

An incredible decade for the primary cilium: a look at a once-forgotten organelle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

The VACTERL association: lessons from the Sonic hedgehog pathway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

VACTERL with hydrocephalus: family with X-linked VACTERL-H.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Multigenic control of the localization of the zone of polarizing activity in limb morphogenesis in the mouse.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

A Syndrome of Multiple Congenital Anomalies Associated With Teratogenic Exposure

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

sonic hedgehog is required in pulmonary endoderm for atrial septation

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR241

Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR241

Chlamydomonas IFT172 is encoded by FLA11, interacts with CrEB1, and regulates IFT at the flagellar tip.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR241

Mouse Ripply2 is downstream of Wnt3a and is dynamically expressed during somitogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR241

Extending the scope of the VATER association: definition of the VATER syndrome

21 January 2018

2 references

https://api.crossref.org/works/10.1093%2FHMG%2FDDR241

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3168284

Identification of a HOXD13 mutation in a VACTERL patient

27 November 2018

1 reference

12 December 2020

1 reference

12 December 2020

Birth defects and oral contraceptives

1 reference

12 December 2020

VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDR241

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21653639%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

2 references