(Q24337438)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

Prickle planar cell polarity protein 1

12 February 2020

main subject

1 reference

GOA release 2020-03-11

neural tube closure

1 reference

GOA release 2020-03-11

author

Valeria Capra

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

9

Zoha Kibar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

7

Pierre Drapeau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Ciprian M Bosoi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Redouane Allache

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Vincent Quoc-Huy Trinh

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Patrizia De Marco

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Elisa Merello

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Alexander G Bassuk

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

language of work or name

English

0 references

publication date

23 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

1371-1375

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

12 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=3217084

Mutations in the human SIX3 gene in holoprosencephaly are loss of 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=3217084

Prickle-1 negatively regulates Wnt/beta-catenin pathway by promoting Dishevelled ubiquitination/degradation in liver cancer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Mutations in VANGL1 associated with neural-tube defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Planar cell polarity signaling: from fly development to human disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Mutations in prickle orthologs cause seizures in flies, mice, and humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Contribution of VANGL2 mutations to isolated neural tube defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Genetic basis of neural tube defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Mouse prickle1, the homolog of a PCP gene, is essential for epiblast apical-basal polarity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Novel mutations in VANGL1 in neural tube defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Spinal dysraphism: MR imaging rationale.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Prickle and Strabismus form a functional complex to generate a correct axis during planar cell polarity signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Prickle 1 regulates cell movements during gastrulation and neuronal migration in zebrafish

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Zebrafish prickle, a modulator of noncanonical Wnt/Fz signaling, regulates gastrulation movements.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

The Human Gene Mutation Database: 2008 update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217084

Diego interacts with Prickle and Strabismus/Van Gogh to localize planar cell polarity complexes.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.21589

21 January 2018

Identifiers

DOI

10.1002/HUMU.21589

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901791%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference