(Q34571334)

3 August 2017

Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients (English)

1 reference

3 August 2017

Berta Luzón-Toro

1

1 reference

3 August 2017

Raquel M Fernández

2

1 reference

3 August 2017

Ana Torroglosa

3

1 reference

3 August 2017

Juan Carlos de Agustín

4

1 reference

3 August 2017

Cristina Méndez-Vidal

5

1 reference

3 August 2017

Dolores Isabel Segura

6

1 reference

3 August 2017

Guillermo Antiñolo

7

1 reference

3 August 2017

Salud Borrego

8

1 reference

3 August 2017

language of work or name

English

0 references

publication date

23 January 2013

1 reference

3 August 2017

1 reference

3 August 2017

8

1 reference

3 August 2017

1

1 reference

3 August 2017

e54800

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

start time

23 January 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

gdnf activates midline repulsion by Semaphorin3B via NCAM during commissural axon guidance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Class 3 semaphorins as a therapeutic target

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

NRP1 and NRP2 cooperate to regulate gangliogenesis, axon guidance and target innervation in the sympathetic nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Semaphorin3A/neuropilin-1 signaling acts as a molecular switch regulating neural crest migration during cornea development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

The many faces of semaphorins: from development to pathology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Hirschsprung disease, associated syndromes and genetics: a review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Plexin-a4 mediates axon-repulsive activities of both secreted and transmembrane semaphorins and plays roles in nerve fiber guidance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Segregation at three loci explains familial and population risk in Hirschsprung disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Disruption of semaphorin III/D gene causes severe abnormality in peripheral nerve projection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Semaphorin signaling guides cranial neural crest cell migration in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Semaphorin 3d promotes cell proliferation and neural crest cell development downstream of TCF in the zebrafish hindbrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Collapsin-1/semaphorin D is a repellent for chick ganglion of Remak axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Phenotypes of neural-crest-derived cells in vagal and sacral pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Cell proliferation drives neural crest cell invasion of the intestine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Dynamics of neural crest-derived cell migration in the embryonic mouse gut.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

A sensory axon repellent secreted from ventral spinal cord explants is neutralized by antibodies raised against collapsin-1.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3553056

Mutations in the NRG1 gene are associated with Hirschsprung disease

27 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Mapping of a Hirschsprung's disease locus in 3p21

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0054800

Effects of different regions of the developing gut on the migration of enteric neural crest-derived cells: A role for Sema3A, but not Sema3F

21 January 2018

1 reference

12 December 2020

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease

1 reference

12 December 2020

Semaphorin 3A expression in the colon of Hirschsprung disease

1 reference

12 December 2020

SEMA3A rs7804122 polymorphism is associated with Hirschsprung disease in the Northeastern region of China

1 reference

12 December 2020

The pattern of neural crest advance in the cecum and colon

1 reference

12 December 2020

Behavior of enteric neural crest-derived cells varies with respect to the migratory wavefront

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0054800

Identifiers

DOI

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference