(Q28585667)

22 June 2017

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome (English)

1 reference

Bardet-Biedl syndrome 4 (human)

22 June 2017

1 reference

McKusick-Kaufman syndrome

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Hirschsprung's disease

1 reference

based on heuristic

inferred from title

Bardet-Biedl syndrome

1 reference

14

0 references

Jiong Yan

Jiong Yan

6

0 references

James Briscoe

James Briscoe

10

0 references

Roberto Mayor

Roberto Mayor

12

0 references

James R. Lupski

14

James R Lupski

1 reference

22 June 2017

11

Masazumi Tada

1 reference

22 June 2017

Matt Di Franco

2

1 reference

22 June 2017

Erica Eichers

3

1 reference

22 June 2017

Helen May-Simera

4

1 reference

22 June 2017

Monica Garcia

5

1 reference

22 June 2017

Robyn Quinlan

7

1 reference

22 June 2017

Peter Hammond

15

1 reference

22 June 2017

Jonathan L Tobin

1

1 reference

22 June 2017

Monica J Justice

8

1 reference

22 June 2017

Raoul C Hennekam

9

1 reference

22 June 2017

Alan J Burns

13

1 reference

22 June 2017

Philip L Beales

16

1 reference

22 June 2017

language of work or name

English

0 references

publication date

28 April 2008

1 reference

Proceedings of the National Academy of Sciences of the United States of America

22 June 2017

6

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

22 June 2017

105

1 reference

22 June 2017

6714-6719

1 reference

22 June 2017

18

1 reference

Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects

22 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

It's all in your head: new insights into craniofacial development and deformation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

GTF2IRD1 in craniofacial development of humans and mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Vertebrate Smoothened functions at the primary cilium

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Cilia and Hedgehog responsiveness in the mouse

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Anorectal malformations caused by defects in sonic hedgehog signaling

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Hedgehog signals regulate multiple aspects of gastrointestinal development

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Homeobox gene Nkx2.2 and specification of neuronal identity by graded Sonic hedgehog signalling

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Altered neural cell fates and medulloblastoma in mouse patched mutants

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Bardet-Biedl syndrome: beyond the cilium.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Advances in ontogeny of the enteric nervous system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Discriminating power of localized three-dimensional facial morphology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Hirschsprung disease, associated syndromes, and genetics: a review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Xwnt11 is a target of Xenopus Brachyury: regulation of gastrulation movements via Dishevelled, but not through the canonical Wnt 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=2373327

Analysing human developmental abnormalities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2373327

Does Bardet-Biedl syndrome have a characteristic face?

3 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0707057105

Hedgehog signaling is required for cranial neural crest morphogenesis and chondrogenesis at the midline in the zebrafish skull.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0707057105

Essential role of non-canonical Wnt signalling in neural crest migration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0707057105

Fetal alcohol exposure impairs Hedgehog cholesterol modification and signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0707057105

Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0707057105

21 January 2018

Identifiers

DOI

10.1073/PNAS.0707057105

1 reference

OpenCitations bibliographic resource ID

22 June 2017

0 references

1355986

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference