Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome (Q24564244)

4

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Stephen Robertson

object named as

Stephen P Robertson

Andrew Oliver Mungo Wilkie

5

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object named as

Andrew O M Wilkie

8

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author name string

Rui Kan

2

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Christian Babbs

3

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Steven A Wall

6

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Gillian M Morriss-Kay

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

7

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language of work or name

English

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publication date

8 June 2004

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published in

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volume

101

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issue

23

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page(s)

8652-7

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cites work

Crystal structure of an Eph receptor-ephrin complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Crystal structure of an ephrin ectodomain

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Ephrin-B1 forward and reverse signaling are required during mouse development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Multiple roles of EPH receptors and ephrins in neural development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

The ephrin VAB-2/EFN-1 functions in neuronal signaling to regulate epidermal morphogenesis in C. elegans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Eph receptors and ephrins: effectors of morphogenesis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Eph receptors and ligands comprise two major specificity subclasses and are reciprocally compartmentalized during embryogenesis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Control of skeletal patterning by ephrinB1-EphB interactions

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Multiple roles of ephrins in morphogenesis, neuronal networking, and brain function.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Fibroblast growth factor receptor-mediated rescue of x-ephrin B1-induced cell dissociation in Xenopus embryos

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

A first-generation X-inactivation profile of the human X chromosome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

A pedigree possible evidence for the metabolic interference hypothesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Distinct and overlapping expression patterns of ligands for Eph-related receptor tyrosine kinases during mouse embryogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Delineation of the male phenotype in carniofrontonasal syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Craniofrontonasal syndrome: study of 41 patients

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402819101

Mapping of a further locus for X-linked craniofrontonasal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402819101

Tissue origins and interactions in the mammalian skull vault

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402819101

Morphogenetic movements underlying eye field formation require interactions between the FGF and ephrinB1 signaling pathways.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0402819101

Integration of FGF and TWIST in calvarial bone and suture development.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Craniofrontonasal dysplasia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Craniofrontonasal dysplasia in a three-generation kindred.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Craniofrontonasal dysplasia: clinical and genetic analysis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Craniofrontonasal dysplasia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Craniofrontonasal dysplasia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Frontonasal dysplasia with coronal craniosynostosis in three sibs

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=423250

Craniofrontonasal dysplasia: more severe expression in the mother than in her son

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15166289

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0402819101

1 reference

ADS bibcode

2004PNAS..101.8652T

0 references

1 reference

1 reference

PubMed publication ID

15166289

1 reference