Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
CTD_human |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that mutations in EFNB1 cause CFNS.
|
15124102 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Upon clonal expansion of patient cells with either the wild-type or mutant EFNB1 on the active X-chromosome, we were able to separate mutant and wild-type EFNB1-expressing cells in vitro, further supporting the concept of cellular interference in CFNS.
|
18043713 |
2008 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The replacement of Glu125 with Lys, which lies within the G-H loop, part of the dimerization ligand-receptor interface, is expected to disrupt the interaction between the Eph receptor and ephrin B1 ligand, thus leading to craniofrontonasal syndrome.
|
21385071 |
2012 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
|
16685650 |
2006 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
|
20565770 |
2010 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
|
24281372 |
2014 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively.
|
24376213 |
2014 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS.
|
28140668 |
2018 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations in X-linked ephrin-B1 in humans cause craniofrontonasal syndrome (CFNS), a disease that affects female patients more severely than males.
|
16968134 |
2006 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the ephrin A4 (EFNA4) and ephrin B1 (EFNB1) ligands have been linked to nonsyndromic CS and craniofrontonasal syndrome, respectively, in patient samples.
|
28135115 |
2018 |
Craniofrontonasal dysplasia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS.
|
15959873 |
2005 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS.
|
15959873 |
2005 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the EFNB1 gene in Xq12 are responsible for familial and sporadic CFNS.
|
15959873 |
2005 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that the classical female CFNS phenotype is caused by heterozygous loss-of-function mutations in EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases.
|
15166289 |
2004 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a CFNS patient with a novel EFNB1 missense mutation present at the interface between EFNB1 and its receptor proteins.
|
17300690 |
2007 |
Craniofrontonasal dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here, by generating hiPSCs from CFNS patients, we demonstrate that mosaicism for EPHRIN-B1 expression induced by random X inactivation in heterozygous females results in robust cell segregation in human neuroepithelial cells, thus supplying experimental evidence that Eph/ephrin-mediated cell segregation is relevant to pathogenesis in human CFNS patients.
|
28238796 |
2017 |
Craniofrontonasal dysplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Hence, we propose that X-linked cases resembling Teebi hypertelorism may have a similar mechanism to CFNS, and that cellular mosaicism for different levels of ephrin-B1 (as well as simple presence/absence) leads to craniofacial abnormalities.
|
21542058 |
2011 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
|
16639408 |
2006 |
Craniofrontonasal dysplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
|
23335590 |
2013 |
Craniofrontonasal dysplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because the encoded protein ephrin-B1 is involved in migration of neural crest cells we propose that CFNS is a novel type of neurocrestopathy.
|
16143553 |
2006 |