CHITAYAT SYNDROME
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene.
|
30569521 |
2019 |
CHITAYAT SYNDROME
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
|
27738187 |
2017 |
CHITAYAT SYNDROME
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
|
26097063 |
2015 |
CHITAYAT SYNDROME
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CHITAYAT SYNDROME
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
CRANIOSYNOSTOSIS 4
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ERF gene, coding for ETS2 repressor factor, a member of the ETS family of transcription factors cause a recently recognized syndromic form of craniosynostosis (CRS4) with facial dysmorphism, Chiari-1 malformation, speech and language delay, and learning difficulties and/or behavioral problems.
|
30758909 |
2019 |
CRANIOSYNOSTOSIS 4
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
|
26097063 |
2015 |
CRANIOSYNOSTOSIS 4
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
CRANIOSYNOSTOSIS 4
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
CRANIOSYNOSTOSIS 4
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CRANIOSYNOSTOSIS 4
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Scaphycephaly
|
0.500 |
Biomarker
|
disease |
CTD_human |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
Scaphycephaly
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
Craniosynostosis
|
0.440 |
Biomarker
|
disease |
BEFREE |
These cell lines provide good materials to understand the roles of ERF in development, trophoblast differentiation and craniosynostosis for further studies.
|
31743839 |
2019 |
Craniosynostosis
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Here, we present findings from 16 unrelated probands with ERF-related craniosynostosis, with additional data from 20 family members sharing the mutations.
|
30758909 |
2019 |
Craniosynostosis
|
0.440 |
Biomarker
|
disease |
BEFREE |
<i>Erf</i> haploinsufficiency causes craniosynostosis in humans and mice, while its absence in mice leads to failed chorioallantoic fusion and death at embryonic day 10.5 (E10.5).
|
28694332 |
2017 |
Craniosynostosis
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
In order to determine the contribution of ERF mutations to genetically undiagnosed patients with craniosynostosis, we sequenced the coding regions of ERF in 40 patients with multi-suture or sagittal suture synostosis.
|
26097063 |
2015 |
Craniosynostosis
|
0.440 |
Biomarker
|
disease |
CTD_human |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
Craniosynostosis
|
0.440 |
Biomarker
|
disease |
HPO |
|
|
|
Craniosynostosis, Type 1
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
|
28808027 |
2017 |
Arnold Chiari Malformation
|
0.400 |
Biomarker
|
disease |
CTD_human |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
Acrocephaly
|
0.400 |
Biomarker
|
disease |
CTD_human |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
Brachycephaly
|
0.400 |
Biomarker
|
disease |
CTD_human |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
Synostotic Posterior Plagiocephaly
|
0.400 |
Biomarker
|
disease |
CTD_human |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |
Craniosynostosis, Type 1
|
0.400 |
Biomarker
|
disease |
CTD_human |
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
|
23354439 |
2013 |