CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2.
|
23949913 |
2013 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2.
|
23949913 |
2013 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
|
23918290 |
2013 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2.
|
23949913 |
2013 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis revealed a missense mutation in the MSX2-associated with the Boston-type craniosynostosis syndrome-affecting the same amino-acid residue as in the original Boston family.
|
23918290 |
2013 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
|
23918290 |
2013 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
|
23918290 |
2013 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation.
|
18786927 |
2008 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An extra copy of the MSX2 gene, which maps within the duplicated segment and is mutated in Boston-type craniosynostosis, was confirmed by molecular cytogenetic studies.
|
18000908 |
2007 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human homeobox-containing gene, Msx2, have been shown to cause Boston type craniosynostosis, and we have shown that overexpression of Msx2 leads to craniosynostosis in mice.
|
12674336 |
2003 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
|
14571277 |
2003 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
By contrast,Saethre-Chotzen syndrome and craniosynostosis (Boston-type) arise from mutations in the Twist and muscle segment homeobox 2 (MSX2) transcription factors, respectively.
|
14987407 |
2003 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It has previously been shown that a missense mutation of Msx2 (P148H) causes Boston-type craniosynostosis in humans.
|
11683913 |
2001 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.
|
10767351 |
2000 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
We found previously that a single amino acid substitution in the homeodomain of the human MSX2 gene is associated with the autosomal dominant disorder craniosynostosis, Boston type.
|
9917362 |
1999 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the homeotic gene MSX2 was the first genetic defect identified in an autosomal dominant primary craniosynostosis, i.e. in craniosynostosis type 2 (Boston type).
|
9342602 |
1997 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MSX2 is a homeodomain transcription factor that has been implicated in craniofacial morphogenesis on the basis of its expression pattern during mouse development and the finding of a missense mutation (P148H) in humans affected with Boston-type craniosynostosis.
|
9147639 |
1997 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences.
|
8968743 |
1996 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
|
8106171 |
1993 |
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CRANIOSYNOSTOSIS, TYPE 2
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|