|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We classified the other positive diagnoses as follows: commonly mutated craniosynostosis genes with atypical presentation (<i>EFNB1</i>, <i>TWIST1</i>); other core craniosynostosis genes (<i>CDC45</i>, <i>MSX2, ZIC1</i>); genes for which mutations are only rarely associated with craniosynostosis (<i>FBN1</i>, <i>HUWE1</i>, <i>KRAS</i>, <i>STAT3</i>); and known disease genes for which a causal relationship with craniosynostosis is currently unknown (<i>AHDC1</i>, <i>NTRK2</i>).
|
27884935 |
2017 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The patient disclosed an intragenic duplication of the entire MSX2 gene whereas no mutation was identified in any major genes known to be involved in craniosynostosis.
|
24666290 |
2015 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These data confirm that missense mutations altering the proline at codon 148 of MSX2 cause dominantly inherited craniosynostosis.
|
23949913 |
2013 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Molecular analysis of MSX2 should therefore be considered in patients with isolated scaphocephaly/unicoronal synostosis, especially in the presence of a family history for craniosynostosis or syndactyly.
|
23918290 |
2013 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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
|
0.600 |
Biomarker
|
disease |
BEFREE |
Increased copies of MSX2 have been previously associated with craniosynostosis.
|
21567924 |
2011 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway.
|
21082653 |
2010 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our case further supports the role of MSX2 duplication in the etiology of craniosynostosis.
|
19533795 |
2009 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our results support the previous finding that distal 5q-trisomy together with an extra copy of the MSX2 gene leads to abnormal closure of sutures and craniosynostosis.
|
17955513 |
2007 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our study confirms that early fusion of cranial sutures commonly observed in the dup(5q) syndrome is caused by triplication of the MSX2 gene and strongly supports the crucial role of this gene in the development of craniofacial structures.
|
18000908 |
2007 |
|
Craniosynostosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The list of genes that are involved in CS includes those coding for the different fibroblast growth factor receptors and a ligand of ephrin receptors, but also genes encoding transcription factors, such as MSX2 and TWIST.
|
17686002 |
2007 |
|
Craniosynostosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Reduced dosage of Msx2 in the Twist1 mutant background restores the expression of ephrin-A4, rescues the suture boundary and inhibits craniosynostosis.
|
16540516 |
2006 |
|
Craniosynostosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
These results are consistent with the hypotheses that increased Msx2 expression and activated signaling by mutated FGF receptors lead to craniosynostosis.
|
12674336 |
2003 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in five genes (FGFR1-, -2, -3, TWIST, and MSX2) causing craniosynostosis as the main clinical feature were described.
|
12407713 |
2002 |
|
Craniosynostosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Here we use tissue-specific overexpression of Msx2 within the calvarial sutures to address the developmental mechanisms of craniosynostosis and skull morphogenesis.
|
9917362 |
1999 |
|
Craniosynostosis
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These data provide a molecular-level explanation of how the Pro148-->His mutation enhances Msx2 function and thus leads to the dominant craniosynostosis phenotype.
|
8968743 |
1996 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The identification in craniosynostosis syndromes of mutations in genes belonging to the fibroblast growth factor signalling pathway and the transcriptional regulator MSX2 provides important clues to the pathogenesis of these disorders.
|
8782984 |
1996 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
For example, the utilization of these strategies has resulted in the successful mapping of approximately 70 genes related to craniofacial anomalies (e.g., Pax, retinoic acid receptors, cadhedrins, aggrecan, cell adhesion molecules, substrate adhesion molecules, etc.), 30 genes related to dental tissue disorders (e.g., BMPs, bone morphogenetic proteins; dentin phosphoproteins, dentin sialoglycoproteins, enamelins, amelogenins), 20 genes related to facial clefting defects (e.g., Hox genes, transforming growth factor alpha), and 3 genes related to craniosynostosis (e.g., Msx-2).
|
7554921 |
1995 |
|
Craniosynostosis
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull.
|
7597092 |
1995 |
|
Craniosynostosis
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
|
8106171 |
1993 |
|
Craniosynostosis
|
0.600 |
Biomarker
|
disease |
MGD |
|
|
|