Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
CTD_human |
Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
|
12973667 |
2003 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH.
|
14508707 |
2003 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
|
12973667 |
2003 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix.
|
12973667 |
2003 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH.
|
14508707 |
2003 |
Hyalinosis, Systemic
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH.
|
14508707 |
2003 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
CTD_human |
We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH.
|
14508707 |
2003 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF).
|
15725249 |
2005 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF).
|
15725249 |
2005 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recently, the causative gene for JHF, capillary morphogenesis protein 2 (CMG2) was identified.
|
16104968 |
2005 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.
|
17284973 |
2007 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Systemic hyalinosis is an autosomal recessive disease that encompasses two allelic syndromes, infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF), which are caused by mutations in the CMG2 gene.
|
19191226 |
2009 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1G→T on exon 14 in anthrax toxin receptor 2 gene.
|
22042284 |
2011 |
Hyalinosis, Systemic
|
0.800 |
Biomarker
|
disease |
BEFREE |
Finally, we show that mutant CMG2 can be rescued in fibroblasts of some patients by treatment with proteasome inhibitors and that CMG2 is then properly transported to the plasma membrane and signalling competent, identifying the ER folding and degradation pathway components as promising drug targets for HFS.
|
21328543 |
2011 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
|
22383261 |
2012 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Finally, we will describe HFS and the consequences of HFS-associated mutations in CMG2 at the molecular and cellular level.
|
22215446 |
2012 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ANTXR2 gene can also cause juvenile hyaline fibromatosis (JHF).
|
22300424 |
2012 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2, a gene involved in extracellular matrix homeostasis.
|
23554269 |
2013 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Infantile systemic hyalinosis: a case report with a novel mutation.
|
23386947 |
2013 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.
|
25754064 |
2015 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, the authors present a case of systemic hyalinosis with a heterozygous mutation in CMG2 that resulted in improved survival.
|
26885603 |
2016 |
Hyalinosis, Systemic
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Hyalinosis, Systemic
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted.
|
28103792 |
2017 |