|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Commercially available POC tests (POC-CCA® and Urine CCA (Schisto) ECO Teste®) were evaluated to evidence their potential in low endemicity areas.
|
31194970 |
2019 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
|
30675029 |
2019 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
|
29907982 |
2018 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this study, we quantitatively analyzed 15 biliary bile acids in CCA (n = 30), BBD (n = 57) and PC (n = 17) patients and discovered glycocholic acid (GCA) and taurochenodeoxycholic acid (TCDCA) as specific CCA biomarkers.
|
30038332 |
2018 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Then, the novel microfluidic system, which featured 1) a cell capture module, 2) an immunofluorescence (IF) staining module featuring two CCA-specific biomarkers, and 3) an optical detection module for visualization of antibody probes bound to these CCA marker proteins, was used to detect bile duct cancer cells within partially purified bile samples.
|
28652576 |
2017 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
In silico analyzes of 19 to 25-nt tRFs derived from 5' (tRF-5s) and 3'CCA (tRF-3s) tRNA loops in these three evolutionary distant species showed that they are conserved and their abundance did not correlate with the number of genomic copies of the parental tRNAs.
|
27681945 |
2017 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
|
27196565 |
2016 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue.
|
27196565 |
2016 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Altered microRNA (miRNA) expression plays a role in cholangiocarcinoma (CCA) development; thus, detection of blood-circulating miRNAs could be useful as CCA markers.
|
27658773 |
2016 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study extended causative mutation spectrum of FBN2 gene in CCA patients.
|
27912749 |
2016 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Although CCA patients have been believed to have favorable prognoses, repetitive aortic imaging studies must be performed in some patients to detect possible aortic disease early, and genetic testing of FBN2 might be useful to identify such high-risk patients.
|
25975422 |
2015 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
|
25834781 |
2015 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This finding indicates that elevated levels of miR-192 may be involved in CCA genesis and have a potential utility as a noninvasive prognostic indicator for CCA patients.
|
25131257 |
2014 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The first case was diagnosed as having Beals syndrome on physical examination shortly after birth and the diagnosis was confirmed by DNA analysis, shown as a point mutation in the fibrillin 2 (FBN2) gene.
|
24585410 |
2014 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An in-house PCR array containing 176 putative CCA marker genes was tested with the training set tissues of 20 CCA and 10 HCC cases.
|
24586698 |
2014 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrillinopathies include Marfan syndrome, familial ectopia lentis, familial thoracic aneurysm (mutations of FBN1) and congenital contractural arachnodactyly (mutation of FBN2).
|
22921888 |
2012 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
|
20799338 |
2010 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutational analysis of the FBN1 and FBN2 genes excluded Marfan syndrome and congenital contractural arachnodactyly.
|
20560960 |
2010 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
MGD |
ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.
|
20161761 |
2010 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
|
20799338 |
2010 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
MGD |
Mutations in fibrillin-1 or fibrillin-2, the major structural components of extracellular microfibrils, cause pleiotropic manifestations in Marfan syndrome and congenital contractural arachnodactyly, respectively.
|
20729550 |
2010 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
|
18767143 |
2009 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.
|
19473076 |
2009 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
|
19006240 |
2009 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Their physiological importance is underscored by the complex spectrum of clinical manifestations associated with mutations of fibrillin-1 and fibrillin-2 in Marfan syndrome (MFS) and congenital contractural arachnodactyly, respectively.
|
17708531 |
2007 |