|
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 |
GeneticVariation
|
disease |
BEFREE |
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
|
10797416 |
2000 |
|
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 |
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 |
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 |
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 |
These include mutations in the fibrillin 1 gene in the Marfan syndrome, and genetic linkage of congenital contractural arachnodactyly to fibrillin 2, and, most recently, demonstration of abnormalities in the Menkes syndrome gene in X-linked cutis laxa.
|
7963685 |
1994 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study provides final proof of the association between FBN2 mutations and CCA pathology, thus establishing the role of the fibrillin-2 in extracellular matrix physiology and pathology.
|
7493032 |
1995 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Congenital contractural arachnodactyly (Beals syndrome).
|
16740166 |
2006 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
|
11754102 |
2002 |
|
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 |
Congenital contractural arachnodactyly (Beals syndrome).
|
7815423 |
1994 |
|
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 |
BEFREE |
Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene.
|
12383326 |
2002 |
|
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 |
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 |
The gene for fibrillin-2 (FBN2) is highly homologous to FBN1, and mutations in FBN2 have been shown to cause a phenotypically related disorder termed congenital contractural arachnodactyly.
|
10633129 |
2000 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The second is a homozygous missense mutation in codon 222 [CCA (Pro) --> ACT (Thr) = P222T] in the gene identified from a female neonate with salt-wasting disorder.
|
12050213 |
2002 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The evidence includes the identification of fibrillin 2, a microfibrillar component structurally related to fibrillin 1; the differential pattern of gene expression of the two fibrillin; and the association of fibrillin 2 mutations with congenital contractural arachnodactyly.
|
8791520 |
1996 |
|
Congenital contractural arachnodactyly
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cases 27, 44, and 84 had two silent mutations from GAC (Asp) to GAT (Asp) at codon 82, and from CCA (Pro) to CCT (Pro) at codon 132.
|
14719121 |
2004 |
|
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 |
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 |
Our study extended causative mutation spectrum of FBN2 gene in CCA patients.
|
27912749 |
2016 |
|
Congenital contractural arachnodactyly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrillin-1 mutations result in the pleiotropic manifestations of Marfan syndrome, and fibrillin-2 alterations cause the overlapping phenotype of congenital contractural arachnodactyly.
|
10216958 |
1999 |
|
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 |