|
Congenital bilateral aplasia of vas deferens
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
CFTR protein expression was studied by immunohistochemistry in paraffin sections of testicular biopsies of six infertile men: Sertoli cell only syndrome, maturation arrest, secondary obstructive azoospermia, primary obstructive azoospermia due to congenital bilateral absence of the vas deferens (CBAVD), severe oligozoospermia, and retrograde ejaculation.
|
22989055 |
2013 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.
|
23276700 |
2013 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted to investigate the role of mutations in the CFTR gene in CBAVD-dependent male infertility.
|
22483971 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens.
|
22148899 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.
|
22842702 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigate ΔF508 mutation and IVS8-polyT polymorphism in CFTR gene in Tunisian infertile men without CBAVD.
|
21762191 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population.
|
22103471 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The overall frequency of CFTR mutations in CBAVD and the odds ratio (OR) for common specific alleles were pooled under random-effect or fixed-effect model as appropriate.
|
22081250 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia.
|
22340520 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CBAVD has been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and consequently, genetic counselling has to be addressed before beginning ICSI procedure.
|
22390181 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the vas deferens seems to be one of the tissues most susceptible to a reduction in the normal CFTR transcripts levels, and as two mild mutations are sufficient to induce CBAVD phenotype, these findings raise the possibility that these uncommon variants may be a novel cause of CBAVD.
|
20972246 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The common CFTR gene mutations were tested on blood samples from 53 infertile men with non-CAVD obstructive azoospermia and 50 normal men as control individuals.
|
21976147 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
According to present knowledge, congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis and disseminated bronchiectasis, all with CFTR dysfunction, are CFTR-RDs.
|
21658649 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, common CFTR haplotypes modulate ICP and CBAVD susceptibility alone and in heterozygous CFTR and p.Asn34Ser mutation carriers.
|
21520337 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.
|
21254931 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Among them, 26 patients (5 having CF, 10 CBAVD (congenital bilateral absence of the vas deferens) and 11 with CF-like symptoms) and 14 healthy subjects were compound heterozygous for a second CFTR mutation.
|
20717170 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The identification of mutations in both CFTR alleles in CBAVD patients is a crucial requirement for calculating the risk of producing a child with full-blown CF if the female partner is a healthy CF carrier.
|
20657600 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
|
20059485 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Second, expression of the 621+3 A>G variant in HeLa cells using a hybrid minigene showed that 39.5+/-1.1% of transcripts were correctly spliced, indicating that its effects on mRNA splicing are similar to those of the CFTR intron 8 5T variant, associated with congenital bilateral absence of vas deferens (CBAVD), but not with CF.
|
19893581 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations.
|
20100616 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.
|
20100616 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The association between CBAVD and mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles is well demonstrated in Caucasians, but the identity of CBAVD-susceptibility genes remains elusive in Asians.
|
19095672 |
2009 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
19298730 |
2009 |