Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.
|
9305991 |
1997 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the 5T allele was performed on 148 subjects (29 with CF, 61 with atypical CF, and 58 with CBAVD) carrying 232 chromosomes with unidentified CFTR mutations, and on 142 non-CF chromosomes from healthy subjects of Ashkenazi origin.
|
9196095 |
1997 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.
|
9150843 |
1997 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One patient with CBAVD and a single Delta F508 CFTR mutation also had left renal agenesis.
|
9363704 |
1997 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For couples in which the man has congenital bilateral absence of the vas deferens and the female partner tests negative for standard CFTR gene mutations including 5T analysis, the maximum risk of having a child with congenital bilateral absence of the vas deferens is less than 1.0%.
|
9334604 |
1997 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
|
9067761 |
1997 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The analysis of the poly-T tract is assuming increasing relevance, both to assess the implication of the CFTR gene in congenital bilateral absence of the vas deferens and to evaluate genotype-phenotype correlation in cystic fibrosis.
|
9590360 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To identify such factors, we report here the genetic analysis of a polymorphic locus, M470V, located in exon 10 of the CFTR gene in 60 patients with CBAVD, compared to a normal control population.
|
9678705 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
|
9435322 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
|
9521595 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
|
10651488 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
|
9736778 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.
|
10200050 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Six DNA segments containing PFs were scanned for mutations by denaturing gradient gel electrophoresis (DGGE) in patients with CF (n = 29), congenital bilateral absence of the vas deferens (n = 143), or disseminated bronchiectasis (n = 33), for whom only one or no mutations had been identified despite extensive DGGE analysis of the 27 CFTR exons and exon/intron boundaries.
|
9507393 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.
|
10651488 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent findings of CFTR gene mutations in healthy men with congenital bilateral absence of the vas deferens or poor sperm quality may indicate that CFTR gene mutations have a far-reaching effect on human reproduction.
|
9542966 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The data indicate that while there is a strong association between male infertility caused by CBAVD and mutations in the CFTR gene, cases of obstructive azoospermia without CBAVD also seem to be associated with CFTR gene mutations.
|
9620832 |
1998 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype.
|
10386624 |
1999 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The routine panel did not identify 33 (46%) of 72, 2 (50%) of 4, and 19 (79%) of 24 detectable CFTR mutations and IVS8-5T in the CBAVD, CUAVD, and idiopathic epididymal obstruction groups, respectively.
|
10376575 |
1999 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our observation suggests that the CFTR gene is not involved in either spermatogenesis or in the pathology of the genital tract, except for CAVD.
|
10341008 |
1999 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CFTR mutations or the IVS-5T variant were found neither in the remaining four patients with associated renal abnormalities nor in the spouses of the 20 CBAVD patients.
|
10050655 |
1999 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also investigated a cohort of 800 French men with congenital bilateral absence of the vas deferens (CBAVD) and identified a total of 137 different CFTR mutations.
|
10923036 |
2000 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.
|
10762539 |
2000 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In monosymptomatic forms of cystic fibrosis such as congenital bilateral absence of vas deferens, variations in the TG(m) and T(n) polymorphic repeats at the 3' end of intron 8 of the cystic fibrosis transmembrane regulator (CFTR) gene are associated with the alternative splicing of exon 9, which results in a nonfunctional CFTR protein.
|
10766763 |
2000 |
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital absence of the vas deferens (CAVD) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (CFTR) gene.
|
10875853 |
2000 |