Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
CFTR mutations and polymorphisms in male infertility.
|
15379964 |
2004 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The present study was undertaken to test the involvement of CFTR gene mutations in 14 CBAVD males and additionally in cases of male infertility caused by obstructive azoospermia (n = 10) and severe oligozoospermia (n = 3).
|
9620832 |
1998 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic.
|
28801929 |
2017 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular pathology of the CFTR locus in male infertility.
|
15705292 |
2005 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Thus in a very near future, for a comprehensive male infertility panel, it will be essential to include additional genetic tests, such as CFTR gene mutations, sperm mitochondrial DNA mutations, and androgen receptor gene mutations, besides the conventional chromosomal analyses, Y chromosome microdeletion detection, and sperm-FISH analyses.
|
18554162 |
2008 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital bilateral absence of vas deferens (CBAVD), a frequent cause of obstructive azoospermia and male infertility in Chinese, is mainly due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
31357024 |
2019 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The most frequent pathogenic causes of male infertility are Y chromosomal microdeletions and obstructive azoospermia due to congenital absence of the vas deferens (CAVD) in the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
11471192 |
2001 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.
|
31672438 |
2019 |
Male infertility
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Therefore, manipulation of the signaling components of the ADGRG2-Gq/β-arrestin-1/CFTR complex by small molecules may be an effective therapeutic strategy for male infertility.
|
29393851 |
2018 |
Male infertility
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Further studies are needed to substantiate the hypothesis that a combination of variants affecting expression and function of the CFTR protein is associated with male infertility.
|
10601093 |
1999 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
An increased frequency of (cystic fibrosis transmembrane conductance regulator) CFTR mutations has been detected in some types of male infertility.
|
21679131 |
2011 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified.
|
15239534 |
2004 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) is responsible for 2-6% of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified.
|
16714368 |
2006 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified.
|
7739684 |
1995 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
CFTR gene mutations and male infertility.
|
10755189 |
2000 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
It is well established that cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations are involved in congenital bilateral absence of the vas deferens (CBAVD), causing obstructive azoospermia and male infertility.
|
21762191 |
2012 |
Male infertility
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Congenital bilateral absence of vas deferens (CBAVD) is the most common CFTR-related disorder (CFTR-RD) that explains about 1-2% of the male infertility cases.
|
25386751 |
2014 |
Male infertility
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
CFTR is a key regulator of male fertility, a defect of which may result in different forms of male infertility other than CBAVD.
|
22709980 |
2013 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The association between variants in the CFTR gene and nonobstructive male infertility: A meta-analysis.
|
31820482 |
2020 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Couples requesting microsurgical epididymal sperm aspiration/in-vitro fertilization and those in which the man has CF should be offered CFTR mutations screening if CBAVD is the cause of the male infertility.
|
9239681 |
1996 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility.
|
18616886 |
2008 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The c.1865G>A, p.Gly622Asp (G622D), located at the NBD1 C terminus of the CFTR protein, was initially reported in patients with male infertility.
|
25443471 |
2015 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In this review, we describe basic genetic principles involved in understanding the genetic basis of male infertility and examine the utility and proper clinical use of the proven genetic assays of male factor infertility, specifically Y chromosome microdeletions, chromosomal translocations, karyotype, cystic fibrosis transmembrane conductance regulator mutation analysis and sperm genetic tests.
|
24711280 |
2014 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Therefore, we proposed to determine, in a representative unselected sample of men who were sent for microsurgical epididymal sperm aspiration, if different types of male infertility and impaired fertility were associated with CFTR gene alterations.
|
11788091 |
2001 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The abnormal CFTR genotypes in these patients with pancreatitis resemble those associated with male infertility.
|
9725922 |
1998 |