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 |
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 |
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 |
Therefore this review is focussed on a comprehensive overview of human genes known with mutations causing male infertility (AR; AZF gene families; CFTR, DM-1, DNAH gene family, FGFR1, FSHR, INSL3, KAL-1, LGR8- GREAT, LHR, POLG).
|
14965334 |
2004 |
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 |
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 |
This is the first report from the Indian population, emphasizing increased frequency of CFTR gene mutations in male infertility other than CBAVD.
|
25010724 |
2014 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
This study was conducted to explore the role of CFTR gene mutations in the occurrence of CBAVD-dependent male infertility.
|
16272798 |
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 |
Biomarker
|
phenotype |
CTD_human |
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 |