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 |
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series.
|
31672438 |
2019 |
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 |
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 |
The p.Asp688His mutation is localized in the CFTR-interacting STAS domain of SLC26A3 and enriched in Finland, showing a significant association with male infertility in comparison with 6,572 Finnish (P < 0.05) and over 120,000 global alleles (P < 0.0001) (ExAC database).
|
29079751 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
21254931 |
2011 |
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 |
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 |
Male infertility
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues.
|
17823699 |
2007 |
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 |
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 |
Molecular evaluation of CFTR sequence variants in male infertility of testicular origin.
|
16128988 |
2005 |
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 |
CFTR mutations and polymorphisms in male infertility.
|
15379964 |
2004 |
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 |
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 |