Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Androgen receptor gene mutations are associated with male infertility in Northeast China: Clinical features and identification of two novel mutations.
|
30411392 |
2019 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Microdeletions within the azoospermia factor (AZF) region of the Y chromosome and the expansion of the CAG trinucleotides in the androgen receptor (AR) gene are among the susceptible causes of male infertility in different ethnic groups.
|
29441603 |
2018 |
Male infertility
|
0.400 |
AlteredExpression
|
phenotype |
BEFREE |
The animal model for male infertility with high aromatase activity showed reduced numbers of AR-immunoreactive testicular peritubular cells, suggesting that altered androgen and/or oestrogen levels could influence AR-mediated responses in peritubular cells.
|
29869453 |
2018 |
Male infertility
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
Androgen receptor (<i>AR</i>)-CAG trinucleotide repeat length and idiopathic male infertility: a case-control trial and a meta-analysis.
|
30713477 |
2018 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Long stretches of tandem repeats of AR gene may negatively affect the function of the gene and consequently lead to male infertility.
|
30156032 |
2018 |
Male infertility
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
The androgen receptor (AR) plays a crucial role in normal physiology, development and metabolism as well as in the aetiology and treatment of diverse pathologies such as androgen insensitivity syndromes (AIS), male infertility and prostate cancer (PCa).
|
28165461 |
2017 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Impact of CAG repeat length in the androgen receptor gene on male infertility - a meta-analysis.
|
27157932 |
2016 |
Male infertility
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
Increased AR-CAG repeat length was also associated with azoospermia.This meta-analysis supports that increased androgen receptor CAG length is capable of causing male infertility susceptibility.
|
26962784 |
2016 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Different mutations in AIS generally cause variable phenotypes that range from a complete hormone resistance to a mild form usually associated with male infertility.
|
25401426 |
2014 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Our results validate the concept that long stretches of CAG repeat may be associated with lower AR function with derangement of sperm production, and this may contribute to male infertility in Egyptian men.
|
21486420 |
2012 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
The CAG repeat in the androgen receptor (AR) has been widely studied in association with male infertility, but the results are conflicting.
|
20579136 |
2011 |
Male infertility
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Transcriptional profiling of luteinizing hormone receptor-deficient mice before and after testosterone treatment provides insight into the hormonal control of postnatal testicular development and Leydig cell differentiation.
|
20164437 |
2010 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Our objective was to evaluate a possible association between male infertility and mutations in the androgen receptor gene based on the presence or absence of exons 1 and 4 of this gene.
|
20198568 |
2010 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
The androgen receptor (AR) is a protein encoded by the AR gene, which when mutated may affect spermatogenesis, the process in which spermatozoa are produced; thus, AR mutations could lead to male infertility.
|
19937586 |
2009 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
It is generally accepted that defects in the AR gene prevent the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia.
|
18694860 |
2008 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
For example, among endocrine-related-diseases, the PolyGln size has been proposed to be associated to prostate cancer susceptibility, hirsutism, male infertility, cryptorchidism (in conjunction with polyglycine stretches polymorphism), etc.; the molecular mechanisms of these alterations are thought to involve a modulation of AR transcriptional competence, which inversely correlates with the PolyGln length.
|
17945479 |
2008 |
Male infertility
|
0.400 |
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
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
To this aim, we selected four AR missense mutations associated with isolated male infertility (L547F and two novel mutations A474V and S650G) or partial AIS (Y571H).
|
17970778 |
2008 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, our results implicated the AR-HAP4 gene haplotype in increased risk for male infertility, while no association was found between AR CAG/GGN microsatellites and impaired spermatogenesis.
|
17651405 |
2008 |
Male infertility
|
0.400 |
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
|
0.400 |
Biomarker
|
phenotype |
BEFREE |
Our goals were to summarize published data on associations between AR CAG and GGC repeat lengths and male infertility and investigate sources of variation between study results.
|
17684052 |
2007 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
The aim of his study was to analyse the prevalence of AR gene mutations in male infertility and to clarify the genotype-phenotype relation.
|
17054461 |
2006 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
LHGDN |
The aim of his study was to analyse the prevalence of AR gene mutations in male infertility and to clarify the genotype-phenotype relation.
|
17054461 |
2006 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
Longer CAG repeats present in exon 1 of the AR have been studied as a possible risk factor for male infertility.
|
15705293 |
2005 |
Male infertility
|
0.400 |
GeneticVariation
|
phenotype |
BEFREE |
While the correlation between the CAG repeat length of the androgen receptor (AR) gene and idiopathic male infertility is still unclear, ethnic background of the population studied may play an important role in this association.
|
15888966 |
2005 |