Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility

@article{Zuccarello2008DetailedFS,
  title={Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility},
  author={D. Zuccarello and A. Ferlin and C. Vinanzi and E. Prana and A. Garolla and L. Callewaert and F. Claessens and A. Brinkmann and C. Foresta},
  journal={Clinical Endocrinology},
  year={2008},
  volume={68}
}
Context   Mutations in the androgen receptor (AR) gene can cause the androgen insensitivity syndrome (AIS). For complete and severe partial AIS, well‐characterized in vitro functional assays can be used for genotype–phenotype correlation; however, for mild forms of AIS, as associated with male infertility, experimental evidence is scarce or lacking. In particular, optimal in vitro functional tests informative about the genotype–phenotype relation have not been described. 
View on Wiley
ncbi.nlm.nih.gov
59 Citations
Highly Influential Citations
2
Background Citations
17
Methods Citations
1
Results Citations
2

59 Citations

Citation Type

Citation Type

Androgen insensitivity syndrome: clinical features and molecular defects
  • 146
  • PDF
Screening for Mutations Causing Male Infertility in the Androgen Receptor - Gene: Identification of the del LEU57 Mutation
  • 1
  • PDF
Androgen insensitivity syndrome
  • 333
  • PDF
Mild androgen insensitivity syndrome (MAIS): the identification of c.1783C>T mutation in two unrelated infertile men
  • 2
Androgen insensitivity syndrome
  • N. Mendoza, M. A. Motos
  • Biology, Medicine
  • Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
  • 2013
  • 41
  • PDF
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China
  • 2
Androgen insensitivity syndrome: An experience of genetic analysis of a family from a tertiary center – Saudi Arabia
A novel mutation in the transactivation-regulating domain of the androgen receptor in a patient with azoospermia.
  • 17
  • Highly Influenced
Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults
  • 9
  • PDF
Androgen receptor knockout and knock-in mouse models.
  • 74
  • PDF
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 37 REFERENCES
Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations
  • 85
Significance of mutations in the androgen receptor gene in males with idiopathic infertility.
  • 145
  • PDF
Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation.
  • 55
  • PDF
Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.
  • 131
  • PDF
Oligospermic infertility associated with an androgen receptor mutation that disrupts interdomain and coactivator (TIF2) interactions.
  • 92
  • PDF
A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility*
  • 27
Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs
  • 13
Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively.
  • 25
  • PDF
Analysis of the transactivation domain of the androgen receptor in patients with male infertilitv
  • 41
A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men.
  • 25
...
1
2
3
4
...