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Anti-Mullerian hormone receptor, type II
MIS type II receptor, Amhr2, MISRII, AMH type II receptor, AMHR, MISIIR
This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009] (from
Yong et al., Singapore, Singapore. In Gynecol Endocrinol, Jan 2016
The allele frequencies of the AMH Ile(49)Ser and AMHR2 -482A > G polymorphisms were analyzed in relation to female reproductive hormone levels, ovarian parameters, menstrual cycle lengths and pregnancy outcomes.
Cupp et al., Lincoln, United States. In J Endocrinol, Nov 2015
However, in vivo models using mice which selectively eliminated all VEGFA isoforms: in Sertoli and germ cells (pDmrt1-Cre;Vegfa(-/-)); Sertoli and Leydig cells (Amhr2-Cre;Vegfa(-/-)) or Sertoli cells (Amh-Cre;Vegfa(-/-) and Sry-Cre;Vegfa(-/-)) displayed testes with observably normal cords and vasculature at postnatal day 0 and onwards.
Donahoe et al., Boston, United States. In Proc Natl Acad Sci U S A, Sep 2015
Finally, we tested the frequency of MIS type II receptor expression in a tissue microarray of serous ovarian tumors by immunohistochemistry and found that 88% of patients bear tumors that express the receptor.
Zhao et al., Wuhan, China. In Am J Transl Res, 2014
Although the mRNA expression level of AMH was hardly detectable in GCs, the mRNA expression level of AMHR2 in GCs from OHSS patients was significantly lower than the AMHR2 mRNA expression level in the control population.
Zhao et al., Wuhan, China. In Int J Clin Exp Pathol, 2014
To investigate the possible relationship between single nucleotide polymorphisms (SNPs) in the anti-Müllerian hormone (AMH) signaling pathway and the incidence of early OHSS, the genomic DNA was isolated from peripheral blood leukocytes of 122 participants (62 patients with early OHSS and 60 patients without OHSS who underwent IVF/ICSI), and SNPs of the AMH and AMHR2 exons were detected directly.
Josso et al., Dhahran, Saudi Arabia. In Horm Res Paediatr, 2011
the diversity of clinical symptoms within sibship and lack of correlation between development of Mullerian derivatives and severity of molecular defects suggest highly variable penetrance of abnormal alleles