scholarly journals Functional characterization of naturally-occurring constitutively activating/inactivating mutations in equine follicle-stimulating hormone receptor (eFSHR)

2021 ◽  
Author(s):  
Munkhzaya Byambaragchaa ◽  
Tae-Young Ahn ◽  
Seung-Hee Choi ◽  
Myung-Hwa Kang ◽  
Kwan-Sik Min
Keyword(s):  
Hormone Receptor ◽  
Follicle Stimulating Hormone ◽  
Functional Characterization ◽  
Naturally Occurring ◽  
Inactivating Mutations ◽  
Stimulating Hormone

Functional Characterization of Two Naturally Occurring Mutations (Val514Ala and Ala575Val) in Follicle-Stimulating Hormone Receptor

2015 ◽  
Vol 100 (4) ◽  
pp. E638-E645 ◽  
Author(s):  
Swapna S. Desai ◽  
Swati K. Achrekar ◽  
Krupa A. Sahasrabuddhe ◽  
Parvin K. Meharji ◽  
Sadhana K. Desai ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Follicle Stimulating Hormone ◽  
Functional Characterization ◽  
Naturally Occurring ◽  
Stimulating Hormone

scholarly journals Identification and In vitro Characterization of Follicle Stimulating Hormone (FSH) Receptor Variants Associated with Abnormal Ovarian Response to FSH

2010 ◽  
Vol 24 (1) ◽  
pp. 275-276
Author(s):  
Tsilya Gerasimova ◽  
Maria N. Thanasoula ◽  
Dimitrios Zattas ◽  
Emre Seli ◽  
Denny Sakkas ◽  
...  
Keyword(s):  
Ovarian Stimulation ◽  
Follicle Stimulating Hormone ◽  
Functional Characterization ◽  
Ovarian Response ◽  
Genetic Alterations ◽  
Fsh Receptor ◽  
Intron Insertion ◽  
Stimulating Hormone

ABSTRACT Context Follicle stimulating hormone (FSH) mediates cyclic follicle growth and development and is widely used for controlled ovarian stimulation in women undergoing infertility treatment. The ovarian response of women to FSH is variable, ranging from poor response to ovarian hyperstimulation. Objective We investigated whether genetic alterations of the FSH receptor (FSHR) contribute to this variability. Design and Patients Our approach was to study women undergoing treatment with In Vitro Fertilization (IVF) falling into the edges of the normal distribution of ovarian response to FSH, with respect to age. Setting Yale Fertility Clinic. Methods We extracted RNA from cumulus cells surrounding the oocytes of women undergoing IVF and analyzed the FSHR mRNA by RT-PCR and sequencing. Results We identified four abnormal FSHR splicing products (3 exon deletions and 1 intron insertion) in the FSHR mRNA in 37% (13/35) of women tested. All alterations affected the extracellular ligand-binding portion of the receptor without causing a frameshift. When transfected in HEK293T cells, all four splicing variants showed markedly decreased cAMP activation compared to controls. Untransfected cells showed no response to FSH, while all the cell lines showed normal cAMP activation when treated with Forskolin, a non-receptor mediated cAMP stimulant. None of the normal or mutant forms showed any response to luteinizing or thyroid stimulating hormones. Conclusions Our findings strongly indicate FSHR variants as being an intrinsic genetic cause of some forms of infertility and identify a need for functional characterization of these variants and the investigation of more individualized ovarian stimulation protocols.

Biological characterization of the naturally occurring analogues of intrapituitary human follicle-stimulating hormone

1992 ◽  
Vol 7 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Alfredo Ulloa-Aguirre ◽  
Aidee Cravioto ◽  
Pablo Damián-Matsumura ◽  
Manuel Jiménez ◽  
Elena Zambrano ◽  
...  
Keyword(s):  
Follicle Stimulating Hormone ◽  
Biological Characterization ◽  
Naturally Occurring ◽  
Stimulating Hormone
Sign in / Sign up

Export Citation Format

Share Document