scholarly journals No Evidence of Germline Activating Mutations in the Follicle-Stimulating Hormone Receptor (FSHR) Gene in Girls with Gonadotropin-Independent Precocious Puberty

1999 ◽  
Vol 45 (3) ◽  
pp. 440-440
Author(s):  
M B F Kohek ◽  
M C Batista ◽  
E T Frazzatto ◽  
V N Brito ◽  
I J P Arnhold ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Hormone Receptor ◽  
Follicle Stimulating Hormone ◽  
Activating Mutations ◽  
Fshr Gene ◽  
Stimulating Hormone

The Structure and Organization of the Human Follicle-Stimulating Hormone Receptor (FSHR) Gene

Genomics ◽  
1996 ◽  
Vol 35 (2) ◽  
pp. 308-311 ◽  
Author(s):  
Jörg Gromoll ◽  
Elisabeth Pekel ◽  
Eberhard Nieschlag
Keyword(s):  
Hormone Receptor ◽  
Follicle Stimulating Hormone ◽  
Fshr Gene ◽  
Stimulating Hormone

Mutation analysis of the follicle-stimulating hormone receptor gene in girls with gonadotropin-independent precocious puberty resulting from autonomous cystic ovaries

2000 ◽  
Vol 73 (2) ◽  
pp. 280-283 ◽  
Author(s):  
Marcelo Cidade Batista ◽  
Maria Beatriz Fonte Kohek ◽  
Eliana Salgado Turri Frazzatto ◽  
Maria Candida Villares Fragoso ◽  
Berenice Bilharinho Mendonça ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Precocious Puberty ◽  
Hormone Receptor ◽  
Receptor Gene ◽  
Follicle Stimulating Hormone ◽  
Hormone Receptor Gene ◽  
Stimulating Hormone

Absence of follicle-stimulating hormone receptor activating mutations in women with iatrogenic ovarian hyperstimulation syndrome

2005 ◽  
Vol 83 (6) ◽  
pp. 1695-1699 ◽  
Author(s):  
Catarina Brasil d’Alva ◽  
Paulo Serafini ◽  
Eduardo Motta ◽  
Maria Beatriz da Fonte Kohek ◽  
Ana Claudia Latronico ◽  
...  
Keyword(s):  
Hormone Receptor ◽  
Ovarian Hyperstimulation Syndrome ◽  
Follicle Stimulating Hormone ◽  
Ovarian Hyperstimulation ◽  
Activating Mutations ◽  
Stimulating Hormone

scholarly journals Pharmacogenomic Biomarkers of Follicle-Stimulating Hormone Receptor Malfunction in Females with Impaired Ovarian Response—A Genetic Survey

2021 ◽  
Vol 10 (2) ◽  
pp. 170
Author(s):  
Alireza Tafazoli ◽  
Sławomir Wołczyński ◽  
Natalia Wawrusiewicz-Kurylonek ◽  
Seyed-Alireza Esmaeili ◽  
Wojciech Miltyk
Keyword(s):  
Hormone Receptor ◽  
Follicle Stimulating Hormone ◽  
Poor Response ◽  
Ovarian Response ◽  
Perspective View ◽  
Fshr Gene ◽  
Genetic Survey ◽  
Critical Overview ◽  
Actionable Variants ◽  
Stimulating Hormone

Follicle-stimulating hormone receptor (FSHR) plays an essential role as one of the most important molecules in response to some of infertility related medications. Impaired ovarian reserve and poor response to such treatments are partially dependent on the FSHR molecule itself. However, the function and drug sensitivity for this receptor may change due to various allele and polymorphisms in the FSHR gene. Studies indicated some of the FSHR-mediated treatments utilized in clinical centers display different outcomes in specific populations, which may arise from FSHR altered genotypes in certain patients. To support the increased demands for reaching the personalized drug and hormone therapy in clinics, focusing on actionable variants through Pharmacogenomic analysis of this receptor may be necessary. The current study tries to display a perspective view on genetic assessments for Pharmacogenomic profiling of the FSHR gene via providing a systematic and critical overview on the genetics of FSHR and its diverse responses to ligands for infertility treatment in females with impaired ovarian responses and show the potential effects of the patient genetic make-up on related binding substances efficacy. All identified functional drug-related alleles were selected through a comprehensive literature search and analyzed. Advanced technologies for the genetic evaluation of them are also discussed properly.

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