Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency
R Rossetti, I Ferrari, I Bestetti, S Moleri… - … mutation, 2020 - Wiley Online Library
… eventually abolish the MMP activity, we treated HEK293T cells expressing wt or BMP15 p.R329C …
R329C change we observed a severe reduction of luciferase reporter activation with …
R329C change we observed a severe reduction of luciferase reporter activation with …
BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency
L Renault, LC Patiño, F Magnin… - The Journal of …, 2020 - academic.oup.com
… (a factor closely related to BMP15) is highly expressed in the … activity and the transcription of
Id1 and Smad7 target genes. … of-function mutation linked to acromesomelic chondrodysplasia…
Id1 and Smad7 target genes. … of-function mutation linked to acromesomelic chondrodysplasia…
The role of BMP15 and GDF9 in the pathogenesis of primary ovarian insufficiency
M Liu, K Zhang, T Xu - Human Fertility, 2021 - Taylor & Francis
… deleterious effects, such as reduced GCs growth, mature … activity and dominant negative
effect on wild type action, as the … -coding genes (TSH, LH, and FSH), co-expression with BMP15 …
effect on wild type action, as the … -coding genes (TSH, LH, and FSH), co-expression with BMP15 …
Selected genetic factors associated with primary ovarian insufficiency
M Chen, H Jiang, C Zhang - International Journal of Molecular Sciences, 2023 - mdpi.com
… regulating physical activities by controlling various target genes. … decreased expression
levels of other genes associated with … Moreover, homozygous BMP15 mutations are also …
levels of other genes associated with … Moreover, homozygous BMP15 mutations are also …
Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency
F Afkhami, S Shahbazi, L Farzadi, S Danaei - Reproductive Biology and …, 2022 - Springer
… They evaluated the expression and activity of 10 BMP15 variants and showed that these
nucleotide changes could reduce mature peptide production, activity or synergy with GDF9 [26]. …
nucleotide changes could reduce mature peptide production, activity or synergy with GDF9 [26]. …
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency
MM Franca, MFA Funari, AM Lerario, MG Santos… - PLoS …, 2020 - journals.plos.org
… The majority of these defects were found in autosomal genes related to oogenesis and … [31]
have shown by expressing DAZL with recombinant human GDF9 and BMP15 that embryonic …
have shown by expressing DAZL with recombinant human GDF9 and BMP15 that embryonic …
[HTML][HTML] Recent advances in understanding primary ovarian insufficiency
V Wesevich, AN Kellen, L Pal - F1000Research, 2020 - ncbi.nlm.nih.gov
… ), bone morphogenetic protein 15 (BMP15), and growth … (4) 740YP administration increase
PI3K activity, whereas PTEN … resulted in expression of key Hippo signaling genes and an …
PI3K activity, whereas PTEN … resulted in expression of key Hippo signaling genes and an …
Genetics of ovarian insufficiency and defects of folliculogenesis
MM França, BB Mendonca - … practice & research Clinical endocrinology & …, 2022 - Elsevier
… Primary ovarian insufficiency (POI) is determined by … We identified 107 genes related to POI
etiology in mammals … A collective mouse model of several genes expressed in ovarian germ …
etiology in mammals … A collective mouse model of several genes expressed in ovarian germ …
Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency
T Zhang, Q Ma, Q Shen, C Jiang, F Zou, Y Shen… - … and Genetics, 2022 - Springer
… predicted damage function and 32 mutations linked to the POI … of mutations on BMP15
expression, we transfected BMP15 … in POI patients, caused a reduction in the activity of the mature …
expression, we transfected BMP15 … in POI patients, caused a reduction in the activity of the mature …
Next generation sequencing should be proposed to every woman with “idiopathic” primary ovarian insufficiency
S Eskenazi, A Bachelot, J Hugon-Rodin… - Journal of the …, 2021 - academic.oup.com
… (POI) is defined as a loss of ovarian activity before the age of … in the coding exons and
abutting splice sites of BMP15 (… modulate the expression of certain genes involved in POI. …
abutting splice sites of BMP15 (… modulate the expression of certain genes involved in POI. …