Genetics of primary ovarian insufficiency in the next-generation sequencing era
MM França, BB Mendonca - Journal of the Endocrine Society, 2020 - academic.oup.com
… They can be functionally classified into genes associated with … regulate several ovarian
genes, including GDF9 and BMP15. … Trp280* mutation revealed that SPIDR activity was impaired …
genes, including GDF9 and BMP15. … Trp280* mutation revealed that SPIDR activity was impaired …
Ovarian biomarkers in fertility–Serum BMP15 and GDF9 as ovarian biomarkers in polycystic ovarian syndrome and premature ovarian insufficiency
L Hechtman - 2023 - unsworks.unsw.edu.au
Public version Page 1 Ovarian biomarkers in fertility – Serum BMP15 and GDF9 as ovarian
biomarkers in polycystic ovarian syndrome and premature ovarian insufficiency Author: …
biomarkers in polycystic ovarian syndrome and premature ovarian insufficiency Author: …
Implication of Novel BMP15 and GDF9 Variants in Unexpected Poor Ovarian Response
A Mehdizadeh, M Soleimani, F Amjadi, AA Sene… - Reproductive …, 2024 - Springer
… performed to determine the expression levels of BMP15 and GDF9 in … role of BMP15 in
premature ovarian insufficiency [27, 28]. … by low and reduced expression of associated protein in …
premature ovarian insufficiency [27, 28]. … by low and reduced expression of associated protein in …
[HTML][HTML] Targeted next-generation sequencing indicates a frequent oligogenic involvement in primary ovarian insufficiency onset
R Rossetti, S Moleri, F Guizzardi, D Gentilini… - Frontiers in …, 2021 - frontiersin.org
… by proteolytic activity on specific substrates within the ovarian context have been … genes
related to meiosis, cell cycle, and DNA repair processes and patient 23 with a variant in BMP15 …
related to meiosis, cell cycle, and DNA repair processes and patient 23 with a variant in BMP15 …
[HTML][HTML] Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI
E Ferrarini, G De Marco, F Orsolini, E Gianetti… - Journal of Ovarian …, 2021 - Springer
… We identified and characterized a novel BMP15 mutation, … the ovarian cortex is the cause of
primary ovarian insufficiency in … V136L in BMP15 gene that causes a reduction in the activity …
primary ovarian insufficiency in … V136L in BMP15 gene that causes a reduction in the activity …
Genetics of primary ovarian insufficiency
… inheritance associated with mutations in the BMP15 gene. … with a gradual decline in the
reproductive activity of ovaries. … only a homozygous FIGLA mutation linked to POI, although, …
reproductive activity of ovaries. … only a homozygous FIGLA mutation linked to POI, although, …
A rare germline BMP15 missense mutation causes hereditary ovarian immature teratoma in human
Y Liu, H Fan, X Kang, Y Hao, N Wang… - Proceedings of the …, 2024 - National Acad Sciences
… region of BMP15 are able to modulate the expression and activity of … of BMP15 affecting the
proprotein and leading to reduced … have been identified in primary ovarian insufficiency (POI) …
proprotein and leading to reduced … have been identified in primary ovarian insufficiency (POI) …
New insights into the genetic basis of premature ovarian insufficiency: novel causative variants and candidate genes revealed by genomic sequencing
… of ovarian deficiency with different severity of decrease in … the expression of BMP15, likely
affecting production of BMP15 … We provide functional evidence of impaired NRIP1 activity of …
affecting production of BMP15 … We provide functional evidence of impaired NRIP1 activity of …
Recent advances in understanding primary ovarian insufficiency
W Victoria, AN Kellen, P Lubna - F1000Research, 2020 - search.proquest.com
… BMP15 (transforming growth factor-beta family). (3) GF and Kit-ligand (Kit-L) as well as (4)
740YP administration increase PI3K activity, … in expression of key Hippo signaling genes and …
740YP administration increase PI3K activity, … in expression of key Hippo signaling genes and …
Primary Ovarian Insufficiency: Current Understanding and Diagnostic Approaches.
R Priya, K Bhaskaran, A Suresh… - Journal of …, 2023 - search.ebscohost.com
… the genes linked to POI and their function in ovarian activity, … [19], while mutations in the
BMP15 gene can disrupt ovarian … regulates the expression of key reproductive genes like the …
BMP15 gene can disrupt ovarian … regulates the expression of key reproductive genes like the …