Blood cell mitochondrial DNA content and premature ovarian aging

M Bonomi, E Somigliana, C Cacciatore, M Busnelli… - 2012 - journals.plos.org
Primary ovarian insufficiency (POI) is a critical fertility defect characterized by an anticipated
and silent impairment of the follicular reserve, but its pathogenesis is largely unexplained …

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects

Q Li, L Zhao, Y Zeng, Y Kuang, Y Guan, B Chen, S Xu… - Genome Biology, 2023 - Springer
Background Oocyte maturation arrest and early embryonic arrest are important reproductive
phenotypes resulting in female infertility and cause the recurrent failure of assisted …

Increased incidence of mitochondrial cytochrome c oxidase 1 gene mutations in patients with primary ovarian insufficiency

X Zhen, B Wu, J Wang, C Lu, H Gao, J Qiao - PLoS One, 2015 - journals.plos.org
Primary ovarian insufficiency (POI), also known as premature ovarian failure (POF), is
defined as more than six months of cessation of menses before the age of 40 years, with two …

Genetics of primary ovarian insufficiency: new developments and opportunities

Y Qin, X Jiao, JL Simpson… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …

Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing

R Morales, B Lledo, JA Ortiz, FM Lozano… - Journal of Assisted …, 2022 - Springer
Purpose To identify candidate variants in genes possibly associated with premature ovarian
insufficiency (POI). Methods Fourteen women, from 7 families, affected by idiopathic POI …

[PDF][PDF] Blastocyst implantation failure relates to impaired translational machinery gene expression

V Plaks, E Gershon, A Zeisel, J Jacob-Hirsch… - …, 2014 - boutiqueblu.com
Oocyte quality is a well-established determinant of embryonic fate. However, the molecular
participants and biological markers that affect and may predict adequate embryonic …

The role of mitochondria in the female germline: Implications to fertility and inheritance of mitochondrial diseases

MR Chiaratti, BM Garcia, KF Carvalho… - Cell biology …, 2018 - Wiley Online Library
Mitochondria play a fundamental role during development of the female germline. They are
fragmented, round, and small. Despite these characteristics suggesting that they are …

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 exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …

[HTML][HTML] Oocyte mitochondria: role on fertility and disease transmission

MR Chiaratti, BM Garcia, KF Carvalho… - Animal …, 2018 - ncbi.nlm.nih.gov
Oocyte mitochondria are increased in number, smaller, and rounder in appearance than
mitochondria in somatic cells. Moreover, mitochondrial numbers and activity are narrowly …

Mitochondrial DNA variations in ova and blastocyst: implications in assisted reproduction

MB Shamsi, P Govindaraj, L Chawla, N Malhotra… - Mitochondrion, 2013 - Elsevier
Mitochondrial DNA (mtDNA) of oocyte is critical for its function, embryo quality and
development. Analysis of complete mtDNA of 49 oocytes and 18 blastocysts from 67 females …