BACKGROUND Infertility and pregnancy loss are longstanding problems. Successful
fertilization and high-quality embryos are prerequisites for an ongoing pregnancy. Studies …

Over the past half a century many countries have witnessed a rapid fall in total fertility rates,
particularly in the world's most advanced economies including the industrial powerhouses of …

Oocyte maturation is vital to attain full competence required for fertilization and
embryogenesis. NLRP14 is preferentially expressed in mammalian oocytes and early …

With the development of next-generation sequencing technology, de novo variants (DNVs)
with deleterious effects can be identified and investigated for their effects on birth defects …

REC114, and KHDC3L [1, 2], can lead to oocyte maturation arrest, zygote arrest, early
embryonic arrest, or the three arrested phenotype spectrum in different patients, resulting in …

Background Congenital myopathies are a clinical, histopathological and genetic
heterogeneous group of inherited muscle disorders that are defined on peculiar architectural …

Oocyte maturation defects are major phenotypes resulting in female infertility. Although
many genetic factors have been found to be responsible for these phenotypes, the …