Results 251 to 260 of about 299,479 (314)

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

open access: yesClinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou   +3 more
wiley   +1 more source

Oocyte Age-Dependent DNA Damage Can Be Reverted by the DNA Repair Competent Karyoplasm of Young Oocytes. [PDF]

open access: yesAging Cell
Dudko N   +8 more
europepmc   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

open access: yesClinical Genetics, EarlyView.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li   +5 more
wiley   +1 more source

Transcription Factor TCF12‐Mediated Maternal Gene Expressions in Mouse Oocyte Are Prerequisites of Successful Fertilisation and Zygotic Genome Activation

open access: yesCell Proliferation, EarlyView.
Maternal TCF12 ensures the competence of fertilisation by controlling the expression of Astl and the proper location of cortical granules. Furthermore, maternal TCF12 maintains the phosphatase activity of PP2A by regulating the expression of Arpp19. Oocyte‐specific deletion of Tcf12 leads to fertilisation defects as well as ZGA failure at the 2‐cell ...
Lan‐Rui Cao   +7 more
wiley   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

open access: yesCell Proliferation, EarlyView.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

Dynamic microdevice culture during bovine oocyte maturation decreases lipid accumulation and improve blastocyst cell numbers. [PDF]

open access: yesSci Rep
Vit FF   +8 more
europepmc   +1 more source

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