Results 201 to 210 of about 157,342 (355)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

open access: yesClinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot   +13 more
wiley   +1 more source

Decoding the Molecular Landscape of Prepubertal Oocyte Maturation: GTPBP4 as a Key Driver of In Vitro Developmental Competence

open access: yesCell Proliferation, EarlyView.
Transcriptional and translational characteristics during goat oocyte maturation and identification of key factors, including GTPBP4, for prepubertal goat oocyte maturation. ABSTRACT The intricate mechanisms driving oocyte maturation remain only partially understood, especially within the domains of domestic animal reproduction and translational ...
Jianpeng Qin   +21 more
wiley   +1 more source

Eliminating separase inhibition reveals absence of robust cohesin protection in oocyte metaphase II. [PDF]

open access: yesEMBO J
El Jailani S   +7 more
europepmc   +1 more source

YKT6 Is Essential for Male Fertility by Promoting Meiosis Progression During Spermatogenesis of Mice

open access: yesCell Proliferation, EarlyView.
Specifically ablating Ykt6 in pre‐meiotic germ cells and meiotic spermatocytes leads to complete sterility and meiotic arrest in conditional knockout male mice. YTK6 is required for stabilising intercellular bridges between spermatocytes due to its key role in maintaining protein homeostasis and vesicular transport‐dependent functions in spermatocytes,
Jie Cen   +8 more
wiley   +1 more source

Phosphoproteomic identification of Mos-MAPK targets in meiotic cell cycle and asymmetric oocyte divisions. [PDF]

open access: yesJ Cell Biol
Avilov I   +9 more
europepmc   +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

AOP Report: Decreased ALDH1A (RALDH) activity leading to decreased fertility via disrupted meiotic initiation of fetal oogonia. [PDF]

open access: yesCurr Res Toxicol
Draskau MK   +7 more
europepmc   +1 more source

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