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
Rapid gain and loss of a chromosome drives key morphology and virulence phenotypes in the fungal pathogen Histoplasma. [PDF]
Heater S +4 more
europepmc +1 more source
Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci
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
Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]
Cai L, Jiang Y, Zhang N, Chen X.
europepmc +1 more source
This systematic review identified three studies comparing education, health, social, and self‐care outcomes among adolescents with Down syndrome who attended either mainstream or special secondary school. Two studies reported improved education outcomes among adolescents in mainstream secondary school.
Julia Shumway +4 more
wiley +1 more source
Recurrent Duplication, Testis-Biased Expression, and Functional Diversification of <i>Esf2/ABT1</i> Family Genes in <i>Drosophila</i>. [PDF]
Davydova ED +4 more
europepmc +1 more source
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman +10 more
wiley +1 more source
A chromosome-level genome of Astilbe chinensis unveils the evolution of a terpene biosynthetic gene cluster. [PDF]
Chen F +12 more
europepmc +1 more source
Epilepsy in dentatorubral–pallidoluysian atrophy: A systematic review and meta‐analysis
Summary of key clinical and electrophysiological characteristics of DRPLA‐related epilepsy from a systematic review and meta‐analysis of 1,191 patients. DRPLA patients with epilepsy showed earlier disease onset, longer CAG repeat expansion, and a tendency toward paternal inheritance. EEG findings frequently included photoparoxysmal responses.
Toru Horinouchi +10 more
wiley +1 more source
Functional Insights into <i>SlNPF</i>, <i>SlNRT2</i>, and <i>SlAMT</i> Gene Families in Tomato: Leaf Metabolic Performance Controls Root-to-Shoot Nitrogen Partitioning. [PDF]
Ledesma-Valladolid JP +6 more
europepmc +1 more source

