Results 41 to 50 of about 938,719 (314)

Loss of NSD2 causes dysregulation of synaptic genes and altered H3K36 dimethylation in mice

Frontiers in Genetics
Background: Epigenetic disruptions have been implicated in neurodevelopmental disorders. NSD2 is associated with developmental delay/intellectual disability; however, its role in brain development and function remains unclear.Methods: We performed ...
Shiori Kinoshita, Shiori Kinoshita, Kazuaki Kojima, Eriko Ohnishi, Yuka Takayama, Hiroki Kikuchi, Shuji Takada, Kazuhiko Nakabayashi, Tomoko Kawai, Kenichiro Hata, Kenichiro Hata   +10 more
doaj   +1 more source

Lists of HumanMethylation450 BeadChip probes with nucleotide-variant information obtained from the Phase 3 data of the 1000 Genomes Project

Genomics Data, 2016
The Illumina's Infinium HumanMethylation450 (HM450) BeadChip array provides a simultaneous examination of DNA methylation status of more than 480,000 CpG sites in the human genome.
Kohji Okamura, Tomoko Kawai, Kenichiro Hata, Kazuhiko Nakabayashi   +3 more
doaj   +1 more source

Prenatal diagnosis of congenital thyroid teratoma

Journal of Pediatric Surgery Case Reports, 2020
We report a case of congenital thyroid teratoma that was diagnosed in fetal life and completely excised after birth. The histopathological diagnosis was immature teratoma.
Teizaburo Mori, Yumi Kudo, Yutaka Kanamori, Kazunori Tahara, Yohei Yamada, Mai Kutsukake, Takuro Fujita, Kazue Miyake, Akihiro Fujino, Nozomi Takahashi, Noriko Morimoto, Yohei Kosugi, Yoji Uehara, Yushi Ito, Osamu Miyazaki, Rika Sugibayashi, Katsusuke Ozawa, Seiji Wada, Haruhiko Sago   +18 more
doaj   +1 more source

Do facial expressions develop before birth? [PDF]

, 2011
Background: Fetal facial development is essential not only for postnatal bonding between parents and child, but also theoretically for the study of the origins of affect. However, how such movements become coordinated is poorly understood. 4-D ultrasound
Nadja Reissland, Brian Francis, Mason James, Francis, Brian, Reissland, N., Mason, JM., Francis Brian, Reissland, Nadja, Karen Lincoln, Reissland Nadja, Lincoln Karen, Lincoln, K., Mason, J., Nadja Reissl, Mason, James, Lincoln, Karen, James Mason, Francis, B.   +17 more
core   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

A sensitive method for analyzing fluconazole in extremely small volumes of neonatal serum

Journal of Pharmaceutical Health Care and Sciences, 2020
Background The need for a large volume of serum sample significantly reduces the feasibility of neonatal pharmacokinetic studies in daily practice, which must often rely on scavenged or opportunistic sampling.
Jumpei Saito, Ayano Tanzawa, Yuka Kojo, Hidehiko Maruyama, Tetsuya Isayama, Kensuke Shoji, Yushi Ito, Akimasa Yamatani   +7 more
doaj   +1 more source

Apoptosis in mouse fetal and neonatal oocytes during meiotic prophase one [PDF]

, 2007
Background The vast majority of oocytes formed in the fetal ovary do not survive beyond birth. Possible reasons for their loss include the elimination of non-viable genetic constitutions arising through meiosis, however, the ...
Geraldine M Hartshorne, Gutierrez , Carlos G., Ghafari , Fataneh, Fataneh Ghafari, Carlos G Gutierrez, Hartshorne, Geraldine M.   +5 more
core   +1 more source

The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes

FEBS Letters, EarlyView.
Upon lysosomal rupture, an E3 ubiquitin ligase RNF115 translocates from the cytosol to the damaged lysosomal membrane. Moreover, RNF115 depletion impairs the clearance of damaged lysosomes, identifying it as a key regulator of lysosomal quality control.
Sae Nakanaga, Toshiki Takahashi, Akiko Kuma, Hiroyuki Kawahara   +3 more
wiley   +1 more source

Fetal MRI : an essential step in interpreting complex ultrasound findings [PDF]

, 2016
Background: Fetal magnetic resonance imaging (MRI) allows for the interpretation of complex fetal anomalies detected on ultrasound (US). Locally it has been available since 2013 but has remained underused.
Gatt, Andre Stefan, Baldacchino, Ian, Saliba, Isabelle   +2 more
core  

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source