Results 21 to 30 of about 883,768 (316)

11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report

Journal of Medical Case Reports, 2018
Background 11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia.
Yuko Ichimiya, Yuka Wada, Shinji Kunishima, Keiko Tsukamoto, Rika Kosaki, Haruhiko Sago, Akira Ishiguro, Yushi Ito   +7 more
doaj   +1 more source

Isolation of Nucleated Red Blood Cells With Intact Genomic DNA From Cord Blood by Applying G&T‐Seq

Reproductive Medicine and Biology
Purpose Fetal cells in maternal blood are a pure source of fetal genomic DNA for noninvasive prenatal testing (NIPT), if successfully isolated. We assessed whether single‐cell genome and transcriptome sequencing (G&T‐seq) can be applied to efficiently ...
Noriko Ito, Tatsuya Fujii, Kosuke Taniguchi, Yuka Okazaki, Hiroko Ogata‐Kawata, Haruhiko Sago, Kenichiro Hata, Kazuhiko Nakabayashi   +7 more
doaj   +1 more source

Crosstalk between the ribosome quality control‐associated E3 ubiquitin ligases LTN1 and RNF10

FEBS Letters, EarlyView.
Loss of the E3 ligase LTN1, the ubiquitin‐like modifier UFM1, or the deubiquitinating enzyme UFSP2 disrupts endoplasmic reticulum–ribosome quality control (ER‐RQC), a pathway that removes stalled ribosomes and faulty proteins. This disruption may trigger a compensatory response to ER‐RQC defects, including increased expression of the E3 ligase RNF10 ...
Yuxi Huang, Satoshi Hashimoto, Sota Ito, Chisato Kikuguchi, Miho Hoshi, Kiyoshi Yamaguchi, Yoichi Furukawa, Toru Suzuki, Toshifumi Inada   +8 more
wiley   +1 more source

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons

Molecular Genetics & Genomic Medicine
Background Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed. We aimed to improve diagnostic precision by developing an effective WES‐based strategy for detecting congenital anomalies.
Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, Asuka Hori, Hiroko Ogata‐Kawata, Saki Aoto, Ohsuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata   +15 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

Function‐driven design of a surrogate interleukin‐2 receptor ligand

FEBS Letters, EarlyView.
Interleukin (IL)‐2 signaling can be achieved and precisely fine‐tuned through the affinity, distance, and orientation of the heterodimeric receptors with their ligands. We designed a biased IL‐2 surrogate ligand that selectively promotes effector T and natural killer cell activation and differentiation. Interleukin (IL) receptors play a pivotal role in
Ziwei Tang, Zelin Cheng, Teng Li, Fulian Wang, Liangminghui Zhang, Xiuxiu He, Lili Liu, Wei Wang, Aibin Liang, Guang Yang   +9 more
wiley   +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

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

Multiple ETS family transcription factors bind mutant p53 via distinct interaction regions

FEBS Letters, EarlyView.
Mutant p53 gain‐of‐function is thought to be mediated by interaction with other transcription factors. We identify multiple ETS transcription factors that can bind mutant p53 and found that this interaction can be promoted by a PXXPP motif. ETS proteins that strongly bound mutant p53 were upregulated in ovarian cancer compared to ETS proteins that ...
Stephanie A. Metcalf, Nicholas F. Downing, Kaitlyn M. Mills, Samuel C. Metcalfe, Alexander E. Kritzer, Lindsey D. Mayo, Peter C. Hollenhorst   +6 more
wiley   +1 more source

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