A5046891291- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Eicosanoids and Hypertension Pharmacology
- Genomics and Rare Diseases
- Geomagnetism and Paleomagnetism Studies
- Characterization and Applications of Magnetic Nanoparticles
- Fluid Dynamics and Turbulent Flows
- Synthetic Organic Chemistry Methods
- Chemical Synthesis and Reactions
- Congenital Diaphragmatic Hernia Studies
- Hedgehog Signaling Pathway Studies
- Chemical Synthesis and Analysis
- Aerodynamics and Acoustics in Jet Flows
- Chromatin Remodeling and Cancer
- Genetics and Neurodevelopmental Disorders
- Oxidative Organic Chemistry Reactions
- Plasma and Flow Control in Aerodynamics
- Genetic and Kidney Cyst Diseases
- Abdominal vascular conditions and treatments
- Infectious Aortic and Vascular Conditions
- Parvovirus B19 Infection Studies
- Cancer Mechanisms and Therapy
- Impact of Light on Environment and Health
- Autism Spectrum Disorder Research
Keiai University
2020-2024
Juntendo University
2016-2023
Kiryu University
2023
Yokohama City University
2014-2020
Meiji University of Integrative Medicine
2019
The University of Tokyo
2017
Toyohashi University of Technology
2014-2016
Nakadōri General Hospital
1996-2016
Utsunomiya University
2016
Akita University
2013
Highlights•Exome sequencing of Japanese ASD trios supports "de novo paradigm"•Integrative analyses were conducted by combining with published DNM data•Integrative confirm and extend ASD-related molecular brain networks•Integrative identify 61 significant genes as well drug candidatesSummaryRecent studies have established important roles de mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs 262 probands origin the paradigm" ASDs across ethnicities. Based on this...
Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia cerebellar vermis, thickened and elongated superior peduncles, a deep interpeduncular fossa which defined neuroimaging termed 'molar tooth sign'. JS genetically highly heterogeneous, with at least 29 disease genes being involved. To further understand genetic causes JS, we performed whole-exome sequencing in 24 newly recruited families. Together six previously reported families,...
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity specificity, reproducibility, precision. However, operational optimization of such for a better performance has not fully addressed. ES 1199 samples including 763 patients with different disease profiles was performed. were analyzed CNVs by both the eXome Hidden Markov Model (XHMM) modified Nord's method. To efficiently rare CNVs, we aimed decrease...
Abstract Objective Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large‐scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion the cases still remain unexplained. We aimed to identify novel NDDs. Methods performed exome sequencing 95 patients NDDs including 51 trigonocephaly and subsequent targeted additional 463 NDD patients, functional variant in vitro, evaluations autism spectrum disorder (ASD)‐like...
This paper presents the development of high efficiency (IE5-class) industrial motor with an amorphous core for large capacity applications. Interest in saving energy increases on a global scale, and attracts attention. As field industry, legal regulation to IEC standard is promoted each country. We developed magnetic characteristic evaluation technology highly precise analysis design technique reduce loss more from IE4 class. found structure metal core, trial was able achieve class IE5 by...
Abstract Aim Adaptation to local environments has been considered a driving force of ecological speciation. Previous phylogenetic studies at higher taxonomic levels have strongly suggested that herbivore diversification occurs through adaptation host plants. However, whether similar mechanisms contribute within‐species remains poorly understood. We reconstructed species expansion processes using the relationships between two Luehdorfia butterflies and their plants tested hypothesis during...
A history of preterm birth is a risk factor for in future pregnancy, and there are some reports prevention methods, such as the administration progesterone. However, rate recurrence Japan has not been clarified, no data judging whether these preventive methods effective.To clarify prelabor rupture membranes (pPROM) Japan.A retrospective study was conducted using perinatal registration database Obstetrics Gynecology Society Perinatal Center from 2014 to 2016. There were 704,418 subjects,...
Abstract RAC1 at 7p22.1 encodes a RAC family small GTPase that regulates actin cytoskeleton organization and intracellular signaling pathways. Pathogenic variants result in developmental delay multiple anomalies. Here, exome sequencing identified rare de novo variant [NM_018890.4:c.118T > C p.(Tyr40His)] male patient. Fetal ultrasonography indicated the patient to have anomalies, including persistent left superior vena cava, total anomalous pulmonary venous return, esophageal atresia,...
Using multistep laser excitation via 4sn's Rydberg states, doubly excited mlns (ml=8s and 7d; m+1<or=n<or=20) states of Ca atoms have been observed. The quantum defects the observed obtained discussed. For with m<<n, are almost independent n in both 8sns 7dns series. m approximately=n however, defect state increases remarkably as decreases to approach m, while that does not significantly change but rather tends decrease decreasing n.
Abstract Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) 2 7-year-old girl white matter hypoplasia cleft palate). X inactivation was highly skewed both cases.
We developed a robust HTS-SQUID magnetometer utilizing bicrystal SrTiO <sub xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">3</sub> substrates, single-layer YBa xmlns:xlink="http://www.w3.org/1999/xlink">2</sub> Cu O xmlns:xlink="http://www.w3.org/1999/xlink">7-x</sub> films and flip-chip technique, aiming for movable robot-based NDE system in unshielded environment. Robustness the environment was achieved by coverage of SQUID with another...