Publications by authors named "Mako Morikawa"

Phytochemicals isolated from essential oils are effective alternatives for inhibiting microbial pathogens. Bovine protothecal mastitis is the cause of a reduction in milk production and the secretion of thin, watery milk with white flakes. In the present study, we performed in vitro susceptibility testing of the phytochemicals carvacrol, citral, and thymol in Prototheca strains isolated from cases of protothecosis in small animals and cow feces.

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Autism spectrum disorder (ASD) is caused by combined genetic and environmental factors. Genetic heritability in ASD is estimated as 60-90%, and genetic investigations have revealed many monogenic factors. We analyzed 405 patients with ASD using family-based exome sequencing to detect disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses.

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A number of genomic mutations that are thought to be strongly involved in the development of schizophrenia (SCZ) and autism spectrum disorder (ASD) have been identified. Abnormalities involving oligodendrocytes have been reported in SCZ, and as a related gene, oligodendrocyte lineage transcription factor 2 () has been reported to be strongly associated with SCZ. In this study, based on the common disease-rare variant hypothesis, target sequencing of candidate genes was performed to identify rare mutations with a high effect size and the possibility that the identified mutations may increase the risks of SCZ and ASD in the Japanese population.

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  • Autism spectrum disorder (ASD) is a complex genetic condition with significant heritability, and rare genetic variants play an important role in its risk.
  • A study involving 309 Japanese ASD cases and 299 controls identified associations between rare genetic variants and specific neurodevelopmental gene sets, notably in synaptic function genes.
  • The findings highlight the importance of the ABCA13 gene, related to synaptic function, in the context of ASD susceptibility among the Japanese population.
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  • The study investigates the differences and similarities in copy number variations (CNVs) related to bipolar disorder (BD), schizophrenia (SCZ), and autism spectrum disorder (ASD) using data from 8708 Japanese individuals.
  • It reveals that BD has a greater burden of smaller exonic deletions, while SCZ and ASD show a prevalence of larger exonic CNVs, with notable differences in the effect sizes and distributions of these CNVs across disorders.
  • Despite these differences, some shared molecular mechanisms, particularly in chromatin biology, were identified, and certain synaptic genes were linked to BD risk, suggesting potential pathways for further research into its causes.
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Introduction: Temperament and character of pregnant women, especially harm avoidance (HA) and self-directedness (SD) have been identified as risk factors for postpartum depression, in addition to poor social support. However, the relationship between these personality traits and social support for depressive symptoms after delivery has not been examined.

Methods: Data were extracted from a prospective cohort survey on pregnant women conducted in Nagoya, Japan that included the Temperament and Character Inventory (TCI), the Social Support Questionnaire (J-SSQ), and the Edinburgh Postnatal Depression Scale (EPDS) at approximately week 25 and 1 month postpartum.

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  • The Parental Bonding Instrument (PBI) assesses how individuals perceive their parents based on childhood experiences, influenced by factors like culture, race, and psychological conditions.
  • This study involved analyzing responses from 932 first-time mothers during pregnancy and postpartum, confirming that the PBI has three main factors: care, interference, and autonomy.
  • The research established that the PBI is both reliable and valid for use among perinatal Japanese women, with strong internal consistency and correlation with the Edinburgh Postnatal Depression Scale (EPDS).
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Disabled 1 (DAB1) is an intracellular adaptor protein in the Reelin signaling pathway and plays an essential role in correct neuronal migration and layer formation in the developing brain. DAB1 has been repeatedly reported to be associated with neurodevelopmental disorders including schizophrenia (SCZ) and autism spectrum disorders (ASD) in genetic, animal, and postmortem studies. Recently, increasing attention has been given to rare single-nucleotide variants (SNVs) found by deep sequencing of candidate genes.

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Dysregulation of epigenetic processes involving histone methylation induces neurodevelopmental impairments and has been implicated in schizophrenia (SCZ) and autism spectrum disorder (ASD). Variants in the gene encoding lysine demethylase 4C (KDM4C) have been suggested to confer a risk for such disorders. However, rare genetic variants in KDM4C have not been fully evaluated, and the functional impact of the variants has not been studied using patient-derived cells.

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  • The study investigates how the rates of depression after childbirth differ between first-time mothers (primiparas) and those with previous births (multiparas), finding that primiparas experience higher levels of maternity blues and postpartum depression.
  • Researchers conducted a survey in Japan, analyzing responses from over 1500 women using various statistical tests to assess differences in depressive states and social support.
  • Results indicate that primiparas reported more anxiety and perceived less social support compared to multiparas, highlighting the need for targeted support for first-time mothers during the perinatal period.
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Background: Rare genetic variants contribute to the etiology of both autism spectrum disorder (ASD) and schizophrenia (SCZ). Most genetic studies limit their focus to likely gene-disrupting mutations because they are relatively easier to interpret their effects on the gene product. Interpretation of missense variants is also informative to some pathophysiological mechanisms of these neurodevelopmental disorders; however, their contribution has not been elucidated because of relatively small effects.

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  • - The study investigates the Japanese version of the Inventory to Diagnose Depression, Lifetime version (IDDL) to assess its reliability and structure for pregnant women, with a specific focus on identifying risk factors for peripartum depression.
  • - Researchers analyzed 556 pregnant women, conducting factor analysis and assessing the validity and reliability using Cronbach's α coefficients to understand the IDDL's factor structure.
  • - The findings revealed a bifactor model consisting of a general dimension of depression alongside five specific factors related to different depressive symptoms, with good reliability scores for most factors.
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The relationship between perinatal depressive symptoms, harm avoidance (HA), and a history of major depressive disorder (MDD) was examined in a prospective cohort study. This study was conducted from May 1, 2011, to December 31, 2016. A history of MDD was evaluated using the Inventory to Diagnose Depression, Lifetime version during pregnancy.

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  • The study looked at how kindergarteners who survived the Great East Japan Earthquake and tsunami felt over time, especially regarding their traumatic feelings.
  • Parents filled out a questionnaire about their children's symptoms at different times after the disaster, and teachers shared info about the environment 8 months later.
  • The results showed that the children's traumatic feelings didn't change much based on disaster experiences, and eating breakfast seemed to impact their feelings early on, but not later.
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Background: Postpartum depression (PPD) is a major depressive disorder that occurs after childbirth. Objective diagnostic and predictive methods for PPD are important for early detection and appropriate intervention. DNA methylation has been recognized as a potential biomarker for major depressive disorder.

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Background: Many women experience depressive symptoms during pregnancy and postpartum periods. These depressive symptoms are often accompanied by other inflammatory morbidities present during pregnancy. Tryptophan (TRP) metabolism has attracted considerable attention due to its influence on the onset of depression via induction of inflammation.

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  • Early detection of perinatal depression is important, and this study evaluates the Japanese version of the Edinburgh Postnatal Depression Scale (EPDS) for its effectiveness from pregnancy to postpartum.
  • A total of 1075 women participated, completing the EPDS at four key points: early pregnancy, late pregnancy, 5 days postpartum, and 1 month postpartum, with exploratory and confirmatory factor analyses conducted on different sample sets.
  • The results showed reliable internal consistency (Cronbach's alpha values around 0.76) and identified three main factors measured by the EPDS: depression, anxiety, and anhedonia, indicating the tool's stability and usefulness during the peripartum period.
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Compelling evidence in Caucasian populations suggests a role for copy-number variations (CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 ASD cases, 2,458 SCZ cases, and 2,095 controls in a Japanese population and confirmed an increased burden of rare exonic CNVs in both disorders. Clinically significant (or pathogenic) CNVs, including those at 29 loci common to both disorders, were found in about 8% of ASD and SCZ cases, which was significantly higher than in controls.

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  • The study explored the connection between maternal bonding failure, depression, social support, and perceived parenting styles among mothers during pregnancy and after childbirth.
  • Researchers analyzed data from 855 women, using various questionnaires to assess factors like bonding and depression at two points: early pregnancy and one month post-delivery.
  • Results indicated that mothers' perceived parenting styles and social support during pregnancy significantly influenced both bonding and depression postpartum, suggesting psychosocial interventions could help improve these outcomes.
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This study aimed to assess the situation of postpartum depression and maternal bonding in Nagoya, a city distant from the epicenter of the Great East Japan Earthquake that occurred on March 11, 2011. Among the participants at 1 month after childbirth between March 11, 2010 and March 10, 2013 (n = 188), 152 fully responded to the Edinburgh Postnatal Depression Scale (EPDS) and Mother-Infant Bonding Questionnaire (MIBQ). They were divided into pre-quake (n = 58), and 0-6, 6-12, 12-18, and 18-24 months after the earthquake groups (n = 20, 26, 29, and 19, respectively).

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  • The Highs scale is designed to assess hypomanic symptoms in women during the first week after giving birth, but its relevance for pregnant women was previously unclear.
  • A study involving 418 women evaluated the Japanese version of the Highs scale across different stages: early pregnancy, late pregnancy, and after delivery, using factor analyses and reliability tests.
  • Results revealed that the scale has a two-factor structure (elation and agitation), reasonable internal consistency, and strong correlations with the Edinburgh Postnatal Depression Scale, confirming it as a reliable tool for assessing hypomanic symptoms during pregnancy and postpartum.
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Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses.

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  • Dysregulation of glutamate transmission via N-methyl-D-aspartate receptors (NMDARs) is linked to schizophrenia (SCZ) and autism spectrum disorder (ASD), with prior studies suggesting a role for NMDAR-encoding genes in these conditions.
  • A screening of exonic regions for several NMDAR subunit genes in 562 participants identified 40 rare genetic variants, including missense, a frameshift mutation in GRIN2C, and a splice site mutation in GRIN2D, some of which were predicted to have harmful effects.
  • Further analysis confirmed that the mutations in GRIN2C and GRIN2D were unique and not found in control groups, indicating that ultra-
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Migfilin, encoded by FBLIM1 at the 1p36 locus, is a multi-domain adaptor protein essential for various cellular processes such as cell morphology and migration. Small deletions and duplications at the 1p36 locus, monosomy of which results in neurodevelopmental disorders and multiple congenital anomalies, have also been identified in patients with autism spectrum disorder (ASD). However, the impact of FBLIM1, the gene within 1p36, on the pathogenesis of ASD is unknown.

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