Publications by authors named "Keisuke Ishiwata"

Background/aim: Age-related decline in the number of ovulations and ovum quality are major causes of female infertility, and stem cells have been reported to be effective in tissue regeneration. However, current therapeutic modalities are inadequate. This study investigated the effects of adipose-derived mesenchymal stem cells (ASCs) on ovarian functions in aged mice.

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  • Scientists couldn't find special growth genes for men, but they studied why men are usually taller than women.
  • They discovered that a growth gene called SHOX was more active in boys than in girls, especially in their cartilage.
  • This study suggests that the differences in height between boys and girls might be linked to how this SHOX gene is controlled differently by their DNA.
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  • The zona fasciculata (zF) in the adrenal cortex produces glucocorticoids, which have various physiological effects, with characteristics showing a bias towards females.
  • A study found that female mice exhibited higher levels of mRNA and gene expression related to glucocorticoid synthesis, particularly the gene Nr5a1, which influences steroidogenic cell differentiation.
  • The research suggests that androgen may suppress global gene expression via NR5A1, indicating a biological mechanism for sex differentiation driven by glucocorticoid synthesis.
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Background: Previous studies have shown that a small percentage of people in the general population have atypical gender identity and/or sexual orientation.

Aim: This study aimed to explore variations in gender identity and sexual orientation in university students and determine genetic factors associated with these variations.

Methods: Deviations from complete gender congruence and exclusive heterosexual orientation in 736 Japanese university students were quantitatively assessed with self-assessment questionnaires.

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  • * A comparison was made between our new approach, EMCap, and a standard protocol using publicly available data, showing both methods produced similar quality results.
  • * EMCap is more cost-effective and requires less genomic DNA, making it a preferable option for clinical applications in methylome sequencing.
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  • Second malignant neoplasms (SMNs) are serious complications that can develop after pediatric cancer treatment, and this study investigates the genetic factors that may influence their occurrence.
  • The researchers conducted whole-exome sequencing on 14 pediatric patients with SMNs and found that 35.7% had harmful genetic mutations in cancer-predisposing genes, particularly in TP53 and DICER1, which is significantly higher than in a control group.
  • The findings suggest that genetic variations, along with treatments like platinum drugs, contribute to the risk of developing secondary cancers, indicating the need for thorough genetic analysis to better predict and manage these risks in pediatric cancer survivors.
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Loss of methylation (LOM) at GNAS-A/B:TSS-differentially methylated regions (DMRs) in the GNAS locus is observed in pseudohypoparathyroidism type 1B (PHP1B). Many PHP1B cases are sporadic, but autosomal dominant-PHP1B has a deletion involving NESP55 expressed from the maternal allele or STX16 located upstream of the GNAS locus on the maternal allele. We report the possible first familial PHP1B cases with retrotransposon insertion in the GNAS locus on the maternal allele.

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  • Liquid biopsy is a noninvasive method using blood samples to detect genomic changes, offering an alternative to traditional tissue biopsies for patients with neuroblastoma (NB).
  • In this study, researchers analyzed cell-free DNA (cfDNA) from 24 NB patients at diagnosis, focusing on MYCN amplification and 11q loss of heterozygosity (11qLOH) using droplet digital PCR (ddPCR).
  • The analysis showed a strong correlation (0.88) between MYCN copy numbers in cfDNA and tumor DNA, indicating that cfDNA is a reliable source for assessing these genomic factors in NB patients.
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  • The study investigates genetic variation's impact on second malignant neoplasms (SMNs) in children previously treated for leukemia or lymphoma, focusing on NUDT15 gene variants.
  • A higher prevalence of NUDT15 hypomorphic variants was found in children with SMNs compared to the general population, suggesting a potential link.
  • Treatment with the chemotherapy drug 6-mercaptopurine (6-MP) resulted in increased DNA damage in cells lacking functional NUDT15, indicating these variants may heighten SMN risk in affected patients.
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  • Atypical Burkitt leukemia/lymphoma (preBLL) has distinct molecular features that set it apart from classical Burkitt lymphoma (BL), particularly in their genetic mutations and translocation patterns.
  • A case study of an infant with preBLL revealed a mix of characteristics from both preBLL and classical BL, differing in immunophenotyping and genetic mutations.
  • The findings suggest that not all preBLL cases are easily distinguishable, highlighting the need for more research to better understand the variations within preBLL.
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  • Peripheral T-cell lymphoma (PTCL) in kids is not well understood, especially regarding its genetic differences compared to adults, and this study explored these aspects using advanced genetic sequencing techniques.
  • Researchers analyzed tumor samples from 26 pediatric patients and discovered several new genetic mutations associated with PTCL, as well as some that have been previously reported in adult cases.
  • The study found significant differences in genetic alterations between EBV-positive and EBV-negative PTCL cases, highlighting unique molecular mechanisms for pediatric PTCL that could guide future research and treatment options.
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The class Branchiopoda (Crustacea) shows great diversity in morphology and lifestyle among its constituent higher-level taxa: Anostraca, Notostraca, Laevicaudata, Spinicaudata, Cyclestherida and Cladocera. The phylogenetic relationships among these taxa have long been controversial. We sequenced three orthologous nuclear genes that encode the catalytic subunit of DNA polymerase delta and the largest and second-largest subunits of RNA polymerase II in the expectation that the amino acid sequences encoded by these genes might be effective in clarifying branchiopod phylogeny and estimating the times of divergence of the major branchiopodan taxa.

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Isolated hypogonadotropic hypogonadism (IHH), combined pituitary hormone deficiency (CPHD), and septo-optic dysplasia (SOD) constitute a disease spectrum whose etiology remains largely unknown. This study aimed to clarify whether mutations in SMCHD1, an epigenetic regulator gene, might underlie this disease spectrum. SMCHD1 is a causative gene for Bosma arhinia microphthalmia syndrome characterized by arhinia, microphthalmia and IHH.

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Background: Molecular phylogenetic analyses have revealed that Hexapoda and Crustacea form a common clade (the Pancrustacea), which is now widely accepted among zoologists; however, the origin of Hexapoda remains unresolved. The main problems are the unclear relationships among the basal hexapod lineages, Protura (proturans), Collembola (springtails), Diplura (diplurans), and Ectognatha (bristletails, silverfishes, and all winged insects). Mitogenomic analyses have challenged hexapod monophyly and suggested the reciprocal paraphyly of Hexapoda and Crustacea, whereas studies based on nuclear molecular data support the monophyletic origin of hexapods.

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Many attempts to resolve the phylogenetic relationships of higher groups of insects have been made based on both morphological and molecular evidence; nonetheless, most of the interordinal relationships of insects remain unclear or are controversial. As a new approach, in this study we sequenced three nuclear genes encoding the catalytic subunit of DNA polymerase delta and the two largest subunits of RNA polymerase II from all insect orders. The predicted amino acid sequences (In total, approx.

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We constructed a Bacillus subtilis Marburg strain that harbors deletion mutations in all seven extracytoplasmic function (ECF) sigma genes. The strain shows wild-type growth at 37 degrees C both in a complex and in a synthetic medium and exhibits wild-type sporulation. ECF sigma genes of B.

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