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156 results on '"Nishimura, Naoto"'

3. Automatic Object Detection from Digital Images by Deep Learning with Transfer Learning

Author

Yabuki, Nobuyoshi, Nishimura, Naoto, Fukuda, Tomohiro, Hutchison, David, Series Editor, Kanade, Takeo, Series Editor, Kittler, Josef, Series Editor, Kleinberg, Jon M., Series Editor, Mattern, Friedemann, Series Editor, Mitchell, John C., Series Editor, Naor, Moni, Series Editor, Pandu Rangan, C., Series Editor, Steffen, Bernhard, Series Editor, Terzopoulos, Demetri, Series Editor, Tygar, Doug, Series Editor, Weikum, Gerhard, Series Editor, Smith, Ian F. C., editor, and Domer, Bernd, editor

Published
2018
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17. Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes

Author

Nishimura, Naoto, Enomoto, Yumi, Kumaki, Tatsuro, Murakami, Hiroaki, Ikeda, Azusa, Goto, Tomohide, and Kurosawa, Kenji

Subjects
Novel Insights from Clinical Practice
Abstract

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (KAT6B). These variants tend to occur in the terminal exons of KAT6B. Here, we report a patient with global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, facial dysmorphism, and seizures caused by a novel missense variant in exon 7 of KAT6B. The patient showed a phenotype differing from those of SBBYSS and GPS. We also report patients with missense variants in the proximal exons of KAT6B showing dysmorphic features and autistic behavior not resembling the characteristics of SBBYSS and GPS. Missense variants in the proximal exons of KAT6B may have a dominant negative effect or cause gain of function, leading to unique phenotypes not resembling those of SBBYSS and GPS.

Published
2022

18. Complex congenital cardiovascular anomaly in a patient with AGO1‐associated disorder.

Author

Takagi, Minako, Ono, Shin, Kumaki, Tatsuro, Nishimura, Naoto, Murakami, Hiroaki, Enomoto, Yumi, Naruto, Takuya, Ueda, Hideaki, and Kurosawa, Kenji

Abstract

Pathogenic AGO1 variants have been associated with neurodevelopmental disorders, including autism spectrum disorder, developmental delay, intellectual disability, and dysmorphic facial appearance. In mammalian models, defects in microRNA (miRNA) biogenesis are associated with congenital heart disease and dilated cardiomyopathy. We describe the case of a patient with partial anomalous pulmonary venous return, hypoplastic left lung, bilateral pulmonary sequestration, and dilated myocardiopathy. We identified a de novo pathogenic variant of AGO1, which encodes an Argonaute protein forming a gene‐silencing complex with microRNAs. The patient was diagnosed with dilated cardiomyopathy with no apparent cause at 3 years of age. She was started on enalapril and carvedilol, and her heart failure was well controlled. We expanded the AGO1‐associated phenotype to include complex congenital cardiovascular anomaly and dilated cardiomyopathy in humans. [ABSTRACT FROM AUTHOR]

Published
2023
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29. Update of the genotype and phenotype ofKMT2DandKDM6Aby genetic screening of 100 patients with clinically suspected Kabuki syndrome

Author

Murakami, Hiroaki, primary, Tsurusaki, Yoshinori, additional, Enomoto, Keisuke, additional, Kuroda, Yukiko, additional, Yokoi, Takayuki, additional, Furuya, Noritaka, additional, Yoshihashi, Hiroshi, additional, Minatogawa, Mari, additional, Abe‐Hatano, Chihiro, additional, Ohashi, Ikuko, additional, Nishimura, Naoto, additional, Kumaki, Tatsuro, additional, Enomoto, Yumi, additional, Naruto, Takuya, additional, Iwasaki, Fuminori, additional, Harada, Noriaki, additional, Ishikawa, Aki, additional, Kawame, Hiroshi, additional, Sameshima, Kiyoko, additional, Yamaguchi, Yu, additional, Kobayashi, Masahisa, additional, Tominaga, Makiko, additional, Ishikiriyama, Satoshi, additional, Tanaka, Toshiaki, additional, Suzumura, Hiroshi, additional, Ninomiya, Shinsuke, additional, Kondo, Akane, additional, Kaname, Tadashi, additional, Kosaki, Kenjiro, additional, Masuno, Mitsuo, additional, Kuroki, Yoshikazu, additional, and Kurosawa, Kenji, additional

Published
2020
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32. Delineation of a Phenotype Caused by a KAT6BMissense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes

Author

Nishimura, Naoto, Enomoto, Yumi, Kumaki, Tatsuro, Murakami, Hiroaki, Ikeda, Azusa, Goto, Tomohide, and Kurosawa, Kenji

Abstract

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (KAT6B). These variants tend to occur in the terminal exons of KAT6B. Here, we report a patient with global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, facial dysmorphism, and seizures caused by a novel missense variant in exon 7 of KAT6B. The patient showed a phenotype differing from those of SBBYSS and GPS. We also report patients with missense variants in the proximal exons of KAT6Bshowing dysmorphic features and autistic behavior not resembling the characteristics of SBBYSS and GPS. Missense variants in the proximal exons of KAT6Bmay have a dominant negative effect or cause gain of function, leading to unique phenotypes not resembling those of SBBYSS and GPS.

Published
2022
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34. Involvement of DNA methylation in regulating rat Prop1 gene expression during pituitary organogenesis

Author

NISHIHARA, Hiroto, YOSHIDA, Saishu, KANNO, Naoko, NISHIMURA, Naoto, UEHARU, Hiroki, OHGANE, Jun, KATO, Takako, and KATO, Yukio

Subjects
Homeodomain Proteins, Male, endocrine system, DNA methylation, Organogenesis, Gene Expression Profiling, Temperature, Computational Biology, Gene Expression Regulation, Developmental, DNA, Epigenesis, Genetic, Rats, Pituitary, Liver, Pituitary Gland, Rat, Animals, Original Article, CpG Islands, Female, Rats, Wistar, PROP1
Abstract

PROP1 is a pituitary specific transcription factor that plays a crucial role in pituitary organogenesis. The Prop1 shows varied expression patterns that promptly emerge and then fade during the early embryonic period. However, the regulatory mechanisms governing Prop1 expression remain unclear. Here, we investigated whether Prop1 was under epigenetic regulation by DNA methylation. Bisulfite sequencing was performed on DNA obtained from the pituitary glands and livers of rats on embryonic days (E) 13.5 and E14.5, and postnatal days (P) 4 and P30. The methylation of CpG sites in seven regions from 3-kb upstream of the Prop1 transcription start site through to its second intron were examined. Certain differences in CpG-methylation levels were observed in Region-1 (-2772 b to -2355 b), Region-4 (-198 b to +286 b), Region-5 (+671 b to +990 b), and Region-6 (+1113 b to +1273 b) based on comparisons between pituitary and liver DNA on E13.5. DNA methylation in pituitary glands on E14.5, P4, and P30 was generally similar to that observed in in the pituitary gland on E13.5, whereas the anterior and intermediate lobes of the pituitary gland on P4 and P30 showed only small differences. These results indicate that Prop1 is under regulation by CpG methylation during the early period of pituitary primordium development around E13.5.

Published
2016

36. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Author

Murakami, Hiroaki, Tsurusaki, Yoshinori, Enomoto, Keisuke, Kuroda, Yukiko, Yokoi, Takayuki, Furuya, Noritaka, Yoshihashi, Hiroshi, Minatogawa, Mari, Abe‐Hatano, Chihiro, Ohashi, Ikuko, Nishimura, Naoto, Kumaki, Tatsuro, Enomoto, Yumi, Naruto, Takuya, Iwasaki, Fuminori, Harada, Noriaki, Ishikawa, Aki, Kawame, Hiroshi, Sameshima, Kiyoko, and Yamaguchi, Yu

Abstract

Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KMT2D) and lysine demethylase 6A (KDM6A). In this study, we present the results of genetic screening of 100 patients with a suspected diagnosis of Kabuki syndrome in our center from July 2010 to June 2018. We identified 76 variants (43 novel) in KMT2D and 4 variants (3 novel) in KDM6A as pathogenic or likely pathogenic. Rare variants included a deep splicing variant (c.14000‐8C>G) confirmed by RNA sequencing and an 18% mosaicism level for a KMT2D mutation. We also characterized a case with a blended phenotype consisting of Kabuki syndrome, osteogenesis imperfecta, and 16p13.11 microdeletion. We summarized the clinical phenotypes of 44 patients including a patient who developed cervical cancer of unknown origin at 16 years of age. This study presents important details of patients with Kabuki syndrome including rare clinical cases and expands our genetic understanding of this syndrome, which will help clinicians and researchers better manage and understand patients with Kabuki syndrome they may encounter. [ABSTRACT FROM AUTHOR]

Published
2020
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46. Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73.

Author

Nishimura, Naoto, Murakami, Hiroaki, Saito, Toshiyuki, Masuno, Mitsuo, and Kurosawa, Kenji

Subjects
CELL cycle proteins, CHROMOSOMAL rearrangement, FIBROMAS, BACTERIAL artificial chromosomes, TUMORS, COMPARATIVE genomic hybridization
Abstract

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73 Hyperparathyroidism-jaw tumor (HPT-JT) is caused by a loss-of-function mutation or haploinsufficiency of cell division cycle protein 73 ( I CDC73 i ), a tumor-suppressor gene in chromosome 1q31.2. I CDC73 i mutation leads to parathyroid tumor development, parathyroid carcinoma, and mandible/maxilla ossifying fibroma in 90%, 15%, and 25% cases, respectively; approximately 75% female patients develop benign or malignant uterine tumors. [Extracted from the article]

Published
2020
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