نتائج البحث - "Takenouchi, Toshiki"

1

Academic Journal

Hemorrhagic shock and encephalopathy syndrome occurring in the setting of dual pathogenesis of cerebral cavernous malformation 1 and Houge-Janssens syndrome 2

المؤلفون: Yoshikawa, Haruna, Hayashi, Kenichiro, Yamada, Mamiko, Miya, Fuyuki, Kosaki, Kenjiro, Takenouchi, Toshiki

المساهمون: Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science

المصدر: Brain and Development Case Reports ; volume 2, issue 4, page 100038 ; ISSN 2950-2217

الاتاحة: https://doi.org/10.1016/j.bdcasr.2024.100038
https://api.elsevier.com/content/article/PII:S2950221724000345?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2950221724000345?httpAccept=text/plain

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2

Academic Journal

Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

المؤلفون: Yamada, Mamiko, Maeta, Kazuhiro, Suzuki, Hisato, Kurosawa, Ryo, Takenouchi, Toshiki, Awaya, Tomonari, Ajiro, Masahiko, Takeuchi, Atsuko, Nishio, Hisahide, Hagiwara, Masatoshi, Miya, Fuyuki, Matsuo, Masafumi, Kosaki, Kenjiro

المساهمون: JSPS KAKENHI Grant-in-Aid for Early-Career Scientists, Grant-in-Aid for JSPS Fellows, Japan Agency for Medical Research and Development

المصدر: Scientific Reports ; volume 14, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-024-56704-z
https://www.nature.com/articles/s41598-024-56704-z.pdf
https://www.nature.com/articles/s41598-024-56704-z

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3

Academic Journal

PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations

المؤلفون: Taniguchi, Noritaka, Watanuki, Keisuke, Nakato, Daisuke, Takenouchi, Toshiki, Kosaki, Kenjiro, Koga, Hiroshi

المصدر: Journal of Medical Genetics ; page jmg-2024-110379 ; ISSN 0022-2593 1468-6244

الاتاحة: https://doi.org/10.1136/jmg-2024-110379
https://syndication.highwire.org/content/doi/10.1136/jmg-2024-110379

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4

Academic Journal

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy

المؤلفون: Hayashi, Takahiro, Yano, Naoko, Kora, Kengo, Yokoyama, Atsushi, Maizuru, Kanako, Kayaki, Taisei, Nishikawa, Kinuko, Osawa, Mitsujiro, Niwa, Akira, Takenouchi, Toshiki, Hijikata, Atsushi, Shirai, Tsuyoshi, Suzuki, Hisato, Kosaki, Kenjiro, Saito, Megumu K, Takita, Junko, Yoshida, Takeshi

المساهمون: 林, 貴大, 矢野, 直子, 甲良, 謙伍, 横山, 淳史, 舞鶴, 賀奈子, 栢木, 大誓, 西川, 絹子, 大澤, 光次郎, 丹羽, 明, 齋藤, 潤, 滝田, 順子, 吉田, 健司, 20546999, 00359621, 50790557

مصطلحات موضوعية: autophagy, neurites, pc12 cells, nephrogenic fibrosing dermopathy, mtor serine-threonine kinases, tissue degeneration, encephalopathic epilepsy

Relation: http://hdl.handle.net/2433/286807; Human Molecular Genetics; 32; 10; 1683; 1697

الاتاحة: http://hdl.handle.net/2433/286807

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5

Academic Journal

Oculofaciocardiodental syndrome caused by a novel BCOR variant

المؤلفون: Yamashita, Tomoyo, Hotta, Junko, Jogu, Yukiko, Sakai, Eri, Ono, Chie, Bamba, Haruka, Suzuki, Hisato, Yamada, Mamiko, Takenouchi, Toshiki, Kosaki, Kenjiro, Yorifuji, Tohru, Hamazaki, Takashi, Seto, Toshiyuki

المصدر: Human Genome Variation ; volume 10, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/s41439-023-00244-x
https://www.nature.com/articles/s41439-023-00244-x.pdf
https://www.nature.com/articles/s41439-023-00244-x

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6

Academic Journal

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report

المؤلفون: Ouchi, Shogo, Ishii, Kazuhiro, Kosaki, Kenjiro, Suzuki, Hisato, Yamada, Mamiko, Takenouchi, Toshiki, Tamaoka, Akira

المساهمون: Japan Agency for Medical Research and Development

المصدر: BMC Neurology ; volume 23, issue 1 ; ISSN 1471-2377

الاتاحة: http://dx.doi.org/10.1186/s12883-023-03202-w
https://link.springer.com/content/pdf/10.1186/s12883-023-03202-w.pdf
https://link.springer.com/article/10.1186/s12883-023-03202-w/fulltext.html

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7

Academic Journal

Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome

المؤلفون: Nishio, Yosuke, Kato, Kohji, Tran Mau-Them, Frederic, Futagawa, Hiroshi, Quélin, Chloé, Masuda, Saori, Vitobello, Antonio, Otsuji, Shiomi, Shawki, Hossam H., Oishi, Hisashi, Thauvin-Robinet, Christel, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Yoshiyuki, Saitoh, Shinji

المساهمون: Japan Agency for Medical Research and Development, Japan Labour Health and Welfare Organization, Japan Society for the Promotion of Science, European Regional Development Fund, Japan Agency for Medical Research and Development Department of Industrial Academic Collaboration

المصدر: Human Genetics and Genomics Advances ; volume 4, issue 4, page 100238 ; ISSN 2666-2477

الاتاحة: http://dx.doi.org/10.1016/j.xhgg.2023.100238
https://api.elsevier.com/content/article/PII:S2666247723000702?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666247723000702?httpAccept=text/plain

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8

Academic Journal

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences

المؤلفون: Yamada, Mamiko, Nitta, Yohei, Uehara, Tomoko, Suzuki, Hisato, Miya, Fuyuki, Takenouchi, Toshiki, Tamura, Masaru, Ayabe, Shinya, Yoshiki, Atsushi, Maeno, Akiteru, Saga, Yumiko, Furuse, Tamio, Yamada, Ikuko, Okamoto, Nobuhiko, Kosaki, Kenjiro, Sugie, Atsushi

المصدر: European Journal of Medical Genetics ; volume 66, issue 8, page 104804 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2023.104804
https://api.elsevier.com/content/article/PII:S1769721223001106?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721223001106?httpAccept=text/plain

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9

Academic Journal

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

المؤلفون: Ogawa, Eri, Hishiki, Takako, Hayakawa, Noriyo, Suzuki, Hisato, Kosaki, Kenjiro, Suematsu, Makoto, Takenouchi, Toshiki

المصدر: Molecular Genetics and Metabolism Reports ; volume 35, page 100968 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2023.100968
https://api.elsevier.com/content/article/PII:S2214426923000149?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426923000149?httpAccept=text/plain

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10

Academic Journal

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

المؤلفون: Yamada, Mamiko, Okuno, Hironobu, Okamoto, Nobuhiko, Suzuki, Hisato, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro

المصدر: European Journal of Medical Genetics ; volume 66, issue 2, page 104690 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2022.104690
https://api.elsevier.com/content/article/PII:S1769721222002713?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721222002713?httpAccept=text/plain

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11

Academic Journal

Café-au-lait Spots and Cleft Palate: Not a Chance Association.

المؤلفون: Yamada, Mamiko, Tanito, Katsumi, Suzuki, Hisato, Nakato, Daisuke, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro

المصدر: Cleft Palate Craniofacial Journal; Nov2024, Vol. 61 Issue 11, p1932-1936, 5p

مصطلحات موضوعية: RISK assessment, CAFE-au-Lait spots (Disease), CHROMOSOME abnormalities, GENETIC counseling, CLEFT palate, GENETIC testing, DISEASE risk factors, DISEASE complications

12

Academic Journal

Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3

المؤلفون: Watanabe, Keisuke, Noguchi, Atsuko, Takahashi, Ikuko, Yamada, Mamiko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Tsutomu

المصدر: Human Genome Variation ; volume 9, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/s41439-022-00196-8
https://www.nature.com/articles/s41439-022-00196-8.pdf
https://www.nature.com/articles/s41439-022-00196-8

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13

Academic Journal

Pro108Ser mutation of SARS-CoV-2 3CLpro reduces the enzyme activity and ameliorates the clinical severity of COVID-19

المساهمون: Keio Gijuku Academic Development Funds and the Japan Agency for Medical Research Development

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-05424-3
https://www.nature.com/articles/s41598-022-05424-3.pdf
https://www.nature.com/articles/s41598-022-05424-3

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14

Academic Journal

De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence

المؤلفون: Suzuki, Hisato, Aoki, Kana, Kurosawa, Kenji, Imagawa, Kazuo, Ohto, Tatsuyuki, Yamada, Mamiko, Takenouchi, Toshiki, Kosaki, Kenjiro, Ishitani, Tohru

المساهمون: Takeda Foundation, Mitsubishi Foundation, Kawano Foundation, Daiichi Sankyo Foundation, Japan Agency for Medical Research and Development, Exploratory Research, Transformative Research Areas, Early-Career Scientists, JSPS Research Fellow

المصدر: Human Molecular Genetics ; volume 31, issue 22, page 3846-3854 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddac136
https://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddac136/44823629/ddac136.pdf
https://academic.oup.com/hmg/article-pdf/31/22/3846/46937632/ddac136.pdf

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15

Academic Journal

Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication

المؤلفون: Masuda, Takuya, Osaka, Hitoshi, Tsuchida, Naomi, Miyatake, Satoko, Nishimura, Kou, Takenouchi, Toshiki, Takahashi, Takao, Matsumoto, Naomichi, Yamagata, Takanori

المساهمون: Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science, Ichiro Kanehara Foundation for the Promotion of Medical Sciences and Medical Care, Masato Kawano Memorial Public Interest Foundation for Promotion of Pediatrics

المصدر: Epilepsy & Behavior Reports ; volume 19, page 100547 ; ISSN 2589-9864

الاتاحة: http://dx.doi.org/10.1016/j.ebr.2022.100547
https://api.elsevier.com/content/article/PII:S2589986422000247?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2589986422000247?httpAccept=text/plain

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