P371: Pathogenic variant in DACH1 may cause a new neurodevelopmental syndrome with hearing loss and nephropathy

Authors: Nobuhiko Okamoto, Eriko Nishi, Kumiko Yanagi, Tadashi Kaname

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 102336- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425003759; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/6e448646940a4f91b190dd5c60e28591

P392: Mixed and blended phenotype of Sotos syndrome and KBG syndrome: Clinical features in a girl with both syndromes

Authors: Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 103259- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774425012981; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/a16b0d6b5cd647899f93de43098d5f42

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

Authors: Serena Hamanaka, MD, Toru Uchiyama, MD, PhD, Tadashi Kaname, MD, PhD, Motohiro Matsui, MD, Hiroshi Yoshihashi, MD, Atsushi Makimoto, MD, PhD, Yuki Yuza, MD, Akira Ishiguro, MD

Source: Journal of Pediatrics: Clinical Practice, Vol 14, Iss , Pp 200128- (2024)

Subject Terms: X-linked thrombocytopenia, Wiskott-Aldrich syndrome protein, novel variant, lymphocyte, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2950541024000346; https://doaj.org/toc/2950-5410

Access URL: https://doaj.org/article/3dafd6dba22f46859e9e68ef6f1112e6

Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy

Authors: Masanori Inoue, Wulan Apridita Sebastian, Shota Sonoda, Hiroaki Miyahara, Nobuyuki Shimizu, Hiroshi Shiraishi, Miwako Maeda, Kumiko Yanagi, Tadashi Kaname, Reiko Hanada, Toshikatsu Hanada, Kenji Ihara

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)

Subject Terms: Autophagy, DGAT1, LARS1, Fatty liver, ILFS1, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/53ef72dfa87b4e6d82ec5d817e1bf0f2

Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report

Authors: Hideo Handa, Atsuhiko Sugiyama, Tadashi Kaname, Yoko Shigemoto, Noriko Sato, Shigeki Hirano, Yuki Nakagawa, Akiyuki Uzawa, Akiyo Aotsuka, Satoshi Kuwabara

Source: BMC Neurology, Vol 24, Iss 1, Pp 1-6 (2024)

Subject Terms: Familial encephalopathy with neuroserpin inclusion bodies (FENIB), SERPINI1, Progressive myoclonic epilepsy (PME), Voxel based morphometry (VBM), Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2377

Access URL: https://doaj.org/article/8a473ae3b90b45d0b32ce7ad40dfc6e7

Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population

Authors: Kei-ichiro Inamori, Katsuya Nakamura, Fumi Shishido, Jia-Chen Hsu, Masakazu Nagafuku, Takahiro Nitta, Junji Ikeda, Hidekane Yoshimura, Minori Kodaira, Naomi Tsuchida, Naomichi Matsumoto, Satoshi Uemura, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Akira Togayachi, Kiyoko F. Aoki-Kinoshita, Shoko Nishihara, Jun-ichi Furukawa, Tadashi Kaname, Masahiko Nakamura, Takayoshi Shimohata, Shu Tadaka, Matsuyuki Shirota, Kengo Kinoshita, Yutaka Nakamura, Isao Ohno, Yoshiki Sekijima, Jin-ichi Inokuchi

Source: Frontiers in Neuroscience, Vol 18 (2024)

Subject Terms: hereditary spastic paraplegia, gangliosides, B4GALNT1, GM2/GD2 synthase, glycosyltransferase, missense variant, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2024.1437668/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/71c917f9d2d54bdf92d9ba2611dfc30c

A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression

Authors: Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima

Source: Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)

Subject Terms: Genetics, QH426-470, Life, QH501-531

File Description: electronic resource

Relation: https://doaj.org/toc/2054-345X

Access URL: https://doaj.org/article/7a1aace2aa544f5c862982906ea4209e

Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype

Authors: Takaya Iida, Arisa Igarashi, Kae Fukunaga, Taiga Aoki, Tomomi Hidai, Kumiko Yanagi, Masahiko Yamamori, Kazuhito Satou, Hayato Go, Tomoki Kosho, Ryuto Maki, Takashi Suzuki, Yohei Nitta, Atsushi Sugie, Yoichi Asaoka, Makoto Furutani-Seiki, Tetsuaki Kimura, Yoichi Matsubara, Tadashi Kaname

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: RRAS2, Noonan-like phenotype, functional analysis, Ras/mapk signaling pathway, pathogenic variants, gain-of-function, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1383176/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/be8d0351718044458620c887c218580e

Clinical details of individuals with Rauch–Steindl syndrome due to NSD2 truncating variants

Authors: Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)

Subject Terms: loss‐of‐function, NSD2, psychomotor delay, Rauch–Steindl syndrome, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/fd6a9b0e24244c0c98e780bcc465462c

A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD

Authors: Akiko Suga, Kei Mizobuchi, Taiga Inooka, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kazuki Kuniyoshi, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Takaaki Hayashi, Shinji Ueno, Takeshi Iwata, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Reiko Miyahara, Hideyuki Shimanuki

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101843- (2024)

Subject Terms: Achromatopsia, Genome sequencing, RPGRIP1, Structural variant, Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009890; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/a0a40200ace245f49c062e5cf42c6c3b

Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL

Authors: Eriko Aoki, Noriyoshi Manabe, Shiho Ohno, Taiga Aoki, Jun-Ichi Furukawa, Akira Togayachi, Kiyoko Aoki-Kinoshita, Jin-Ichi Inokuchi, Kenji Kurosawa, Tadashi Kaname, Yoshiki Yamaguchi, Shoko Nishihara

Source: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101016- (2023)

Subject Terms: Arylsulfatase L, Rare disease, Missense variant, Stabilization energy, Sulfatase activity, Protein instability, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000629; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/9a483fec4a0e4c73898ecb681d86b97e

Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis

Authors: Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, Reiko Miyahara, Seik-Soon Khor, Eisei Noiri, Koji Kitajima, Hideyuki Shimanuki, Hiroyuki Gatanaga, Kenichiro Hata, Kotaro Hattori, Aritoshi Iida, Hatsue Ishibashi-Ueda, Tadashi Kaname, Tatsuya Kanto, Ryo Matsumura, Kengo Miyo, Michio Noguchi, Kouichi Ozaki, Masaya Sugiyama, Ayako Takahashi, Haruhiko Tokuda, Tsutomu Tomita, Akihiro Umezawa, Hiroshi Watanabe, Sumiko Yoshida, Yu-ichi Goto, Yutaka Maruoka, Yoichi Matsubara, Shumpei Niida, Masashi Mizokami, Katsushi Tokunaga

Source: PLoS Genetics, Vol 19, Iss 12 (2023)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10703243/?tool=EBI; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/6db25ba150464d898a76c060386a066c

A novel HECW2 variant in an infant with congenital long QT syndrome

Authors: Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi

Source: Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)

Subject Terms: Genetics, QH426-470, Life, QH501-531

File Description: electronic resource

Relation: https://doaj.org/toc/2054-345X

Access URL: https://doaj.org/article/759a403f14234af1881497e323c091ca

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

Authors: Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname

Source: Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)

Subject Terms: Genetics, QH426-470, Life, QH501-531

File Description: electronic resource

Relation: https://doaj.org/toc/2054-345X

Access URL: https://doaj.org/article/432685503f354b80804511cf5fd6f651

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Authors: Nobuo Matsuura, Tadashi Kaname, Norio Niikawa, Yoshihide Ooyama, Osamu Shinohara, Yukifumi Yokota, Shigeyuki Ohtsu, Noriyuki Takubo, Kazuteru Kitsuda, Keiko Shibayama, Fumio Takada, Akemi Koike, Hitomi Sano, Yoshiya Ito, Kenji Ishikura

Source: Endocrine Connections, Vol 11, Iss 10, Pp 1-9 (2022)

Subject Terms: pde4d gene defects, prkar1a gene defects, acrodysostosis, gnas gene, pseudohypoparathyroidism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/11/10/EC-22-0151.xml; https://doaj.org/toc/2049-3614

Access URL: https://doaj.org/article/63dadf17c2c844cfbeca1f4f723ed485

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Authors: Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/74fa295534ea4b28abbb48acc9d5d11c

Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient

Authors: Yuya Fukuda, Yoshimasa Kudo, Makoto Saito, Tadashi Kaname, Tohru Oota, Reikichi Shoji

Source: Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)

Subject Terms: Genetics, QH426-470, Life, QH501-531

File Description: electronic resource

Relation: https://doaj.org/toc/2054-345X

Access URL: https://doaj.org/article/7861164f1f41411286e57cacff4d64ef

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

Authors: Yasutsugu Chinen, Sadao Nakamura, Kumiko Yanagi, Takuya Kaneshi, Hideki Goya, Tomohide Yoshida, Kazuhito Satou, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi

Source: Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)

Subject Terms: Genetics, QH426-470, Life, QH501-531

File Description: electronic resource

Relation: https://doaj.org/toc/2054-345X

Access URL: https://doaj.org/article/d944f351a5164a32a378e289fbbd4bb4

GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.

Authors: Hirokazu Takeuchi, MD, Norimichi Higurashi, MD, PhD, Hiroshi Kawame, MD, PhD, Tadashi Kaname, MD, PhD, Kumiko Yanagi, DDSc, PhD, Yuichiro Nonaka, MD, PhD, Tatsuya Hirotsu, MD, Satoshi Matsushima, MD, PhD, Tetsuya Shimizu, MD, PhD, Taku Gomi, MD, Nei Fukasawa, MD

Source: Radiology Case Reports, Vol 17, Iss 3, Pp 771-774 (2022)

Subject Terms: Alexander disease, Cavitation, GFAP, Magnetic resonance imaging, White matter, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043321008505; https://doaj.org/toc/1930-0433

Access URL: https://doaj.org/article/8df04b5260404a03bf7243572bd49198

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Authors: Ryosuke Tanaka, Ryo Takeguchi, Mami Kuroda, Nao Suzuki, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi

Source: Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)

Subject Terms: Genetics, QH426-470, Life, QH501-531

File Description: electronic resource

Relation: https://doaj.org/toc/2054-345X

Access URL: https://doaj.org/article/7459aae1a95642c9b3b6c6719db94e34