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  1. Article ; Online: RILPL1-related OPDM is absent in a Japanese cohort.

    Eura, Nobuyuki / Iida, Aritoshi / Ogasawara, Masashi / Hayashi, Shinichiro / Noguchi, Satoru / Nishino, Ichizo

    American journal of human genetics

    2022  Volume 109, Issue 11, Page(s) 2088–2089

    MeSH term(s) Humans ; Japan ; Cohort Studies
    Language English
    Publishing date 2022-11-04
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2022.10.005
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  2. Article ; Online: Malignant hyperthermia and cylindrical spirals in a 4-year-old boy.

    Ogasawara, Masashi / Saitoh, Shinji / Nishimori, Yukako / Hayashi, Shinichiro / Iida, Aritoshi / Noguchi, Satoru / Nishino, Lchizo

    Neuromuscular disorders : NMD

    2022  Volume 32, Issue 10, Page(s) 845–846

    MeSH term(s) Male ; Humans ; Child, Preschool ; Malignant Hyperthermia/diagnosis
    Language English
    Publishing date 2022-09-21
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2022.09.006
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  3. Article ; Online: Novel CLOCK and NR1D2 variants in 64 sighted Japanese individuals with non-24-hour sleep-wake rhythm disorder.

    Hida, Akiko / Iida, Aritoshi / Ukai, Motoki / Kadotani, Hiroshi / Uchiyama, Makoto / Ebisawa, Takashi / Inoue, Yuichi / Kitamura, Shingo / Mishima, Kazuo

    Sleep

    2023  Volume 46, Issue 6

    MeSH term(s) Humans ; Circadian Rhythm ; East Asian People ; Melatonin ; Receptors, Cytoplasmic and Nuclear/genetics ; Repressor Proteins/genetics ; Sleep ; Sleep Disorders, Circadian Rhythm/genetics ; CLOCK Proteins/genetics
    Chemical Substances Melatonin (JL5DK93RCL) ; NR1D2 protein, human ; Receptors, Cytoplasmic and Nuclear ; Repressor Proteins ; CLOCK protein, human (EC 2.3.1.48) ; CLOCK Proteins (EC 2.3.1.48)
    Language English
    Publishing date 2023-03-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 424441-2
    ISSN 1550-9109 ; 0161-8105
    ISSN (online) 1550-9109
    ISSN 0161-8105
    DOI 10.1093/sleep/zsad063
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  4. Article ; Online: Causative variant profile of collagen VI-related dystrophy in Japan.

    Inoue, Michio / Saito, Yoshihiko / Yonekawa, Takahiro / Ogawa, Megumu / Iida, Aritoshi / Nishino, Ichizo / Noguchi, Satoru

    Orphanet journal of rare diseases

    2021  Volume 16, Issue 1, Page(s) 284

    Abstract: Background: Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causative ... ...

    Abstract Background: Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causative variants are de novo; therefore, to identify possible associated causative variants, comprehensive large cohort studies are required for different ethnicities.
    Methods: We retrospectively reviewed clinical information, muscle histology, and genetic analyses from 147 Japanese patients representing 130 families, whose samples were sent for diagnosis to the National Center of Neurology and Psychiatry between July 1979 and January 2020. Genetic analyses were conducted by gene-based resequencing, targeted panel resequencing, and whole exome sequencing, in combination with cDNA analysis.
    Results: Of a total of 130 families with 1-5 members with collagen VI-related dystrophy, 120 had mono-allelic and 10 had bi-allelic variants in COL6A1, COL6A2, or COL6A3. Among them, 60 variants were in COL6A1, 57 in COL6A2, and 23 in COL6A3, including 37 novel variants. Mono-allelic variants were classified into four groups: missense (69, 58%), splicing (40, 33%), small in-frame deletion (7, 6%), and large genomic deletion (4, 3%). Variants in the triple helical domains accounted for 88% (105/120) of all mono-allelic variants.
    Conclusions: We report the causative variant profile of a large set of Japanese cases of collagen VI-related dystrophy. This dataset can be used as a reference to support genetic diagnosis and variant-specific treatment.
    MeSH term(s) Collagen Type VI/genetics ; Humans ; Japan ; Muscular Dystrophies/genetics ; Mutation ; Retrospective Studies ; Sequence Deletion
    Chemical Substances Collagen Type VI
    Language English
    Publishing date 2021-06-24
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/s13023-021-01921-2
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  5. Article ; Online: Causative variant profile of collagen VI-related dystrophy in Japan

    Michio Inoue / Yoshihiko Saito / Takahiro Yonekawa / Megumu Ogawa / Aritoshi Iida / Ichizo Nishino / Satoru Noguchi

    Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

    2021  Volume 13

    Abstract: Abstract Background Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causative ... ...

    Abstract Abstract Background Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Most reported causative variants are de novo; therefore, to identify possible associated causative variants, comprehensive large cohort studies are required for different ethnicities. Methods We retrospectively reviewed clinical information, muscle histology, and genetic analyses from 147 Japanese patients representing 130 families, whose samples were sent for diagnosis to the National Center of Neurology and Psychiatry between July 1979 and January 2020. Genetic analyses were conducted by gene-based resequencing, targeted panel resequencing, and whole exome sequencing, in combination with cDNA analysis. Results Of a total of 130 families with 1–5 members with collagen VI-related dystrophy, 120 had mono-allelic and 10 had bi-allelic variants in COL6A1, COL6A2, or COL6A3. Among them, 60 variants were in COL6A1, 57 in COL6A2, and 23 in COL6A3, including 37 novel variants. Mono-allelic variants were classified into four groups: missense (69, 58%), splicing (40, 33%), small in-frame deletion (7, 6%), and large genomic deletion (4, 3%). Variants in the triple helical domains accounted for 88% (105/120) of all mono-allelic variants. Conclusions We report the causative variant profile of a large set of Japanese cases of collagen VI-related dystrophy. This dataset can be used as a reference to support genetic diagnosis and variant-specific treatment.
    Keywords Collagen VI-related dystrophy ; Ullrich congenital muscular dystrophy ; Bethlem myopathy ; Sarcolemma-specific collagen VI deficiency ; cDNA analysis ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.

    Ogasawara, Masashi / Eura, Nobuyuki / Iida, Aritoshi / Kumutpongpanich, Theerawat / Minami, Narihiro / Nonaka, Ikuya / Hayashi, Shinichiro / Noguchi, Satoru / Nishino, Ichizo

    Acta neuropathologica communications

    2022  Volume 10, Issue 1, Page(s) 176

    Abstract: Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of their myopathological features. To address the diagnostic gap, we evaluated the muscle biopsy samples for ... ...

    Abstract Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of their myopathological features. To address the diagnostic gap, we evaluated the muscle biopsy samples for p62 expression by immunohistochemistry and compared the occurrence and the frequency of intranuclear inclusions among the individuals with OPDM (harboring CGG repeat expansion in LRP12 (n = 19), GIPC1 (n = 6), or NOTCH2NLC (n = 7)), OPMD (n = 15), and other rimmed vacuolar myopathies. We found that myonuclei with p62-positive intra-nuclear inclusions (myo-INIs) were significantly more frequent in OPMD (11.9 ± 1.1%, range 5.9-18.6%) than in OPDM and other rimmed vacuolar myopathies (RVMs) (0.9-1.5% on average, range 0.0-2.8%, p < 0.0001). In contrast, INIs in non-muscle cells such as blood vessels, peripheral nerve bundles, and muscle spindles (non-muscle-INIs) were present in OPDM, but absent in OPMD. These results indicate that OPMD can be differentiated from OPDM and other RVMs by the frequent presence of myo-INIs; and in OPDM, the presence of non-muscle-INIs in muscle pathology should be a diagnostic hallmark.
    MeSH term(s) Humans ; Muscular Dystrophy, Oculopharyngeal/diagnosis ; Intranuclear Inclusion Bodies
    Language English
    Publishing date 2022-12-07
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2715589-4
    ISSN 2051-5960 ; 2051-5960
    ISSN (online) 2051-5960
    ISSN 2051-5960
    DOI 10.1186/s40478-022-01482-w
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  7. Article ; Online: Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report.

    Matsubara, Tomoyasu / Saito, Yuko / Kurashige, Takashi / Higashihara, Mana / Hasegawa, Fumio / Ogasawara, Masashi / Iida, Aritoshi / Nishino, Ichizo / Adachi, Tadashi / Kubota, Akatsuki / Murayama, Shigeo

    eNeurologicalSci

    2021  Volume 24, Page(s) 100348

    Language English
    Publishing date 2021-06-04
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2838045-9
    ISSN 2405-6502 ; 2405-6502
    ISSN (online) 2405-6502
    ISSN 2405-6502
    DOI 10.1016/j.ensci.2021.100348
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  8. Article ; Online: A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding.

    Tabata, Kenshiro / Iida, Aritoshi / Takeshita, Eri / Nakagawa, Eiji / Sato, Noriko / Sasaki, Masayuki / Inoue, Ken / Goto, Yu-Ichi

    Journal of the neurological sciences

    2020  Volume 412, Page(s) 116758

    MeSH term(s) Abnormalities, Multiple ; Arnold-Chiari Malformation ; Cerebellum ; Humans ; Intellectual Disability ; NFI Transcription Factors ; Rhombencephalon
    Chemical Substances NFI Transcription Factors ; NFIX protein, human
    Language English
    Publishing date 2020-02-22
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2020.116758
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  9. Article: TNNI1

    Nishimori, Yukako / Iida, Aritoshi / Ogasawara, Masashi / Okubo, Mariko / Yonenobu, Yuki / Kinoshita, Makoto / Sugie, Kazuma / Noguchi, Satoru / Nishino, Ichizo

    Neurology. Genetics

    2021  Volume 8, Issue 1, Page(s) e649

    Abstract: Objectives: The main objective of this case report is to identify a gene associated with a Japanese family with autosomal dominant arthrogryposis.: Methods: We performed clinicopathologic diagnosis and genomic analysis using trio-based exome ... ...

    Abstract Objectives: The main objective of this case report is to identify a gene associated with a Japanese family with autosomal dominant arthrogryposis.
    Methods: We performed clinicopathologic diagnosis and genomic analysis using trio-based exome sequencing.
    Results: A 14-year-old boy had contractures in the proximal joints, and the serum creatine kinase level was elevated. Muscle biopsy demonstrated a moth-eaten appearance in some type 1 fibers, and electron microscopic analysis revealed that type 1 fibers had Z disk streaming. We identified a heterozygous nonsense variant, c.523A>T (p.K175*), in
    Discussion: The altered amino acid residue is within the tropomyosin-binding site near the C-terminus, in a region homologous to the variational hotspot of Troponin I2 (TNNI2), which is associated with distal arthrogryposis type 1 and 2b. Compared with patients with
    Language English
    Publishing date 2021-12-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000000649
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  10. Article: A novel compound heterozygous variant of

    Uchino, Shumpei / Iida, Aritoshi / Sato, Atsushi / Ishikawa, Keiko / Mimaki, Masakazu / Nishino, Ichizo / Goto, Yu-Ichi

    Human genome variation

    2019  Volume 6, Page(s) 19

    Abstract: Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations ... ...

    Abstract Leigh syndrome (LS) is a heterogeneous neurodegenerative disorder caused by mitochondrial dysfunction. Certain LS cases have mutations in
    Language English
    Publishing date 2019-04-19
    Publishing country England
    Document type Journal Article
    ISSN 2054-345X
    ISSN 2054-345X
    DOI 10.1038/s41439-019-0050-1
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