Výsledky vyhledávání - "RYO SUMINAGA"

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

Autor: Kayo Adachi, Mariko Yagi, Masafumi Matsuo, Hajime Nakamura, Ryo Suminaga, Yasuhiro Takeshima

Publikováno v: Journal of Human Genetics. 47:196-201

The dystrophin gene, which is mutated in Duchenne muscular dystrophy, is the largest human gene. A full spectrum of the gene transcripts has not been fully elucidated yet, although two cryptic exons have so far been identified in the 5' region of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::405401c0506ff4ed5d68a195d7b10e67
https://doi.org/10.1007/s100380200023

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A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis

Autor: Masafumi Matsuo, Yasuhiro Takeshima, Hajime Nakamura, Ryo Suminaga, Tomomi Minagawa, Suryono Yudha Patria, Ryu Iwasaki

Publikováno v: Brain and Development. 21:386-389

According to the translational reading frame theory, Duchenne muscular dystrophy (DMD) patients harbor out-of-frame deletion mutations in the dystrophin gene. We identified a Japanese DMD case who appeared to have an in-frame deletion of exons 46-54

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::808e032d4914a66722537a0afb707297
https://doi.org/10.1016/s0387-7604(99)00039-x

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Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome

Autor: HIROSHI KAITO, KANDAI NOZU, XUE J. FU, ICHIRO KAMIOKA, TERUO FUJITA, KYOKO KANDA, RAFAL P. KROL, RYO SUMINAGA, AKIHITO ISHIDA, KAZUMOTO IIJIMA, MASAFUMI MATSUO

Publikováno v: Pediatric research. 61(4)

To date, many mutations, including intronic nucleotide changes, in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT) have been reported in Gitelman's syndrome (GS) patients. However, it has not been clarified wheth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b58754c6acdf39a42f3c71363683d4d7
https://pubmed.ncbi.nlm.nih.gov/17414160

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C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene

Autor: Ryo Suminaga, Mariko Yagi, Masafumi Matsuo, Yasuhiro Takeshima, Hiroko Wada

Publikováno v: Pediatric research. 56(5)

Mutations that cause premature stop codons in the dystrophin gene lead to a complete loss of dystrophin from skeletal muscle, resulting in severe Duchenne muscular dystrophy. Here, a C-terminally truncated dystrophin resulting from a novel nonsense m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3429873b428b1210fe53b549d449b27
https://pubmed.ncbi.nlm.nih.gov/15371569

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Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy

Autor: Hiroko Wada, Yasuhiro Takeshima, Ryo Suminaga, Masafumi Matsuo, Hajime Nakamura

Publikováno v: American Journal of Medical Genetics. 92:77-78

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94bdcbade50a81e44c6920edd6577b0
https://doi.org/10.1002/(sici)1096-8628(20000501)92:1<77::aid-ajmg13>3.0.co

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