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Akademický článek

Characteristic craniofacial defects associated with a novel USP9X truncation mutation

Autor: Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro

Publikováno v: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)

Abstract Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with

Externí odkaz: https://doaj.org/article/b9393595a854481382cc04985167cc60

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Akademický článek

Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder

Autor: Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)

Abstract GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a mosaic state in a patient with short stature, seizures, delayed myelination, mild hearing loss

Externí odkaz: https://doaj.org/article/6f129f5d0b704eb3a0575142992aadfe

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Akademický článek

Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)

Abstract Cardiac sarcoidosis (CS) is the scarring of heart muscles by autoimmunity, leading to heart abnormalities and patients with sarcoidosis with cardiac involvements have poor prognoses. Due to the small number of patients, it is difficult to st

Externí odkaz: https://doaj.org/article/bad5efcab01a4fec982fe5fa0b2c6799

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Akademický článek

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

Autor: Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo

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

Abstract We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperexten

Externí odkaz: https://doaj.org/article/63f7d5ce849d459d832de890c1b99d1a

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Akademický článek

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Autor: Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba, Yasuo Aihara, Yuuki Hasegawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Satoru Nagata, Toshiyuki Yamamoto

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

Abstract Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (MIM # 618092) is a congenital disorder derived from pathogenic variants of the B-cell leukemia/lymphoma 11B gene (BCL11B). Several variants h

Externí odkaz: https://doaj.org/article/29ef0b91f46845918ebc8ee21f3bec24

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Akademický článek

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Autor: Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo

Publikováno v: Human Genome Variation, Vol 9, Iss 1, Pp 1-6 (2022)

Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnorma

Externí odkaz: https://doaj.org/article/b4113a2a404e4759b2900d95661efd41

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Akademický článek

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Autor: Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Osamu Segawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Satoru Nagata, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)

Abstract A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and fre

Externí odkaz: https://doaj.org/article/600e11a0285f4005985f092f5858fa45

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Akademický článek

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Autor: Keiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, Yusaku Miyamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Toshiyuki Yamamoto

Publikováno v: Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)

Abstract A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The

Externí odkaz: https://doaj.org/article/7b4b5f1712354bf28cefbb8ecf7d6500

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