Human Genome Variation最新文献_第7页

A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene. 从一名患有发烧引发的反复急性肝功能衰竭的婴儿身上发现的 NBAS 基因新型变体破坏了该基因的功能。

IF 1.5

Human Genome Variation Pub Date : 2023-04-13 DOI: 10.1038/s41439-023-00241-0

Juhua Ji, Mingming Yang, JunJun Jia, Qi Wu, Ruochen Cong, Hengxiang Cui, Baofeng Zhu, Xin Chu

{"title":"A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene.","authors":"Juhua Ji, Mingming Yang, JunJun Jia, Qi Wu, Ruochen Cong, Hengxiang Cui, Baofeng Zhu, Xin Chu","doi":"10.1038/s41439-023-00241-0","DOIUrl":"10.1038/s41439-023-00241-0","url":null,"abstract":"Mutations in the neuroblastoma amplified sequence (NBAS) gene correlate with infantile acute liver failure (ALF). Herein, we identified a novel NBAS mutation in a female infant diagnosed with recurrent ALF. Whole-exome and Sanger sequencing revealed that the proband carried a compound heterozygous mutation (c.938_939delGC and c.1342 T > C in NBAS). NBAS c.938_939delGC was presumed to encode a truncated protein without normal function, whereas NBAS c.1342 T > C encoded NBAS harboring the conserved Cys448 residue mutated to Arg448 (p.C448R). The proportion of CD4 + T cells decreased in the patient's peripheral CD45 + cells, whereas that of CD8 + T cells increased. Moreover, upon transfecting the same amount of DNA expression vector (ectopic expression) encoding wild-type NBAS and p.C448R NBAS, the group transfected with the p.C448R NBAS-expressing vector expressed less NBAS mRNA and protein. Furthermore, ectopic expression of the same amount of p.C448R NBAS protein as the wild-type resulted in more intracellular reactive oxygen species and the induction of apoptosis and expression of marker proteins correlating with endoplasmic reticulum stress in more cultured cells. This study indicated that p.C448R NBAS has a function different from that of wild-type NBAS and that the p.C448R NBAS mutation potentially affects T-cell function and correlates with ALF.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10102179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9314776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan. 日本公众对云计算的态度以及为医疗保健研究共享个人健康记录（PHR）和基因组数据的意愿。

IF 1.5

Human Genome Variation Pub Date : 2023-03-30 DOI: 10.1038/s41439-023-00240-1

Mayumi Kusunose, Kaori Muto

{"title":"Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan.","authors":"Mayumi Kusunose, Kaori Muto","doi":"10.1038/s41439-023-00240-1","DOIUrl":"10.1038/s41439-023-00240-1","url":null,"abstract":"Japan's government aims to promote the linkage of medical records, including medical genomic testing data and personal health records (PHRs), via cloud computing (the cloud). However, linking national medical records and using them for health care research can be controversial. Additionally, many ethical issues with using cloud networks with health care and genome data have been noted. However, no research has yet explored the Japanese public's opinions about their PHRs, including genome data, being shared for health care research or the use of the cloud for storing and analyzing such data. Therefore, we conducted a survey in March 2021 to clarify the public's attitudes toward sharing their PHRs, including genome data and using the cloud for health care research. We analyzed data to experimentally create digital health basic literacy scores (BLSs). Our results showed that the Japanese public had concerns about data sharing that overlapped with structural cloud computing issues. The effect of incentives on changes in participants' willingness to share data (WTSD) was limited. Instead, there could be a correlation between WTSD and BLSs. Finally, we argue that it is vital to consider not only researchers but also research participants as value cocreators in health care research conducted through the cloud to overcome both parties' vulnerability.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9229472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia. 带有5-八肽重复序列的遗传性克雅氏病表现为额颞叶痴呆症。

IF 1.5

Human Genome Variation Pub Date : 2023-03-29 DOI: 10.1038/s41439-023-00237-w

Shinsuke Hamada, Ikuko Takahashi-Iwata, Katsuya Satoh, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Fumio Moriwaka, Ichiro Yabe

引用次数: 1

A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene. 一例由 DCN 基因新型变异体 c.953del 引起的小儿先天性角膜基质营养不良症。

IF 1.5

Human Genome Variation Pub Date : 2023-03-24 DOI: 10.1038/s41439-023-00239-8

Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta

引用次数: 0

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. 日本脱水型遗传性口腔细胞增多症患者 PIEZO1 和 KCNN4 的变异谱。

IF 1.5

Human Genome Variation Pub Date : 2023-03-02 DOI: 10.1038/s41439-023-00235-y

Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto, Hitoshi Kanno

引用次数: 0

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature. SHQ1相关神经发育障碍：报告首例非亲属关系患者的同基因变异并回顾文献。

IF 1.5

Human Genome Variation Pub Date : 2023-02-22 DOI: 10.1038/s41439-023-00234-z

Aljouhra AlHargan, Mohammed A AlMuhaizea, Rawan Almass, Ali H Alwadei, Maha Daghestani, Stefan T Arold, Namik Kaya

{"title":"SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.","authors":"Aljouhra AlHargan, Mohammed A AlMuhaizea, Rawan Almass, Ali H Alwadei, Maha Daghestani, Stefan T Arold, Namik Kaya","doi":"10.1038/s41439-023-00234-z","DOIUrl":"10.1038/s41439-023-00234-z","url":null,"abstract":"Compound heterozygous mutations in SHQ1 have been associated with a rare and severe neurological disorder characterized by global developmental delay (GDD), cerebellar degeneration coupled with seizures, and early-onset dystonia. Currently, only five affected individuals have been documented in the literature. Here, we report three children from two unrelated families harboring a homozygous variant in the gene but with a milder phenotype than previously described. The patients had GDD and seizures. Magnetic resonance imaging analyses revealed diffuse white matter hypomyelination. Sanger sequencing confirmed the whole-exome sequencing results and revealed full segregation of the missense variant (SHQ1:c.833 T > C; p.I278T) in both families. We performed a comprehensive in silico analysis using different prediction classifiers and structural modeling of the variant. Our findings demonstrate that this novel homozygous variant in SHQ1 is likely to be pathogenic and leads to the clinical features observed in our patients.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10823014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Design and implementation of a hybrid cloud system for large-scale human genomic research. 为大规模人类基因组研究设计和实施混合云系统。

IF 1.5

Human Genome Variation Pub Date : 2023-02-08 DOI: 10.1038/s41439-023-00231-2

Masao Nagasaki, Yayoi Sekiya, Akihiro Asakura, Ryo Teraoka, Ryoko Otokozawa, Hiroki Hashimoto, Takahisa Kawaguchi, Keiichiro Fukazawa, Yuichi Inadomi, Ken T Murata, Yasuyuki Ohkawa, Izumi Yamaguchi, Takamichi Mizuhara, Katsushi Tokunaga, Yuji Sekiya, Toshihiro Hanawa, Ryo Yamada, Fumihiko Matsuda

{"title":"Design and implementation of a hybrid cloud system for large-scale human genomic research.","authors":"Masao Nagasaki, Yayoi Sekiya, Akihiro Asakura, Ryo Teraoka, Ryoko Otokozawa, Hiroki Hashimoto, Takahisa Kawaguchi, Keiichiro Fukazawa, Yuichi Inadomi, Ken T Murata, Yasuyuki Ohkawa, Izumi Yamaguchi, Takamichi Mizuhara, Katsushi Tokunaga, Yuji Sekiya, Toshihiro Hanawa, Ryo Yamada, Fumihiko Matsuda","doi":"10.1038/s41439-023-00231-2","DOIUrl":"10.1038/s41439-023-00231-2","url":null,"abstract":"In the field of genomic medical research, the amount of large-scale information continues to increase due to advances in measurement technologies, such as high-performance sequencing and spatial omics, as well as the progress made in genomic cohort studies involving more than one million individuals. Therefore, researchers require more computational resources to analyze this information. Here, we introduce a hybrid cloud system consisting of an on-premise supercomputer, science cloud, and public cloud at the Kyoto University Center for Genomic Medicine in Japan as a solution. This system can flexibly handle various heterogeneous computational resource-demanding bioinformatics tools while scaling the computational capacity. In the hybrid cloud system, we demonstrate the way to properly perform joint genotyping of whole-genome sequencing data for a large population of 11,238, which can be a bottleneck in sequencing data analysis. This system can be one of the reference implementations when dealing with large amounts of genomic medical data in research centers and organizations.","PeriodicalId":36861,"journal":{"name":"Human Genome Variation","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2023-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10687882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy. 一名女性发育性癫痫脑病患者的 GRIA3 p.Met661Thr 变异。

IF 1.5

Human Genome Variation Pub Date : 2023-02-02 DOI: 10.1038/s41439-023-00232-1

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

引用次数: 0

Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family. 通过外显子测序在一个家族中发现阿尔波特综合征和单基因糖尿病的致病变异。

IF 1.5

Human Genome Variation Pub Date : 2023-02-02 DOI: 10.1038/s41439-023-00233-0

Hirofumi Watanabe, Shin Goto, Michihiro Hosojima, Hideyuki Kabasawa, Naofumi Imai, Yumi Ito, Ichiei Narita

引用次数: 0

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia. 日本一例非综合征性少齿畸形患者的新型 WNT10A 变异。

IF 1.5

Human Genome Variation Pub Date : 2023-01-26 DOI: 10.1038/s41439-023-00230-3

Junya Adachi, Yoshihiko Aoki, Hiroto Izumi, Takeshi Nishiyama, Atsuo Nakayama, Masatoshi Sana, Kyoko Morimoto, Atsuo Kaetsu, Takamasa Shirozu, Eriko Osumi, Michiko Matsuoka, Eri Hayakawa, Nasel Maeda, Junichiro Machida, Toru Nagao, Yoshihito Tokita

引用次数: 0