Toshihiro Tanaka
Toshihiro Tanaka
Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant - a case-based review and variant analysis [0.03%]
PERCC1新双等位基因变异导致的先天性腹泻/肠病-基于病例的回顾与变异分析
Aaqib Zaffar Banday,Ishaq Malik,Anit Kaur et al.
Aaqib Zaffar Banday et al.
Congenital diarrhea/enteropathy due to inherited biallelic defects in the newly discovered gene PERCC1 has been reported in only a few patients thus far. We utilized whole-exome sequencing (WES) to identify a novel PERCC1 stop-gain variant ...
A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype [0.03%]
FRA10AC1新同合子剪接变异：进一步确定表型特征
Mohamed S Abdel-Hamid,Ghada M H Abdel-Salam
Mohamed S Abdel-Hamid
Biallelic variants in FRA10AC1, encoding a component of the spliceosomal C complex that is crucial for functional mRNA processing, have been recently associated with a neurodevelopmental disorder characterized by developmental delay, variab...
Toshihiro Tanaka
Toshihiro Tanaka
Meta-analyses of genome-wide association studies identify novel loci influencing Japanese white matter hyperintensities [0.03%]
全基因组关联研究的荟萃分析确定了影响日本人大脑白质高信号的新位点
Yuya Asanomi,Risa Mitsumori,Akiko Yamakawa et al.
Yuya Asanomi et al.
White matter hyperintensities (WMH) are common findings on brain magnetic resonance imaging (MRI) in older adults and are associated with an increased risk of dementia and stroke. Although large-scale European genome-wide association studie...
A new integrated genetic and transcriptomic approach for investigating DUX4 and DUX4C [0.03%]
一种新的遗传和转录组综合研究DUX4和DUX4C的方法
Zhaohui Zhuang,Mahoko Takahashi Ueda,Kensuke Yamaguchi et al.
Zhaohui Zhuang et al.
The double homeobox 4 gene (DUX4) and its centromeric paralogue, DUX4C, reside in the subtelomeric region of chromosome 4 and have been implicated in facioscapulohumeral muscular dystrophy (FSHD) and cancers. However, the high sequence simi...
Press release guide for genomic research and medicine: a framework co-developed with public contributors in Japan [0.03%]
日本公众参与制定的基因组研究和医学新闻发布指南框架
Misaki Arakawa,Tomoyo Takeuchi,Yusuke Ebana et al.
Misaki Arakawa et al.
Press releases on genomic research play an important role in Japan. Not only do journalists use them as major sources of news stories, but the public also accesses them directly across various media platforms. Given the unique characteristi...
Maternal copy number variations detected by noninvasive prenatal testing in Japanese women [0.03%]
无创产前检测在日本孕妇中发现的母体拷贝数变异
Kaku Masuda,Hiroyuki Mishima,Koh-Ichiro Yoshiura et al.
Kaku Masuda et al.
Non-invasive prenatal testing (NIPT) is a screening method that detects fetal chromosomal trisomies from cell-free DNA in maternal blood. Because NIPT uses whole-genome sequencing with next-generation sequencing for data processing, it can ...
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy [0.03%]
萨卡氏病肌病中规范表达和长散在元件1以及THE1A-外显子化IL23R转录物的异位共表达
Aritoshi Iida,Shunsuke Funaguma,Ichizo Nishino
Aritoshi Iida
Sarcoidosis is a heterogenous inflammatory disease with complex genetic susceptibilities. Multi-ethnic genome-wide association studies have validated the association of sarcoidosis susceptibilities with single nucleotide variants on interle...
A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature [0.03%]
TRPC3基因突变遗传性脊小脑共济失调15型一例及文献复习
Yueying Liu,Miaoxian Xie,Fang Liu et al.
Yueying Liu et al.
Spinocerebellar ataxia type 41 (SCA41) is a rare autosomal dominant cerebellar ataxia caused by mutations in the transient receptor potential canonical 3 (TRPC3) gene. We report a case of a patient with SCA41 whose clinical manifestations w...