Commentary on the Austronesian peoples have nothing to do with the so-called "two-layer" model [0.03%]
论南岛语族人与所谓“两层说”风马牛不相不容许任何人以任何方式侵犯知识产权
Albert Min-Shan Ko,Hung-Pin Tu,Ying-Chin Ko
Albert Min-Shan Ko
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders [0.03%]
神经发育障碍中的RNU4-2单等位基因和双等位基因变异
Yukina Hayashi,Kenta Kajiwara,Seiji Mizuno et al.
Yukina Hayashi et al.
The accurate removal of intronic sequences from pre-mRNA by the spliceosome is essential for correct gene expression, with small nuclear RNAs (snRNAs) such as U4 playing structural and regulatory roles in catalyzing this. De novo variants i...
Rebuttal Letter: Response to Albert Min-Shan Ko, Hung-Pin Tu and Ying-Chin Ko, "Genetic insights into the origin, admixture, and migration of the early Austronesian peoples" [0.03%]
驳论信：回应阿尔伯特·敏山·柯、洪斌·图和应琴·柯的“关于早期南岛民族起源、混合及迁徙的基因见解”
Hirofumi Matsumura,Hsiao-Chun Hung,Peter Bellwood
Hirofumi Matsumura
TMEM53 as an outer nuclear membrane regulator of cranial and tubular bone formation in craniotubular dysplasia [0.03%]
TMEM53作为颅骨和管状骨形成的外核膜调节因子在颅缝早闭症中的作用
Kaitao Ren,Yiyang Fu,Jinhui Zhu et al.
Kaitao Ren et al.
Transmembrane protein 53 (TMEM53) is an outer nuclear membrane protein that plays a crucial role in maintaining skeletal homeostasis. Pathogenic variants in TMEM53 have been identified as the genetic cause of craniotubular dysplasia, Ikegaw...
Genome and transcriptome-wide association studies identify multiple novel loci for dementia with grain in Japanese [0.03%]
全基因组和转录组关联研究在日本人中鉴定出多个与痴呆相关的新的易感位点
Risa Mitsumori,Kouichi Ozaki,Yuko Saito et al.
Risa Mitsumori et al.
Argyrophilic grain (AG) is a common neurodegenerative accumulation of 4 repeat tau in dendritic spine. Dementia with grain (DG) is defined as AGs with a sole pathological basis for cognitive decline. As with other multifactorial diseases, D...
Polygenic and single-locus selection on BMI during Polynesian expansion [0.03%]
波利尼西亚扩张期间的多基因和单基因对BMI的选择作用
Hanako Miwa,Mariko Isshiki,Izumi Naka et al.
Hanako Miwa et al.
The 'thrifty' variant hypothesis, which posits that certain genetic adaptations promoting efficient energy storage during periods of food scarcity, has been invoked to explain the high prevalence of obesity in modern human populations. Alth...
Yoichi Wada,Yu Aihara,Yasuko Mikami-Saito et al.
Yoichi Wada et al.
Galactose, a monosaccharide, plays diverse biological roles in energy production, especially in the glycolysis and glycosylation of proteins and lipids. Galactose metabolism is mediated by the Leloir pathway, which comprises four key enzyme...
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing [0.03%]
中国疑似儿童NF1患者的基因特征研究：采用优化全外显子测序的大规模研究
Kaiyu Wang,Miao Jing,Jun Mao et al.
Kaiyu Wang et al.
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with broad clinical variability, making diagnosis in pediatric patients particularly challenging due to age-dependent penetrance and variable expressivity. In this study...
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion [0.03%]
由新颖的外显子联合PUS1缺失引起的呼吸链复合物I缺陷
Jun-Hui Yuan,Yujiro Higuchi,Masahiro Ando et al.
Jun-Hui Yuan et al.
Myopathy, lactic acidosis, and sideroblastic anemia type 1 (MLASA1) is an extremely rare mitochondrial disorder caused by biallelic pathogenic variants in PUS1, which encodes a mitochondrial tRNA pseudouridine synthase essential for mitocho...
Functional analysis of AKT1 knockout in fibrosarcoma cells using CRISPR/Cas9 technology [0.03%]
CRISPR/Cas9技术在裸纤维肉瘤细胞中构建AKT1敲除系及其功能分析
So-Hee Kim,Moon-Moo Kim
So-Hee Kim
AKT1 (Protein Kinase B alpha) is a serine/threonine kinase that plays a pivotal role in regulating various cellular processes. To elucidate the role of the AKT1 gene in signaling pathways, this study generated AKT1 knockout (KO) HT-1080 cel...