Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies [0.03%]
泛基因组功能注释及剪接变异解读：以RNA为目标的疗法研究
Tomonari Awaya,Ryo Kurosawa,Masatoshi Hagiwara
Tomonari Awaya
Splice-disruptive variants represent an underrecognized yet critical category of disease-causing mutations. While canonical splice site disruptions have long been associated with genetic disorders, it is now increasingly evident that synony...
Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2 [0.03%]
解析同义变异SEC24D对Cole-Carpenter综合征2型异常剪接影响的机制研究
Suzan Süncak,Beyhan Tüysüz,Ravza Nur Yıldırım et al.
Suzan Süncak et al.
SEC24D is a key component of the Coat Protein Complex II, which plays a critical role in the selective sorting and transport of cargo proteins from the endoplasmic reticulum. This function is particularly essential for the secretion of extr...
Shobbir Hussain
Shobbir Hussain
Classical twin studies can be used to disentangle the extent to which phenotypic variance of a given complex trait is determined by genetic and environmental variance. The designs widely employ 'ACDE' structural equation models where partit...
Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact [0.03%]
Gardos通道病：KCNN4突变的新见解及其临床影响
Prashant Warang,Pradnya Dehadrai,Neha Samanpalliwar et al.
Prashant Warang et al.
Gardos channelopathies are rare hereditary hemolytic anaemias caused by mutations in the KCNN4 gene, which encodes the calcium-activated potassium channel (KCa3.1) in red blood cells. In this study, we report three unrelated Indian patients...
A comprehensive assessment of pharmacogenomic annotation tools for next-generation sequencing data: an emphasis on cyp2d6 and vietnamese genomic data [0.03%]
一种针对下一代测序数据的药理基因组注解工具的全面评估：以CYP2D6和越南人群基因组为例
Thien Khac Nguyen,Cuong Tri Pham,Tham Hoang et al.
Thien Khac Nguyen et al.
Next-generation sequencing (NGS) offers a fast, cost-effective, and scalable solution for pharmacogenomic allele assignment but faces challenges in accurately identifying variants and haplotypes in regions with high sequence similarity. Thi...
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study [0.03%]
β-微管蛋白病的遗传和临床谱系扩展：一项韩国研究
Soojin Hwang,Hyunwoo Bae,Dohyung Kim et al.
Soojin Hwang et al.
Tubulin proteins form microtubules, which are critical for neuronal cell migration. In humans, there are at least 27 tubulin genes. Pathogenic variants in these genes cause tubulinopathies, which are characterized by diverse neurodevelopmen...
Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant [0.03%]
由新型致病性PRKD1基因变异引起的CHDED综合征家族病例中tetralogy of fallot和颅缝早闭的差异表现
Prachi Sandeep Oza,Anusha Uttarilli,K T Shreya Parthasarathi et al.
Prachi Sandeep Oza et al.
Congenital heart disease and ectodermal dysplasia syndrome (CHDED syndrome) (MIM: 617364) is an autosomal dominant disorder cause by PRKD1 gene pathogenic variants, characterised mainly by congenital heart defects (CHD) and ectodermal dyspl...
Clinical characteristics and hearing impairment in carriers of the m.3243 A > G variant [0.03%]
m.3243 A>G 基因型携带者的临床特征和听力损伤状况
Natsumi Uehara,Takeshi Fujita,Keiichiro Uehara et al.
Natsumi Uehara et al.
The m.3243 A > G mitochondrial DNA variant is a major pathogenic variant associated with various clinical phenotypes, including hearing impairment and diabetes. This study retrospectively analyzed clinical data from 37 patients with the m.3...
Germline or somatic mutations in genes encoding microRNAs as biomarkers predicting the risk of adult T-cell leukemia/lymphoma [0.03%]
遗传或体细胞基因编码的微小RNA变异作为预测成人T细胞白血病/淋巴瘤风险的生物标志物
Shimon Nakashima,Masataka Nakano,Tatsuki Fukami et al.
Shimon Nakashima et al.
Single nucleotide polymorphisms in microRNA genes (miRNA-SNPs) can alter miRNA maturation or target mRNA recognition, resulting in gain- or loss-of-function, and are associated with various diseases. This study aimed to identify miRNA-SNPs ...
NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosis [0.03%]
NOL10变异干扰核糖体生成并导致海马硬化
Abhishek Kumar,Vishal Gaurav,Yogendra Pratap Mathuria et al.
Abhishek Kumar et al.
Early-onset hippocampal sclerosis is a major cause of focal epilepsy, yet many genetic contributors remain unknown. We investigate a 12-year-old girl with recurrent focal seizures, progressive memory impairment, and MRI evidence of left hip...