Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome [0.03%]
MED16双等位基因变异干扰神经发育并导致智力障碍综合征
Yan Huang,Zhenglong Xiang,Yaqin Xiang et al.
Yan Huang et al.
Mediator Complex Subunit 16 (MED16, MIM: 604062) is a member of the Mediator complex which controls many aspects of transcriptional activity in all eukaryotes. Here, we report two individuals from a non-consanguineous family with biallelic ...
Mammary stem cells: molecular cues, orchestrated regulatory mechanisms and its implications in breast cancer [0.03%]
乳腺癌干细胞：分子信号、调控机制及其在乳腺肿瘤发生中的作用
Mengna Zhang,Lingxian Zhang,Jie Liu et al.
Mengna Zhang et al.
Mammary stem cells (MaSCs), endowed with self-renewal and multilineage differentiation capabilities, are crucial for mammary gland development, function, and disease initiation. Recent advances in MaSCs biology research encompass molecular ...
Harnessing lysosomal genetics: development of a risk stratification panel and unveiling of DPP7 as a biomarker for colon adenocarcinoma [0.03%]
利用溶酶体遗传学开发风险评估模型并发现DPP7是结肠腺癌生物标志物
Zhengdong Luo,Yanlei Wang,Shunjie Zeng et al.
Zhengdong Luo et al.
Lysosomal dysfunction has been implicated in the progression of colon adenocarcinoma (COAD), yet the prognostic significance and therapeutic potential of lysosome-related genes (LRGs) remain underexplored. In this study, we construct a 6-LR...
Loss of lims1 causes aberrant cardiac remodeling and heart failure via activating gp130/Jak1/Stat3 pathway in zebrafish [0.03%]
Lims1缺失通过激活gp130/Jak1/Stat3信号通路引起斑马鱼心脏重构和心力衰竭
Wuming Qin,Xiaobo Yang,Lu Zhang et al.
Wuming Qin et al.
LIM zinc finger domain containing 1 (LIMS1), an evolutionally conserved LIM domain adaptor protein, is implicated in diverse pathologies, including cancer and neurological disorders. However, its roles in cardiac diseases and the underlying...
Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights [0.03%]
深度测序揭示MOGHE中SLC35A2体细胞变异：分子和临床见解
Huaxia Luo,Xiaoqin Ruan,Xianyu Liu et al.
Huaxia Luo et al.
Integrated genomic and transcriptomic analyses reveal the genetic and molecular mechanisms underlying hawthorn peel color and seed hardness diversity [0.03%]
集成基因组和转录组分析揭示山楂果皮颜色和种子硬度多样性背后的遗传及分子机制
Jiaxin Meng,Yan Wang,Rongkun Guo et al.
Jiaxin Meng et al.
Hawthorn (Crataegus pinnatifida) fruit peel color and seed hardness are key traits that significantly impact economic value. We present here the high-quality chromosome-scale genomes of two cultivars, including the hard-seed, yellow-peel C....
De-Qiang Li,Xiao-Ling Liu,Meng Yuan et al.
De-Qiang Li et al.
Flower-infecting fungi have caused many economically important diseases in crop production. The fungal pathogen Ustilaginoidea virens infects developing rice florets, causing false smut disease, which leads to reduced grain yield and qualit...
Multiple nucleotide variants in genetic diagnosis: implications from 11,467 cases of hearing loss [0.03%]
遗传诊断中多核苷酸变异的解读：11467例听力损失患者的启示
Fandi Ai,Jiayi Zeng,Qian Zhang et al.
Fandi Ai et al.
Multiple nucleotide variants (MNVs) are frequently misannotated as separate single-nucleotide variants (SNVs) by widely utilized variant-calling pipelines, presenting substantial challenges in genetic testing and research. The role of MNVs ...
Structural variation-based and gene-based pangenome construction reveals untapped diversity of hexaploid wheat [0.03%]
基于结构变异和基因的泛基因组构建揭示了六倍体小麦的未开发多样性
Hong Cheng,Lingpeng Kong,Kun Zhu et al.
Hong Cheng et al.
Increasing number of structural variations (SVs) have been identified as causative mutations for diverse agronomic traits. However, the systematic exploration of SVs quantity, distribution and contribution in wheat was lacking. Here, we rep...
Annotation and assessment of functional variants in livestock through epigenomic data [0.03%]
通过表观基因组数据对畜禽功能变异进行注释和评估
Ruixian Ma,Renzhuo Kuang,Jingcheng Zhang et al.
Ruixian Ma et al.
Understanding genetic variant functionality is essential for advancing animal genomics and precision breeding. However, the lack of comprehensive functional genomic annotations in animals limits the effectiveness of most variant function as...