From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis [0.03%]
从生殖细胞变异到肿瘤预后：基于GWAS的基因功能组学优先确定结直肠癌易感基因并发现SMAD9与预后有关
Chengguang Hu,Guang Yang,Han Xiong et al.
Chengguang Hu et al.
Introduction: Genome-wide association studies (GWAS) have identified over 200 germline risk loci for colorectal cancer (CRC), yet the causal variants and genes behind most GWAS signals remain unknown and the link between ...
Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer [0.03%]
胃癌中突变免疫交叉对话赋予CAFs相关ARPC1A程序及顺铂反应特征
Deyi Lu,Fanlai Meng,Weiying Zhou et al.
Deyi Lu et al.
Cisplatin response in gastric cancer is shaped by malignant cell programs, stromal states, and mutation-immune crosstalk, but the CAF subtypes linked to platinum tolerance and their epithelial effectors remain incompletely defined. We integ...
Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing [0.03%]
通过全基因组测序在家族性腺瘤性息肉病中识别新的致病变异体
Sung-Ryung Choi,Min Jung Kim,Ja-Lok Ku et al.
Sung-Ryung Choi et al.
Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal cancer predisposition syndrome most commonly caused by pathogenic variants in the APC gene. Although targeted gene panel sequencing is routinely used, some FAP cases r...
A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/ β-Spectrin Interaction in Hereditary Spherocytosis [0.03%]
遗传性球形红细胞增多症中破坏Ankyrin-1/β- spectrin相互作用的致病ANK1 c. 5096G>A突变
Xu Linglong,Gao Jingwen,Zhu Wenting et al.
Xu Linglong et al.
Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by spherical erythrocytes, splenomegaly, and increased osmotic fragility, with ANK1 mutations being the most frequent cause. We identified a novel ANK1 mutat...
A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta [0.03%]
COL1A1基因新型剪接变异导致外显子46跳跃和成骨不全症
Yujun Zhang,Huibing Liu,Ailan Yin et al.
Yujun Zhang et al.
Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder characterised by bone fragility, growth deficiency and skeletal deformity. Ninety per cent of OI cases are attributable to autosomal dominant var...
Case Reports
Human mutation. 2026 Aug 18:2026:2249583. DOI:10.1155/humu/2249583 2026
Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype [0.03%]
MSX2上游两个无关家庭的非编码重复序列向上游扩展，进一步精确定义颅骨发育和类似克兰唐氏综合征表型的关键调控区域
Mamiko Yamada,Mark Cleghorn,Prabhakara Krishnamurthy et al.
Mamiko Yamada et al.
Cleidocranial dysplasia (CCD) is a genetic disorder characterized by delayed cranial suture closure, hypoplastic clavicles, and dental anomalies, with varying severity. Most cases are linked to RUNX2 variants; however, rare CCD-like phenoty...
Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy [0.03%]
49例nebulin相关先天性肌病的临床、病理和遗传特点分析
Yvan de Feraudy,Anthony Maino,Morgane Boedec et al.
Yvan de Feraudy et al.
Congenital nemaline myopathies are rare genetic disorders that typically manifest at birth or in childhood, with muscle weakness and respiratory distress. They are characterized by the presence of rod-like structures on the muscle biopsy, o...
Mitochondrial tRNASer(AGY) 12234A > G Mutation May Contribute to the Clinical Expression of Hypertrophic Cardiomyopathy-Associated tRNAIle 4263A > G Mutation [0.03%]
线粒体tRNASer(AGY) 12234A> G突变可能促进了心脏肥厚相关tRNAIle 4263A> G突变的临床表现
Mengting Liu,Qinxian Guo,Shunrong Zhang et al.
Mengting Liu et al.
Mutations in mitochondrial tRNA (mt-tRNA) are found to be associated with hypertrophic cardiomyopathy (HCM), but their molecular mechanisms remain largely undetermined. In this study, we investigated the contribution of a novel HCM-related ...
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia [0.03%]
AP4B1同义变异的剪接效应：多组学方法确诊两名伴有双下肢痉挛性瘫痪姐妹的罕见病
Susann Badmann,Alice Saparov,Philip Harrer et al.
Susann Badmann et al.
Patients with suspected monogenic disorders often remain undiagnosed after exome sequencing. We report a family with two sisters affected by a complex spastic paraplegia. Initial exome sequencing had identified monoallelic pathogenic nonsen...
Case Reports
Human mutation. 2026 Aug 12:2026:8645235. DOI:10.1155/humu/8645235 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia [0.03%]
AP4B1同义突变的拼接效应：多组学方法在两名共济失调孪生姐妹中的诊断作用
Susann Badmann,Alice Saparov,Philip Harrer et al.
Susann Badmann et al.
Patients with suspected monogenic disorders often remain undiagnosed after exome sequencing. We report a family with two sisters affected by a complex spastic paraplegia. Initial exome sequencing had identified monoallelic pathogenic nonsen...
Case Reports
Human mutation. 2026 Aug 12:2026:8645235. DOI:10.1155/humu/8645235 2026