Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle [0.03%]
整合肿瘤和胚系全外显子组测序鉴定出四脑室玫瑰型胶质神经细胞瘤患儿MAPK和PI3K通路基因突变
Frank Y Lin,Katie Bergstrom,Richard Person et al.
Frank Y Lin et al.
The integration of genome-scale studies such as whole-exome sequencing (WES) into the clinical care of children with cancer has the potential to provide insight into the genetic basis of an individual's cancer with implications for clinical...
Testing ERBB2 p.L755S kinase domain mutation as a druggable target in a patient with advanced colorectal cancer [0.03%]
结直肠癌患者ERBB2激酶区p.L755S突变的药物靶点验证研究
Kyaw L Aung,Tracy L Stockley,Stefano Serra et al.
Kyaw L Aung et al.
Recent advances in molecular profiling technologies allow genetic driver events in individual tumors to be identified. The hypothesis behind this ongoing molecular profiling effort is that improvement in patients' clinical outcomes will be ...
Niklas Smedemark-Margulies,Catherine A Brownstein,Sigella Vargas et al.
Niklas Smedemark-Margulies et al.
We describe a child with onset of command auditory hallucinations and behavioral regression at 6 yr of age in the context of longer standing selective mutism, aggression, and mild motor delays. His genetic evaluation included chromosomal mi...
A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcoma [0.03%]
一个新的TP53-KPNA3易位定义了骨肉瘤中一个耐药的de novo治疗抵抗克隆
Kenneth S Chen,Woo Sun Kwon,Jiwoong Kim et al.
Kenneth S Chen et al.
Osteosarcoma is the most common primary bone cancer. It can be cured by aggressive surgery and chemotherapy, but outcomes for metastatic or chemoresistant disease remain dismal. Cancer sequencing studies have shown that the p53 pathway is d...
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia [0.03%]
ZMYND11错义突变与发育迟缓、癫痫和低张力相关
Abby M Moskowitz,Newell Belnap,Ashley L Siniard et al.
Abby M Moskowitz et al.
Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene ...
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease [0.03%]
由Twinkle突变引起的婴儿脊小脑共济失调及导致隐性疾病的Twinkle突变的建模研究
Sarah B Pierce,Suleyman Gulsuner,Gail A Stapleton et al.
Sarah B Pierce et al.
Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochond...
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures [0.03%]
Aarskog-Scott综合征伴先天性关节屈曲畸形为主征家系的新FGD1基因突变
Laurie Beth Griffin,Frances A Farley,Anthony Antonellis et al.
Laurie Beth Griffin et al.
Mutations in FGD1 cause Aarskog-Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation. Here we report a novel FGD1 muta...
Distinctly perturbed metabolic networks underlie differential tumor tissue damages induced by immune modulator β-glucan in a two-case ex vivo non-small-cell lung cancer study [0.03%]
两种非小细胞肺癌样本的体外研究揭示免疫调节剂β-葡聚糖通过扰动代谢网络诱导不同的肿瘤组织损伤机制
Teresa W-M Fan,Marc O Warmoes,Qiushi Sun et al.
Teresa W-M Fan et al.
Cancer and stromal cell metabolism is important for understanding tumor development, which highly depends on the tumor microenvironment (TME). Cell or animal models cannot recapitulate the human TME. We have developed an ex vivo paired canc...
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia [0.03%]
外显子组测序成功诊断并指导治疗一种严重先天性贫血病症
Jessica N Lacy,Jacob C Ulirsch,Rachael F Grace et al.
Jessica N Lacy et al.
Whole-exome sequencing is increasingly used for diagnosis and identification of appropriate therapies in patients. Here, we present the case of a 3-yr-old male with a lifelong and severe transfusion-dependent anemia of unclear etiology, des...
Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1 [0.03%]
全外显子组测序发现C3AR1基因的一个可能致病的移码突变与一个严重而复杂的凝血异常患者的表型有关
Eva Leinøe,Ove Juul Nielsen,Lars Jønson et al.
Eva Leinøe et al.
The increasing availability of genome-wide analysis has made it possible to rapidly sequence the exome of patients with undiagnosed or unresolved medical conditions. Here, we present the case of a 64-yr-old male patient with schistocytes in...