KEY WORDS Kabuki syndrome; congenital heart disease; interrupted aortic arch; KMT2D gene; de novo mutation 歌舞伎脸谱综合征( Kabuki syndrome , KS 基金项目:云南省应用基础研究联合基金专项(202001AY07 0001-273);云南省高层次卫生健康技术人才项目(L-2018003);昆明市卫生科技人才培养项目暨“十百千”工程...
It is consistent with the pathogenesis of KS, an autosomal dominat genetic disease caused by KMT2D gene mutation. This pathogenic mutation has not been prebiously reported. Discussion: KS has strong clinical characteristics and biological heterogeneity. Genetic diagnosis can help identify mutant gene ...
RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules. Authors - Ning Jiang View Article human WB,IHC Transl Cancer Res Histone methyltransferase KMT2D mediated lipid metabolism via ...
A new mutation in KMT2D gene was found, which had not been reported before.Key words: Kabuki syndrome; KMT2D gene; new mutationKabuki综合征(Kabuki syndrome,KS),又称为歌舞伎综合征,是一种以典型的面部特征、骨骼异常、不同程度的智力低下为主要症状的疾病,其他特征包括先天性心脏缺陷、泌尿生殖系统...
还和暨南大学粤港澳中枢神经再生研究院师玲玲团队合作,同样使用病人iPS疾病造模方法揭示了临床发现的自闭症易感基因SHANK2的新发致病突变SHANK2BY29X的致病神经机制,该部分工作于2024年5月4日在Molecular Psychiatry杂志发表,题为Autism patie...
Kabuki syndrome caused by a new mutation of KMT2D gene: a case report YANG Guihua SUN Yanfang LI Huiyuan GONG Qiang YU Yan WANG Jing ZHANG Wuyi Authors Info & Affiliations Published: 2020 -07 -09 · DOI: 10.3969/j.issn.1000-3606.2020.06.016...
Histone lysine methyltransferases (HMT) comprise a subclass of epigenetic regulators; dysregulation of these enzymes affects gene expression, which may lead to tumorigenesis. Here, we performed an integrated analysis of 50 HMTs in bladder cancer and found intrinsic links between copy number alterations,...
Genome Medicine (2024) 16:136 https://doi.org/10.1186/s13073-024-01401-9 Genome Medicine RESEARCH Open Access Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities Yuka Takemon1,2,3, Erin ...
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat. Genet. 42, 722–726 (2010). CAS PubMed Google Scholar Lewis, P. W. et al. Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma. Science 340, 857–861 (...
报告1例因智力低下,发育迟缓就诊的患儿,经全外显子组测序检测相关致病基因,并对家庭成员进行Sanger DNA测序验证,发现患儿KMT2D基因存在c.6752delC(p.S2251Cfs*13)移码突变,经ClinVar和人类基因突变数据库(Human Gene Mutation Database,HGMD)等数据库搜索未发现此突变位点的记载,其父母未携带该变异,此突变为新发...