Association of PNPLA3 rs738409 G/C gene polymorphism with nonalcoholic fatty liver disease in children: a meta-analysis [0.03%]
PNPLA3基因rs738409 G/C多态性与儿童非酒精性脂肪肝病的相关性：一项meta分析
Shan Tang,Jing Zhang,Ting Ting Mei et al.
Shan Tang et al.
Background: Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease worldwide. Current studies have shown that PNPLA3 (Patatin-like phospholipase domain containing 3) rs738409 G/...
Meta-Analysis
BMC medical genetics. 2020 Aug 18;21(1):163. DOI:10.1186/s12881-020-01098-8 2020
Association of MC4R (rs17782313) with diabetes and cardiovascular disease in Korean men and women [0.03%]
MC4R（rs17782313）与韩人糖尿病和心血管疾病的关系研究
Jae Woong Sull,Gitae Kim,Sun Ha Jee
Jae Woong Sull
Background: Diabetes is mostly assessed by the fasting glucose level. Several studies reported that serum fasting glucose levels and cardiovascular disease are associated with MC4R. ...
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma [0.03%]
散发性AXIN2相关表型扩展到包括嗅神经母细胞瘤和胃腺瘤的病例报告
Sarah K Macklin-Mantia,Stephanie L Hines,Kaisorn L Chaichana et al.
Sarah K Macklin-Mantia et al.
Background: Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variabl...
Leptin receptor gene polymorphisms c.668A>G and c.1968G>C in Sudanese women with preeclampsia: a case-control study [0.03%]
苏丹子痫妇女中瘦素受体基因多态性c.668A>G和c.1968G>C的病例对照研究
Amira Saad,Ishag Adam,Salah Eldin G Elzaki et al.
Amira Saad et al.
Background: Leptin receptor gene (LEPR) variants may affect the leptin levels and act as a risk factor for preeclampsia. Two LEPR gene missense variants rs1137101 (c.668A>G) and rs1805094 (c.1968G>C) were investigated in ...
The genome-wide supported CACNA1C gene polymorphisms and the risk of schizophrenia: an updated meta-analysis [0.03%]
CACNA1C基因多态性与精神分裂症发病风险的全基因组关联研究：一项更新的荟萃分析
Yong-Ping Liu,Xue Wu,Xi Xia et al.
Yong-Ping Liu et al.
Background: The CACNA1C gene was defined as a risk gene for schizophrenia in a large genome-wide association study of European ancestry performed by the Psychiatric Genomics Consortium. Previous meta-analyses focused on t...
Meta-Analysis
BMC medical genetics. 2020 Aug 8;21(1):159. DOI:10.1186/s12881-020-01084-0 2020
Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report [0.03%]
一名中国患者同时出现I型毛鼻骨发育异常综合征和Okur-Chung神经发育综合征的双重分子诊断一例报告
Shanshan Xu,Qun Lian,Jinzhun Wu et al.
Shanshan Xu et al.
Background: Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. Ho...
Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence [0.03%]
阿片类物质依赖多种表型与多巴胺合成和代谢基因的关联研究
Yunxiao Li,Yongsheng Zhu,Jianghua Lai et al.
Yunxiao Li et al.
Background: Heroin dependence is a complex disease with multiple phenotypes. Classification of heroin users into more homogeneous subgroups on the basis of these phenotypes could help to identify the involved genetic fact...
Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report [0.03%]
临床生化和基因分析在中国汉族家系中的羟甲基戊二酸辅酶A合成酶缺乏症中的应用：病例报告
Zhenzhu Zheng,Gaopin Yuan,Minyan Zheng et al.
Zhenzhu Zheng et al.
Background: Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin ...
A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss [0.03%]
中国常染色体显性非综合征听力损失家系中新的MYH14基因突变
Mingming Wang,Yicui Zhou,Fengguo Zhang et al.
Mingming Wang et al.
Background: MYH14 gene mutations have been suggested to be associated with nonsyndromic/syndromic sensorineural hearing loss. It has been reported that mutations in MYH14 can result in autosomal dominant nonsyndromic deaf...
Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis [0.03%]
基因表达谱分析揭示LMNA相关心肌病家庭成纤维细胞中参与疾病发生的分子通路
Halida P Widyastuti,Trina M Norden-Krichmar,Anna Grosberg et al.
Halida P Widyastuti et al.
Background: Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene e...