Retraction Note: lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma [0.03%]
撤回 notice:长链非编码 RNA TINCR 通过海绵 miR-214-5p 在肝细胞癌中上调 ROCK1 的表达
Min Hu,Yaowu Han,Ying Zhang et al.
Min Hu et al.
Retraction of Publication
BMC medical genetics. 2021 Mar 12;21(1):1178. DOI:10.1186/s12881-020-01178-9 2021
A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population [0.03%]
韩国人群中与慢性乙肝风险相关的补体因子B非同义突变位点rs12614的研究
Jung Yeon Seo,Joong-Gon Shin,Byeong Ju Youn et al.
Jung Yeon Seo et al.
Background: Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614...
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis [0.03%]
高通量测序在遗传咨询中的应用——一例胱氨酸病携带者夫妇的咨询
Mouna Ouhenach,Abdelali Zrhidri,Imane Cherkaoui Jaouad et al.
Mouna Ouhenach et al.
Background: In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive d...
Luojia Xu,Weizhong Gu,Youyou Luo et al.
Luojia Xu et al.
Background: Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases ...
Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation [0.03%]
病例报告：肝移植术后15年诊断出进行性家族性肝内胆汁淤积症类型3合并杂合的ABCB4变异型
Mariam Goubran,Ayodeji Aderibigbe,Emmanuel Jacquemin et al.
Mariam Goubran et al.
Background: Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug ...
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report [0.03%]
OPA1基因首个亚微斯康比亚倒位导致显性视神经萎缩一例报告
Nicole Weisschuh,Pascale Mazzola,Tilman Heinrich et al.
Nicole Weisschuh et al.
Background: Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that ...
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient [0.03%]
首个由中国患者提供的新型FOLR1基因突变导致脑部叶酸缺乏的病例报告
Ciliu Zhang,Xiaolu Deng,Yafei Wen et al.
Ciliu Zhang et al.
Background: Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include ...
Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype [0.03%]
DNAH11基因在原发性纤毛运动障碍（CILD7）中的两种新型突变及其临床和纤毛节律表型的广泛差异性
Rüdiger Schultz,Varpu Elenius,Heikki Lukkarinen et al.
Rüdiger Schultz et al.
Background: Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Micro...
Interleukin-4 gene polymorphism (C33T) and the risk of the asthma: a meta-analysis based on 24 publications [0.03%]
白细胞介素4基因多态性(C33T)与哮喘易感性的关系的meta分析基于24篇文献
Danyal Imani,Mohammad Masoud Eslami,Gholamreza Anani-Sarab et al.
Danyal Imani et al.
Background: Previous studies evaluated the association of IL-4 C33T polymorphism and risk of bronchial asthma but failed to establish a consistent conclusive association. In the present meta-analysis, we intend to define ...
Meta-Analysis
BMC medical genetics. 2020 Nov 23;21(1):232. DOI:10.1186/s12881-020-01169-w 2020
Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre [0.03%]
西班牙东北部地区亨廷顿舞蹈病的患病率：三级医疗中心回顾性研究
Paula Sienes Bailo,Raquel Lahoz,Juan Pelegrín Sánchez Marín et al.
Paula Sienes Bailo et al.
Background: Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type...