Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2 [0.03%]
新的复合杂合DOCK6变异基因扩大了Adam Oliver综合征2型产前诊断的变异谱型
Xue Zhong,Xuan Zheng,Yinglei Xv et al.
Xue Zhong et al.
Background: Adams-Oliver syndrome (AOS) is a rare developmental disorder, and the DOCK6 gene is an identified AOS gene. This report highlights the prenatal diagnosis of AOS-2 by ultrasonography and genetic testing. ...
Chromosomal instability by low-coverage whole-genome sequencing assay predicts prognosis in bladder cancer patients underwent radical cystectomy [0.03%]
低覆盖全基因组测序不稳定性预测膀胱癌根治性切除患者的预后
Qi Ding,Hailiang Zhu,Bo Fan et al.
Qi Ding et al.
Purpose: To investigate chromosomal instability (CIN) in tumor tissue from radical bladder resection and to evaluate whether it can be used as a biomarker for the molecular typing of (BC). ...
ABO exon polymorphisms are related to ischemic stroke in a Chinese Han population [0.03%]
ABO外显子多态性与中国汉族人群缺血性卒中的关联研究
Yi Zhong,Mei Lin,Xiaoli Zhou et al.
Yi Zhong et al.
Background: Recent research have underscored the relation of ABO blood group system to cerebrovascular disorders predisposition. The present investigation endeavors to delve into the relationship between ABO polymorphisms...
Genome-to-genome analysis reveals associations between human and mycobacterial genetic variation in tuberculosis patients from Tanzania [0.03%]
基因组到基因组的分析揭示了坦桑尼亚结核病患者的遗传变异之间的关联性
Zhi Ming Xu,Michaela Zwyer,Hellen Hiza et al.
Zhi Ming Xu et al.
The risk and prognosis of tuberculosis (TB) are influenced by a complex interplay between human and bacterial genetic factors. While previous genomic studies have largely examined human and bacterial genomes separately, we adopted an integr...
Influence of genetic factors of humans, mosquitoes and parasites, on the evolution of Plasmodium falciparum infections, malaria transmission and genetic control methods: a review of the literature [0.03%]
遗传因素对人类、蚊虫和疟原虫的影响及疟疾感染、传播和基因控制方法的演变：文献综述
Seni Nikiema,Issiaka Soulama,Gifty Dufie Ampofo et al.
Seni Nikiema et al.
Despite significant progress, malaria remains a public health problem in many regions, particularly in sub-Saharan Africa. This situation is partly explained by the mosquito's resistance to insecticides and the emergence of parasite resista...
MDA5 variants trade antiviral activity for protection from autoimmune disease [0.03%]
MDA5变异体通过抗病毒活性来预防自身免疫性疾病
Chris Wallace,Rahul Singh,Yorgo Modis
Chris Wallace
Loss-of-function variants in MDA5, a key sensor of double-stranded RNA from viruses and retroelements, have been associated with protection from type 1 diabetes (T1D) in genome-wide association studies (GWAS). MDA5 loss-of-function variants...
CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome [0.03%]
削弱COMMD结合的CCDC22突变导致轻度3C/Ritscher-Schinzel综合征
Amika Singla,Carolyn Rogers,Mary-Joe Touma et al.
Amika Singla et al.
The CCC complex, composed of CCDC22, CCDC93, and ten proteins of the COMMD family, coordinates several critical steps required to recycle internalized plasma membrane proteins from endosomes to the cell surface. CCC interacts with Retriever...
Defining three dimensional chromatin structures of pediatric and adolescent B cells using primary B cell and EBV-immortalized B cell reference genomes [0.03%]
利用原代B细胞和EB病毒转化的B细胞参考基因组定义小儿和青少年B细胞的三维染色体结构
Kaiyu Jiang,Yao Fu,Jennifer A Kelly et al.
Kaiyu Jiang et al.
Background/purpose: Knowledge of the 3D genome is essential to elucidate genetic mechanisms driving autoimmune diseases. The 3D genome is distinct for each cell type, and it is uncertain whether cell lines faithfully reca...
Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports [0.03%]
TBL1XR1的不同突变导致神经发育障碍的表型多样性：2例报道
Linlin Wei,Yonghui Yang,Tiejia Jiang et al.
Linlin Wei et al.
The TBL1XR1 gene (Transducin beta-like 1X-linked receptor 1) is responsible for encoding the TBL1XR1 protein, an important component of the NCoR and SMRT corepressor complexes. 48 missense variants of the TBL1XR1 gene have been reported, wh...
Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome [0.03%]
突尼斯_chediak-higashi综合征患者LYST新突变的全面分析
Yessine Amri,Saoussen Chouchene,Hajer Foddha et al.
Yessine Amri et al.
Background: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, recurrent infections, bleeding tendencies, and progressive neurological impairment. The syndrome ...