MtDNA genomes reveal a relaxation of selective constraints in low-BMI individuals in a Uyghur population [0.03%]
线粒体基因组揭示了维吾尔人群低体重指数个体中的选择限制放松现象
Hong-Xiang Zheng,Lei Li,Xiao-Yan Jiang et al.
Hong-Xiang Zheng et al.
Considerable attention has been focused on the effect of deleterious mutations caused by the recent relaxation of selective constraints on human health, including the prevalence of obesity, which might represent an adaptive response of ener...
Clinical Trial
Human genetics. 2017 Oct;136(10):1353-1362. DOI:10.1007/s00439-017-1829-0 2017
Investigating the genetic relationship between Alzheimer's disease and cancer using GWAS summary statistics [0.03%]
利用GWAS汇总统计数据调查阿尔茨海默病与癌症之间的遗传关系
Yen-Chen Anne Feng,Kelly Cho,Sara Lindstrom et al.
Yen-Chen Anne Feng et al.
Growing evidence from both epidemiology and basic science suggest an inverse association between Alzheimer's disease (AD) and cancer. We examined the genetic relationship between AD and various cancer types using GWAS summary statistics fro...
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas [0.03%]
RB1mRNA剪接异常是视网膜母细胞瘤发生的主要原因
Kamil J Cygan,Rachel Soemedi,Christy L Rhine et al.
Kamil J Cygan et al.
Defective splicing is a common cause of genetic diseases. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations with most mapping to the critical GT or AG nucleotides within the 5' and 3' splice sites. How...
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth [0.03%]
识别出一种非典型微缺失从而产生RNF135-SUZ12融合基因并导致NF1患者过生长的位点效应
Luca Ferrari,Giulietta Scuvera,Arianna Tucci et al.
Luca Ferrari et al.
Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The variable expressivity ...
Katannya Kapeli,Fernando J Martinez,Gene W Yeo
Katannya Kapeli
Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical determinants of neurological diseases, especially motor neuron disorders such as amyotrophic lateral sclerosis (ALS). RBPs are involved in all aspects of RN...
The activity of the serotonin receptor 2C is regulated by alternative splicing [0.03%]
血清素受体2C的活性由选择性剪接调节
Stefan Stamm,Samuel B Gruber,Alexander G Rabchevsky et al.
Stefan Stamm et al.
The central nervous system-specific serotonin receptor 2C (5HT2C) controls key physiological functions, such as food intake, anxiety, and motoneuron activity. Its deregulation is involved in depression, suicidal behavior, and spasticity, ma...
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features [0.03%]
有关TRIP12基因(E3泛素蛋白连接酶)的单倍体不足可导致伴有或不伴有孤独症谱系障碍、语言发育迟缓和特殊面容的精神发育障碍：勘误通知书
Jing Zhang,Tomasz Gambin,Bo Yuan et al.
Jing Zhang et al.
Published Erratum
Human genetics. 2017 Aug;136(8):1009-1011. DOI:10.1007/s00439-017-1828-1 2017
A genetic risk score is differentially associated with migraine with and without aura [0.03%]
遗传风险评分与有或无先兆偏头痛的不同关联
Claudia Pisanu,Martin Preisig,Enrique Castelao et al.
Claudia Pisanu et al.
Although a number of migraine-associated single-nucleotide polymorphisms (SNP) with small effect size have been identified, little is known about the additive impact of these variants on migraine risk, frequency and severity. We investigate...
A cis-eQTL genetic variant of the cancer-testis gene CCDC116 is associated with risk of multiple cancers [0.03%]
癌症睾丸基因CCDC116的顺式表达定量性状位点遗传变异与多种癌症风险相关
Na Qin,Cheng Wang,Qun Lu et al.
Na Qin et al.
Recent studies have found that cancer-testis (CT) genes, which are expressed predominantly in germ and cancer cells, may be candidate cancer drivers. Because of their crucial roles, genetic variants in these genes may contribute to the deve...
Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility [0.03%]
剂量效应假说解释杂合突变的ZP2和ZP3导致人类不孕症
Wenqiang Liu,Kunming Li,Dandan Bai et al.
Wenqiang Liu et al.
The zona pellucida (ZP) is an extracellular matrix universally surrounding mammalian eggs, which is essential for oogenesis, fertilization, and pre-implantation embryo development. Here, we identified two novel heritable mutations of ZP2 an...