Meta-analysis for linkage to asthma and atopy in the chromosome 5q31-33 candidate region [0.03%]
五号染色体31-33区域与哮喘和特应性相关性的连锁 meta 分析
L J Palmer,K C Barnes,P R Burton et al.
L J Palmer et al.
Asthma is a common, complex human disease. Gene discovery in asthma has been complicated by substantial etiological heterogeneity, the possibility of genes of small effect and the concomitant requirement for large sample sizes. Linkage to a...
Meta-Analysis
Human molecular genetics. 2001 Apr 1;10(8):891-99. DOI:10.1093/hmg/10.8.891 2001
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology [0.03%]
天使人综合症泛素连接酶定位在突触和细胞核中，母系缺乏会导致树突棘形态异常
Scott V Dindot,Barbara A Antalffy,Meenakshi B Bhattacharjee et al.
Scott V Dindot et al.
Loss of function of the maternally inherited allele for the UBE3A ubiquitin ligase gene causes Angelman syndrome (AS), which is characterized by severe neurological impairment and motor dysfunction. In addition, UBE3A lies within chromosome...
Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice [0.03%]
PKD1基因肾脏特异性失活致小鼠发育肾囊泡迅速形成和成年后缓慢发病
Irma S Lantinga-van Leeuwen,Wouter N Leonhard,Annemieke van der Wal et al.
Irma S Lantinga-van Leeuwen et al.
Autosomal dominant polycystic kidney disease, caused by mutations in the PKD1 gene, is characterized by progressive deterioration of kidney function due to the formation of thousands of cysts leading to kidney failure in mid-life or later. ...
Smoking and alcoholism target genes associated with plasticity and glutamate transmission in the human ventral tegmental area [0.03%]
与可塑性和谷氨酸传递有关的吸烟和酒精目标基因在人脑腹侧被盖区中的表达
T Flatscher-Bader,N Zuvela,N Landis et al.
T Flatscher-Bader et al.
Drugs of abuse including nicotine and alcohol elicit their effect by stimulating the mesocorticolimbic dopaminergic system. There is a high incidence of nicotine dependence in alcoholics. To date only limited data is available on the molecu...
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals [0.03%]
FMR1 基因 CGG 重复序列区的反义转录本在前突变携带者中高表达而在全突变个体中沉默
Paula D Ladd,Leslie E Smith,Natalia A Rabaia et al.
Paula D Ladd et al.
Expansion of the polymorphic CGG repeats within the 5'-UTR of the FMR1 gene is associated with variable transcriptional regulation of FMR1. Here we report a novel gene, ASFMR1, overlapping the CGG repeat region of FMR1 and transcribed in th...
Human angiogenin is a neuroprotective factor and amyotrophic lateral sclerosis associated angiogenin variants affect neurite extension/pathfinding and survival of motor neurons [0.03%]
人血管生成素是一种神经保护因子，渐冻症相关的血管生成素突变体影响运动神经元的轴突生长/导向及存活
Vasanta Subramanian,Benedict Crabtree,K Ravi Acharya
Vasanta Subramanian
Amyotrophic lateral sclerosis (ALS) is a late onset neurodegenerative disorder affecting upper and lower motor neurons (MNs). The molecular mechanisms underlying ALS are poorly understood. Mutations in SOD1 is one of the known causes of ALS...
Zhen Zhang,Antonio Baldini
Zhen Zhang
Mouse modeling of haploinsufficiency syndromes and, in general, of syndromes caused by gene dosage imbalance, is often unsatisfactory because loss (or gain) of one copy of the gene of interest is insufficient to recapitulate the disease phe...
Carmine Settembre,Alessandro Fraldi,Luca Jahreiss et al.
Carmine Settembre et al.
Most lysosomal storage disorders (LSDs) are caused by deficiencies of lysosomal hydrolases. While LSDs were among the first inherited diseases for which the underlying biochemical defects were identified, the mechanisms from enzyme deficien...
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing [0.03%]
蛋白磷酸酶1与多种剪接因子的RNA识别基序结合并调控选择性前信使RNA加工
Tatyana Novoyatleva,Bettina Heinrich,Yesheng Tang et al.
Tatyana Novoyatleva et al.
Alternative splicing emerges as one of the most important mechanisms to generate transcript diversity. It is regulated by the formation of protein complexes on pre-mRNA. We demonstrate that protein phosphatase 1 (PP1) binds to the splicing ...
Extensive contribution of embryonic stem cells to the development of an evolutionarily divergent host [0.03%]
胚胎干细胞对进化上差异较大的宿主的广泛贡献
Andy Peng Xiang,Frank Fuxiang Mao,Wei-Qiang Li et al.
Andy Peng Xiang et al.
The full potential of embryonic stem (ES) cells to generate precise cell lineages and complex tissues can be best realized when they are differentiated in vivo-i.e. in developing blastocysts. Owing to various practical and ethical constrain...