| 1 | 是。J. Med。基因。2001年8月105日：529-33 |
|---|---|
| PMID | 11496370 |
| Title | ufd1l基因与精神分裂症的启动子多态性的关联研究。 |
| 抽象的 | 精神分裂症由于染色体22q11.2的半合子性，经常在受digeorge/velo-cardio-farsy综合征（DGS/VCF）影响的患者中发现或具有棘手性疾病。我们评估了UFD1L基因，DGS/VCFS区域内的映射，作为潜在的候选者精神分裂症敏感性。UFD1L编码泛素融合降解1蛋白，该蛋白在小鼠发育过程中在内侧脑脑中表达。使用案例控制，单纯族家族（三重奏）和功能研究，我们提供了证据证明精神分裂症以及位于非编码区域内的单个核苷酸功能多态性-277A/gUFD1L基因。结果支持UFD1L参与神经发育起源精神分裂症并为描述病理和致病机制做出贡献精神分裂症与22Q11.2缺失综合征有关的亚型。 |
| SCZ Keywords | 精神分裂症 |
| 2 | 是。J. Med。基因。B Neuropsychiatr. Genet. 2008 Oct 147B: 1076-9 |
| PMID | 18270977 |
| Title | 对精神分裂症的UFD1L基因的基于家庭和人群的研究。 |
| 抽象的 | 目前的工作是为了调查UFD1Llocus with精神分裂症among 304 Chinese family trios of Han descent. We detected four single nucleotide polymorphisms (SNPs) in the 5'-end region of theUFD1L基因。传输不平衡测试（TDT）揭示了RS5746744（CHI（2）= 8.02，P = 0.005）和RS1547931（CHI（2）= 7.18，P = 0.007）的等位基因关联，但未能复制RS5992403的疾病协会。最初在意大利和加拿大样品中发现的启动子区域。RS5746744和RS1547931的等位基因协会通过独立招募的病例对照样本复制。2-SNP单倍型分析表明，RS5992403-RS5746744单倍型（CHI（2）= 18.92，DF = 3，P = 0.0003），RS57467444-RS1547931 haplotypes（CHI（2）= 18.92，p = 0.0003）= 0.011）和RS1547931-RS2238769单倍型（CHI（2）= 18.88，df = 3，p = 0.0003）。4-SNP单倍型分析还显示出与疾病的密切相关性（CHI（2）= 29.54，DF = 9，p = 0.0005），但有多种单个单倍型，低频过度不转移。经过测试的四个SNP不在中国人口中的同一LD块中。这项研究提高了一种有可能通过两种或多个单倍型在UFD1L由于减数分裂过程中经常重组而引起的基因座。 |
| SCZ Keywords | 精神分裂症 |
| 3 | J Psychiatr Res 2010 Nov 44: 1113-5 |
| PMID | 20471029 |
| Title | UFD1L RS5992403多态性与精神分裂症发作时的年龄有关。 |
| 抽象的 | -1 |
| SCZ Keywords | 精神分裂症 |
| 4 | PLOS ONE 2012 -1 7：E33473 |
| PMID | 22457764 |
| Title | Functional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndrome. |
| 抽象的 | 22q11 Deletion Syndrome (22q11DS) is associated with dysmorphology and a high prevalence of精神分裂症- 症状。位于22q11染色体上的几个基因已与精神分裂症。The deletion is thought to disrupt the expression of multiple genes involved in maturation and development of neurons and neuronal circuits, and neurotransmission. We investigated whole-genome gene expression of Peripheral Blood Mononuclear Cells (PBMC's) of 8 22q11DS patients and 8 age- and gender-matched controls, to (1) investigate the expression levels of 22q11 genes and (2) to investigate whether 22q11 genes participate in functional genetic networks relevant to精神分裂症。功能基因之间的关系不同ially expressed in patients (as identified by Locally Adaptive Statistical procedure (LAP) or satisfying p<0.05 and fold-change >1.5) were investigated with the Ingenuity Pathways Analysis (IPA). 14 samples (7 patients, 7 controls) passed quality controls. LAP identified 29 deregulated genes. Pathway analysis showed 262 transcripts differentially expressed between patients and controls. Functional pathways most disturbed were cell death, cell morphology, cellular assembly and organization, and cell-to-cell signaling. In addition, 10 canonical pathways were identified, among which the signal pathways for Natural Killer-cells, neurotrophin/Trk, neuregulin, axonal guidance, and Huntington's disease. Our findings support the use of 22q11DS as a research model for精神分裂症。我们确定了几个基因的表达降低（其中包括UFD1L, PCQAP, and GNB1L) previously linked to精神分裂症as well as involvement of signaling pathways relevant to精神分裂症，其中神经营养蛋白/TRK和神经结合蛋白信号似乎特别明显。 |
| SCZ Keywords | 精神分裂症 |
| 5 | Psychiatry Res 2013 Aug 209: 110-3 |
| PMID | 23623450 |
| Title | 精神分裂症候选基因UFD1L的多态性可能导致认知缺陷。 |
| 抽象的 | 我们旨在调查UFD1L多态性精神分裂症and in relation to cognition. A total of 299 cases and 363 controls were genotyped, and 130 patients completed nine neuropsychological tests. We found that rs5992403 AA-genotype carriers showed lower scores on the set-shifting task. Therefore,UFD1L可能参与观察到的核心认知缺陷精神分裂症。 |
| SCZ Keywords | 精神分裂症 |
| 6 | J. Biol。化学2015年9月290日：23240-53 |
| PMID | 26221035 |
| Title | Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome. |
| 抽象的 | 先天性疾病22q11.2缺失综合征（22QD），其特征是在基因座11.2的染色体上的半合理缺失为1.5-3 MB，是最常见的微缺失障碍（估计4000中的1个患病率），是第二种风险因素）精神分裂症。22QD参与的30个基因中有9个有可能破坏线粒体代谢（COMT，，UFD1L, DGCR8, MRPL40, PRODH, SLC25A1, TXNRD2, T10, and ZDHHC8). Deficits in bioenergetics during early postnatal brain development could set the basis for a disrupted neuronal metabolism or synaptic signaling, partly explaining the higher incidence in developmental and behavioral deficits in these individuals. Here, we investigated whether mitochondrial outcomes and metabolites from 22qDS children segregated with the altered dosage of one or several of these mitochondrial genes contributing to 22qDS etiology and/or morbidity. Plasma metabolomics, lymphocytic mitochondrial outcomes, and epigenetics (histone H3 Lys-4 trimethylation and 5-methylcytosine) were evaluated in samples from 11 22qDS children and 13 age- and sex-matched neurotypically developing controls. Metabolite differences between 22qDS children and controls reflected a shift from oxidative phosphorylation to glycolysis (higher lactate/pyruvate ratios) accompanied by an increase in reductive carboxylation of ?-ketoglutarate (increased concentrations of 2-hydroxyglutaric acid, cholesterol, and fatty acids). Altered metabolism in 22qDS reflected a critical role for the haploinsufficiency of the mitochondrial citrate transporter SLC25A1, further enhanced by HIF-1?, MYC, and metabolite controls. This comprehensive profiling served to clarify the biochemistry of this disease underlying its broad, complex phenotype. |
| SCZ Keywords | 精神分裂症 |
| 7 | 世界J. Biol。精神病学2015年6月1日：1-6 |
| PMID | 26089098 |
| Title | 与精神病患者和对照组的第一集相比，超高风险受试者血液中的基因表达分析。 |
| 抽象的 | 这项研究旨在研究与第一集精神病患者（FEP）和健康对照（HC）相比，超高风险受试者（UHR）中的外周血基因表达。 We enrolled 22 UHR, 66 FEP and 67 HC and investigated the expression of 12 genes using Taqman assays. We used the Univariate General Linear Model, as well as Bonferroni correction for multiple comparisons. 我们发现UFD1L(ubiquitin fusion degradation 1 like (yeast)) gene was upregulated in UHR group compared to HC and FEP (P = 3.44 � 10(-6) ; P = 9.41 � 10(-6)). MBP (myelin basic protein) was downregulated in UHR compared to FEP (P = 6.07 � 10(-6)). DISC1 (disrupted in精神分裂症1）与FEP相比，UHR中也被上调，但在校正年龄时失去了统计学意义。 这些基因与神经发育过程直接相关，并且与精神分裂症。最近的发现描述了Disc1的过表达会破坏MBP的表达，因此，我们认为UHR个体中的这些改变可能与共同过程有关。UFD1Lshowed a different pattern of expression only for UHR group, suggesting that they can be under an acute endoplasmatic reticulum stress, demanding elevated levels of Ufd1. Further studies can improve knowledge on disease progression and putative targets to preventive strategies. |
| SCZ Keywords | 精神分裂症 |