| 1 | Mov. Disord. 2007 Jul 22: 1358-61 |
|---|---|
| PMID | 17469188 |
| 标题 | 麦克劳综合征中明显缺失的表型变异性。 |
| 抽象的 | X连锁的McLeod神经果会综合症综合征与亨廷顿氏病强烈相似，并且在世界各地的各个国家都有报道。在此，我们报告了两个智利兄弟，具有疾病发病的主要精神病特征schizophrenia-like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in thexk基因(938 - 942 delctcta), already described in a North American patient of Anglo-Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938-942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. |
| SCZ关键字 | schizophrenia |
| 2 | Mol. Psychiatry 2009 Aug 14: 804-19 |
| PMID | 18521090 |
| 标题 | Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study. |
| 抽象的 | A whole genome association study was performed in a phase 3 clinical trial conducted to evaluate a novel antipsychotic, iloperidone, administered to treat patients withschizophrenia。Genotypes of 407 patients were analyzed for 334,563 single nucleotide polymorphisms (SNPs). SNPs associated with iloperidone efficacy were identified within the neuronal PAS domain protein 3 gene (NPAS3), close to a translocation breakpoint site previously observed in a family withschizophrenia。Five other loci were identified that include thexk, Kell blood group complex subunit-related family, member 4 gene (xkR4), the tenascin-R gene (TNR), the glutamate receptor, inotropic, AMPA 4 gene (GRIA4), the glial cell line-derived neurotrophic factor receptor-alpha2 gene (GFRA2), and the NUDT9P1 pseudogene located in the chromosomal region of the serotonin receptor 7 gene (HTR7). The study of these polymorphisms and genes may lead to a better understanding of the etiology ofschizophrenia及其治疗。这些结果为对伊洛哌替补酮的反应提供了新的见解，该洞穴的最终目的是将治疗对具有最高利益风险比率的患者进行。 |
| SCZ关键字 | schizophrenia |
| 3 | Neurosci。res。2011年3月69日：196-202 |
| PMID | 21145924 |
| 标题 | 对情绪障碍和精神分裂症中神经性神经细胞增多症的基因的全面分析。 |
| 抽象的 | Neuroacanthocytosis syndromes are mainly comprised of two diseases: chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). There is a high incidence of psychiatric disorders such as mood disorder andschizophreniaamong neuroacanthocytosis patients. We hypothesized that neuroacanthocytosis-related-genes might be associated with susceptibility to these psychiatric disorders. We performed a comprehensive mutation screen of VPS13A andxk, the gene responsible for ChAc and MLS, respectively, in 85 mood disorder subjects andxkin 86schizophreniasubjects and compared the variants to 100 or more control alleles. We also performed copy number variation (CNV) analysis in 72 mood disorder subjects and 86schizophreniasubjects. We identified three non-synonymous, two synonymous and six intron variants in mood disorder subjects and a novel GAT triplet repeat polymorphism in VPS13A. By CNV analysis, we identified a heterozygous exon 60-61 deletion in VPS13A in one mood disorder subject. We identified one non-synonymous and one intron variant in mood disorder andschizophreniasubjects, respectively, inxk。情绪障碍或情绪障碍中潜在功能变异的存在或schizophreniasubjects suggests that neuroacanthocytosis-related-genes might be involved in the pathogenesis of these psychiatric disorders. |
| SCZ关键字 | schizophrenia |
| 4 | 动画。基因。2014年6月45日：439-41 |
| PMID | 24666329 |
| 标题 | A polymorphism in XKR4 is significantly associated with serum prolactin concentrations in beef cows grazing tall fescue. |
| 抽象的 | Fescue toxicosis is a common syndrome of poor growth and reproductive performance of beef cattle grazing endophyte-infected tall fescue infected with Lolium arundinaceum Schreb. Together with decreased feed intake, decreased growth rates and tissue necrosis due to vasoconstriction, depressed circulating serum prolactin concentrations are typically observed in cattle afflicted with fescue toxicosis. Polymorphisms within thexk, Kell blood group complex subunit-related family, member 4 (xkR4) gene located on BTA14 have been previously reported to be associated with rump fat thickness, residual feed intake, average daily feed intake and average daily gain in cattle. Associations also have been reported betweenxkR4 genotype and effectiveness of the dopamine antagonist iloperidone as a treatment ofschizophrenia在人类中。多巴胺拮抗剂Domperidone介导了羊茅毒性对牲畜的影响，包括恢复抑郁症的催乳素。592个牛肉放牧的牛牛内生菌感染的高羊茅的混血人群用于检查xkR4 genotype and circulating prolactin concentrations. The SNP rs42646708 was significantly (P = 0.0002) associated with serum prolactin concentrations and explained 2.45% of the phenotypic variation. Effect of genotype at the SNP was tested across five breeds, with significant associations within both Angus (P = 0.0275) and Simmental (P = 0.0224) breeds. These results suggestxkR4 may play a role in mediating the negative effects of fescue toxicosis, and polymorphisms within this gene may be useful markers for selection for genetic resistance to the debilitating effects of endophyte-infected tall fescue. |
| SCZ关键字 | schizophrenia |