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Glycoprotein M6A (GPM6A) is a neuronal transmembrane protein of the PLP/DM20 (proteolipid protein) family that associates with cholesterol‐rich lipid rafts and promotes filopodia formation. We identified a de novo duplication of the GPM6A gene in a patient with learning disability and behavioral anomalies. Expression analysis in blood lymphocytes showed increased GPM6A levels. An increase of patient‐derived lymphoblastoid cells carrying membrane protrusions supports a functional effect of this duplication. To study the consequences of GPM6A dosage alterations in an intact nervous system, we employed Drosophila melanogaster as a model organism. We found that knockdown of Drosophila M6, the sole member of the PLP family in flies, in the wing, and whole organism causes malformation and lethality, respectively. These phenotypes as well as the protrusions of patient‐derived lymphoblastoid cells with increased GPM6A levels can be alleviated by cholesterol supplementation. Notably, overexpression as well as loss of M6 in neurons specifically compromises long‐term memory in the courtship conditioning paradigm. Our findings thus indicate a critical role of correct GPM6A/M6 levels for cognitive function and support a role of the GPM6A duplication for the patient's phenotype. Together with other recent findings, this study highlights compromised cholesterol homeostasis as a recurrent feature in cognitive phenotypes.  相似文献   
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预先大鼠灌胃连续给药二周后采取幽门结扎法造成大鼠胃溃疡模型,收集胃液量并测定胃液含量,查找溃疡点数,结果表明甘草芍药合剂(GPM)与痢特灵合用抗溃疡作用明显强于各对照组,提示合用具有协同抗溃疡作用。  相似文献   
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Neuronal membrane glycoprotein gene (GPM6B) encodes a membrane glycoprotein that belongs to the proteolipid protein family. We identified GPM6B as a gene that is strongly upregulated during osteoblast differentiation. To investigate the role of GPM6B in the process of bone formation, we silenced GPM6B expression during osteogenic differentiation of human mesenchymal stem cells (hMSCs). GPM6B silencing in hMSCs resulted in reduced alkaline phosphate (ALP) activity along with reduced mineralization of extracellular matrix (ECM). Microarray expression analysis of GPM6B‐depleted osteogenic hMSCs revealed significant changes in genes involved in cytoskeleton organization and biogenesis. Immunocytochemistry results confirm changes in the distribution of actin filaments, as well as the shape and size of focal adhesions on GPM6B silencing. Moreover, we demonstrated that production and release of ALP‐positive matrix vesicles (MVs) were reduced. In conclusion, we identified GPM6B as a novel regulator of osteoblast function and bone formation. This finding demonstrates the significance of cytoskeleton organization for MV production and subsequent mineralization. © 2011 American Society for Bone and Mineral Research  相似文献   
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Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. Combining our data with those of the literature, we propose a single functional genetic retinal signalling pathway that includes all 22 currently known human albinism disease genes. We hypothesise that defects affecting the genesis or function of different intra-cellular organelles, including melanosomes, cause syndromic forms of albinism (Hermansky-Pudlak (HPS) and Chediak-Higashi syndrome (CHS)). We put forward that specific melanosome impairments cause different forms of oculocutaneous albinism (OCA1-8). Further, we incorporate GPR143 that has been implicated in ocular albinism (OA1), characterised by a phenotype limited to the eye. Finally, we include the SLC38A8-associated disorder FHONDA that causes an even more restricted “albinism-related” ocular phenotype with foveal hypoplasia and chiasmal misrouting but without pigmentation defects. We propose the following retinal pigmentation pathway, with increasingly specific genetic and cellular defects causing an increasingly specific ocular phenotype: (HPS1-11/CHS: syndromic forms of albinism)-(OCA1-8: OCA)-(GPR143: OA1)-(SLC38A8: FHONDA). Beyond disease genes involvement, we also evaluate a range of (candidate) regulatory and signalling mechanisms affecting the activity of the pathway in retinal development, retinal pigmentation and albinism. We further suggest that the proposed pigmentation pathway is also involved in other retinal disorders, such as age-related macular degeneration. The hypotheses put forward in this report provide a framework for further systematic studies in albinism and melanin pigmentation disorders.  相似文献   
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The proteolipid protein 1 (PLP1) gene is known to be mutated in the X-linked disorders of myelin formation Pelizaeus–Merzbacher disease (PMD) and spastic paraplegia type 2. The most commonly found PLP1 mutations are gene duplications (60–70%) and point mutations (20%). About 20% of patients with a PMD phenotype do not present identified PLP1 mutation, thus suggesting genetic heterogeneity and/or undetected PLP1 abnormalities. Except the recently described MLPA screening the seven exonic regions, the currently used techniques to quantify PLP1 gene copy number do not investigate small intragenic PLP1 rearrangements. Using the multiplex amplifiable probe hybridization (MAPH) technique, we looked simultaneously for intragenic rearrangements along the PLP1 gene (exonic and regulatory regions) and for rearrangements in the GPM6B candidate gene (a member of the proteolipid protein family). We tested 262 hypomyelinating patients: 56 PLP1 duplicated patients, 1 PLP1 triplicated patient, and 205 patients presenting a leukodystrophy of undetermined origin with brain MRI suggesting a defect in myelin formation. Our results show that MAPH is an alternative reliable technique for diagnosis of PLP1 gene copy number. It allows us (1) to demonstrate that all PLP1 duplications previously found encompass the whole gene, (2) to establish that copy number changes in GPM6B and intragenic duplications of PLP1 are very unlikely to be involved in the etiology of UHL, and (3) to identify one partial triplication and two partial deletions of PLP1 in patients presenting with a PMD phenotype.  相似文献   
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目的:研究糖蛋白6A(GPM6A)在肺癌组织中的表达差异和突变情况,探讨其对临床预后和治疗的价值。方法:利用基因表达数据库(gene expression omnibus,GEO)下载GPM6A基因表达谱资料及临床相关资料。分析GPM6A在肿瘤组织及相匹配的正常组织中的表达差异,研究GPM6A的表达差异与肺癌患者临床病理特征的相关性及其对预后的影响。利用肿瘤基因组图谱(the cancer genome atlas,TCGA)公共数据库对比分析GPM6A基因变异情况。结果:肺癌组织中的GPM6A表达明显低于配对的正常组织(P<0.001),GPM6A表达与肿瘤组织的大小(P<0.05)、病例理分期(P<0.05)相关,肿瘤组织恶性程度越高,GPM6A表达水平越低。在正常组织当中,GPM6A表达水平与患者存在吸烟史(P<0.05)相关,存在吸烟史的患者要比无吸烟史患者GPM6A水平低,但在肿瘤组织中GPM6A表达与吸烟史无相关性。经由建立Cox回归模型发现影响肺癌患者生存预后的独立因素分别为年龄和淋巴结转移(P<0.05)。GPM6A基因拷贝数广泛变异,推测是由于杂合子的缺失导致了GPM6A表达水平降低。结论:在肺癌组织中GPM6A低表达为影响患者预后的不良因素之一,GPM6A可为预测肿瘤发生、转移及判断预后的有效分子标记物。  相似文献   
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本实验通过结扎沙土鼠双侧颈总动脉10分钟再灌流7天,造成海马迟发性神经元死亡(Delayed Neuronal Death,DND)模型,用海马CA_1区神经元密度作为指标,观察绞股蓝总皂甙(GPM)对海马DND的影响。NS组、GPM-I组和GPM-Ⅱ组的CA_1区神经元密度分别是107.50±6.63、146.18±19.75和165.30±9.24。GPM-I组、GPM—Ⅱ组与NS组比较P<0.01,P<0.0001。均有高度显著性差异。结果表明绞股蓝总皂甙对短暂性脑缺血后海马DND有明显保护作用。  相似文献   
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2263 randomly selected subjects, aged 15-19, 20-24, 25-29, 30-34, 35-44, 45-54, 55-64, and greater than 64 yr, were assessed for periodontal status, caries status and treatment needs using the Community Periodontal Index of Treatment Needs (CPITN), the ratio of Gingivitis: Periodontitis: Missing teeth (GPM/T index) and the DMF/T index. The advantages of full mouth examination were compared to partial recordings. The CPITN underestimated deep pocketing especially in older age groups and in younger groups overestimated the need for scaling. Although the mean GPM/T number of periodontally affected teeth is in the range of 9-13 teeth and stable throughout the age groups there were age-dependent high risk groups for developing shallow pocketing (20-24 yr) and deep pocketing (45-54 yr), whereas adolescents were at high caries risk. The increase in the number of missing teeth was dramatic after the age of 54 yr only one decade after the high risk age for deep pathologic pockets.  相似文献   
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