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15.862 Aktuelle Fachpublikationen zum Thema Addition

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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

15.04.2015 | Chengliang Dong; Peng Wei; Xueqiu Jian; Richard Gibbs; Eric Boerwinkle; Kai Wang; Xiaoming Liu, Human Molecular Genetics, 2015

Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing pathogenic mutations from background polymorphisms in whole exome sequencing (WES) studies. Although many deleteriousness prediction methods have been developed, their prediction results are sometimes ...

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Antitumor properties of a new non-anticoagulant heparin analog from the mollusk Nodipecten nodosus: Effect on P-selectin, heparanase, metastasis and cellular recruitment

01.04.2015 | Angélica Maciel Gomes; Eliene Oliveira Kozlowski; Lubor Borsig; Felipe C O B Teixeira; Israel Vlodavsky; Mauro S G Pavão, Glycobiology , 2015

Inflammation and cancer are related pathologies acting synergistically to promote tumor progression. In both, hematogenous metastasis and inflammation, P-selectin participates in interactions involving tumor cells, platelets, leukocytes and endothelium. Heparin has been shown to inhibit ...

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Enzymatic properties and subtle differences in the substrate specificity of phylogenetically distinct invertebrate N-glycan processing hexosaminidases

01.04.2015 | Martin Dragosits; Shi Yan; Ebrahim Razzazi-Fazeli; Iain B H Wilson; Dubravko Rendic, Glycobiology , 2015

Fused lobes (FDL) hexosaminidases are the most recently genetically defined glycosidases involved in the biosynthesis of N-glycans in invertebrates, and their narrow specificity is essential for the generation of paucimannosidic N-glycans in insects. In this study, we explored the potential of ...

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Fragile X-like behaviors and abnormal cortical dendritic spines in Cytoplasmic FMR1-interacting protein 2-mutant mice

01.04.2015 | Kihoon Han; Hogmei Chen; Vincenzo A. Gennarino; Ronald Richman; Hui-Chen Lu; Huda Y. Zoghbi, Human Molecular Genetics, 2015

Silencing of fragile X mental retardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disability and autistic behaviors. FMRP is an mRNA-binding protein regulating neuronal translation of ...

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The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy

01.04.2015 | Nathalie Vadrot; Isabelle Duband-Goulet; Eva Cabet; Wikayatou Attanda; Alice Barateau; Patrick Vicart; Fabien Gerbal ..., Human Molecular Genetics, 2015

Nuclear lamins are involved in many cellular functions due to their ability to bind numerous partners including chromatin and transcription factors, and affect their properties. Dunnigan type familial partial lipodystrophy (FPLD2; OMIM#151660) is caused in most cases by the A-type lamin R482W ...

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Synthesis and Anticancer Activity Evaluation of Some Benzothiazole-Piperazine Derivatives

25.03.2015 | Ece Gurdal, Enise; Buclulgan, Ebru; Durmaz, Irem; Cetin-Atalay, Rengul; Yarim, Mine, Anti-Cancer Agents in Medicinal Chemistry , 2015

Abstract: Synthesis, characterization and cytotoxic activities of ten benzothiazole-piperazine derivatives were reported. In vitro cytotoxic activities of compounds were screened against hepatocellular (HUH-7), breast (MCF-7) and colorectal (HCT-116) cancer cell lines by sulphorhodamine B ...

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Distinctive Phenotype Identification for Breast Cancer Genotypes Among Hereditary Breast Cancer Mutated Genes

25.03.2015 | Rafiul Hassan, Md.; ul Haq, Imran; Ramadan, Emad; Kamruzzaman, Joarder; F. Ahmed, Adel, Current Bioinformatics, 2015

Abstract: It is well known that the mutations in BRCA1 or BRCA2 gene can cause the hereditary breast cancer. However, it is a tedious and expensive task to identify the mutant genes that impact breast cancer due to the large number of genes and very small number of samples. Furthermore, the ...

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Dynamical Behaviors of the Transcriptional Network Including REST and miR-21 in Embryonic Stem Cells

23.03.2015 | He, Qinbin; Liu, Zengrong, Current Bioinformatics, 2015

Abstract: Recently several experiments have shown that REST is bound to the chromatin of miR-21, and miR-21 inhibits the self-renewal of mouse embryonic stem (ES) cells by decreasing the expression of SOX2, NANOG and OCT4. Thus, REST is believed to be a core transcription factor together ...

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Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene

22.03.2015 | Megan Beck, Jess F. Peterson, Juliann McConnell, Marianne McGuire, Miya Asato, Joseph E. Losee, Urvashi Surti, Sunee ..., American Journal of Medical Genetics Part A, 2015

Deletions spanning the MN1 gene (22q12.1) have recently been proposed as playing a role in craniofacial abnormalities that include cleft palate, as mouse studies have demonstrated that Mn1 haploinsufficiency results in skull abnormalities and secondary cleft palate. We report on four patients ...

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Development of genome‐wide insertion/deletion markers in rice based on graphic pipeline platform

21.03.2015 | Yang Lü, Xiao Cui, Rui Li, Piaopiao Huang, Jie Zong, Danqing Yao, Gang Li, Dabing Zhang, Zheng Yuan, Journal of Integrative Plant Biology, 2015

Abstract DNA markers play important roles in plant breeding and genetics. Insertion/Deletion (InDel) marker is one kind of co‐dominant DNA markers widely used since low cost and high precision. However, canonical way of searching for InDel markers is time‐consuming and labor‐intensive. We ...

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