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1.654 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 ...


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 ...


Conserved ion and amino acid transporters identified as phosphorylcholine-modified N-glycoproteins by metabolic labeling with propargylcholine in Caenorhabditis elegans cells

01.04.2015 | Casey J Snodgrass; Amanda R Burnham-Marusich; John C Meteer; Patricia M Berninsone, Glycobiology , 2015

Phosphorylcholine (PC) modification of proteins by pathogens has been implicated in mediating host–pathogen interactions. Parasitic nematodes synthesize PC-modified biomolecules that can modulate the host's antibody and cytokine production to favor nematode survival, contributing to long-term ...


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 ...


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 ...


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 ...


Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci

15.03.2015 | Meian He; Min Xu; Ben Zhang; Jun Liang; Peng Chen; Jong-Young Lee; Todd A. Johnson; Huaixing Li; Xiaobo Yang; Junche ..., Human Molecular Genetics, 2015

Human height is associated with risk of multiple diseases and is profoundly determined by an individual's genetic makeup and shows a high degree of ethnic heterogeneity. Large-scale genome-wide association (GWA) analyses of adult height in Europeans have identified nearly 180 genetic loci. A ...


Nuclear TDP-43 causes neuronal toxicity by escaping from the inhibitory regulation by hnRNPs

15.03.2015 | Hiroaki Suzuki; Yoshio Shibagaki; Seisuke Hattori; Masaaki Matsuoka, Human Molecular Genetics, 2015

Dysregulation of transactive response DNA-binding protein-43 (TDP-43) is thought to be linked to the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). TDP-43 normally localizes in the nucleus but its main localization shifts to the cytoplasm in most ...


Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

15.03.2015 | Aiden Eblimit; Thanh-Minh T. Nguyen; Yiyun Chen; Julian Esteve-Rudd; Hua Zhong; Stef Letteboer; Jeroen Van Reeuwijk; ..., Human Molecular Genetics, 2015

Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in infants and children. SPATA7 has recently been identified as the LCA3 and juvenile RP gene in humans, whose function in the retina remains elusive. Here, we show ...


Loss of the thyroid hormone-binding protein Crym renders striatal neurons more vulnerable to mutant huntingtin in Huntington's disease

15.03.2015 | Laetitia Francelle; Laurie Galvan; Marie-Claude Gaillard; Martine Guillermier; Diane Houitte; Gilles Bonvento; Fanny ..., Human Molecular Genetics, 2015

The mechanisms underlying preferential atrophy of the striatum in Huntington's disease (HD) are unknown. One hypothesis is that a set of gene products preferentially expressed in the striatum could determine the particular vulnerability of this brain region to mutant huntingtin (mHtt). Here, we ...


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