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POSTER PRESENTATION Fragment-based identification of multi-target ligands by self-organizing map alignment Open Access
, 2011
"... In the recent years the prevalent paradigm in drug discovery of „one drug – one target – one disease“, following the assumption that highly selective ligands would avoid unwandted side effects caused by binding to seconday non-theratpeutic targets, got reconsidered. The results of post-genomic and n ..."
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activity on each target as well as an adequate pharmacokinetic profile [5]. Early design strategies tried to link the pharmacophors of known inhibitors, however these methods often lead to high molecular weight and low ligand efficiency. We present a new approach based on self-organizing maps [3,6] (SOM
Glycans in melanoma screening. Part 1. The role of β1,6-branched N-linked oligosaccharides in melanoma melanoma
"... Abstract Melanoma, which is one of the most aggressive human tumours, originates from melanin-producing melanocytes. As no effective systemic therapy exists for advanced-stage melanoma, the best chance of recovery remains surgical removal of thin early-stage melanoma. Aberrant glycosylation is a ha ..."
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tool for the early diagnosis of the disease, or a target-specific therapeutic agent. Melanoma: a challenge for glycomics Melanoma (melanoma malignum) is one of the most aggressive human tumours and originates from melanocytes that are responsible for the production of melanin. As such cells are found
Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model
- PLoS ONE
, 2011
"... Rett syndrome (RTT) is an autism spectrum developmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2(MECP2) gene. Excellent RTT mouse models have been created to study the disease mechanisms, leading to many important findings with potential therapeutic implications. The ..."
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Cited by 15 (1 self)
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Rett syndrome (RTT) is an autism spectrum developmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2(MECP2) gene. Excellent RTT mouse models have been created to study the disease mechanisms, leading to many important findings with potential therapeutic implications
Ten Years and Counting: Moving Leucine-Rich Repeat Kinase 2 Inhibitors to the Clinic
"... A B S T R AC T : The burden that Parkinson's disease (PD) exacts on the population continues to increase year after year. Though refinement of symptomatic treatments continues at a reasonable pace, no accepted therapies are available to slow or prevent disease progression. The leucine-rich rep ..."
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Cited by 1 (0 self)
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, and associated presentation of the inherited disease in carriers is highly variable. The remarkably high frequencies of LRRK2 mutations in late-onset PD have allowed unprecedented insight into LRRK2-linked phenotypes. Two salient features have emerged: First, there are no reliable clinical measures or tests
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
- Nat. Genet.
, 2013
"... Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,00 cases and 6,243 controls) followed by meta-analysis with ..."
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Cited by 32 (1 self)
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for a different therapeutic indication could be repurposed for the treatment of schizophrenia. For example, there has been at least one clinical trial of the efficacy of isradipine in bipolar disorder (an approved antihypertensive acting at the protein product of CACNA1C; R. Perlis, personal
Research Article A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene
"... Copyright © 2014 Francisco R. Maŕın-Mart́ın et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Disease phenotypes and defects in ..."
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to disease, determinate molecular and therapeutic targets, and predict clinical phenotypes. In this study using PolyPhen2 andMutPred in silico algorithms, we analyzed the genetic variations that can alter the expression and function of the ABCA1 gene that causes the allelic disorders familial
Distinct Phenotypic Differences Associated with Differential Amplification of Receptor Tyrosine Kinase Genes at 4q12 in Glioblastoma
"... Gene amplification at chromosome 4q12 is a common alteration in human high grade gliomas including glioblastoma, a CNS tumour with consistently poor prognosis. This locus harbours the known oncogenes encoding the receptor tyrosine kinases PDGFRA, KIT, and VEGFR2. These receptors are potential target ..."
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Cited by 1 (0 self)
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targets for novel therapeutic intervention in these diseases, with expression noted in tumour cells and/or associated vasculature. Despite this, a detailed assessment of their relative contributions to different high grade glioma histologies and the underlying heterogeneity within glioblastoma has been
unknown title
"... Autistic disorder is the most severe end of a group of neurodevelopmental disorders referred to as autism spectrum disorders (ASDs), which share the common feature of dysfunctional reciprocal social interaction. A meta-analysis of ASD prevalence rates suggests that approximately 37 in 10,000 indivi ..."
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SNPs appear to be intronic -the met proto-oncogene (MET) promoter variant 70 is an important exception -suggests that substantial work will be required to understand how disease-linked variants modulate clinical phenotypes. Genes for which rare ASD-linked mutations have been identified have not been
Gene-environment interaction and the genetics of depression
- J Psychiatry Neurosci
, 2004
"... Depression is a group of brain disorders with varied origins, complex genetics and obscure neurobiology. Definitions of clinical phenotypes are not rooted in their neurobiology, and animal models of behavioural despair have considerable limitations. Nevertheless, investigation of subtle alterations ..."
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Cited by 4 (0 self)
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Depression is a group of brain disorders with varied origins, complex genetics and obscure neurobiology. Definitions of clinical phenotypes are not rooted in their neurobiology, and animal models of behavioural despair have considerable limitations. Nevertheless, investigation of subtle
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