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Aktuelle Fachpublikationen

Genetic and biochemical study of dual hereditary jaundice: Dubin|[ndash]|Johnson and Gilbert|[rsquo]|s syndromes. Haplotyping and founder effect of deletion in ABCC2

Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2 European Journal of Human Genetics 24, 1515 (October 2016). doi:10.1038/ejhg.2016.51 Authors: Lenka Slachtova, Ondrej S ... mehr

22 Years of predictive testing for Huntington|[rsquo]|s disease: the experience of the UK Huntington|[rsquo]|s Prediction Consortium

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium European Journal of Human Genetics 24, 1515 (October 2016). doi:10.1038/ejhg.2016.81 Authors: Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V ... mehr

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions European Journal of Human Genetics 24, 1516 (October 2016). doi:10.1038/ejhg.2016.96 Authors: Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra C G ... mehr

Links between Transcription, Environmental Adaptation and Gene Variability in Escherichia coli: Correlations between Gene Expression and Gene Variability Reflect Growth Efficie ...

Gene expression is known to be the principle factor explaining how fast genes evolve. Highly transcribed genes evolve slowly because any negative impact caused by a particular mutation is magnified by protein abundance. However, gene expression is a phenotype that depends both on the enviro ... mehr

Guidelines for diagnostic next-generation sequencing

Guidelines for diagnostic next-generation sequencing European Journal of Human Genetics 24, 1515 (October 2016). doi:10.1038/ejhg.2016.63 Authors: Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sisterman ... mehr

Alle Fachpublikationen

Genetic and biochemical study of dual hereditary jaundice: Dubin|[ndash]|Johnson and Gilbert|[rsquo]|s syndromes. Haplotyping and founder effect of deletion in ABCC2

Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2 European Journal of Human Genetics 24, 1515 (October 2016). doi:10.1038/ejhg.2016.51 Authors: Lenka Slachtova, Ondrej S ... mehr

22 Years of predictive testing for Huntington|[rsquo]|s disease: the experience of the UK Huntington|[rsquo]|s Prediction Consortium

22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium European Journal of Human Genetics 24, 1515 (October 2016). doi:10.1038/ejhg.2016.81 Authors: Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V ... mehr

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions European Journal of Human Genetics 24, 1516 (October 2016). doi:10.1038/ejhg.2016.96 Authors: Ramesh Reddy, Ngoc M P Nguyen, Guillaume Sarrabay, Maryam Rezaei, Mayra C G ... mehr

Guidelines for diagnostic next-generation sequencing

Guidelines for diagnostic next-generation sequencing European Journal of Human Genetics 24, 1515 (October 2016). doi:10.1038/ejhg.2016.63 Authors: Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sisterman ... mehr

The small RNA SraG participates in PNPase homeostasis [ARTICLE]

The rpsO-pnp operon encodes ribosomal protein S15 and polynucleotide phosphorylase, a major 3'–5' exoribonuclease involved in mRNA decay in Escherichia coli. The gene for the SraG small RNA is located between the coding regions of the rpsO and pnp genes, and it is transcribed in the opposit ... mehr

Alle Fachpublikationen zu Biotechnologie

Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

Abstract Objective The linkage between 17q12 microdeletions, renal anomalies and higher risk for neuro‐developmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal‐sized hyperechogenic fetal kidneys leading to the diagnosis of 17q ... mehr

Intra‐familial variability associated with recessive RYR1 mutation diagnosed antenatally by exome sequencing

Abstract Objective To determine the underlying molecular aetiology in a non‐consanguineous Irish family who have had three fetal losses due to a primary myopathy characterised by fetal akinesia, arthrogryposis multiplex, bilateral pulmonary hypoplasia and reduced muscle bulk. Meth ... mehr

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

Abstract Objective The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10‐16 weeks gestation using analysis by array comparative genomic hybridization (CGH) and/or next‐generation sequencing (NGS). ... mehr

Issue Information

No abstract is available for this article. mehr

In‐utero gratification behavior in male fetus.

Abstract Fetal masturbation has been described previously once in‐utero but only as a description of an action. Masturbation is well described in infancy and early childhood when they discover that this practice can give them pleasure. Our letter proves that it could begin in‐utero as a ... mehr

Alle Fachpublikationen zu Diagnostik

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 96, 934 (September 2016). doi:10.1038/labinvest.2016.92 mehr

Hypoxia-stimulated cardiac fibroblast production of IL-6 promotes myocardial fibrosis via the TGF-|[beta]|1 signaling pathway

Hypoxia-stimulated cardiac fibroblast production of IL-6 promotes myocardial fibrosis via the TGF-β1 signaling pathway Laboratory Investigation 96, 1035 (September 2016). doi:10.1038/labinvest.2016.84 Authors: Jia-Hong Wang, Lan Zhao, Xin Pan, Nan-Nan Chen, Jian Chen, ... mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 96, 818 (August 2016). doi:10.1038/labinvest.2016.79 mehr

Autofluorescence multiphoton microscopy for visualization of tissue morphology and cellular dynamics in murine and human airways

Autofluorescence multiphoton microscopy for visualization of tissue morphology and cellular dynamics in murine and human airways Laboratory Investigation advance online publication, July 11 2016. doi:10.1038/labinvest.2016.69 Authors: Sarah Kretschmer, Mario Pieper, Gereon Hüt ... mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 96, 706 (July 2016). doi:10.1038/labinvest.2016.67 mehr

Alle Fachpublikationen zu Labortechnik

State-Dependent Partial Occlusion of Cortical LTP-Like Plasticity in Major Depression

State-Dependent Partial Occlusion of Cortical LTP-Like Plasticity in Major Depression Neuropsychopharmacology 41, 2794 (October 2016). doi:10.1038/npp.2016.97 Authors: Marion Kuhn, Florian Mainberger, Bernd Feige, Jonathan G Maier, Volker Mall, Nicolai H Jung, Janine R ... mehr

Graphical Abstracts:

This article is currently available as a free download on Ingenta Connect mehr

Natural Product-Derived Spirooxindole Fragments Serve as Privileged Substructures for Discovery of New Anticancer Agents

Abstract: The utility of natural products for identifying anticancer agents has been highly pursued in the last decades and over 100 drug molecules in clinic are natural products or natural product-derived compounds. Natural products are believed to be able to cover unexplored chemical spa ... mehr

Synthesis of Diflunisal Thiazolidinones as Anticancer Agents

Abstract: A series of diflunisal 4-thiazolidinones were synthesized. Some selected compounds were determined at one dose towards the full panel of 60 human cancer cell lines by National Cancer Institute. 2',4'-Difluoro-4-hydroxy-N-[4-oxo-2-(thiophen-2-yl)-1,3-thiazolidin-3-yl]biphenyl- 3-c ... mehr

Quinoxaline Nucleus: A Promising Scaffold in Anti-cancer Drug Discovery

Abstract: Heterocyclic compounds are a class of substances, which play a critical role in modern drug discovery being incorporated in the structure of a large variety of drugs used in many different types of diseases. Quinoxaline is an important heterocyclic nucleus with a wide spectrum of ... mehr

Alle Fachpublikationen zu Pharma

Comparative study of mobile phone emitted EM waves on human brain at different charging levels

Comparative study of mobile phone emitted EM waves on human brain at different charging levelsSavita Rathee; Manoj DuhanInternational Journal of Biomedical Engineering and Technology, Vol. 22, No. 2 (2016) pp. 178 - 188Vast advances in communication technology have made mobile phone an impo ... mehr

Correction: A dietary supplement for SUDEP prevention?

Nature Reviews Neurology. doi:10.1038/nrneurol.2016.141 Author: Gordon F. Buchanan & George B. Richerson mehr

Non‐linear effects of potassium channel blockers on endothelium‐dependent hyperpolarization

Abstract In a number of published studies on endothelium‐dependent hyperpolarization and relaxation, the results of the effects of K+ blockers have been difficult to interpret. When the effects of two blockers have been studied, often either blocker by itself had little effect, whereas t ... mehr

Chaperones as potential therapeutics for Krabbe disease

Krabbe's disease (KD) is an autosomal recessive, neurodegenerative disorder. It is classified among the lysosomal storage diseases (LSDs). It was first described in , but the genetic defect for the galactocerebrosidase (GALC) gene was not discovered until the beginning of the 1970s, 20 year ... mehr

Hematopoietic Stem cell transplantation and lentiviral vector‐based gene therapy for Krabbe's disease: Present convictions and future prospects

Currently, presymtomatic hematopoietic stem and progenitor cell transplantation (HSPCT) is the only therapeutic modality that alleviates Krabbe's disease (KD)‐induced central nervous system damage. However, all HSPCT‐treated patients exhibit severe deterioration in peripheral nervous system ... mehr

Alle Fachpublikationen zu Medizin
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