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2.090 Aktuelle Fachpublikationen zum Thema Addition

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Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria

22.11.2015 | Caitlin L. Hale, Adrienne N. Niederriter, Glenn E. Green, Donna M. Martin, American Journal of Medical Genetics Part A, 2015

CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary anomalies, and Ear malformations, including deafness and vestibular disorders) is a genetic condition characterized by a specific and recognizable ...


Black raspberries demethylate Sfrp4, a WNT pathway antagonist, in rat esophageal squamous cell papilloma

19.11.2015 | Yi‐Wen Huang, Fei Gu, Alan Dombkowski, Li‐Shu Wang, Gary D. Stoner, Molecular Carcinogenesis, 2015

Aberrant methylation of DNA is a common event in the development of cancers, including squamous cell carcinoma (SCC) of the human esophagus. In the present study, we determined: (a) whether aberrant DNA methylation also occurs in the development of N‐nitrosomethylbenzylamine (NMBA)‐induced ...


Molecular cloning and expression of a GABA receptor subunit from the crayfish Procambarus clarkii

18.11.2015 | Eric N. Jiménez‐Vázquez, Clara E. Díaz‐Velásquez, R.M. Uribe, Juan M. Arias, Ubaldo García, Journal of Neuroscience Research, 2015

Molecular cloning has introduced an unexpected, large diversity of neurotransmitter hetero‐ oligomeric receptors. Extensive research on the molecular structure of the γ‐aminobutyric acid receptor (GABAR) has been of great significance for understanding how the nervous system works in both ...


Methamphetamine induces the release of endothelin

16.11.2015 | Jeong‐Woo Seo, Susan M. Jones, Trisha A. Hostetter, Jeffrey J. Iliff, G. Alexander West, Journal of Neuroscience Research, 2015

Methamphetamine is a potent psychostimulant drug of abuse that increases release and blocks reuptake of dopamine, producing intense euphoria, factors that may contribute to its widespread abuse. It also produces severe neurotoxicity resulting from oxidative stress, DNA damage, blood–brain ...


The carbocyanine dye DiD labels in vitro and in vivo neural stem cells of the subventricular zone as well as myelinated structures following in vivo injection in the lateral ventricle

14.11.2015 | Dario Carradori, Kristell Barreau, Joël Eyer, Journal of Neuroscience Research, 2015

Carbocyanines are fluorescent lipophilic cationic dyes used since the early 1980s as neuronal tracers. Several applications of these compounds have been developed thanks to their low cell toxicity, lateral diffusion within the cellular membranes, and good photostability. ...


Artifacts Generated During Azoalkane Peroxy Radical Oxidative Stress Testing of Pharmaceuticals Containing Primary and Secondary Amines

13.11.2015 | Marcela Nefliu, Todd Zelesky, Patrick Jansen, Gregory W. Sluggett, Christopher Foti, Steven W. Baertschi, Paul A. Harmon, Journal of Pharmaceutical Sciences, 2015

We report artifactual degradation of pharmaceutical compounds containing primary and secondary amines during peroxy radical‐mediated oxidative stress carried out using azoalkane initiators. Two degradation products were detected when model drug compounds dissolved in methanol/water were heated ...


Effects of Myoga on Memory and Synaptic Plasticity by Regulating Nerve Growth Factor‐Mediated Signaling

13.11.2015 | Hyo Geun Kim, Soonmin Lim, Jongki Hong, Ae‐Jung Kim, Myung Sook Oh, Phytotherapy Research, 2015

The flower bud of Zingiber mioga Roscoe, known as ‘myoga’ or Japanese ginger, has a pungent aroma and is commonly consumed as a spice, with pickles, or as a health supplement in Eastern Asia. Here, we evaluated the activity of myoga in the brain, focusing especially on nerve growth factor (NGF), ...


Non‐invasive prenatal screening for trisomy 21: Consumers' perspectives

10.11.2015 | Emily C. Higuchi, Jane P. Sheldon, Brian J. Zikmund‐Fisher, Beverly M. Yashar, American Journal of Medical Genetics Part A, 2015

Non‐invasive prenatal screening (NIPS) has the potential to dramatically increase the prenatal detection rate of Down syndrome because of improvements in safety and accuracy over existing tests. There is concern that NIPS could lead to more negative attitudes towards Down syndrome and less ...


Identification and Characterization of Baicalin as a Phosphodiesterase 4 Inhibitor

09.11.2015 | Kyuhee Park, Jong Suk Lee, Jung Suk Choi, Yeon‐Ju Nam, Jong‐Heon Han, Hoo‐Dhon Byun, Myung‐Jin Song, Joa‐Sup Oh, Sun ..., Phytotherapy Research, 2015

Asthma is a chronic inflammatory disease of lung airways, and pharmacological inhibitors of cyclic adenosine monophosphate‐specific phosphodiesterase 4 (PDE4) have been considered as therapeutics for the treatment of asthma. However, development of PDE4 inhibitors in clinical trials has been ...


Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability

06.11.2015 | Yanjie Fan, Wenjuan Qiu, Lili Wang, Xuefan Gu, Yongguo Yu, American Journal of Medical Genetics Part A, 2015

Genomic rearrangements involving dosage change of genes have been implicated in a range of developmental disorders. Increasing evidences suggest copy number variations (CNVs) of autism susceptibility candidate gene 2 (AUTS2) are associated with a syndromic form of developmental delay and ...


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