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Aktuelle Fachpublikationen

FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation

Aberrant fibroblast growth factor receptor 3 (FGFR3) signaling disrupts chondrocyte proliferation and growth plate size and architecture, leading to various chondrodysplasias or bone overgrowth. These observations suggest that the duration, intensity and cellular context of FGFR signaling d ... mehr

The FTMap family of web servers for determining and characterizing ligand-binding hot spots of proteins

Nature Protocols 10, 733 (2015). doi:10.1038/nprot.2015.043 Authors: Dima Kozakov, Laurie E Grove, David R Hall, Tanggis Bohnuud, Scott E Mottarella, Lingqi Luo, Bing Xia, Dmitri Beglov & Sandor Vajda FTMap is a computational mapping server that identifies binding hot spo ... mehr

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

Hearing loss is the most common sensory deficit in humans. We show that a point mutation in DCDC2 (DCDC2a), a member of doublecortin domain-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family. Using immunofluorescence on rat inner ear neuroepi ... mehr

Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle

Loss of gamma-sarcoglycan (-SG) induces muscle degeneration and signaling defects in response to mechanical load, and its absence is common to both Duchenne and limb girdle muscular dystrophies. Growing evidence suggests that aberrant signaling contributes to the disease pathology; however, ... mehr

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

Primary open-angle glaucoma (POAG) is a blinding disease. Two important risk factors for this disease are a positive family history and elevated intraocular pressure (IOP), which is also highly heritable. Genes found to date associated with IOP and POAG are ABCA1, CAV1/CAV2, GAS7 and TMCO1. ... mehr

Alle Fachpublikationen

FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation

Aberrant fibroblast growth factor receptor 3 (FGFR3) signaling disrupts chondrocyte proliferation and growth plate size and architecture, leading to various chondrodysplasias or bone overgrowth. These observations suggest that the duration, intensity and cellular context of FGFR signaling d ... mehr

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

Hearing loss is the most common sensory deficit in humans. We show that a point mutation in DCDC2 (DCDC2a), a member of doublecortin domain-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family. Using immunofluorescence on rat inner ear neuroepi ... mehr

Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle

Loss of gamma-sarcoglycan (-SG) induces muscle degeneration and signaling defects in response to mechanical load, and its absence is common to both Duchenne and limb girdle muscular dystrophies. Growing evidence suggests that aberrant signaling contributes to the disease pathology; however, ... mehr

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

Primary open-angle glaucoma (POAG) is a blinding disease. Two important risk factors for this disease are a positive family history and elevated intraocular pressure (IOP), which is also highly heritable. Genes found to date associated with IOP and POAG are ABCA1, CAV1/CAV2, GAS7 and TMCO1. ... mehr

Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells

Friedreich ataxia (FA), the most common inherited autosomal-recessive ataxia in Caucasians, is characterized by progressive degeneration of the central and peripheral nervous system, hypertrophic cardiomyopathy and increased incidence of diabetes. FA is caused by a GAA repeat expansion in t ... mehr

Alle Fachpublikationen zu Biotechnologie

Analysis of false‐positive results of fetal RHD typing in a national screening program reveals vanishing twins as potential cause for discrepancy

Abstract Objectives To elucidate causes of false‐positive fetal RHD screening results obtained with cell‐free DNA. Methods Fetal RHD screening was performed in 32,222 samples from RhD negative women by multiplex real‐time‐PCR in triplicate for RHD‐exons 5 and 7 using cell‐free D ... mehr

Incorporation of Dried Blood Alpha‐Fetoprotein into Traditional First Trimester Down syndrome Screening Service

Abstract Objective To determine whether incorporation of dried blood AFP into first trimester screening using the biochemical markers free Beta hCG and PAPP‐A can improve screening performance Methods A retrospective study of 34 Down syndrome and 1185 unaffected dried blood spec ... mehr

Abnormal sonographic appearance of posterior brain at 11‐14 weeks and fetal outcome

Abstract Objective The aim of this retrospective study was to describe the sonographic appearance of the posterior brain anatomy in normal fetuses at 11 to 14 weeks of pregnancy and to determine the fetal outcome when one of the posterior brain anatomical space is not recognized. ... mehr

A First Look at Women's Perspectives on Noninvasive Prenatal Testing to Detect Sex Chromosome Aneuploidies and Microdeletion Syndromes

Abstract Objective To explore women's opinions about the use of noninvasive prenatal testing (NIPT) to assess the risk of sex chromosome aneuploidies and microdeletion syndromes. Methods Focus groups were conducted with women who were currently pregnant or had recently delivered ... mehr

Retrospective analysis of Prenatal Ultrasound of Children with Hirschsprung Disease

Abstract Objective Hirschsprung disease (HD) is a rare gastrointestinal disorder. Our aim was to study the prenatal ultrasound findings of children who were diagnosed with HD after birth. Methods The study population included children who suffered from HD between 1990 and 2008. ... mehr

Alle Fachpublikationen zu Diagnostik

Immunohistochemistry and mass spectrometry for highly multiplexed cellular molecular imaging

Immunohistochemistry and mass spectrometry for highly multiplexed cellular molecular imaging Laboratory Investigation advance online publication, March 2 2015. doi:10.1038/labinvest.2015.2 Authors: Richard M Levenson, Alexander D Borowsky & Michael Angelo mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 95, 248 (March 2015). doi:10.1038/labinvest.2015.31 mehr

Application of GFP imaging in cancer

Application of GFP imaging in cancer Laboratory Investigation advance online publication, February 16 2015. doi:10.1038/labinvest.2014.154 Author: Robert M Hoffman mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 95, 122 (February 2015). doi:10.1038/labinvest.2014.164 mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 95, 2 (January 2015). doi:10.1038/labinvest.2014.152 mehr

Alle Fachpublikationen zu Labortechnik

Biomimetic PVPA in vitro model for estimation of the intestinal drug permeability using fasted and fed state simulated intestinal fluids

Publication date: 20 June 2015 Source:European Journal of Pharmaceutical Sciences, Volume 73 Author(s): Elenaz Naderkhani , Terje Vasskog , Gøril Eide Flaten A prerequisite for successful oral drug therapy is the drug’s ability to cross the gastrointestinal barrier. Considering the ... mehr

A data mining approach to optimize pellets manufacturing process based on a decision tree algorithm

Publication date: 20 June 2015 Source:European Journal of Pharmaceutical Sciences, Volume 73 Author(s): Joanna Ronowicz , Markus Thommes , Peter Kleinebudde , Jerzy Krysiński The present study is focused on the thorough analysis of cause–effect relationships between pellet formula ... mehr

New Benzimidazoles and Their Antitumor Effects with Aurora A Kinase and KSP Inhibitory Activities

A newly synthesized series of anticancer compounds comprising thiazolo[3,2‐a]pyrimidine derivatives 6a–q bearing a benzimidazole moiety was produced a via one‐pot reaction of N‐(4‐(1H‐benzo[d]imidazol‐2‐yl)phenyl)‐2‐cyanoacetamide 5 with 2‐aminothiazole and an appropriate aromatic aldehyde. ... mehr

Biosimilar: what it is not

A biosimilar is a high‐quality biological medicine shown to be equivalent to an original product. The European Medicines Agency (EMA) paved the way in the regulatory arena by creating a safeguarding framework for biosimilars development. Biosimilar is thus a regulatory term that alludes to ... mehr

A retrospective study of the prescribing and outcomes of tyrosine kinase inhibitors in chronic myeloid leukaemia over a period of more than 10 years

Summary What is known and objective Since their introduction, tyrosine kinase inhibitors (TKIs) have been increasingly used in clinical practice. We describe the prescribing and the clinical and biological consequences of two such inhibitors, imatinib and erlotinib, in patients with ch ... mehr

Alle Fachpublikationen zu Pharma

Belinostat, a potent HDACi, exerts antileukaemic effect in human acute promyelocytic leukaemia cells via chromatin remodelling

Abstract Epigenetic changes play a significant role in leukaemia pathogenesis, therefore histone deacetylases (HDACis) are widely accepted as an attractive strategy for acute promyelocytic leukaemia (APL) treatment. Belinostat (Bel, PXD101), a hydroxamate‐type HDACi, has proved to be a p ... mehr

Sustained activation of GABAA receptors in the suprachiasmatic nucleus mediates light‐induced phase delays of the circadian clock: a novel function of ionotropic receptors

Abstract The suprachiasmatic nucleus (SCN) contains a circadian clock that generates endogenous rhythmicity and entrains that rhythmicity with the day‐night cycle. The neurochemical events that transduce photic input within the SCN and mediate entrainment by resetting the molecular clock ... mehr

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders

A 7‐year‐old female with developmental delay (DD), autism spectrum disorder (ASD), intellectual disability (ID), attention deficit hyperactivity disorder (ADHD), and seizures was referred to our laboratory for oligomicroarray analysis. The analysis revealed a 540 kb microdeletion in the chr ... mehr

Exercise modality effect on VO2 off‐transient kinetics at VO2max intensity

The kinetics of oxygen uptake (VO2) during recovery (off‐transient kinetics) to different exercise modes is largely unexplored, hampering the prescription of training/ recovery to enhance performance. The purpose of this study was to compare the VO2 off‐transient kinetics response between s ... mehr

Correction: The Arabidopsis miR472-RDR6 Silencing Pathway Modulates PAMP- and Effector-Triggered Immunity through the Post-transcriptional Control of Disease Resistance Genes

by Martine Boccara, Alexis Sarazin, Odon Thiébeauld, Florence Jay, Olivier Voinnet, Lionel Navarro, Vincent Colot mehr

Alle Fachpublikationen zu Medizin
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