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Aktuelle Fachpublikationen

Prenatal exposure to maternal smoking and offspring DNA methylation across the lifecourse: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC)

Maternal smoking during pregnancy has been found to influence newborn DNA methylation in genes involved in fundamental developmental processes. It is pertinent to understand the degree to which the offspring methylome is sensitive to the intensity and duration of prenatal smoking. An invest ... mehr

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

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 sometim ... mehr

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome

T-box transcription factor TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS, DiGeorge syndrome/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and cleft palate. In this study, Tbx1 was conditionally deleted or ... mehr

Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration

Mutations in components of the molecular motor dynein/dynactin lead to neurodegenerative diseases of the motor system or atypical parkinsonism. These mutations are associated with prominent accumulation of vesicles involved in autophagy and lysosomal pathways, and with protein inclusions. W ... mehr

Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

Charcot-Marie-Tooth disease (CMT) is the most commonly inherited neurological disorder with a prevalence of 1 in 2500 people worldwide. Patients suffer from degeneration of the peripheral nerves that control sensory information of the foot/leg and hand/arm. Multiple mutations in the neurofi ... mehr

Alle Fachpublikationen

Prenatal exposure to maternal smoking and offspring DNA methylation across the lifecourse: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC)

Maternal smoking during pregnancy has been found to influence newborn DNA methylation in genes involved in fundamental developmental processes. It is pertinent to understand the degree to which the offspring methylome is sensitive to the intensity and duration of prenatal smoking. An invest ... mehr

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

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 sometim ... mehr

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome

T-box transcription factor TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS, DiGeorge syndrome/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and cleft palate. In this study, Tbx1 was conditionally deleted or ... mehr

Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration

Mutations in components of the molecular motor dynein/dynactin lead to neurodegenerative diseases of the motor system or atypical parkinsonism. These mutations are associated with prominent accumulation of vesicles involved in autophagy and lysosomal pathways, and with protein inclusions. W ... mehr

Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

Charcot-Marie-Tooth disease (CMT) is the most commonly inherited neurological disorder with a prevalence of 1 in 2500 people worldwide. Patients suffer from degeneration of the peripheral nerves that control sensory information of the foot/leg and hand/arm. Multiple mutations in the neurofi ... mehr

Alle Fachpublikationen zu Biotechnologie

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

Clinical Utility of Fetal Autopsy and its Impact on Genetic Counseling

Abstract Objectives We aimed to analyze the utility of fetal autopsy in terms of its contribution to establishing a definitive diagnosis and its impact on genetic counseling. Subjects and Methods Detailed fetal autopsy was carried out in fetuses referred for examination. Clinica ... mehr

Severe X‐linked chondrodysplasia punctata in 9 new female fetuses

ABSTRACT Objectives Conradi‐Hünermann‐Happle (CDPX2) syndrome is a rare X‐linked dominant skeletal dysplasia usually lethal in males while affected females show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with ... mehr

Does prenatal MRI enhances fetal diagnosis of intra‐abdominal cysts?

ABSTRACT Objective The aim of this study was to evaluate the contribution of prenatal magnetic resonance imaging (MRI) to ultrasound (US) in the prenatal diagnosis of intra‐abdominal cystic masses, correlated with the postnatal diagnosis. Methods In this retrospective, observati ... mehr

Detection of fetal chromosomal anomalies: does Nuchal Translucency measurement have an added value in the era of Non‐Invasive Prenatal Testing?

Abstract Objectives To determine what percentage of fetal chromosomal anomalies remains undetected when first trimester combined testing is replaced by non‐invasive prenatal testing (NIPT) for trisomy 13, 18 and 21. We focused on the added clinical value of the nuchal translucency (NT) ... 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

Postmortem Brain: An Underutilized Substrate for Studying Severe Mental Illness

Postmortem Brain: An Underutilized Substrate for Studying Severe Mental Illness Neuropsychopharmacology 40, 1307 (April 2015). doi:10.1038/npp.2014.337 Authors: Robert E McCullumsmith, John H Hammond, Dan Shan & James H Meador-Woodruff Keywords: mehr

Graphical Abstract:

This article is currently available as a free download on ingentaconnect mehr

Synthesis and Anticancer Activity Evaluation of Some Benzothiazole-Piperazine Derivatives

Abstract: Synthesis, characterization and cytotoxic activities of ten benzothiazole-piperazine derivatives were reported. In vitro cytotoxic activities of compounds were screened against hepatocellular (HUH-7), breast (MCF-7) and colorectal (HCT-116) cancer cell lines by sulphorhodamine B ... mehr

Identification and Characterization of the Biosynthetic Gene Cluster of Thiolutin, a Tumor Angiogenesis Inhibitor, in Saccharothrix algeriensis NRRL B-24137

Abstract: In this study, a new dithiolopyrrolone biosynthetic pathway was identified in Saccharothrix algeriensis NRRL B-24137, which was reported to produce a variety of dithiolopyrrolone natural products including thiolutin, a potential drug candidate for tumor angiogenesis inhibition. B ... mehr

PreQ0 Base, an Unusual Metabolite with Anti-cancer Activity from Streptomyces qinglanensis 172205

Abstract: PreQ0 base (7-cyano-7-deazaguanine, compound 1) is the biosynthetic precursor of queuosine-tRNA and important synthetic intermediate for bioactive compounds. It was obtained for the first time as a new natural product from a mangrove actinomycete Streptomyces qinglanensis 172205, ... mehr

Alle Fachpublikationen zu Pharma

Leonard C. Harber (1927|[ndash]|2014)

Leonard C. Harber (1927–2014) Journal of Investigative Dermatology 135, 935 (April 2015). doi:10.1038/jid.2014.550 Author: David R Bickers mehr

BJD Editor's Choice

BJD Editor's Choice Journal of Investigative Dermatology 135, 933 (April 2015). doi:10.1038/jid.2015.34 mehr

Announcement: double-blind peer review

Nature Immunology 16, 327 (2015). doi:10.1038/ni.3129 Nature and its sister journals start offering anonymity to authors during the peer-review process. mehr

Spatial cognition in bats and rats: from sensory acquisition to multiscale maps and navigation

Nature Reviews Neuroscience 16, 244 (2015). doi:10.1038/nrn3931 Author: Maya Geva-Sagiv, Liora Las, Yossi Yovel & Nachum Ulanovsky Nature Reviews Neuroscience16, 94–108 (2015)On page 97 of the above article, the final line of the text of Box 1 should have read 'The figure ... mehr

Montagna Symposium 2014|[mdash]|Skin Aging: Molecular Mechanisms and Tissue Consequences

Montagna Symposium 2014—Skin Aging: Molecular Mechanisms and Tissue Consequences Journal of Investigative Dermatology 135, 950 (April 2015). doi:10.1038/jid.2014.546 Authors: Barbara A Gilchrest, Judith Campisi, Howard Y Chang, Gary J Fisher & Molly F Kulesz-Martin mehr

Alle Fachpublikationen zu Medizin
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