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Aktuelle Fachpublikationen

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome are the most frequent. Here, we describe the first germinal pathogenic mutation in the NDUFA13/GRIM19 gene encoding a CI subunit, i ... mehr

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability

Mutations in the gene for the latent transforming growth factor beta binding protein 4 (LTBP4) cause autosomal recessive cutis laxa type 1C. To understand the molecular disease mechanisms of this disease, we investigated the impact of LTBP4 loss on transforming growth factor beta (TGFβ) sig ... mehr

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intraflagellar transport protein 121 (IF ... mehr

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1–2% of children and adults, and is characterized by deficits in verbal and non-verbal communi ... mehr

Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-models

We explore the prediction of individuals' phenotypes for complex traits using genomic data. We compare several widely used prediction models, including Ridge Regression, LASSO and Elastic Nets estimated from cohort data, and polygenic risk scores constructed using published summary statisti ... mehr

Alle Fachpublikationen

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome are the most frequent. Here, we describe the first germinal pathogenic mutation in the NDUFA13/GRIM19 gene encoding a CI subunit, i ... mehr

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability

Mutations in the gene for the latent transforming growth factor beta binding protein 4 (LTBP4) cause autosomal recessive cutis laxa type 1C. To understand the molecular disease mechanisms of this disease, we investigated the impact of LTBP4 loss on transforming growth factor beta (TGFβ) sig ... mehr

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intraflagellar transport protein 121 (IF ... mehr

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

Despite significant progress in the genetics of autism spectrum disorder (ASD), how genetic mutations translate to the behavioral changes characteristic of ASD remains largely unknown. ASD affects 1–2% of children and adults, and is characterized by deficits in verbal and non-verbal communi ... mehr

Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-models

We explore the prediction of individuals' phenotypes for complex traits using genomic data. We compare several widely used prediction models, including Ridge Regression, LASSO and Elastic Nets estimated from cohort data, and polygenic risk scores constructed using published summary statisti ... mehr

Alle Fachpublikationen zu Biotechnologie

Placental vascular indices (VI, FI and VFI) in intrauterine growth retardation (IUGR). A pooled analysis of the literature.

Abstract Objective I performed a systematic review and pooled analysis to study the utility of the placental vascular flow indices vascularization index (VI), flow index (FI), and vascularization flow index (VFI) in the prediction or identification of in‐utero growth restriction (IUGR) ... mehr

A review of pregnancies complicated by congenital sacrococcygeal teratoma in the West Midlands region over an 18‐year period: population‐based, cohort study.

Abstract Objectives To describe the epidemiology and outcomes of Sacrococcygeal Teratoma (SCT) and identify the factors affecting prognosis in a population‐based cohort. Methods Analyses of fetal SCTs from a population‐based congenital anomaly register between 1995–2012, linked ... mehr

Cell‐free DNA Screening and Sex Chromosome Abnormalities

Abstract Cell‐free DNA (cf DNA) testing is increasingly being used to screen pregnant women for fetal aneuploidies. This technology may also identify fetal sex and can be used to screen for sex chromosome abnormalities (SCAs). Physicians offering this screening will need to be prepared t ... mehr

Clinical outcome of subchromosomal events detected by whole‐genome noninvasive prenatal testing

Abstract Objective A novel algorithm to identify fetal microdeletion events in maternal plasma has been developed and used in clinical laboratory‐based non‐invasive prenatal testing (NIPT). We used this approach to identify the subchromosomal events 5pdel, 22q11del, 15qdel, 1p36del, 4p ... mehr

Global perspectives on clinical adoption of NIPT

Abstract Objective The goals of this study were to assess global trends in clinical implementation of Noninvasive Prenatal Testing (NIPT) as commercial tests are marketed increasingly worldwide, and to identify potential challenges for current or future use. Methods We surveyed ... mehr

Alle Fachpublikationen zu Diagnostik

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 95, 700 (July 2015). doi:10.1038/labinvest.2015.75 mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 95, 574 (June 2015). doi:10.1038/labinvest.2015.65 mehr

Classification of malignant and benign tumors of the lung by infrared spectral histopathology (SHP)

Classification of malignant and benign tumors of the lung by infrared spectral histopathology (SHP) Laboratory Investigation 95, 697 (June 2015). doi:10.1038/labinvest.2015.55 Authors: Ali Akalin, Xinying Mu, Mark A Kon, Ayşegül Ergin, Stan H Remiszewski, Clay M Thomps ... mehr

Serum amyloid A and inflammation in diabetic kidney disease and podocytes

Serum amyloid A and inflammation in diabetic kidney disease and podocytes Laboratory Investigation 95, 697 (June 2015). doi:10.1038/labinvest.2015.38 Authors: Robert J Anderberg, Rick L Meek, Kelly L Hudkins, Sheryl K Cooney, Charles E Alpers, Renee C Leboeuf & Katheri ... mehr

Inside the USCAP Journals

Inside the USCAP Journals Laboratory Investigation 95, 454 (May 2015). doi:10.1038/labinvest.2015.56 mehr

Alle Fachpublikationen zu Labortechnik

Improved informed consent documents for biomedical research do not increase patients' understanding but reduce enrolment: a study in real settings

Aims To evaluate the participant's comprehension of an improved informed consent document (ICD). Method Randomised controlled French multicentre study performed in real conditions. Participants were adult patients undergoing screening for enrolment in biomedical research studies, w ... mehr

Pharmacogenetic testing prior to carbamazepine treatment of epilepsy: patients' and physicians' preferences for testing and service delivery

Aim Pharmacogenetic studies have identified the presence of the HLA‐A*31:01 allele as a predictor of cutaneous adverse drugs reactions (ADRs) to carbamazepine. This study aimed to ascertain the preferences of patients and clinicians to inform carbamazepine pharmacogenetic testing services ... mehr

High metabolic N‐oxidation of voriconazole in a patient with refractory aspergillosis and CYP2C19*17/*17 genotype

Summary Voriconazole (VRC) is mainly metabolized by CYP2C19 and CYP3A4 and exhibits a wide inter‐ and intra‐individual variability requiring therapeutic drug monitoring (TDM). We present a case of VRC therapy failure in a patient carrying a CYP2C19*17/*17 genotype. A 26‐year‐old Caucasia ... mehr

Potentiation of Glibenclamide Hypoglycaemia in Mice by MK‐467, a Peripherally Acting Alpha2‐Adrenoceptor Antagonist

Abstract Pharmacological antagonism and genetic depletion of pancreatic α2A‐adrenoceptors increase insulin secretion in mice, and enhance the insulinotropic action of glibenclamide, a representative of the sulphonylurea class of insulin secretagogues used in the therapy of type 2 diabete ... mehr

Circumspectives: The Replacements

Circumspectives: The Replacements Neuropsychopharmacology 40, 1813 (July 2015). doi:10.1038/npp.2015.82 Authors: Markus Heilig & William A Carlezon Keywords: mehr

Alle Fachpublikationen zu Pharma

Heart rate recovery in elite athletes: the impact of age and exercise capacity

Summary There is compelling evidence that postexercise heart rate recovery (HRR) is a valid indicator of sympaticovagal balance. It is also used in prescription and monitoring of athletic training. The purpose of our study was to determine HRR after maximal exercise among elite athletes ... mehr

Toxicological screening of human plasma by on‐line SPE‐HPLC‐DAD: identification and quantification of acidic and neutral drugs

ABSTRACT A multi‐analyte screening method for the quantification of 50 acidic/neutral drugs in human plasma based on on‐line SPE‐HPLC with photodiode array detection (DAD) was developed, validated and applied for clinical investigation. Acetone and methanol for protein precipitation, thr ... mehr

Recombinant HBV vaccine enhances the rate of sustained virological response when early initiated after anti‐HCV combination therapy

Backgrounds: The overall SVR rate for chronic hepatitis C genotype 4 using the Standard of care is 54.3%. HBV infection can be prevented by the administration of effective and safe vaccine. Aims: Evaluation of the vaccination‐induced anti‐HBs response rates in a cohort of HCV Egyptian patie ... mehr

Comparison of genotypic and virtual phenotypic drug resistance interpretations with laboratory‐based phenotypes among CRF01_AE and subtype B HIV‐infected individuals

Abstract Objectives HIV drug resistance assessments and interpretations can be obtained from genotyping (GT), virtual phenotyping (VP) and laboratory‐based phenotyping (PT). We compared resistance calls obtained from GT and VP with those from PT (GT‐PT and VP‐PT) among CRF01_AE and sub ... mehr

Population‐based study for human papillomavirus (HPV) infection in women in Japan: A multicenter study by the Japanese human papillomavirus disease education research survey gr ...

Abstract A multi‐center study was conducted to examine 6,628 eligible Japanese women aged from 16‐50 years for uterine cervical abnormality and HPV infection with a liquid based‐cytology test and a novel HPV test using the PCR‐SSOP‐Luminex® method identifying 31 HPV genotypes. In 3,047 ... mehr

Alle Fachpublikationen zu Medizin
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