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Aktuelle Fachpublikationen

Lack of CUL4B leads to increased abundance of GFAP-positive cells that is mediated by PTGDS in mouse brain

Astrocytes are the most abundant cell type in the mammalian brain and are important for the functions of the central nervous system. Glial fibrillary acidic protein (GFAP) is regarded as a hallmark of mature astrocytes, though some GFPA-positive cells may act as neural stem cells. Missense ... mehr

Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci

Genetics of gene expression (eQTLs or expression QTLs) has proved an indispensable tool for understanding biological pathways and pathomechanisms of trait-associated SNPs. However, power of most genome-wide eQTL studies is still limited. We performed a large eQTL study in peripheral blood m ... mehr

Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle

Plectin, a versatile 500-kDa cytolinker protein, is essential for muscle fiber integrity and function. The most common disease caused by mutations in the human plectin gene, epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), is characterized by severe skin blistering and progre ... mehr

CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model

A single amino acid mutation near the active site of the CAPN5 protease was linked to the inherited blinding disorder, autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV, OMIM #193235). In homology modeling with other calpains, this R243L CAPN5 mutation was situated in a m ... mehr

Striatal neuronal death mediated by astrocytes from the Gcdh−/− mouse model of glutaric acidemia type I

Glutaric acidemia type I (GA-I) is an inherited neurometabolic childhood disorder caused by defective activity of glutaryl CoA dehydrogenase (GCDH) which disturb lysine (Lys) and tryptophan catabolism leading to neurotoxic accumulation of glutaric acid (GA) and related metabolites. However, ... mehr

Alle Fachpublikationen

Lack of CUL4B leads to increased abundance of GFAP-positive cells that is mediated by PTGDS in mouse brain

Astrocytes are the most abundant cell type in the mammalian brain and are important for the functions of the central nervous system. Glial fibrillary acidic protein (GFAP) is regarded as a hallmark of mature astrocytes, though some GFPA-positive cells may act as neural stem cells. Missense ... mehr

Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci

Genetics of gene expression (eQTLs or expression QTLs) has proved an indispensable tool for understanding biological pathways and pathomechanisms of trait-associated SNPs. However, power of most genome-wide eQTL studies is still limited. We performed a large eQTL study in peripheral blood m ... mehr

Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle

Plectin, a versatile 500-kDa cytolinker protein, is essential for muscle fiber integrity and function. The most common disease caused by mutations in the human plectin gene, epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), is characterized by severe skin blistering and progre ... mehr

CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model

A single amino acid mutation near the active site of the CAPN5 protease was linked to the inherited blinding disorder, autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV, OMIM #193235). In homology modeling with other calpains, this R243L CAPN5 mutation was situated in a m ... mehr

Striatal neuronal death mediated by astrocytes from the Gcdh−/− mouse model of glutaric acidemia type I

Glutaric acidemia type I (GA-I) is an inherited neurometabolic childhood disorder caused by defective activity of glutaryl CoA dehydrogenase (GCDH) which disturb lysine (Lys) and tryptophan catabolism leading to neurotoxic accumulation of glutaric acid (GA) and related metabolites. However, ... mehr

Alle Fachpublikationen zu Biotechnologie

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow‐up amniocentesis

Abstract Objectives Chromosomal mosaicism in chorionic villi (CV) is detected in ~1–2% of cases. When a mosaic in CV is detected during prenatal diagnosis, a confirmatory karyotype should be performed on amniocytes to discriminate between a mosaic confined to the placenta (CPM) or one ... mehr

Reflex antenatal DNA screening for Down's syndrome

What's already known about this topic? Modelling has shown the efficacy of reflex DNA screening for Down syndrome The DNA test can be triggered (ie. reflexed) by a risk estimate from a conventional test such as the Combined test using a plasma sample collected at the same time as the ... mehr

Prenatal diagnosis of inguinoscrotal hernia associated with bowel dilatation: a pathogenetic hypothesis

What's already known about this topic? Rarely, prenatal fetal inguinoscrotal hernia may be diagnosed during intra‐uterine life. To date, few cases have been published in the literature.The pathogenetic mechanism underlying fetal inguinal hernia remains unclear. What does this stud ... mehr

Feasibility and reproducibility of ShearWaveTM elastography of fetal baboon organs

Abstract Objectives To assess the feasibility and reproducibility of transabdominal ShearWaveTM elastography of fetal organs in pregnant baboons. Materials and methods Fetal ultrasounds of all pregnant baboons in a single primate research center were performed prospectively duri ... mehr

Placental elastography in a murine intrauterine growth restriction model

Abstract Objective To compare placental elasticity in normal versus intrauterine growth restriction (IUGR) murine pregnancies using Shear Wave Elastography (SWE) Methods IUGR was created by ligation of the left uterine artery of Sprague Dawleys rats on E17. Ultrasonography (US) ... 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

Clinical significance of the integrin |[alpha]|6|[beta]|4 in human malignancies

Clinical significance of the integrin α6β4 in human malignancies Laboratory Investigation advance online publication, June 29 2015. doi:10.1038/labinvest.2015.82 Authors: Rachel L Stewart & Kathleen L O'Connor mehr

Overexpression of SULT2B1b is an independent prognostic indicator and promotes cell growth and invasion in colorectal carcinoma

Overexpression of SULT2B1b is an independent prognostic indicator and promotes cell growth and invasion in colorectal carcinoma Laboratory Investigation advance online publication, June 29 2015. doi:10.1038/labinvest.2015.84 Authors: Liang Hu, Guang-Zhen Yang, Yu Zhang, Dan Fe ... 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

Alle Fachpublikationen zu Labortechnik

Effects of Oxytocin on Neural Response to Facial Expressions in Patients with Schizophrenia

Effects of Oxytocin on Neural Response to Facial Expressions in Patients with Schizophrenia Neuropsychopharmacology 40, 2286 (August 2015). doi:10.1038/npp.2015.78 Authors: Na Young Shin, Hye Yoon Park, Wi Hoon Jung, Jin Woo Park, Je-Yeon Yun, Joon Hwan Jang, Sung Nyun ... mehr

Kappa Antagonist JDTic in Phase 1 Clinical Trial

Kappa Antagonist JDTic in Phase 1 Clinical Trial Neuropsychopharmacology 40, 2057 (August 2015). doi:10.1038/npp.2015.74 Authors: Charles Chavkin & Diana Martinez Keywords: mehr

Recent Advance in Drug Development of Squamous Cell Carcinoma

Abstract: Squamous cell carcinoma (SCC) has a high worldwide incidence that is commonly seen as head and neck cancers, esophageal cancers, and non-small cell lung cancers. There is a poor prognosis for SCC due to potential recurrence and its metastatic tendency so the 5-year survival rate ... mehr

Is Notch Signaling a Specific Target in Hepatocellular Carcinoma?

Abstract: Hepatocellular carcinoma (HCC) is one of the most malignant cancers, with the second highest cancer death rate world-wide, next to lung cancer. The signaling mechanisms in HCC are currently not clear. Notch signaling, which is highly conserved and plays a critical role in many ca ... mehr

Molecular Targets of Omega-3 Fatty Acids for Cancer Therapy

Abstract: Nowadays, dietary guidelines acknowledge the therapeutic role of omega-3 polyunsaturated fatty acids, as the most important class of fatty acids, against different human diseases. During the last two decades, the average level of consumption of omega-3 polyunsaturated fatty acids ... mehr

Alle Fachpublikationen zu Pharma

Clinical Snippets

Clinical Snippets Journal of Investigative Dermatology 135, 1934 (August 2015). doi:10.1038/jid.2015.210 mehr

August 2015 Snapshot Dx Quiz: Linking Science to Patient Care

August 2015 Snapshot Dx Quiz: Linking Science to Patient Care Journal of Investigative Dermatology 135, e31 (August 2015). doi:10.1038/jid.2015.214 Authors: Erin Wei & Mariya Miteva mehr

Databases for Clinical Research

Databases for Clinical Research Journal of Investigative Dermatology 135, e35 (August 2015). doi:10.1038/jid.2015.213 Authors: Katrina Abuabara & David J Margolis mehr

Cells to Surgery Quiz: August 2015

Cells to Surgery Quiz: August 2015 Journal of Investigative Dermatology 135, e16 (August 2015). doi:10.1038/jid.2015.215 Authors: Mohammad-Ali Yazdani Abyaneh, Brian J Simmons, Fleta N Bray, Mohammed Alsaidan & Keyvan Nouri mehr

Late Breaking Abstracts of the Society for Investigative Dermatology 2015 Annual Meeting

Late Breaking Abstracts of the Society for Investigative Dermatology 2015 Annual Meeting Journal of Investigative Dermatology 135, S1 (August 2015). doi:10.1038/jid.2015.189 mehr

Alle Fachpublikationen zu Medizin
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