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1.873 Aktuelle Fachpublikationen zum Thema Addition

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The lactate receptor, G‐protein‐coupled receptor 81/hydroxycarboxylic acid receptor 1: Expression and action in brain

16.04.2015 | Cecilie Morland, Knut Husø Lauritzen, Maja Puchades, Signe Holm‐Hansen, Krister Andersson, Albert Gjedde, Håvard Att ..., Journal of Neuroscience Research, 2015

We have proposed that lactate is a “volume transmitter” in the brain and underpinned this by showing that the lactate receptor, G‐protein‐coupled receptor 81 (GPR81, also known as HCA1 or HCAR1), which promotes lipid storage in adipocytes, is also active in the mammalian brain. This includes the ...

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In vitro and in vivo Bone‐Forming Activity of Saururus chinensis Extract

14.04.2015 | Seong‐Hee Moon, Sik‐Won Choi, Sang‐Joon Park, Shi‐Yong Ryu, Kyu‐Seok Hwang, Cheol‐Hee Kim, Seong Hwan Kim, Phytotherapy Research, 2015

Bone is maintained by osteoclast‐mediated resorption and osteoblast‐mediated formation. Recently, anti‐osteoporotic activity of Saururus chinensis extract (SCE) and anti‐osteoclastogenic activity of its components have been reported, but the effect of SCE on bone formation has not been studied ...

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Overview of the Impact of Noninvasive Prenatal Testing on Diagnostic Procedures

14.04.2015 | Steven L. Warsof, Sebastian Larion, Alfred Z. Abuhamad, Prenatal Diagnosis, 2015

Abstract Noninvasive prenatal testing (NIPT) has had a profound influence in the field of prenatal diagnosis since the 1997 discovery of cell free fetal DNA in maternal blood. Research has progressed rapidly, with clinical data supporting laboratory studies showing that NIPT is highly ...

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De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review

06.04.2015 | Yi Liu, Dongmei Zhao, Rui Dong, Xiaomeng Yang, Yanqing Zhang, Kristiina Tammimies, Mohammed Uddin, Stephen W Scherer ..., American Journal of Medical Genetics Part A, 2015

Exonic deletions disrupting the autism susceptibility candidate 2 (AUTS2) gene have been demonstrated as causal variants leading to neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) and developmental delay (DD). Here, we report on 830 kb de novo deletion at chromosome ...

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Overlap of juvenile polyposis syndrome and cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: Implications for treatment and surveillance

05.04.2015 | Adebisi Alimi, Lauren A. Weeth‐Feinstein, Amy Stettner, Freddy Caldera, Jennifer M. Weiss, American Journal of Medical Genetics Part A, 2015

We describe a patient with a severe juvenile polyposis phenotype, due to a de novo deletion of chromosome 10q22.3‐q24.1. He was initially diagnosed with Juvenile polyposis syndrome (JPS) at age four after presenting with hematochezia due to multiple colonic juvenile polyps. He then re‐presented ...

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Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case‐control study

05.04.2015 | Despoina Manousaki, Judith Allanson, Lior Wolf, Cheri Deal, American Journal of Medical Genetics Part A, 2015

Congenital Hypopituitarism (CH) has traditionally been associated with specific facial phenotypes subsumed under the term midface retrusion, based on cephalometric studies. In this study, we used a systematic anthropometric approach to facial morphology in 37 individuals with CH and their ...

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Obstructive heart defects associated with candidate genes, maternal obesity, and folic acid supplementation

02.04.2015 | Xinyu Tang, Mario A. Cleves, Todd G. Nick, Ming Li, Stewart L. MacLeod, Stephen W. Erickson, Jingyun Li, Gary M. Sha ..., American Journal of Medical Genetics Part A, 2015

Right‐sided and left‐sided obstructive heart defects (OHDs) are subtypes of congenital heart defects, in which the heart valves, arteries, or veins are abnormally narrow or blocked. Previous studies have suggested that the development of OHDs involved a complex interplay between genetic ...

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Repair of spinal cord injury by chitosan scaffold with glioma ECM and SB216763 implantation in adult rats

02.04.2015 | Rao Jian, Yang Yixu, lin sheyu, Shen Jianhong, Yan Yaohua, Su xing, Huang Qingfeng, Lu Xiaojian, Zhang Lei, Zhen yan ..., Journal of Biomedical Materials Research Part A, 2015

Abstract The loss of spinal cord tissue and the cavity formation are major obstacles to the repair of spinal cord injury (SCI). In the study, the scaffold of chitosan+ECM+SB216763 was fabricated and used for the repair of injured spinal cord injury. First, the biocompatibility of the scaffold ...

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Positive effects of the traditional Chinese medicine MLC901 in cognitive tasks

30.03.2015 | T. Lorivel, C. Gandin, J. Veyssière, M. Lazdunski, C. Heurteaux, Journal of Neuroscience Research, 2015

MLC901 (NurAiDII) is used as a treatment for stroke patients. It has been shown that MLC901 improves motor and cognitive recovery in ischemic and traumatic brain‐injured rodents. The present study seeks to delineate cognitive effects induced by MLC901 in normal, noninjured mice. To this end, the ...

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Dismantling papillary renal cell carcinoma classification: The heterogeneity of genetic profiles suggests several independent diseases

28.03.2015 | Alexandre Marsaud, Bérengère Dadone, Damien Ambrosetti, Christian Baudoin, Emmanuel Chamorey, Etienne Rouleau, Cédri ..., Genes, Chromosomes and Cancer, 2015

Papillary renal cell carcinoma (pRCC) is the second most frequent renal cell carcinoma (RCC) after clear cell RCC. In contrast to clear cell RCC, there is no consensual protocol using targeted therapy for metastatic pRCC. Moreover, diagnosis of some pRCC, especially pRCC of type 2 (pRCC2) may be ...

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