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19.235 Aktuelle Fachpublikationen zum Thema Addition

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Strategies for fine-mapping complex traits

15.10.2015 | Sarah L. Spain; Jeffrey C. Barrett, Human Molecular Genetics, 2015

Genome-wide association studies (GWAS) have identified thousands of robust and replicable genetic associations for complex disease. However, the identification of the causal variants that underlie these associations has been more difficult. This problem of fine-mapping association signals ...


Activating the translational repressor 4E-BP or reducing S6K-GSK3{beta} activity prevents accelerated axon growth induced by hyperactive mTOR in vivo

15.10.2015 | Xuan Gong; Longbo Zhang; Tianxiang Huang; Tiffany V. Lin; Laura Miyares; John Wen; Lawrence Hsieh; Angélique Bordey, Human Molecular Genetics, 2015

Abnormal axonal connectivity and hyperactive mTOR complex 1 (mTORC1) are shared features of several neurological disorders. Hyperactive mTORC1 alters axon length and polarity of hippocampal neurons in vitro, but the impact of hyperactive mTORC1 on axon growth in vivo and the mechanisms underlying ...


Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations

15.10.2015 | Christina L. Papke; Jun Tsunezumi; Léa-Jeanne Ringuette; Hideaki Nagaoka; Masahiko Terajima; Yoshito Yamashiro; Greg ..., Human Molecular Genetics, 2015

Homozygous recessive mutations in either EFEMP2 (encoding fibulin-4) or FBLN5 (encoding fibulin-5), critical genes for elastogenesis, lead to autosomal recessive cutis laxa types 1B and 1A, respectively. Previously, fibulin-4 was shown to bind lysyl oxidase (LOX), an elastin/collagen ...


High-throughput genetic characterization of a cohort of Brugada syndrome patients

15.10.2015 | Chiara Di Resta; Alessandro Pietrelli; Simone Sala; Paolo Della Bella; Gianluca De Bellis; Maurizio Ferrari; Roberta ..., Human Molecular Genetics, 2015

Brugada syndrome (BrS) is an inherited cardiac arrhythmic disorder that can lead to sudden death, with a prevalence of 1:5000 in Caucasian population and affecting mainly male patients in their third to fourth decade of life. BrS is inherited as an autosomal dominant trait; however, to date ...


The multiple roles of epidermal growth factor repeat O-glycans in animal development

01.10.2015 | Amanda R Haltom; Hamed Jafar-Nejad, Glycobiology , 2015

The epidermal growth factor (EGF)-like repeat is a common, evolutionarily conserved motif found in secreted proteins and the extracellular domain of transmembrane proteins. EGF repeats harbor six cysteine residues which form three disulfide bonds and help generate the three-dimensional structure ...


Protective effects of polysialic acid on proteolytic cleavage of FGF2 and proBDNF/BDNF

01.10.2015 | Masaya Hane; Shuhei Matsuoka; Sayaka Ono; Shinji Miyata; Ken Kitajima; Chihiro Sato, Glycobiology , 2015

Polysialic acid (polySia) is a linear polymer of sialic acid that modifies neural cell adhesion molecule (NCAM) in the vertebrate brain. PolySia is a large and exclusive molecule that functions as a negative regulator of cell–cell interactions. Recently, we demonstrated that polySia can ...


A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis

01.10.2015 | Fuencisla Matesanz; Victor Potenciano; Maria Fedetz; Priscila Ramos-Mozo; María del Mar Abad-Grau; Mohamad Karaky; C ..., Human Molecular Genetics, 2015

Several variants in strong linkage disequilibrium (LD) at the SP140 locus have been associated with multiple sclerosis (MS), Crohn's disease (CD) and chronic lymphocytic leukemia (CLL). To determine the causal polymorphism, we have integrated high-density data sets of expression quantitative ...


Phospholipid transfer protein (PLTP) deficiency accelerates memory dysfunction through altering amyloid precursor protein (APP) processing in a mouse model of Alzheimer's disease

01.10.2015 | Yawei Tong; Yang Sun; Xiaosheng Tian; Ting Zhou; Hecheng Wang; Tao Zhang; Rui Zhan; Lei Zhao; Bolati Kuerban; Zhengq ..., Human Molecular Genetics, 2015

Phospholipid transfer protein (PLTP) is a widely expressed lipid transfer protein participating in the transport of cholesterol and other lipids in the plasma and peripheral tissues. Recently, elevated amyloid β (Aβ) in young and aged PLTP-deficient brains had been reported. However, the role of ...


SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMN{Delta}7 mouse model of SMA

01.10.2015 | Vicki L. McGovern; Chitra C. Iyer; W. David Arnold; Sara E. Gombash; Phillip G. Zaworski; Anton J. Blatnik III; Kevi ..., Human Molecular Genetics, 2015

Proximal spinal muscular atrophy (SMA) is the most frequent cause of hereditary infant mortality. SMA is an autosomal recessive neuromuscular disorder that results from the loss of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. The SMN2 gene produces an insufficient ...


Nucleotide sequence composition adjacent to intronic splice sites improves splicing efficiency via its effect on pre-mRNA local folding in fungi [BIOINFORMATICS]

01.10.2015 | Zohar Zafrir; Tamir Tuller, RNA, 2015

RNA splicing is the central process of intron removal in eukaryotes known to regulate various cellular functions such as growth, development, and response to external signals. The canonical sequences indicating the splicing sites needed for intronic boundary recognition are well known. However, ...


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