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843 Newest Publications in proceedings of the national academy of sciences current issue
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matching the following criteria
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome [Genetics]
04-06-2013 | Mark Drost; Anne Lützen; Sandrine van Hees; Daniel Ferreira; Fabienne Calléja; José B. M. Zonneveld; Finn Cilius Nie ..., Proceedings of the National Academy of Sciences current issue, 2013
In many individuals suspected of the common cancer predisposition Lynch syndrome, variants of unclear significance (VUS), rather than an obviously pathogenic mutations, are identified in one of the DNA mismatch repair (MMR) genes. The uncertainty of whether such VUS inactivate MMR, and ...
The lipopolysaccharide modification regulator PmrA limits Salmonella virulence by repressing the type three-secretion system Spi/Ssa [Microbiology]
04-06-2013 | Jeongjoon Choi; Eduardo A. Groisman, Proceedings of the National Academy of Sciences current issue, 2013
The regulatory protein PmrA controls expression of lipopolysaccharide (LPS) modification genes in Salmonella enterica serovar Typhimurium, the etiologic agent of human gastroenteritis and murine typhoid fever. PmrA-dependent LPS modifications confer resistance to serum, Fe3+, and several ...
Analysis of core circadian feedback loop in suprachiasmatic nucleus of mCry1-luc transgenic reporter mouse [Neuroscience]
04-06-2013 | Elizabeth S. Maywood; Lesley Drynan; Johanna E. Chesham; Mathew D. Edwards; Hugues Dardente; Jean-Michel Fustin; Dav ..., Proceedings of the National Academy of Sciences current issue, 2013
The suprachiasmatic nucleus (SCN) coordinates circadian rhythms that adapt the individual to solar time. SCN pacemaking revolves around feedback loops in which expression of Period (Per) and Cryptochrome (Cry) genes is periodically suppressed by their protein products. Specifically, PER/CRY ...
Profile of Susan S. Golden [Profiles]
28-05-2013 | Sujata Gupta, Proceedings of the National Academy of Sciences current issue, 2013
Susan Golden did not set out to become an expert in biological clocks, the internal timepieces that keep life on Earth adjusted to a 24-hour cycle. Instead, Golden, elected in 2010 to the National Academy of Sciences, wanted to identify the genes that underpin photosynthesis. However, her ...
Mutant presenilin 1 expression in excitatory neurons impairs enrichment-mediated phenotypes of adult hippocampal progenitor cells [Neuroscience]
28-05-2013 | Karthikeyan Veeraraghavalu; Sangram S. Sisodia, Proceedings of the National Academy of Sciences current issue, 2013
Inheritance of mutant presenilin 1 genes (PSEN1) encoding presenilin 1 (PS1)variants causes autosomal dominant forms of familial Alzheimer’s disease (FAD). We previously reported that ubiquitous expression of FAD-linked PS1 variants in mice impairs environmental enrichment (EE)-induced ...
Heterochromatin protein Sir3 induces contacts between the amino terminus of histone H4 and nucleosomal DNA [Biochemistry]
21-05-2013 | Feng Wang; Geng Li; Mohammed Altaf; Chenning Lu; Mark A. Currie; Aaron Johnson; Danesh Moazed, Proceedings of the National Academy of Sciences current issue, 2013
The regulated binding of effector proteins to the nucleosome plays a central role in the activation and silencing of eukaryotic genes. How this binding changes the properties of chromatin to mediate gene activation or silencing is not fully understood. Here we provide evidence that ...
Expression of recombinant human complement C1q allows identification of the C1r/C1s-binding sites [Immunology]
21-05-2013 | Isabelle Bally; Sarah Ancelet; Christine Moriscot; Florence Gonnet; Alberto Mantovani; Régis Daniel; Guy Schoehn; Gé ..., Proceedings of the National Academy of Sciences current issue, 2013
Complement C1q is a hexameric molecule assembled from 18 polypeptide chains of three different types encoded by three genes. This versatile recognition protein senses a wide variety of immune and nonimmune ligands, including pathogens and altered self components, and triggers the classical ...
Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia [Developmental Biology]
21-05-2013 | Garry L. Coles; Kate G. Ackerman, Proceedings of the National Academy of Sciences current issue, 2013
Congenital diaphragmatic hernia (CDH) is a common birth defect that results in a high degree of neonatal morbidity and mortality, but its pathological mechanisms are largely unknown. Therefore, we performed a forward genetic screen in mice to identify unique genes, models, and mechanisms of ...
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease [Genetics]
14-05-2013 | Yohei Kirino; Qing Zhou; Yoshiaki Ishigatsubo; Nobuhisa Mizuki; Ilknur Tugal-Tutkun; Emire Seyahi; Yilmaz Özyazgan; ..., Proceedings of the National Academy of Sciences current issue, 2013
Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants. In the current study of Behçet disease (BD), nonsynonymous ...
Mechanism of somatic hypermutation at the WA motif by human DNA polymerase {eta} [Immunology]
14-05-2013 | Ye Zhao; Mark T. Gregory; Christian Biertümpfel; Yue-Jin Hua; Fumio Hanaoka; Wei Yang, Proceedings of the National Academy of Sciences current issue, 2013
Somatic hypermutation is programmed base substitutions in the variable regions of Ig genes for high-affinity antibody generation. Two motifs, RGYW and WA (R, purine; Y, pyrimidine; W, A or T), have been found to be somatic hypermutation hotspots. Overwhelming evidence suggests that DNA ...
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