Predicting disease-causing variant combinations.

abstract：:Tau is a highly soluble protein, yet it aggregates abnormally in Alzheimer's disease. Here, we address the question of proteolytic processing of tau and the nucleation of aggregates by tau fragments. We show in neuronal cell models that fragments of the repeat domain of tau containing mutations of FTDP17 (frontotempor...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Wang YP,Biernat J,Pickhardt M,Mandelkow E,Mandelkow EM

更新日期：2007-06-12 00:00:00

abstract：:Mutations induced by (+/-)trans-benzo-[a]pyrene-7,8-dihydrodiol-9,10-epoxide (BaP-diol epoxide-1) were selected by using a recombinant plasmid vector system designed for the study of transcription termination signals. The plasmid contains a transcription terminator positioned between a promotor signal and the Escheric...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Mizusawa H,Lee CH,Kakefuda T,McKenney K,Shimatake H,Rosenberg M

更新日期：1981-11-01 00:00:00

abstract：:In skeletal muscle, transcription of the gene encoding the mouse type Ialpha (RIalpha) subunit of the cAMP-dependent protein kinase is initiated from the alternative noncoding first exons 1a and 1b. Here, we report that activity of the promoter upstream of exon 1a (Pa) depends on two adjacent E boxes (E1 and E2) in NI...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Barradeau S,Imaizumi-Scherrer T,Weiss MC,Faust DM

更新日期：2001-04-24 00:00:00

abstract：:Legionella pneumophila causes a potentially fatal form of pneumonia by replicating within macrophages in the Legionella-containing vacuole (LCV). Bacterial survival and proliferation within the LCV rely on hundreds of secreted effector proteins comprising high functional redundancy. The vacuolar membrane-localized Mav...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Christenson ET,Isaac DT,Yoshida K,Lipo E,Kim JS,Ghirlando R,Isberg RR,Banerjee A

更新日期：2019-09-03 00:00:00

abstract：:In this era of unprecedented biodiversity loss and increased zoonotic disease emergence, it is imperative to understand the effects of biodiversity on zoonotic pathogen dynamics in wildlife. Whether increasing biodiversity should lead to a decrease or increase in infection prevalence, termed the dilution and amplifica...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Luis AD,Kuenzi AJ,Mills JN

更新日期：2018-07-31 00:00:00

abstract：:We have studied the genetic interactions between mutant alleles in 12 genes, designated PER1-PER12, which are essential for peroxisome biogenesis in the yeast Hansenula polymorpha. Recessive mutations in any of these genes determined three different morphological phenotypes: (i) complete absence of peroxisomes (Per-);...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Titorenko VI,Waterham HR,Cregg JM,Harder W,Veenhuis M

更新日期：1993-08-15 00:00:00

abstract：:Efforts are underway to construct several recoded genomes anticipated to exhibit multivirus resistance, enhanced nonstandard amino acid (nsAA) incorporation, and capability for synthetic biocontainment. Although our laboratory pioneered the first genomically recoded organism (Escherichia coli strain C321.∆A), its fitn...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Wannier TM,Kunjapur AM,Rice DP,McDonald MJ,Desai MM,Church GM

更新日期：2018-03-20 00:00:00

abstract：:Ecosystem restoration aims to restore biodiversity and valuable functions that have been degraded or lost. The Coral Triangle is a hotspot for marine biodiversity held in its coral reefs, seagrass meadows, and mangrove forests, all of which are in global decline. These coastal ecosystems support valuable fisheries and...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Williams SL,Ambo-Rappe R,Sur C,Abbott JM,Limbong SR

更新日期：2017-11-07 00:00:00

abstract：:The rotational strengths of the four longer wavelength transitions, B(2u), B(1u), and the two E(1u), of adenosine derivatives constrained in the syn form have been investigated theoretically and experimentally. The theory combines a complete neglect of differential overlap version S (CNDO/S) description of the base wi...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Miles DW,Farmer M,Eyring H

更新日期：1980-06-01 00:00:00

abstract：:A cell line has been developed from the imaginal wing discs of the lepidopteran insect Trichoplusia ni (Hübner). The cells grow in suspension as fluid-filled, multicellular vesicles. The cell line has been designated IAL-TND1. Two-dimensional electrophoresis (isoelectric focusing and sodium dodecyl sulfate/polyacrylam...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Lynn DE,Miller SG,Oberlander H

更新日期：1982-04-01 00:00:00

abstract：:Diminished Sonic Hedgehog (Shh) signaling is associated with the most common forebrain defect in humans, holoprosencephaly (HPE), which includes cyclopia, a phenotype also seen in mice and other vertebrates with defective Shh signaling. The secreted protein Shh acts as a crucial factor that patterns the ventral forebr...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Roessler E,Du YZ,Mullor JL,Casas E,Allen WP,Gillessen-Kaesbach G,Roeder ER,Ming JE,Ruiz i Altaba A,Muenke M

更新日期：2003-11-11 00:00:00

abstract：:Dopaminergic and glutamatergic neurotransmissions in the striatum play an essential role in motor- and reward-related behaviors. Dysfunction of these neurotransmitter systems has been found in Parkinson's disease, schizophrenia, and drug addiction. Cyclin-dependent kinase 5 (CDK5) negatively regulates postsynaptic sig...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Chergui K,Svenningsson P,Greengard P

更新日期：2004-02-17 00:00:00

abstract：:Amphibian eggs and embryos as well as mammalian cells have been reported to contain an activity that unwinds double-stranded RNA. We have now found that adenosine residues have been modified in the RNA products of this unwinding activity. Although the modified RNA remains double-stranded, the modification causes the R...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Wagner RW,Smith JE,Cooperman BS,Nishikura K

更新日期：1989-04-01 00:00:00

abstract：:An endogenous circadian biological clock controls the temporal aspects of life in most organisms, including rhythmic control of genes involved in clock output pathways. In the fungus Neurospora crassa, one pathway known to be under control of the clock is asexual spore (conidia) development. To understand more fully t...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Bell-Pedersen D,Shinohara ML,Loros JJ,Dunlap JC

更新日期：1996-11-12 00:00:00

abstract：:Although the F-specific ssRNA phage MS2 has long had paradigm status, little is known about penetration of the genomic RNA (gRNA) into the cell. The phage initially binds to the F-pilus using its maturation protein (Mat), and then the Mat-bound gRNA is released from the viral capsid and somehow crosses the bacterial e...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Harb L,Chamakura K,Khara P,Christie PJ,Young R,Zeng L

更新日期：2020-10-13 00:00:00

abstract：:A murine hybridoma-derived antibody (IPH.134) has been produced which has apparent high binding specificity for an extract of Schistosoma japonicum adult worms. No binding was detected to extracts of S. japonicum eggs or to extracts from other adult trematodes (Fasciola hepatica, Paragonimus westermanii, Clonorchis si...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Mitchell GF,Cruise KM,Garcia EG,Anders RF

更新日期：1981-05-01 00:00:00

abstract：:The cationic conductances of purified bovine retinal rod membranes were studied by incorporation of vesicles into planar lipid bilayers. When the membranes were stripped of all peripheral proteins [guanine nucleotide-binding protein (G protein) and cGMP phosphodiesterase (3',5'-cyclic-GMP 5'-nucleotidohydrolase), EC 3...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Bennett N,Ildefonse M,Crouzy S,Chapron Y,Clerc A

更新日期：1989-05-01 00:00:00

abstract：:We report here that during a permanent cardiac arrest, rodent brain tissue is "physiologically" preserved in situ in a particular quiescent state. This state is characterized by the absence of electrical activity and by a critical period of 5-6 hr during which brain tissue can be reactivated upon restoration of a simp...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Charpak S,Audinat E

更新日期：1998-04-14 00:00:00

abstract：:We report the isolation and functional characterization of cDNAs encoding a Drosophila kainate-selective glutamate receptor. The deduced mature 964-residue protein (DGluR-I) is 108,482 Da and exhibits significant homology to mammalian glutamate receptor subunits. Injection of DGluR-I cRNA into Xenopus oocytes generate...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Ultsch A,Schuster CM,Laube B,Schloss P,Schmitt B,Betz H

更新日期：1992-11-01 00:00:00

abstract：:Two-phase random textures abound in a host of contexts, including porous and composite media, ecological structures, biological media, and astrophysical structures. Questions surrounding the spatial structure of such textures continue to pose many theoretical challenges. For example, can two-point correlation function...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Jiao Y,Stillinger FH,Torquato S

更新日期：2009-10-20 00:00:00

abstract：:RNase T2 enzymes are conserved in most eukaryotic genomes, and expression patterns and phylogenetic analyses suggest that they may carry out an important housekeeping role. However, the nature of this role has been elusive. Here we show that RNS2, an intracellular RNase T2 from Arabidopsis thaliana, is essential for n...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Hillwig MS,Contento AL,Meyer A,Ebany D,Bassham DC,Macintosh GC

更新日期：2011-01-18 00:00:00

abstract：:The CH family of murine B-cell lymphomas includes several members that are sensitive to growth inhibition when their membrane IgM (mIgM) receptors are cross-linked by anti-mu chain, anti-kappa chain, or anti-idiotypic antibodies. These lymphomas are IgM+, Ia+, and IgD +/- and resemble neonatal B cells in terms of thei...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Alés-Martínez JE,Warner GL,Scott DW

更新日期：1988-09-01 00:00:00

abstract：:In epithelial cells, sorting of membrane proteins to the basolateral surface depends on the presence of a basolateral sorting signal (BaSS) in their cytoplasmic domain. Amyloid precursor protein (APP), a basolateral protein implicated in the pathogenesis of Alzheimer's disease, contains a tyrosine-based BaSS, and muta...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Zheng P,Eastman J,Vande Pol S,Pimplikar SW

更新日期：1998-12-08 00:00:00

abstract：:The amphiphilic fluorescent styryl pyridinium dyes FM1-43 and FM4-64 are used to probe activity-dependent synaptic vesicle cycling in neurons. Cultured astrocytes can internalize FM1-43 and FM4-64 inside vesicles but their uptake is insensitive to the elevation of cytosolic calcium (Ca(2+)) concentration and the under...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Li D,Hérault K,Oheim M,Ropert N

更新日期：2009-12-22 00:00:00

abstract：:Type VI secretion systems (T6SSs) are multiprotein complexes best studied in Gram-negative pathogens where they have been shown to inhibit or kill prokaryotic or eukaryotic cells and are often important for virulence. We recently showed that T6SS loci are also widespread in symbiotic human gut bacteria of the order Ba...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Chatzidaki-Livanis M,Geva-Zatorsky N,Comstock LE

更新日期：2016-03-29 00:00:00

abstract：:AIDS remains incurable due to the permanent integration of HIV-1 into the host genome, imparting risk of viral reactivation even after antiretroviral therapy. New strategies are needed to ablate the viral genome from latently infected cells, because current methods are too inefficient and prone to adverse off-target e...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Hu W,Kaminski R,Yang F,Zhang Y,Cosentino L,Li F,Luo B,Alvarez-Carbonell D,Garcia-Mesa Y,Karn J,Mo X,Khalili K

更新日期：2014-08-05 00:00:00

abstract：:Spreading depression (SD), a slow diffusion-mediated self-sustained wave of depolarization that severely disrupts neuronal function, has been implicated as a cause of cellular injury in a number of central nervous system pathologies, including blind spots in the retina. Here we show that in the hypoglycemic chicken re...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Yu Y,Santos LM,Mattiace LA,Costa ML,Ferreira LC,Benabou K,Kim AH,Abrahams J,Bennett MV,Rozental R

更新日期：2012-02-14 00:00:00

abstract：:Small RNAs (sRNAs) are important components of posttranscriptional regulation. These molecules are prevalent in bacterial and eukaryotic organisms, and involved in a variety of responses to environmental stresses. The functional characterization of sRNAs is challenging and requires highly focused and extensive experim...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Modi SR,Camacho DM,Kohanski MA,Walker GC,Collins JJ

更新日期：2011-09-13 00:00:00

abstract：:Changes in cyclic nucleotide metabolism similar to those characteristic of the chronic forms of hypertension were observed in an acute neurogenic form of hypertension in rats produced by electrolytic lesions of the nucleus tractus solitarii. These changes that were evident 2 hr after the lesions were made included dec...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Amer MS,Doba N,Reis DJ

更新日期：1975-06-01 00:00:00

abstract：:Stem cells divide and differentiate to form all of the specialized cell types in a multicellular organism. In the Arabidopsis root, stem cells are maintained in an undifferentiated state by a less mitotically active population of cells called the quiescent center (QC). Determining how the QC regulates the surrounding ...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Clark NM,Fisher AP,Berckmans B,Van den Broeck L,Nelson EC,Nguyen TT,Bustillo-Avendaño E,Zebell SG,Moreno-Risueno MA,Simon R,Gallagher KL,Sozzani R

更新日期：2020-06-30 00:00:00