Results 51 to 60 of about 252,850 (254)

Mutations in topoisomerase IIβ result in a B cell immunodeficiency. [PDF]

, 2019
B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in ...
Austin, Caroline A, Booshehri, Laela M, Broderick, Lori, Brydges, Susannah D, Cowell, Ian G, Croker, Ben A, Frazer, Kelly A, Gebauer, Corinna, Guaderrama, Marisela, Hakonarson, Hakon, Harr, Margaret, Hoffman, Hal M, Hügle, Boris, Kucharova, Karolina, Li, Dong, McGeough, Matthew D, Patel, Niraj C, Putnam, Christopher D, Wang, Jian, Xu, Xun, Yost, Shawn, Zackai, Elaine, Zhang, Jianguo   +22 more
core  

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source

Premature ageing of lung alveoli and bone marrow cells from Terc deficient mice with different telomere lengths

Scientific Reports
Telomeres are terminal protective chromosome structures. Genetic variants in genes coding for proteins required for telomere maintenance cause rare, life-threatening Telomere Biology Disorders (TBDs) such as dyskeratosis congenita, aplastic anemia or ...
Rosa Guerrero-López, Cristina Manguán-García, Carlos Carrascoso-Rubio, M. Luz Lozano, Marta Toldos-Torres, Laura García-Castro, Rebeca Sánchez-Dominguez, Omaira Alberquilla, Isabel Sánchez-Pérez, Maria Molina-Molina, Juan A. Bueren, Guillermo Guenechea, Rosario Perona, Leandro Sastre   +13 more
doaj   +1 more source

In Vitro and in Vivo Evaluation of Mutations in the NS Region of Lineage 2 West Nile Virus Associated with Neuroinvasiveness in a Mammalian Model

Viruses, 2016
West Nile virus (WNV) strains may differ significantly in neuroinvasiveness in vertebrate hosts. In contrast to genetic lineage 1 WNVs, molecular determinants of pathogenic lineage 2 strains have not been experimentally confirmed so far.
Katalin Szentpáli-Gavallér, Stephanie M. Lim, László Dencső, Krisztián Bányai, Penelope Koraka, Albert D.M.E. Osterhaus, Byron E.E. Martina, Tamás Bakonyi, Ádám Bálint   +8 more
doaj   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Peptidase PepP is a novel virulence factor of Campylobacter jejuni contributing to murine campylobacteriosis

Gut Microbes, 2020
Mechanisms of host–pathogen interactions resulting in immunopathological responses upon human Campylobacter jejuni infection are not completely understood, but the recent availability of murine infection models mimicking key features of ...
Markus M. Heimesaat, Anna-Maria Schmidt, Soraya Mousavi, Ulrike Escher, Nicole Tegtmeyer, Silja Wessler, Gabriele Gadermaier, Peter Briza, Dirk Hofreuter, Stefan Bereswill, Steffen Backert   +10 more
doaj   +1 more source

Plastin 1 widens stereocilia by transforming actin filament packing from hexagonal to liquid [PDF]

, 2016
With their essential role in inner-ear function, stereocilia of sensory hair cells demonstrate the importance of cellular actin protrusions. Actin packing in stereocilia is mediated by crosslinkers of the plastin, fascin, and espin families.
Avenarius, Burkard, Chhabra, Claessens, Cox, Cox, Crawley, DeRosier, DeRosier, DeRosier, DeRosier, Drummond, Dumont, Ebrahim, Egelman, Eng, Erde, Francis, Gallien, Gardel, Gillespie, Grimm-Günter, Grüneberg, Gupton, Gustafsson, Hudspeth, Hwang, Jansen, Jones, Jones, Jones, Krey, Krey, Li, Merritt, Michelot, Mogensen, Perrin, Perrin, Purdy, Revenu, Rzadzinska, Salles, Sekerková, Shepherd, Shevchenko, Shin, Shin, Shin, Taylor, Tilney, Tilney, Tilney, Tilney, Tilney, Vignjevic, Volkmann, Waingeh, Wilmarth, Zheng   +59 more
core   +2 more sources

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Streptomycin-induced inflammation enhances Escherichia coli gut colonization through nitrate respiration. [PDF]

, 2013
UnlabelledTreatment with streptomycin enhances the growth of human commensal Escherichia coli isolates in the mouse intestine, suggesting that the resident microbial community (microbiota) can inhibit the growth of invading microbes, a phenomenon known ...
Bäumler, Andreas J, Kingsbury, Dawn D, Lopez, Christopher A, Spees, Alanna M, Tsolis, Renée M, Wangdi, Tamding, Winter, Sebastian E, Xavier, Mariana N   +7 more
core   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source