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In conclusion, we have uncovered a defect in the negative feedback control of type I IFN signaling by the ISG15-specific isopeptidase UBP43 within BL cells.
Recent studies have uncovered a defect in telomeric repair in RA T cells.
These experiments uncovered a defect in the release of cytochrome c from mitochondria.
In addition, the authors uncovered a defect in the ability of ND2 mutants to pump protons through complex I.
In contrast to the underdeveloped photoreceptors observed following six dsRNA feedings targeting Smed-rbap46/48-2, shortening the treatment to three feedings uncovered a defect in photoreceptor morphology in which the pigment cups appeared abnormally elongated at early stages of regeneration (Fig. 3g).
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Our data uncover a defect in B cell selection in ALPS patients and indicate a role for B cell dysregulation in the pathogenesis of autoimmunity and B-cell lymphoma in ALPS patients.
Analysis of the knockout cell lines unexpectedly failed to uncover a defect in exocytosis, endocytosis or in the morphology or location of multiple markers for the endomembrane system, suggesting that neither RabX1 nor RabX2 has a major role in intracellular transport.
We have uncovered a lactation defect in one of the MMTV-Cre founder lines during our study of the effect of the SH2-domain containing protein tyrosine phosphatase1 (Shp1) upon mammary gland development.
Pold1−/− blastocysts cultured for 3 days, roughly corresponding to E6.5, uncovered a serious proliferation defect.
Interestingly, the use of this system also uncovered a more pronounced defect in Dazl heterozygous ESCs than seen in Dazl heterozygous PGCs in vivo, where Dazl heterozygous embryos had a non-significant reduction in germ cell number and little to no change in gene expression or H19 imprinted status relative to wildtype.
As the H3-L61W mutalsoalso causes cryptic intragenic transcription initiation at the FLO8 gene, we have tested the H3-L61X mutants for this defect and have uncovered a correlation between H3-L61X-mediated defects in repression of intragenic transcription initiation and in impairment of Spt16−gene interactions.
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