1,721,356 research outputs found
The novel function of miR-3195 in targeting mutant PROK2 to prevent Kallmann syndrome
No full textKallmann syndrome (KS) is a rare human genetic disorder characterized by hypogonadotropic hypogonadism with the reduction or absence of olfactory sense. Mutations in multiple genes, including chemokine prokineticin-2 (PROK2), are considered to contribute to the abnormal migration of gonadotropin-releasing hormone (GnRH) neurons in the embryonic stage. However, the mechanisms of the different inheritance modes of KS have not been comprehensively determined. In this article, we present the case of one KS patient with the same mutation in PROK2 (c.223-4C>A) as his mother. RNA-seq analysis of his leukocytes showed a new transcript of PROK2, which contained a partial intron (192 bp) compared to those of his parents. Furthermore, we observed that hsa-miRNA-3195 was expressed at low levels in his and his father’s sera compared to his mother’s. Unexpectedly, hsa-miRNA-3195 was also identified to specifically target the 192 bp intron of the aberrant PROK2 transcript of this patient. We determined that high expression of hsa-miRNA-3195 could efficiently target aberrant PROK2 and stabilize the normal function of PROK2 in vitro, which provided a probable explanation for the different phenotypes of the patient and his mother with the same genotype
Track on Embedded Systems: New Perspectives for Hardware, System Software, and Applications
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Efficient Management for Large-Scale Flash-Memory Storage Systems with Resource Conservation
No full textA Real-Time Garbage Collection Mechanism for Flash-Memory Stroage Systems in Embedded Systems
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Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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