ABSent: Cross-Lingual Sentence Representation Mapping with Bidirectional GANs

A number of cross-lingual transfer learning approaches based on neural networks have been proposed for the case when large amounts of parallel text are at our disposal. However, in many real-world settings, the size of parallel annotated training data is restricted. Additionally, prior cross-lingual mapping research has mainly focused on the word level. This raises the question of whether such techniques can also be applied to effortlessly obtain cross-lingually aligned sentence representations. To this end, we propose an Adversarial Bi-directional Sentence Embedding Mapping (ABSent) framework, which learns mappings of cross-lingual sentence representations from limited quantities of parallel data

CAFE: Coarse-to-Fine Neural Symbolic Reasoning for Explainable Recommendation

Recent research explores incorporating knowledge graphs (KG) into e-commerce recommender systems, not only to achieve better recommendation performance, but more importantly to generate explanations of why particular decisions are made. This can be achieved by explicit KG reasoning, where a model starts from a user node, sequentially determines the next step, and walks towards an item node of potential interest to the user. However, this is challenging due to the huge search space, unknown destination, and sparse signals over the KG, so informative and effective guidance is needed to achieve a satisfactory recommendation quality. To this end, we propose a CoArse-to-FinE neural symbolic reasoning approach (CAFE). It first generates user profiles as coarse sketches of user behaviors, which subsequently guide a path-finding process to derive reasoning paths for recommendations as fine-grained predictions. User profiles can capture prominent user behaviors from the history, and provide valuable signals about which kinds of path patterns are more likely to lead to potential items of interest for the user. To better exploit the user profiles, an improved path-finding algorithm called Profile-guided Path Reasoning (PPR) is also developed, which leverages an inventory of neural symbolic reasoning modules to effectively and efficiently find a batch of paths over a large-scale KG. We extensively experiment on four real-world benchmarks and observe substantial gains in the recommendation performance compared with state-of-the-art methods.Comment: Accepted in CIKM 202

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1-4. Increasing evidence support the role of pathogenic variants in GRIA1-4 genes as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred for severe ID, myoclonic seizures, cerebellar signs and short stature. Whole exome sequencing identified a novel variant in GRIA3, c.2360A > G, p.(Glu787Gly). The GRIA3 gene maps to chromosome Xq25 and the c.2360A > G variant was transmitted by his healthy mother. Subsequent analysis in the family showed a segregation pattern compatible with the causative role of this variant, further supported by preliminary functional insights. We provide a detailed description of the clinical evolution of the index subjects and stress the relevance of myoclonic seizures and cerebellar syndrome as cardinal features of his presentation

The GATA1s isoform is normally down-regulated during terminal haematopoietic differentiation and over-expression leads to failure to repress MYB, CCND2 and SKI during erythroid differentiation of K562 cells

Background: Although GATA1 is one of the most extensively studied haematopoietic transcription factors little is currently known about the physiological functions of its naturally occurring isoforms GATA1s and GATA1FL in humans—particularly whether the isoforms have distinct roles in different lineages and whether they have non-redundant roles in haematopoietic differentiation. As well as being of general interest to understanding of haematopoiesis, GATA1 isoform biology is important for children with Down syndrome associated acute megakaryoblastic leukaemia (DS-AMKL) where GATA1FL mutations are an essential driver for disease pathogenesis. <p/>Methods: Human primary cells and cell lines were analyzed using GATA1 isoform specific PCR. K562 cells expressing GATA1s or GATA1FL transgenes were used to model the effects of the two isoforms on in vitro haematopoietic differentiation. <p/>Results: We found no evidence for lineage specific use of GATA1 isoforms; however GATA1s transcripts, but not GATA1FL transcripts, are down-regulated during in vitro induction of terminal megakaryocytic and erythroid differentiation in the cell line K562. In addition, transgenic K562-GATA1s and K562-GATA1FL cells have distinct gene expression profiles both in steady state and during terminal erythroid differentiation, with GATA1s expression characterised by lack of repression of MYB, CCND2 and SKI. <p/>Conclusions: These findings support the theory that the GATA1s isoform plays a role in the maintenance of proliferative multipotent megakaryocyte-erythroid precursor cells and must be down-regulated prior to terminal differentiation. In addition our data suggest that SKI may be a potential therapeutic target for the treatment of children with DS-AMKL

Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo

We treated 10 children with X-linked SCID (SCID-X1) using gammaretrovirus-mediated gene transfer. Those with sufficient follow-up were found to have recovered substantial immunity in the absence of any serious adverse events up to 5 years after treatment. To determine the influence of vector integration on lymphoid reconstitution, we compared retroviral integration sites (RISs) from peripheral blood CD3(+) T lymphocytes of 5 patients taken between 9 and 30 months after transplantation with transduced CD34(+) progenitor cells derived from 1 further patient and I healthy donor. Integration occurred preferentially in gene regions on either side of transcription start sites, was clustered, and correlated with the expression level in CD34(+) progenitors during transduction. In contrast to those in CD34(+) cells, RISs recovered from engrafted CD3(+)T cells were significantly overrepresented within or near genes encoding proteins with kinase or transferase activity or involved in phosphorus metabolism. Although gross patterns of gene expression were unchanged in transduced cells, the divergence of RIS target frequency between transduced progenitor cells and post-thymic T lymphocytes indicates that vector integration influences cell survival, engraftment, or proliferation