Reduced effects of social feedback on learning in Turner syndrome.

Turner syndrome is a genetic condition caused by a complete or partial loss of one of the X chromosomes. Previous studies indicate that Turner syndrome is associated with challenges in social skills, but the underlying mechanisms remain largely unexplored. A possible mechanism is a reduced social influence on learning.

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.

is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in are associated with anterior segment dysgenesis and Axenfeld-Rieger syndrome (ARS, #602482), an autosomal dominant condition with ophthalmologic anterior segment abnormalities, high risk for glaucoma and extraocular findings including distinctive facial features, as well as dental, skeletal, audiologic, and cardiac anomalies. De Hauwere syndrome is an ultrarare condition previously associated with 6p microdeletions and characterized by anterior segment dysgenesis, joint instability, short stature, hydrocephalus, and skeletal abnormalities.

Cognitive profile in adult women with turner syndrome: IQ split and associations with ADHD and ASD.

Introduction: The behavioural phenotype in Turner syndrome (TS) is associated with an uneven cognitive profile and social and executive difficulties. Still, studies in adult populations of TS are scarce, and the interactions between different behavioural domains are unclear. The aim of this study was to examine the cognitive profile in relation to measures of ADHD and ASD in a Swedish sample of 30 adult women with TS.

Evaluation of Critical Quality Attributes of a Pentavalent (A, C, Y, W, X) Meningococcal Conjugate Vaccine for Global Use.

Towards achieving the goal of eliminating epidemic outbreaks of meningococcal disease in the African meningitis belt, a pentavalent glycoconjugate vaccine (NmCV-5) has been developed to protect against serogroups A, C, Y, W and X. MenA and X polysaccharides are conjugated to tetanus toxoid (TT) while MenC, Y and W polysaccharides are conjugated to recombinant cross reactive material 197 (rCRM), a non-toxic genetic variant of diphtheria toxin. This study describes quality control testing performed by the manufacturer, Serum Institute of India Private Limited (SIIPL), and the independent control laboratory of the U.

Development of a Monocyte Activation Test as an Alternative to the Rabbit Pyrogen Test for Mono- and Multi-Component GMMA-Based Vaccines.

Generalised modules for membrane antigens (GMMA)-based vaccines comprise the outer membrane from genetically modified Gram-negative bacteria containing membrane proteins, phospholipids and lipopolysaccharides. Some lipoproteins and lipopolysaccharides are pyrogens; thus, GMMA-based vaccines are intrinsically pyrogenic. It is important to control the pyrogenic content of biological medicines, including vaccines, to prevent adverse reactions such as febrile responses.

Evaluation of the monocyte activation test for the safety testing of meningococcal B vaccine Bexsero: A collaborative study.

The aim of this collaborative study was to evaluate the robustness of the monocyte activation test (MAT) for quantifying the pyrogenic content in the outer membrane vesicle (OMV)-containing vaccine Bexsero: the first meningococcal B vaccine to be licenced. We analysed datasets from 9 laboratories covering 15 test systems for 3 batches of Bexsero with higher, equivalent and lower activity relative to a reference lot in the MAT. Activity was measured in terms of relative pyrogen units (RPU) based on European Pharmacopoeia (Ph.

Leukoreduction system chambers provide a valuable source of functional monocytes for the monocyte activation test by comparison with internationally validated methods.

Despite being added to the European Pharmacopoeia in 2010 and strongly supported by the European directive enforcing the "3R's" - Replace, Reduce and Refine, uptake of the monocyte activation test (MAT) in preference over the rabbit pyrogen test for the detection of pyrogens has been limited. This has been attributed to the difficulty in sourcing human monocytes due to the necessity of phlebotomy. This study has attempted to address this issue by evaluating cryopreserved peripheral blood mononuclear cells (PBMCs) isolated from leukoreduction system chambers (LRSCs), a readily available by-product of platelet apheresis, as a source of monocytes for the MAT.

A bidirectional fluorescent two-hybrid system for monitoring protein-protein interactions.

Two-hybrid systems have been the cornerstone of research into protein-protein interactions, but these systems typically rely on life/death reporters that put additional selective pressure on the host organism, and potentially lead to false positives. Here we report a bidirectional fluorescence-based bacterial two-hybrid system that enables both the association and dissociation of a given protein-protein interaction to be monitored. The functionality of this system and its compatibility with FACS screening are demonstrated in the forward and reverse direction using known interacting protein-partners and their cyclic peptide inhibitors.

The association of the cytoplasmic domains of interleukin 4 receptor alpha and interleukin 13 receptor alpha 2 regulates interleukin 4 signaling.

Interleukin-4 (IL-4) and Interleukin-13 (IL-13), key cytokines in the pathogenesis of allergic inflammatory disease, mediate their effects via a receptor composed of IL-13Rα1 and IL-4Rα. A third (decoy) receptor called IL-13Rα2 regulates interleukin signaling through this receptor complex. We employed a variety of biophysical and cell-based techniques to decipher the role of this decoy receptor in mediating IL-4 signaling though the IL-4Rα-IL-13Rα1 receptor complex.

A cyclic peptide inhibitor of HIF-1 heterodimerization that inhibits hypoxia signaling in cancer cells.

Hypoxia inducible factor-1 (HIF-1) is a heterodimeric transcription factor that acts as the master regulator of cellular response to reduced oxygen levels, thus playing a key role in the adaptation, survival, and progression of tumors. Here we report cyclo-CLLFVY, identified from a library of 3.2 million cyclic hexapeptides using a genetically encoded high-throughput screening platform, as an inhibitor of the HIF-1α/HIF-1β protein-protein interaction in vitro and in cells.

Targeting tumour angiogenesis with small molecule inhibitors of hypoxia inducible factor.

The adaptation of tumours to hypoxia is critical for their survival and growth. The high proliferation rate of solid tumours causes the continuous outstripping of the oxygen supply provided by the local vasculature, resulting in hypoxic regions within the tumour. Hypoxia inducible factor (HIF) is the key mediator of cellular response to hypoxia, activating the expression of multiple genes that participate in angiogenesis, iron metabolism, glycolysis, glucose transport and cell proliferation and survival.

Cytoplasmic tail of IL-13Ralpha2 regulates IL-4 signal transduction.

IL (interleukin)-4 and IL-13 are key cytokines in the pathogenesis of allergic inflammatory disease. IL-4 and IL-13 share many functional properties as a result of their utilization of a common receptor complex comprising IL-13Ralpha1 (IL-13 receptor alpha-chain 1) and IL-4Ralpha. The second IL-13R (IL-13 receptor) has been identified, namely IL-13Ralpha2.