Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining

Soil extracts are routinely used to quantify dissolved organic nutrient concentrations in soil. Here we studied the loss and transformation of low molecular weight (LMW) components of DOC (C-14-glucose, 1 and 100 mu M) and DON (C-14-amino acid mixture, 1 and 100 mu M) during extraction of soil (0-6 h) with either distilled water or 0.5 M K2SO4. The extractions were performed at 20 degrees C, at 4

Open Source Software (OSS) created a paradigm shift within the software engineering field prompting further research to understand how mature, industry grade, software can be produced in an online milieu with distributed and lightly managed developers contributing source code in their free time. The OSS has become also a major revenue generator for many commercial organizations, and has found its

Drug treatment has been and will continue to be a successful method in modern medicine that can change the course of a disease. However, it is surprisingly seldom used in the more technically oriented orthopedic surgery. Bone healing and physiological skeletal remodeling involve a complex set of regulated signaling pathways that control the formation of new bone matrix and the resorption of damage

BACKGROUND: Obstructed labour is still a major cause of maternal and perinatal morbidity and mortality in Uganda, where many women give birth at home alone or assisted by non-skilled birth attendants. Little is known of how the community view obstructed labour, and what actions they take in cases where this complication occurs. OBJECTIVE: The objective of the study was to explore community members

This paper concerns the Cesàro operator acting on various spaces of analytic functions on the unit disc. The remarkable fact that this operator is subnormal when acting on the Hardy space H2 has lead to extensive studies of its spectral picture on other spaces of this type. We present some of the methods that have been used to obtain information about the spectrum of the Cesàro operator acting on

One option for coping with wasteful uses of fresh water in landscape irrigation is to use the treated greywater(GW). In the present study, an evaluation of a simple treatment system for reusing GW to irrigate green areas,trees, and ornamentals all over the campus in Tafila Technical University (TTU), Jordan, is presented. After 12 months of using the treatment system, the necessity for using fresh

FLT3 and c-KIT are crucial regulators of hematopoietic stem and progenitor cells. We investigated the role of STS1 and STS2 on FLT3 and c-KIT phosphorylation, activity, and function in normal and stress-induced hematopoiesis. STS1/STS2-deficient mice show a profound expansion of multipotent progenitor and lymphoid primed multipotent progenitor cells with elevated colony-forming capacity. Although

Purpose: This paper illustrates the social and economic impact of services delivered by a small charity to families affected by post-natal depression (PND). It highlights challenges and offers insights to the meaning of ‘value for money’ for commissioners of public health services. Design/methodology/approach: The analysis is based on a social return on investment (SROI) approach. Evidence was g

Objective: Occupational workload has been associated with an increased risk of osteoarthritis. The objective was to further examine the association between workload and occurrence of osteoarthritis and in particular to study whether heavy workload has similar importance as a causative factor for osteoarthritis of the hip and knee. Methods: In a cohort study, the authors investigated the incidence

Popular Abstract in Swedish Elektromagnetiska fält finns idag överallt och är en förutsättning för att det moderna samhället ska fungera. Utan att fundera närmare på det, använder vi oss ständigt av de elektromagnetiska fältens förmåga att trådlöst överföra information och energi. Några exempel är; uppvärmning av mat i mikron och på induktionshällen, samtal i mobiltelefonen, uppdatering av status In this thesis, an inverse source reconstruction method with great potential in radome diagnostics is presented. A radome is a cover that encloses an antenna in order to protect it from environmental influences. Radome diagnostics are acquired in the design process, the delivery control, and in performance verification of repaired and newly developed radomes. A measured near or far field may indic

In this paper, I argue that there is a paradigm shift in George Berkeley's philosophy between his early unpublished manuscripts (1707-1708) and the Theory of Vision (1709). If so, the traditional method of mixing published and unpublished material will lead to a confused picture of both his early, unpublished view and the doctrine that lie published.

In contemporary Ghana, the traditional system and professional social work operate as two parallel systems within the field of social work. The aim of this study was to investigate if and how the teaching of contemporary professional social work in Ghana takes into account traditional actors and practices. The traditional system includes extended family members and traditional authorities such as

Coagulation Coagulation factor XIII (FXIII), a plasma transglutaminase, is best known as the final enzyme in the coagulation cascade, where it is responsible for cross-linking of fibrin. However, a growing body of evidence has demonstrated that FXIII targets a wide range of additional substrates that have important roles in health and disease. These include antifibrinolytic proteins, with cross-li

Resource availability and limiting factors for bacterial growth during early stages of soil development (8-138 years) were studied along a chronosequence from the glacial forefield of the Damma glacier in the Swiss Alps. We determined bacterial growth (leucine incorporation) and we investigated which resource (C, N or P) limited bacterial growth in soils formed by the retreating glacier. The latte