TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse

Genome‐wide recombination is essential for genome stability, evolution, and speciation. Mouse Tex11, an X‐linked meiosis‐specific gene, promotes meiotic recombination and chromosomal synapsis. Here, we report that TEX11 is mutated in infertile men with non‐obstructive azoospermia and that an analogous mutation in the mouse impairs meiosis. Genetic screening of a large cohort of idiopathic infertile men reveals that TEX11 mutations, including frameshift and splicing acceptor site mutations, cause infertility in 1% of azoospermic men. Functional evaluation of three analogous human TEX11 missense mutations in transgenic mouse models identified one mutation (V748A) as a potential infertility allele and found two mutations non‐causative. In the mouse model, an intronless autosomal Tex11 transgene functionally substitutes for the X‐linked Tex11 gene, providing genetic evidence for the X‐to‐autosomal retrotransposition evolution phenomenon. Furthermore, we find that TEX11 protein levels modulate genome‐wide recombination rates in both sexes. These studies indicate that TEX11 alleles affecting expression level or substituting single amino acids may contribute to variations in recombination rates between sexes and among individuals in humans.Howard Hughes Medical Institute (Award)National Institutes of Health (U.S.) (NIH/NIGMS grant R01GM076327

Instances and connectors : issues for a second generation process language

This work is supported by UK EPSRC grants GR/L34433 and GR/L32699Over the past decade a variety of process languages have been defined, used and evaluated. It is now possible to consider second generation languages based on this experience. Rather than develop a second generation wish list this position paper explores two issues: instances and connectors. Instances relate to the relationship between a process model as a description and the, possibly multiple, enacting instances which are created from it. Connectors refers to the issue of concurrency control and achieving a higher level of abstraction in how parts of a model interact. We believe that these issues are key to developing systems which can effectively support business processes, and that they have not received sufficient attention within the process modelling community. Through exploring these issues we also illustrate our approach to designing a second generation process language.Postprin

The InterPro protein families database: the classification resource after 15 years

The InterPro database (http://www.ebi.ac.uk/interpro/) is a freely available resource that can be used to classify sequences into protein families and to predict the presence of important domains and sites. Central to the InterPro database are predictive models, known as signatures, from a range of different protein family databases that have different biological focuses and use different methodological approaches to classify protein families and domains. InterPro integrates these signatures, capitalizing on the respective strengths of the individual databases, to produce a powerful protein classification resource. Here, we report on the status of InterPro as it enters its 15th year of operation, and give an overview of new developments with the database and its associated Web interfaces and software. In particular, the new domain architecture search tool is described and the process of mapping of Gene Ontology terms to InterPro is outlined. We also discuss the challenges faced by the resource given the explosive growth in sequence data in recent years. InterPro (version 48.0) contains 36 766 member database signatures integrated into 26 238 InterPro entries, an increase of over 3993 entries (5081 signatures), since 201

Electromagnetic Wave Theory and Applications

Contains table of contents for Section 3, reports on four research projects and a list of publications.National Aeronautics and Space Administration Grant NAGW-1617National Aeronautics and Space Administration Agreement 958461National Aeronautics and Space Administration Grant NAGW-1272U.S. Army Corp of Engineers Contract DACA39-87-K-0022U.S. Navy - Office of Naval Research Grant N00014-89-J-1107U.S. Navy - Office of Naval Research Grant N00014-92-J-1616Digital Equipment CorporationJoint Services Electronics Program Contract DAAL03-92-C-0001U.S. Navy - Office of Naval Research Grant N00014-90-J-1002U.S. Navy - Office of Naval Research Grant N00014-89-J-1019U.S. Department of Transportation Agreement DTRS-57-88-C-00078TTD13U.S. Department of Transportation Agreement DTRS-57-88-C-00078TTD30U.S. Department of Transportation Agreement DTRS-57-92-C-00054TTD1DARPA/Consortium for Superconducting Electronics Contract MDA972-90-C-0021National Science Foundation Fellowship MIP 88-5876

Electromagnetic Wave Theory and Applications

Contains table of contents for Section 3 and reports on four research projects.California Institute of Technology/Jet Propulsion Laboratory Agreement 959548National Aeronautics and Space Administration Grant NAGW-1617National Aeronautics and Space Administration Agreement 958461U.S. Navy - Office of Naval Research Grant N00014-89-J-1107U.S. Navy - Office of Naval Research Grant N00014-92-J-1616U.S. Navy - Office of Naval Research Grant N00014-92-J-4098Digital Equipment CorporationJoint Services Electronics Program Contract DAAL03-92-C-0001U.S. Navy - Office of Naval Research Agreement N00014-90-J-1002U.S. Navy - Office of Naval Research Agreement N00014-89-J-1019DEMACOU.S. Army Cold Regions Research and Engineering Laboratory Contract DACA89-93-K-0009U.S. Department of Transportation Agreement DTRS-57-92-C-00054TTD1Advanced Research Projects Agency/Consortium for Superconducting Electronics Contract MDA972-90-C-0021National Science Foundation Fellowship MIP 88-58764National Science Foundatio

The diagnosis of male infertility:an analysis of the evidence to support the developments of global WHO guidance. Challenges and future research opportunities

Background: Herein, we describe the consensus guideline methodology, summarize the evidence-based recommendations we provided to the World Health Organization (WHO) for their consideration in the development of global guidance and present a narrative review of the diagnosis of male infertility as related to the eight prioritized (problem or population (P), intervention (I), comparison (C) and outcome(s) (O) (PICO)) questions. Additionally, we discuss the challenges and research gaps identified during the synthesis of this evidence.Objective and Rationale: The aim of this paper is to present an evidence-based approach for the diagnosis of male infertility as related to the eight prioritized PICO questions.Search Methods: Collating the evidence to support providing recommendations involved a collaborative process as developed by WHO, namely: identification of priority questions and critical outcomes; retrieval of up-to-date evidence and existing guidelines; assessment and synthesis of the evidence; and the formulation of draft recommendations to be used for reaching consensus with a wide range of global stakeholders. For each draft recommendation the quality of the supporting evidence was then graded and assessed for consideration during a WHO consensus.Outcomes: Evidence was synthesized and recommendations were drafted to address the diagnosis of male infertility specifically encompassing the following: What is the prevalence of male infertility and what proportion of infertility is attributable to the male? Is it necessary for all infertile men to undergo a thorough evaluation? What is the clinical (ART/non ART) value of traditional semen parameters? What key male lifestyle factors impact on fertility (focusing on obesity, heat and tobacco smoking)? Do supplementary oral antioxidants or herbal therapies significantly influence fertility outcomes for infertile men? What are the evidence-based criteria for genetic screening of infertile men? How does a history of neoplasia and related treatments in the male impact on (his and his partner’s) reproductive health and fertility options? And lastly, what is the impact of varicocele on male fertility and does correction of varicocele improve semen parameters and/or fertility?Wider Implications: This evidence synthesis analysis has been conducted in a manner to be considered for global applicability for the diagnosis of male infertility

Developing lab activities for an introductory anatomy course: Reflections and recommendations from a faculty/student partnership.

All presenters: Megan M. Murtagh, Kalina N. Georgieva, Claudia M. Town, Bradley D. Mangham, Rebecca Misiasz, Robert Oates, David M. AndrewsStudents “as partners� challenges the notion that students simply consume knowledge, but rather, they are viewed as co-producers of knowledge (Green, 2019). This approach used in curriculum development is illustrated in this research project. Five undergraduate students and one graduate student collaborated with a faculty member to develop ten lab activities for a first-year anatomy course in Kinesiology. All student partners had taken the course previously and had expressed their passion for the subject matter. With guidance and support from the course instructor, students utilized the knowledge and experiences they had acquired in the course to design lab experiences that aligned with the course content. This approach is consistent with other studies in which students worked with faculty members to adapt curriculum for future students (Spencer et al., 2021). Once the lab activities were created, the students were asked to reflect upon their experience. The instructor encouraged the discussion of various elements in the reflections, such as how the students felt working in the partnership, and their discoveries related to curriculum development. The students were also asked to consider the impact of the partnership on both their well-being and on higher education in general. The analysis revealed seven themes which will be shared in the presentation. Several recommendations, including the importance of maintaining effective communication, fostering group cohesion, and developing a knowledge transfer plan, will also be offered to help inform other students and faculty members who wish to engage in a similarly effective partnership. Bibliography: Green, W. (2019). Engaging “Students as Partners� in global learning: Some possibilities and provocations. Journal of Studies in International Education, 23(1), 10–29. https://doi.org/10.1177/1028315318814266 Spencer, B., Tori, K., & Campbell, R. (2021). Undergraduates as course creators: Reflections on starting and sustaining a student-faculty partnership. International Journal for Students as Partners, 5(1), 138-145. https://doi.org/10.15173/ijsap.v5i1.439

Bayesian Probabilistic Numerical Methods in Time-Dependent State Estimation for Industrial Hydrocyclone Equipment

The use of high-power industrial equipment, such as large-scale mixing equipment or a hydrocyclone for separation of particles in liquid suspension, demands careful monitoring to ensure correct operation. The fundamental task of state-estimation for the liquid suspension can be posed as a time-evolving inverse problem and solved with Bayesian statistical methods. In this article, we extend Bayesian methods to incorporate statistical models for the error that is incurred in the numerical solution of the physical governing equations. This enables full uncertainty quantification within a principled computation-precision trade-off, in contrast to the over-confident inferences that are obtained when all sources of numerical error are ignored. The method is cast within a sequential Monte Carlo framework and an optimized implementation is provided in Python

The diagnosis of male infertility: an analysis of the evidence to support the development of global WHO guidance-challenges and future research opportunities

Background: Herein, we describe the consensus guideline methodology, summarize the evidence-based recommendations we provided to the World Health Organization (WHO) for their consideration in the development of global guidance and present a narrative review of the diagnosis of male infertility as related to the eight prioritized (problem or population (P), intervention (I), comparison (C) and outcome(s) (O) (PICO)) questions. Additionally, we discuss the challenges and research gaps identified during the synthesis of this evidence. Objective and rationale: The aim of this paper is to present an evidence-based approach for the diagnosis of male infertility as related to the eight prioritized PICO questions. Search methods: Collating the evidence to support providing recommendations involved a collaborative process as developed by WHO, namely: identification of priority questions and critical outcomes; retrieval of up-to-date evidence and existing guidelines; assessment and synthesis of the evidence; and the formulation of draft recommendations to be used for reaching consensus with a wide range of global stakeholders. For each draft recommendation the quality of the supporting evidence was then graded and assessed for consideration during a WHO consensus. Outcomes: Evidence was synthesized and recommendations were drafted to address the diagnosis of male infertility specifically encompassing the following: What is the prevalence of male infertility and what proportion of infertility is attributable to the male? Is it necessary for all infertile men to undergo a thorough evaluation? What is the clinical (ART/non ART) value of traditional semen parameters? What key male lifestyle factors impact on fertility (focusing on obesity, heat and tobacco smoking)? Do supplementary oral antioxidants or herbal therapies significantly influence fertility outcomes for infertile men? What are the evidence-based criteria for genetic screening of infertile men? How does a history of neoplasia and related treatments in the male impact on (his and his partner's) reproductive health and fertility options? And lastly, what is the impact of varicocele on male fertility and does correction of varicocele improve semen parameters and/or fertility? Wider implications: This evidence synthesis analysis has been conducted in a manner to be considered for global applicability for the diagnosis of male infertility