• Rahbek Slater posted an update 6 months ago

    The new C. remanei genome presented here greatly augments the use of the Caenorhabditis as a platform for comparative genomics and serves as a basis for molecular population genetics within this highly diverse species. Copyright © 2020, Genetics.The polysaccharide pectin is a major component of the plant cell wall. The pectic glycan homogalacturonan (HG) is a proportionally small but important component of a specialized seed cell wall called mucilage. HG is synthesized in a highly methylesterified form, and, following secretion, is de-methylesterified by pectin methylesterases (PMEs). Degree of methylesterification (DM) of HG determines the structural and functional properties of pectin, but how methylesterification is regulated remains largely unknown. Here, we identified two BEL1-Like homeodomain (BLH) transcription factors BLH2 and BLH4 as positive regulators of HG de-methylesterification in Arabidopsis seed coat mucilage. BLH2 and BLH4 were significantly expressed in mucilage secretory cells during seed mucilage production. BLH2 and BLH4 single mutants exhibited no obvious mucilage phenotype, but the blh2 blh4 double mutant displayed significantly reduced mucilage adherence to the seed. Reduced mucilage adherence in blh2 blh4 was caused by decreased PME activity in the seed coat, which increased DM of HG in mucilage. The expression of several PME metabolism-related genes including PME58, PECTIN METHYLESTERASE INHIBITOR6, SEEDSTICK, and MYB52 was significantly altered in blh2 blh4 seeds. BLH2 and BLH4 directly activated PME58 expression by binding to its TGACAGGT cis-element. Moreover, pme58 mutants exhibited reduced mucilage adherence similar to that of blh2 blh4, and the blh2 blh4 pme58 triple mutant exhibited no additional mucilage adherence defects. Furthermore, overexpression of PME58 in blh2 blh4 rescued the mucilage adherence defect. Together, these results demonstrate that BLH2 and BLH4 redundantly regulate de-methylesterification of HG in seed mucilage by directly activating PME58. copyright, serif 2020 American Society of Plant Biologists. All rights reserved.We investigated the molecular and cellular basis of severe combined immunodeficiency (SCID) in six patients with otofaciocervical syndrome type 2 who failed to attain T cell reconstitution after allogeneic hematopoietic stem cell transplantation, despite successful engraftment in three of them. We identified rare biallelic PAX1 rare variants in all patients. We demonstrated that these mutant PAX1 proteins have an altered conformation and flexibility of the paired box domain and reduced transcriptional activity. We generated patient-derived induced pluripotent stem cells and differentiated them into thymic epithelial progenitor cells and found that they have an altered transcriptional profile, including for genes involved in the development of the thymus and other tissues derived from pharyngeal pouches. These results identify biallelic, loss-of-function PAX1 mutations as the cause of a syndromic form of SCID due to altered thymus development. Copyright © 2020 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.OBJECTIVES Despite substantial and rapid improvements in contraceptive uptake in Uganda, many women continue to have unmet need for contraception. As factors affecting contraceptive use are dynamic and complex, this study seeks to identify current predictors and provide effect size estimates of contraceptive use among women and men in Uganda. STUDY DESIGN A nationally representative cross-sectional population survey, using secondary data from Uganda’s 2016 Demographic and Health Survey. Stratified by sex, weighted bivariable and multivariable logistic regression models were derived from a suite of potential predictor variables. Predictive abilities were assessed via 10-fold cross-validated area under the receiver operating characteristic curves (AUCs). SETTING Uganda. PARTICIPANTS All women aged 15-49 years who were permanent residents of the selected households or stayed in the household the night before the survey were eligible to participate. Merestinib manufacturer In one-third of the sampled households, all men aged 15-54 yearsnforming future programmatic and policy directions for family planning in Uganda. © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.INTRODUCTION Gynaecological cancers collectively account for almost 10% of cancer diagnoses made in Australian women. The extent of variation in gynaecological cancer survival rates and treatment outcomes across Australia is not well documented. The purpose of the clinical quality registry described in this paper is to systematically monitor and improve quality of care provided to these women, and facilitate clinical process improvements to ensure better patient outcomes and greater adherence to best practice care. The registry infrastructure has been developed in conjunction alongside the inaugural ovarian, tubal and peritoneal (OTP) module, allowing for concurrent piloting of the methodology and one module. Additional tumour modules will be developed in time to cover the other gynaecological tumour types. METHOD AND ANALYSIS The National Gynae-Oncology Registry (NGOR) aims to capture clinical data on all newly diagnosed cancers of the uterus, ovary, fallopian tubes, peritoneum, cervix, vulva and vagina in Aheir employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.INTRODUCTION The clinical teaching unit (CTU) has emerged as a near-ubiquitous model of clinical education across Canadian and international medical schools since it was first proposed over 50 years ago. However, while healthcare has changed dramatically over this period, the CTU model has remained largely unchanged. We thus aimed to systematically review principles of CTU design that contribute to improved outcomes in clinical education and health service delivery. METHODS AND ANALYSIS We will perform a realist systematic review in accordance with the Realist And Meta-narrative Evidence Syntheses Evolving Standards (RAMESES) II protocol for realist reviews. Databases, including MEDLINE, Embase, Cochrane Database of Systematic Reviews and Cumulative Index of Nursing and Allied Health Literature (CINAHL), were searched to find primary research articles published from 1993 to 2019 involving CTUs or other teaching wards, and outcomes related to either trainee education or health service delivery. Two reviewers will independently screen studies in a two-stage process.

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