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Missense mutations in MORC2 cause neuropathies including spinal muscular atrophy and Charcot-Marie-Tooth disease. We recently identified MORC2 as an effector of epigenetic silencing by the human silencing hub (HUSH). Here we report the biochemical and cellular activities of MORC2 variants, alongside crystal structures of wild-type and neuropathic forms of a human MORC2 fragment comprising the GHKL

Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing by the HUSH complex. HUSH recruits MORC2 to target sites in heterochromatin. We ex

This article focuses on the role of lay health promoters in the Lindängen initiative, a community-based participatory research (CBPR) programme for health promotion that started 2016 in a low-income neighbourhood in the outskirts of Malmö, southern Sweden. The programme aimed to support equitable health and develop an innovative model for community health promotion. The purpose of this article is

Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication cohorts. The previous largest genome-wide association studies (GWAS) identified SNCA and TMEM175 loci on chromosome (Chr) 4 with a significant influence on the AAO of PD; th

Both in the social and natural sciences, methodologies have been developed to deal with relatively stable conditions, where findings can be validated based on past experiences. At a time when both social and natural phenomena are rapidly changing, new approaches are urgently needed to produce knowledge for systemic change, inform high-stakes decisions, and enable sustainability transitions in the

A major challenge of genome-wide association studies (GWASs) is to translate phenotypic associations into biological insights. Here, we integrate a large GWAS on blood lipids involving 1.6 million individuals from five ancestries with a wide array of functional genomic datasets to discover regulatory mechanisms underlying lipid associations. We first prioritize lipid-associated genes with expressi

Background and purpose: To determine the prevalence of vertebral hemangiomas (VHs), establish a new classification of VHs based on their MRI-signal pattern, and study their natural history. Methods: MRI of 1000 consecutive patients who underwent at least two MRI with an interval of at least 3 years. Growth rate and change of MRI-signal pattern during the follow-up period were the parameters includ

The educational opportunities of refugee learners are shaped by forces of globalization, restrictive mobility regimes and geopolitical agendas, that place them in a position of structural disadvantage. The majority of the world's refugee learners have fled due to armed conflict and reside in neighboring countries in the global South. In many cases forced displacement is protracted, with limited gl

Almost half of all divorced Swedes today are aged 60+ and many of them are, or have been, a part of a reconstituted family (Bildtgård & Öberg 2014). This means that the probability of having step-grandchildren increases in a life cycle perspective. For those who have never had neither children nor stepchildren, a sibling's or a friend's grandchild can have the same meaning as a step-grandchildAlmost half of all divorced Swedes today are aged 60+ and many of them are, or have been, a part of a reconstituted family (Bildtgård & Öberg 2014). This means that the probability of having step-grandchildren increases in a life cycle perspective. For those who have never had neither children nor stepchildren, a sibling's or a friend's grandchild can have the same meaning as a step-grandchild

Introduction Adequately addressing the needs of patients at the end of life and their relatives is pivotal in preventing unnecessary suffering and optimising their quality of life. The purpose of the iLIVE study is to contribute to high-quality personalised care at the end of life in different countries and cultures, by investigating the experiences, concerns, preferences and use of care of termin

To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loci that have not been previously reported. We replicated 26 signals and identified 10 new lead associations from previously reported loci. Rare-variant associations tended to be specific to po

Postoperative endophthalmitis is a dreaded complication of intraocular surgery. Acute presentations need prompt management and good knowledge of differential diagnoses. In the last 10 years, progress in direct microbial detection and identification from intraocular samples included the use of blood culture systems and, more recently, matrix-assisted laser desorption ionization time-of-flight mass

Despite the fact that several cases of unsafe pesticide use among farmers in different parts of Africa have been documented, there is limited evidence regarding which specific interventions are effective in reducing pesticide exposure and associated risks to human health and ecology. The overall goal of the African Pesticide Intervention Project (APsent) study is to better understand ongo

Background: This international study aimed to characterise the impact of acute SARS-CoV-2 infection in people with cystic fibrosis and investigate factors associated with severe outcomes. Methods Data from 22 countries prior to 13th December 2020 and the introduction of vaccines were included. It was de-identified and included patient demographics, clinical characteristics, treatments, outcomes an

This paper provides a theoretical synthesis of three research areas – gender, nationalism and citizenship – by linking together the gendered discourses of ethno-nationalism and citizenship. It explores the potential for building a gender equal citizenship in societies divided by ethno-national conflict. More specifically, it analyzes women’s activism and participation in public and political life

Importance: Sentinel lymph node (SLN) biopsy is a standard staging procedure for cutaneous melanoma. Regional disease control is a clinically important therapeutic goal of surgical intervention, including nodal surgery. Objective: To determine how frequently SLN biopsy without completion lymph node dissection (CLND) results in long-term regional nodal disease control in patients with SLN metastase

Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. Across four