Genetic background commonly modifies the effects of mutations. We discovered that worms mutant for the canonical gene, identified by Brenner in 1974, do not roll in the genetic background of the wild strain CB4856. Using linkage mapping, association analysis and gene editing, we determined that N2 carries an insertion in the collagen gene that acts as a recessive enhancer of rolling. From population and comparative genomics, we infer the insertion is derived in N2 and related laboratory lines, likely arising during the domestication of , and breaking a conserved protein. The ancestral version of also modifies the phenotypes of four other classical cuticle mutant alleles, and the effects of natural genetic variation on worm shape and locomotion. These results underscore the importance of genetic background and the serendipity of Brenner's choice of strain.
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http://dx.doi.org/10.1534/g3.120.401336 | DOI Listing |
J Med Internet Res
January 2025
Department of Physical Medicine and Rehabilitation, Korea University Anam Hospital, Seoul, Republic of Korea.
Background: Rehabilomics, or the integration of rehabilitation with genomics, proteomics, metabolomics, and other "-omics" fields, aims to promote personalized approaches to rehabilitation care. Cloud-based rehabilitation offers streamlined patient data management and sharing and could potentially play a significant role in advancing rehabilomics research. This study explored the current status and potential benefits of implementing rehabilomics strategies through cloud-based rehabilitation.
View Article and Find Full Text PDFClin Exp Dermatol
January 2025
St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Background: In recessive dystrophic epidermolysis bullosa (RDEB), complications like oesophageal strictures, hand contractures, cardiomyopathy and cutaneous squamous cell carcinoma (SCC) may develop, necessitating procedures such as oesophageal dilatation (OD), gastrostomy tube placement and hand surgery.
Objectives: To determine prevalence and age of onset of milestone events by RDEB subtype, specifically dysphagia, first OD, first gastrostomy tube, first hand surgery, cardiomyopathy, first SCC and death.
Methods: The Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) is a register study of individuals with RDEB which records comprehensive EB- and non-EB-related health information.
Int Nurs Rev
March 2025
College of Nursing, Seoul, National University, Seoul, South Korea.
Aim: To synthesize evidence on factors influencing negative outcomes following patient safety incidents.
Background: Patient safety incidents affect not only patients and families but also healthcare workers (second victims) and institutions (third victims). Nurses are at risk due to stressful environments and direct patient care, leading to defensive practices, job turnover, and errors.
J Am Soc Nephrol
January 2025
Nephrology Division, Department of Medicine, the Third Affiliated Hospital, Sun Yat-sen University, Guangzhou, 510630, China.
Background: Peritoneal fibrosis is a serious complication of long-term peritoneal dialysis (PD) and abdominal surgeries, yet effective treatments remain elusive. Given the known roles of mucosal-associated invariant T (MAIT) cells in immune responses and fibrotic diseases, we investigated their involvement in PD-induced peritoneal fibrosis to identify potential therapeutic targets.
Methods: We employed single-cell RNA sequencing (scRNA-seq) and flow cytometry to characterize the activation and function of peritoneal MAIT cells in patients undergoing long-term PD.
Clin J Am Soc Nephrol
January 2025
Section of Nephrology, University of Chicago Medicine.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage kidney disease (ESKD) and occurs without racial predilection. In general, non-White ESKD patients have less access to transplantation, especially living donor transplantation. We examined long-term outcomes of ADPKD-ESKD patients by self-reported race, with attention to the trajectory of Estimated Post-Transplant Survival (EPTS) scores over time.
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