ArticleAmerican journal of human genetics2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Open access · bronzeAbstract read
In one paragraph
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.6field-weighted citation impact, top 18% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Genes Involved in Lipid, Carbohydrate, and Protein Metabolism as Candidates Affecting Beef Flavor.Animals : an open access journal from MDPI · 2026Article
- Transcriptional regulation of human NMNAT2: insights from 3D genome sequencing and bioinformatics.The FEBS journal · 2026Article
- COPB2 facilitates EDEM3-mediated mannose trimming to sustain ER homeostasis in ovarian cancer.Cellular oncology (Dordrecht, Netherlands) · 2025Article
- Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.American journal of human genetics · 2025Article
- Development of an Endoplasmic Reticulum Stress-Related Diagnostic Signature in Polycystic Ovary Syndrome.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Article
- Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.Journal of inherited metabolic disease · 2024Article
- The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.bioRxiv : the preprint server for biology · 2024Article
- Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.The Journal of clinical investigation · 2024Article
- DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.Journal of inherited metabolic disease · 2023Article
- Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.American journal of human genetics · 2022Article
- Homo Sapiens (Hsa)-microRNA (miR)-6727-5p Contributes to the Impact of High-Density Lipoproteins on Fibroblast Wound Healing In Vitro.Membranes · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 15 institutions in 7 countries.
Daniel L PollaDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil.
Andrew C EdmondsonDepartment of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Sandrine DuvetUniversité de Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France.
Michael E MarchCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Ana Berta SousaServiço de Genética Médica, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, 649-035 Lisboa, Portugal; Faculdade de Medicina da Universidade de Lisboa, 1649-028 Lisboa, Portugal.
Anna LehmanDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
CAUSES Study
Dmitriy NiyazovTulane School of Medicine, University of Queensland, 1315 Jefferson Highway, New Orleans, LA 70121, USA.
Fleur van DijkNorth West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ London, UK.
Serwet DemirdasDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands.
Marjon A van SlegtenhorstDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands.
Anneke J A KievitDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands.
Celine SchulzUniversité de Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, F-59000 Lille, France.
Linlea ArmstrongDepartment of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Xin BiDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Daniel J RaderCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Kosuke IzumiDepartment of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elaine H ZackaiDepartment of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elisa de FrancoDepartment of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, EX2 5DW Exeter, UK.
Paula JorgeCentro de Genética Médica Jacinto de Magalhães, Centro Hospitalar do Porto, CHP, E.P.E., 4099-028 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto, 4099-028 Porto, Portugal.
Sophie C HuffelsDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Marina HommersomDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Sian EllardDepartment of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, EX2 5DW Exeter, UK; College of Medicine and Health, University of Exeter, Barrack Road, EX2 5DW Exeter, UK.
Dirk J LefeberDepartment of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Avni SantaniDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Nicholas J HandDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Hans van BokhovenDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Miao HeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: hem@email.chop.edu.
Arjan P M de BrouwerDepartment of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: arjan.debrouwer@radboudumc.nl.
Children's Hospital of Philadelphia · USErasmus MC · NLRadboud University Medical Center · NLUniversity of Pennsylvania · USRadboud University Nijmegen · NLUniversity of British Columbia · CACentre National de la Recherche Scientifique · FRCentro Hospitalar do Porto · PTHospital de Santa Maria · PTLondon North West Healthcare NHS Trust · GBRoyal Devon & Exeter NHS Foundation Trust · GBTulane University · USUniversité de Lille · FRUniversity Medical Center · USUniversity of Exeter · GB
Funding
MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7MiPS-derived hepatocytes for interrogation of lipid phenotypesU01HG006398 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI RADER, DANIEL JAMES · 2011 to 2015
$8.6MPilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI DASARI, SURENDRA · 2019 to 2023
$8.2MExploring respiratory chain glycoproteomics in mitochondrial diseaseR01GM115730 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI ARGON, YAIR, FALK, MARNI J · 2015 to 2017
$1.8MNHGRI NIH HHS U01 HG006398NIGMS NIH HHS R01 GM115730NIGMS NIH HHS T32 GM008638NINDS NIH HHS U54 NS115198
Abstract
EDEM3 encodes a protein that converts Man
Indexed as
AdolescentAllelesalpha-MannosidaseCalcium-Binding ProteinsCell LineChildChild, PreschoolCongenital Disorders of GlycosylationDevelopmental DisabilitiesEndoplasmic ReticulumFemaleGlycoproteinsGlycosylationHumansInfantIntellectual Disabilityalpha-MannosidaseCalcium-Binding ProteinsEDEM3 protein, humanGlycoproteinsPolysaccharidesCDGdysmorphismEDEM3high-mannoseMannosidasemouseN-glycanUPR
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.