ArticleNature communications2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 52 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 1 pooled it
6.6field-weighted citation impact, top 3% 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
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 87 citations in OpenAlex.
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.Journal of inherited metabolic disease · 2026Review
- Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant.Clinical epigenetics · 2026Article
- The inherent fragility of collective proliferative control.iScience · 2025Article
- Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.International journal of neonatal screening · 2025Article
- First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.Molecular biology reports · 2025Article
- Review
- Identification and validation of crotonylation-related diagnostic markers for lung adenocarcinoma via weighted correlation network analysis and machine learning.Translational lung cancer research · 2025Article
- Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.Journal of inherited metabolic disease · 2025Article
- Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.Journal of inherited metabolic disease · 2025Article
- Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.Clinical epigenetics · 2024Article
- Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.International journal of neonatal screening · 2024Article
- Vitamin BInternational journal of molecular sciences · 2024Review
- The role of epigenetics in rare diseases.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Review
- Transgenerational Epigenetic DNA Methylation Editing and Human Disease.Biomolecules · 2023Review
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
- Review
- Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.International journal of molecular sciences · 2022Article
- Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.iScience · 2022Review
Corrections and comments
- Erratum issued
Authors and funding
31 authors at 8 institutions in 4 countries.
Jean-Louis GuéantINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France. jean-louis.gueant@univ-lorraine.fr.
Céline ChéryINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
Abderrahim OussalahINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.ORCID http://orcid.org/0000-0002-9731-4529
Javad NadafDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.
David CoelhoINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.ORCID http://orcid.org/0000-0001-7010-5789
Thomas JosseINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
Justine FlayacINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
Aurélie RobertINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
Isabelle KoscinskiINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
Isabelle GastinINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
Pierre Filhine-TresarrieuINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
Mihaela PupavacDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.
Alison BrebnerDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.
David WatkinsDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.
Tomi PastinenDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.
Alexandre MontpetitDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.
Fadi HaririDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.
David TregouëtSorbonne Universités, UPMC University Paris 06, Institut National pour la Santé et la Recherche Médicale (INSERM), ICAN Institute for Cardiometabolism and Nutrition, Unité Mixte de Recherche en Santé (UMR_S) 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, 75013 Paris, France.
Benjamin A RabyChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, United States of America.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, NY, 10032, United States of America.
Pierre-Emmanuel MorangeINSERM, UMR_S1062, Nutrition Obesity and Risk of Thrombosis, Aix-Marseille University, 13005, Marseille, France.
D Sean FroeseDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital, CH-8032, Zürich, Switzerland.
Matthias R BaumgartnerDivision of Metabolism and Children's Research Centre (CRC), University Children's Hospital, CH-8032, Zürich, Switzerland.
Jean-François BenoistService de Biochimie Hormonologie, Hôpital Robert Debré, 75019, Paris, France.
Can FiciciogluChildren's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, United States of America.
Virginie MarchandLaboratoire Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), UMR7365 CNRS - Université de Lorraine and FR3209 CNRS- Université de Lorraine, 54505, Nancy, France.
Yuri MotorinLaboratoire Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), UMR7365 CNRS - Université de Lorraine and FR3209 CNRS- Université de Lorraine, 54505, Nancy, France.
Chrystèle BonnemainsINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
François FeilletINSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France.
Jacek MajewskiDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.ORCID http://orcid.org/0000-0003-3572-9558
David S RosenblattDepartment of Human Genetics, McGill University and Research Institute McGill University Health Centre, Montreal, H4A 3J1, Quebec, Canada.
Inserm · FRMcGill University Health Centre · CACentre National de la Recherche Scientifique · FRUniversity Children's Hospital Zurich · CHBrigham and Women's Hospital · USChildren's Hospital of Philadelphia · USColumbia University · USHôpital Robert-Debré · FR
Funding
No grant is acknowledged in the PubMed record.
Abstract
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B
Indexed as
Epistasis, GeneticMutationAllelesAzacitidineBase SequenceCarrier ProteinsEnzyme InhibitorsFamily HealthFemaleFibroblastsHeterozygoteHumansMaleMetabolism, Inborn ErrorsOxidoreductasesPedigreeAzacitidineCarrier ProteinsEnzyme InhibitorsMMACHC protein, humanOxidoreductasesPeroxiredoxinsPRDX1 protein, humanVitamin B 12
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
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.