ArticleMolecular genetics and metabolism2025
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.
Erratum issuedAbstract readLetter
In one paragraph
Article in Molecular genetics and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.
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0citing papers in PubMed
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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.
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Corrections and comments
- Erratum issued
Authors and funding
19 authors.
Kinsley BelleDepartment of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Stanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America.
Alexander KreymermanDepartment of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Stanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, United States of America.
Jill L YoungDepartment of Pediatrics, Kaiser Permanente, Sacramento, CA, United States of America.
Nirmal VadgamaStanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Palo Alto, CA, United States of America; Betty Irene Moore Children's Heart Center, BASE Research Initiative, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America; Department of Pediatric Genetics, Stanford University School of Medicine, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America.
Marco H JiDepartment of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America.
Sandeep RandhawaAssociated Retinal Consultants at William Beaumont Hospital, Royal Oak, MI, United States of America.
Juan CaicedoBroad Institute, Cambridge, MA, United States of America.
Megan WongDepartment of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America.
Stephanie P MuscatDepartment of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America.
Casey A GiffordBetty Irene Moore Children's Heart Center, BASE Research Initiative, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America; Department of Pediatric Genetics, Stanford University School of Medicine, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America.
Richard T LeeDepartment of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA, United States of America.
Jamal NasirDivision of Life Sciences, University of Northampton, UK.
Gregory M EnnsDepartment of Pediatric Genetics, Stanford University School of Medicine, Lucille Packard Children's Hospital, Palo Alto, CA, United States of America.
Ioannis KarakikesDepartment of Cardiothoracic Surgery, Stanford University School of Medicine, Palo Alto, CA, United States of America.
Andrew M SchaeferMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.
Robert W TaylorMitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.
Mark MercolaStanford Cardiovascular Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Palo Alto, CA, United States of America.
Dwight KoeberlDepartment of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, United States of America. Electronic address: dwight.koeberl@duke.edu.
Edward H WoodDepartment of Ophthalmology, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, United States of America; Austin Retina Associates and Dell Medical School Department of Ophthalmology, Austin, TX, United States of America. Electronic address: Ehuntw@gmail.com.
Funding
Project 3 (Mercola)P01HL141084 · NHLBI · STANFORD UNIVERSITY · PI Joseph C. Wu · 2019 to 2026
$21.1MStanford Vision Research CoreP30EY026877 · NEI · STANFORD UNIVERSITY · PI Jeffrey L Goldberg · 2017 to 2026
$8.0MMicroRNA Control of Dilated CardiomyopathyR01HL130840 · NHLBI · STANFORD UNIVERSITY · PI MARK MERCOLA, Shankar Subramaniam · 2016 to 2026
$4.6MHigh throughput platform for simultaneous multiparametric assessment of cardiac physiology for heart failure drug developmentR33HL167258 · NHLBI · STANFORD UNIVERSITY · PI MERCOLA, MARK · 2023 to 2024
$908kKinetic Imaging Cytometer (KIC) for High Throughput Studies of Cellular PhysiologyS10OD030264 · OD · STANFORD UNIVERSITY · PI MERCOLA, MARK · 2021 to 2021
$528kNEI NIH HHS P30 EY026877NHLBI NIH HHS P01 HL141084NHLBI NIH HHS R01 HL130840NHLBI NIH HHS R33 HL167258NIH HHS S10 OD030264Wellcome Trust
Abstract
PubMed holds no abstract for this paper.
Indexed as
HeteroplasmyiPSC variant modellingPatient specificRare mitochondrial variantSingle cell arms-qPCR
Identifiers
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Registered trials
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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.