ArticleThe Journal of biological chemistry2017
Identification and characterization of a missense mutation in the
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In one paragraph
Article in The Journal of biological chemistry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed, 1 pooled it
4.9field-weighted citation impact, top 4% 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
74 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- The human O-GlcNAcome database and meta-analysis.Scientific data · 2021Pooled it
- Pathogenic O-GlcNAc dyshomeostasis is associated with cortical malformations and hyperactivity.eLife · 2026Article
- Cross-talk between glycosylation pathways: Mechanistic insights and implications for human diseases.Molecular metabolism · 2026Review
- OGT as a metabolic-epigenetic integrator in cancer: context-dependent mechanisms and therapeutic vulnerabilities.Molecular medicine (Cambridge, Mass.) · 2026Review
- O-GlcNAc transferase governs spermatogenic mitotic-to-meiotic transition and progression by coordinating transcription and alternative splicing programs.Cellular & molecular biology letters · 2026Article
- Systematic mapping of O-GlcNAc transferase and O-GlcNAcase defines disease-associated variants.The Journal of biological chemistry · 2026Article
- Genetic Rescue of Pathogenic O-GlcNAc Dyshomeostasis Associated with Microcephaly and Motor Deficits.eNeuro · 2026Article
- Human O-GlcNAcase catalytic-stalk dimer anchors flexible histone binding domains.Communications chemistry · 2025Article
- Zscan4 as a Candidate Conveyor of Early Developmental Defects in O-GlcNAc Transferase Intellectual Disability.Molecular & cellular proteomics : MCP · 2025Article
- Ubiquitin ligase signalling networks shape presynaptic development, function and disease.The Journal of physiology · 2025Review
- Brain O-GlcNAcylation: Bridging physiological functions, disease mechanisms, and therapeutic applications.Molecular psychiatry · 2025Review
- Linking O-GlcNAc and intron retention.eLife · 2025Article
- Perturbing nuclear glycosylation in the mouse preimplantation embryo slows down embryonic development.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- HumanResearch square · 2025Article
- Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.Stem cell reports · 2025Article
- O-GlcNAcylation of the intellectual disability protein DDX3X exerts proteostatic cell cycle control.Open biology · 2025Article
- Genetic gradual reduction of OGT activity unveils the essential role of O-GlcNAc in the mouse embryo.PLoS genetics · 2025Article
- Article
- Distinct Regions within SAP25 Recruit O-Linked Glycosylation, DNA Demethylation, and Ubiquitin Ligase and Hydrolase Activities to the Sin3/HDAC Complex.Journal of proteome research · 2024Article
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 6 institutions in 2 countries.
Krithika VaidyanathanFrom the Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602.
Tejasvi Niranjanthe McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287.
Nithya SelvanFrom the Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602.
Chin Fen TeoFrom the Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602.
Melanie Maythe Greenwood Genetic Center, Greenwood, South Carolina 29646.
Sneha PatelFrom the Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602.
Brent WeatherlyFrom the Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602.
Cindy Skinnerthe Greenwood Genetic Center, Greenwood, South Carolina 29646.
John OpitzPediatrics (Medical Genetics), Pediatric Pathology, Human Genetics, Obstetrics, and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah 84132.
John CareyPediatrics (Medical Genetics), Pediatric Pathology, Human Genetics, Obstetrics, and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah 84132.
David ViskochilPediatrics (Medical Genetics), Pediatric Pathology, Human Genetics, Obstetrics, and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah 84132.
Jozef Geczthe Department of Paediatrics and Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5006, Australia, and.
Marie Shawthe Department of Paediatrics and Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5006, Australia, and.
Yunhui Pengthe Department of Computational Biophysics and Bioinformatics, Clemson University, Clemson, South Carolina 29634.
Emil Alexovthe Department of Computational Biophysics and Bioinformatics, Clemson University, Clemson, South Carolina 29634.
Tao Wangthe McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287.
Charles Schwartzthe Greenwood Genetic Center, Greenwood, South Carolina 29646, ceschwartz@ggc.org.
Lance WellsFrom the Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602, lwells@ccrc.uga.edu.
University of Georgia · USGreenwood Genetic Center · USUniversity of Utah · USClemson University · USJohns Hopkins University · USUniversity of Adelaide · AU
Funding
University of Utah Center for Clinical and Translational ScienceUL1TR001067 · NCATS · UNIVERSITY OF UTAH · PI DERE, WILLARD H., HESS, RACHEL · 2013 to 2017
$19.8MTR&D1: Stem Cell and Induced Pluripotent Stem Cell Resources (Pages 116-134)P41GM103490 · NIGMS · UNIVERSITY OF GEORGIA · PI PIERCE, J. MICHAEL · 2012 to 2018
$13.7MIdentification of Novel X-linked Intellectual Disability GenesR01NS073854 · NINDS · GREENWOOD GENETIC CENTER · PI SCHWARTZ, CHARLES E, WANG, TAO · 2011 to 2013
$1.4MNCATS NIH HHS UL1 TR001067NIGMS NIH HHS P41 GM103490NINDS NIH HHS R01 NS073854
Abstract
PubMed holds no abstract for this paper.
Indexed as
Chromosomes, Human, XGene Expression Regulation, EnzymologicMutation, MissenseProtein Processing, Post-TranslationalAmino Acid SubstitutionCell Line, TransformedGlycosylationHumansMaleN-AcetylglucosaminyltransferasesRNA, MessengerX-Linked Intellectual DisabilityN-AcetylglucosaminyltransferasesO-GlcNAc transferaseRNA, Messenger
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.