ArticleAmerican journal of human genetics2014
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Open access · bronzeAbstract readCase Reports
In one paragraph
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
5.1field-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
43 citing papers in PubMed, 71 citations in OpenAlex.
- Biosynthesis of Phosphatidylethanolamine and Phosphatidylcholine via the Kennedy Pathway in Cancer and Other Pathological Conditions.International journal of molecular sciences · 2026Review
- A pcyt-1 allelic series reveals in vivo consequences of reduced phosphatidylcholine synthesis in C. elegans.G3 (Bethesda, Md.) · 2026Article
- AbioRxiv : the preprint server for biology · 2026Article
- Functions of Arabidopsis CTP:phosphocholine cytidylyltransferase 1 in phosphatidylcholine biosynthesis and root growth.Plant physiology · 2025Article
- Article
- PNPLA6 regulates retinal homeostasis by choline through phospholipid turnover.Nature communications · 2025Article
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- Cellular and organismal function of choline metabolism.Nature metabolism · 2025Review
- Selective Labeling of Phosphatidylcholine to Track Their Translocation Between Organelles in Living Cells.Methods in molecular biology (Clifton, N.J.) · 2025Article
- The Connection Between Cellular Metabolism and Retinal Disease.Advances in experimental medicine and biology · 2025Review
- PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina.BMC biology · 2024Article
- The role of phosphatidylcholine 34:1 in the occurrence, development and treatment of ulcerative colitis.Acta pharmaceutica Sinica. B · 2023Article
- Article
- Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.PLoS genetics · 2022Article
- Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.Brain : a journal of neurology · 2022Article
- Genetic diseases of the Kennedy pathways for membrane synthesis.The Journal of biological chemistry · 2020Review
- Defective minor spliceosomes induce SMA-associated phenotypes through sensitive intron-containing neural genes in Drosophila.Nature communications · 2020Article
- Article
- Familial Partial Lipodystrophy (FPLD): Recent Insights.Diabetes, metabolic syndrome and obesity : targets and therapy · 2020Review
- The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
- Commented on by
Authors and funding
18 authors at 8 institutions in 3 countries.
Julie Hoover-FongMcKusick-Nathans Institute of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: jhoover2@jhmi.edu.
Nara SobreiraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Julie JurgensMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Peggy ModaffDepartment of Pediatrics, University of Wisconsin-Madison, Madison, WI 53705, USA.
Carrie BloutMcKusick-Nathans Institute of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Ann MoserDepartment of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Ok-Hwa KimDepartment of Radiology, Ajou University Hospital, Suwon, Kyunggi 443-721, Korea.
Tae-Joon ChoDivision of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul 110-744, Korea.
Sung Yoon ChoDepartment of Pediatrics, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Gyeonggi-Do 471-701, Korea.
Sang Jin KimDepartment of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
Dong-Kyu JinDepartment of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
Hiroshi KitohDepartment of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan.
Woong-Yang ParkSamsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 440-746, Korea.
Hua LingCenter for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
Kurt N HetrickCenter for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
Kimberly F DohenyCenter for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
David ValleDepartment of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Richard M PauliDepartment of Pediatrics, University of Wisconsin-Madison, Madison, WI 53705, USA.
Johns Hopkins University · USSamsung Medical Center · KRUniversity of Wisconsin–Madison · USAjou University Hospital · KRHanyang University Guri Hospital · KRKennedy Krieger Institute · USNagoya University · JPSeoul National University Children's Hospital · KR
Funding
Institute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MUW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MBaylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MPredoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6MPostdoctoral Medical Genetics Training GrantT32GM007471 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI TAO WANG · 1985 to 2026
$8.0MNCATS NIH HHS UL1 TR001079NHGRI NIH HHS U54 HG006493NHGRI NIH HHS U54 HG006542NIGMS NIH HHS T32 GM007471NIGMS NIH HHS T32 GM007814
Abstract
PubMed holds no abstract for this paper.
Indexed as
Mutation, MissenseAllelesChild, PreschoolCholine-Phosphate CytidylyltransferaseFemaleHumansInfantMaleMiddle AgedOsteochondrodysplasiasPedigreePhosphatidylcholinesRetinitis PigmentosaCholine-Phosphate CytidylyltransferasePCYT1A protein, humanPhosphatidylcholines
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.