ArticleAmerican journal of human genetics2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Registry-linked trialOpen access · bronzeAbstract read
In one paragraph
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 71 papers.
0numbers the graph read from it
0cells of the map it votes in
71citing papers in PubMed
6.5field-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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
71 citing papers in PubMed, 94 citations in OpenAlex.
- ClC-7 links PIKfyve inhibition to Rab-dependent LRRK2 activity at lysosomes.The Journal of cell biology · 2026Article
- Quantitative comparison of PI(3,5)PMolecular biology of the cell · 2026Article
- Ion transport as a determinant of membrane fusion and fission.Nature structural & molecular biology · 2026Review
- Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.EMBO molecular medicine · 2026Article
- A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling.Translational vision science & technology · 2026Article
- TMEM175 does not function as a proton-selective ion channel to prevent lysosomal over-acidification.The Journal of cell biology · 2026Article
- Focusing on microglial mitochondria-lysosome crosstalk and neuroinflammation underlying depression: from molecular pathways to potential therapeutic interventions.Frontiers in immunology · 2026Review
- LRRK2 integrates Rab and GABARAP interactions to sense and respond to distinct lysosomal stresses.bioRxiv : the preprint server for biology · 2025Article
- Quantitative comparison of PI(3,5)PbioRxiv : the preprint server for biology · 2025Article
- Mechanism of phosphoinositide regulation of lysosomal pH via inhibition of CLC-7.bioRxiv : the preprint server for biology · 2025Article
- Lysosomal LRRC8 complex impacts lysosomal pH, morphology, and systemic glucose metabolism.Science advances · 2025Article
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Sorting nexin 10 regulates lysosomal ionic homeostasis via ClC-7 by controlling PI(3,5)P2.The Journal of cell biology · 2025Article
- The function of chloride channels in digestive system disease (Review).International journal of molecular medicine · 2025Review
- SNX10 Is Involved in Ovarian Cancer Cell Metastasis by Repolarizing Tumor-Associated Macrophages Through mTOR1/Lysosomes Pathway.Biomedicines · 2025Article
- Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity.Nature communications · 2025Article
- Membrane Transport Modulates the pH-Regulated Feedback of an Enzyme Reaction Confined within Lipid Vesicles.ACS nano · 2025Article
- A patient with TPCN2-related hypopigmentation and ocular phenotype.European journal of human genetics : EJHG · 2025Article
- Linking endo-lysosomal pH, sterol, and trafficking to neurodegenerative disease.FEMS yeast research · 2025Review
- Identification of a novel mutation in theFrontiers in pediatrics · 2025Article
11 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
27 authors at 10 institutions in 1 country.
Elena-Raluca NicoliUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
Mary R WestonMembrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Mary HackbarthUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
Alissa BecerrilMembrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Austin LarsonSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Wadih M ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.
Peter R BakerSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
John Douglas BurkeHuman Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Heidi DorwardHuman Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Mariska DavidsUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
Yan HuangUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
David R AdamsUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Patricia M ZerfasDiagnostic and Research Services Branch, Office of Research Services, NIH, Bethesda, MD 20892, USA.
Dong ChenDivision of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Thomas C MarkelloUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Camilo ToroUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Tim WoodMetabolic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.
Gene ElliottEmbryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Mylinh VuNational Center for Translational Science, NIH, Rockville, MD 20850, USA.
Undiagnosed Diseases NetworkUndiagnosed Diseases Network, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
Wei ZhengNational Center for Translational Science, NIH, Rockville, MD 20850, USA.
Lisa J GarrettEmbryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Cynthia J TifftUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
William A GahlUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Debra L Day-SalvatoreDepartment of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ 08901, USA.
Joseph A MindellMembrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA. Electronic address: mindellj@ninds.nih.gov.
May Christine V MalicdanUndiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address: malicdanm@mail.nih.gov.
National Institutes of Health · USNational Human Genome Research Institute · USNational Institute of Neurological Disorders and Stroke · USNational Center for Advancing Translational Sciences · USUniversity of Colorado Denver · USSaint Peter's University Hospital · USGreenwood Genetic Center · USMayo Clinic in Arizona · USNational Eye Institute · USOffice of Research Services · US
Funding
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MNHGRI/DIR Embryonic Stem Cell and Transgenic Mouse CoreZICHG200349 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BURGESS, SHAWN M · 2010 to 2025
$23.8MChloride fluxes in organellar membranesZIANS003015 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI MINDELL, JOSEPH A · 2009 to 2025
$14.2MClinical Pursuits by the NHGRI Office of the Clinical DirectorZIAHG200402 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2019 to 2019
$122kAbstract
Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps in combination with a counterion transporter such as the Cl
Indexed as
Genetic VariationAcidsAlbinismAnimalsChloride ChannelsFemaleFibroblastsHumansHydrogen-Ion ConcentrationInfantLysosomal Storage DiseasesLysosomesMaleMiceOocytesXenopus laevisAcidsChloride ChannelsCLCN7 protein, humanClcn7 protein, mousechloroquineClC-7 antiportercutaneous albinismlysosomal hyperaciditylysosomal membrane counterionlysosomal pHlysosomal storage diseaseoculocutaneous albinism
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
NCT02450851ClinicalTrials.gov
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.