ArticleScience translational medicine2021
Kidney disease genetic risk variants alter lysosomal beta-mannosidase (
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Article in Science translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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38citing papers in PubMed, 2 pooled it
5.0field-weighted citation impact, top 4% of its field
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- Chronic kidney diseases and inflammation research: a bibliometric analysis.Frontiers in medicine · 2024Pooled it
- Global research progress and trends in traditional Chinese medicine for chronic kidney disease since the 21st century: a bibliometric analysis.Frontiers in medicine · 2024Pooled it
- Effects of comorbid chronic kidney disease on late-onset hypophosphatasia mice under treatment with asfotase alfa.JBMR plus · 2026Article
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- TRAP5 Inhibition Targeting Scar-Associated Macrophages Ameliorates Acute Kidney Injury to Chronic Kidney Disease Transition.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- MUC20 alleviates kidney fibrosis by modulating pyroptosis through the MET/RAS/STING axis.Theranostics · 2026Article
- A Genetic Perspective to Reveal the Impact of Mitochondrial Dysfunction-related Genes on Diabetic Kidney Disease: A Multi-omics Study.Current medicinal chemistry · 2026Article
- Mechanisms of diabetic kidney disease and established and emerging treatments.Nature reviews. Endocrinology · 2026Review
- Article
- Identifying genes associated with Sorafenib resistance in hepatocellular carcinoma to develop risk model.Discover oncology · 2025Article
- Multimodal analysis stratifies genetic susceptibility and reveals the pathogenic mechanism of kidney injury in diabetic nephropathy.Cell reports. Medicine · 2025Article
- Toxic Effects of Acute Water Selenium Exposure onAnimals : an open access journal from MDPI · 2025Article
- The Omics-Driven Machine Learning Path to Cost-Effective Precision Medicine in Chronic Kidney Disease.Proteomics · 2025Review
- Distinct Urinary Proteome Changes Across Estimated Glomerular Filtration Rate Stages in a Cohort of Black South Africans.International journal of molecular sciences · 2025Article
- A Primary Care Guide to the Screening and Pharmacologic Management of Chronic Kidney Disease in People Living With Type 2 Diabetes.Clinical diabetes : a publication of the American Diabetes Association · 2025Article
- Article
- Integrated multi-omics with machine learning to uncover the intricacies of kidney disease.Briefings in bioinformatics · 2024Review
- Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.Kidney research and clinical practice · 2024Article
- Genome-wide association studies reconstructing chronic kidney disease.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Review
- Article
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Authors and funding
28 authors at 9 institutions in 2 countries.
Xiangchen GuDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0003-1159-8565
Hongliu YangDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0001-5304-4777
Xin ShengDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-3620-3577
Yi-An KoDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Chengxiang QiuDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-6346-8669
Jihwan ParkDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-5728-912X
Shizheng HuangDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-9240-1578
Rachel KemberInstitute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.ORCID 0000-0001-8820-2659
Renae L JudyDepartment of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Joseph ParkInstitute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.ORCID 0000-0002-3313-641X
Scott M DamrauerDepartment of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Girish NadkarniDivision of Nephrology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Ruth J F LoosThe Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-8532-5087
Vy Thi Ha MyThe Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-5117-3740
Kumardeep ChaudharyThe Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-4117-6403
Erwin P BottingerThe Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-6868-6676
Ishan ParanjpeThe Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-5144-0370
Aparna SahaThe Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0003-3911-8391
Christopher BrownDepartment of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-3785-5008
Shreeram AkileshDepartment of Pathology, University of Washington, Seattle, WA 98195, USA.ORCID 0000-0003-3152-7991
Adriana M HungNashville VA Medical Center, Nashville, TN 37212, USA.ORCID 0000-0002-3203-1608
Matthew PalmerDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Aris BarasRegeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
John D OvertonRegeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.ORCID 0000-0001-7650-8634
Jeffrey ReidRegeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.ORCID 0000-0001-8645-4713
Marylyn RitchieInstitute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.ORCID 0000-0002-1208-1720
Daniel J RaderDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Katalin SusztakDepartment of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. ksusztak@pennmedicine.upenn.edu.ORCID 0000-0002-1005-3726
University of Pennsylvania · USIcahn School of Medicine at Mount Sinai · USTranslational Therapeutics (United States) · USRegeneron (United States) · USNashville VA Medical Center · USPhiladelphia VA Medical Center · USShanghai University of Traditional Chinese Medicine · CNSichuan University · CNUniversity of Washington · US
Funding
Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4MRole of the Notch Pathway in Kidney InjuryR01DK076077 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATALIN SUSZTAK · 2007 to 2026
$8.0MEpigenetics of Chronic Kidney DiseaseR01DK087635 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATALIN SUSZTAK · 2009 to 2026
$7.0MAPOL1 associated kidney diseaseR01DK105821 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2016 to 2024
$4.6MEpigenetic drivers and biomarkers of diabetic kidney diseaseDP3DK108220 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2015 to 2015
$2.4MThe role of cytosolic nucleotide sensors in inflammatory fibrosisR01DK132630 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2022 to 2025
$2.0MPrecision Cardio-Metabolic Phenotyping for Genetic Discovery and Risk PredictionIK2CX001780 · VA · PHILADELPHIA VA MEDICAL CENTER · PI DAMRAUER, SCOTT MICHAEL · 2018 to 2023
–Pharmacogenomics of risk factors and therapies outcomes for kidney diseaseI01BX003360 · VA · VETERANS HEALTH ADMINISTRATION · PI HUNG, ADRIANA · 2017 to 2020
–BLRD VA I01 BX003360CSRD VA IK2 CX001780NCATS NIH HHS UL1 TR001878NIDDK NIH HHS DP3 DK108220NIDDK NIH HHS R01 DK076077NIDDK NIH HHS R01 DK087635NIDDK NIH HHS R01 DK105821NIDDK NIH HHS R01 DK132630
Abstract
More than 800 million people in the world suffer from chronic kidney disease (CKD). Genome-wide association studies (GWAS) have identified hundreds of loci where genetic variants are associated with kidney function; however, causal genes and pathways for CKD remain unknown. Here, we performed integration of kidney function GWAS and human kidney-specific expression quantitative trait analysis and identified that the expression of beta-mannosidase (
Indexed as
beta-MannosidaseKidney DiseasesAnimalsGenome-Wide Association StudyHumansLysosomesMannosidasesMiceRisk FactorsSeverity of Illness Indexbeta-MannosidaseMANBA protein, humanMannosidases
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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.