ArticleScientific reports2021
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
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Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
2.6field-weighted citation impact, top 10% of its field
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Who cites it
17 citing papers in PubMed, 20 citations in OpenAlex.
- Fibrocystin/polyductin (FPC): new functional insights into ARPKD pathogenesis revealed by informatics, comparative genomics, and model systems.Pediatric nephrology (Berlin, Germany) · 2026Review
- Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease.Journal of developmental biology · 2026Review
- Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.Clinical journal of the American Society of Nephrology : CJASN · 2026Observational
- Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.Kidney international · 2026Article
- Polycystic Kidney Disease in Children: The Current Status and the Next Horizon.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2025Review
- Kidney organoid models of polycystic kidney disease: challenges and future directions.American journal of physiology. Renal physiology · 2025Review
- Urinary peptide signature distinguishes autosomal recessive polycystic kidney disease from other causes of chronic kidney disease.Clinical kidney journal · 2025Article
- Two-directional trafficking of the IFT25 protein in the developing mouse sperm flagella.Biology of reproduction · 2025Article
- Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.Kidney & blood pressure research · 2025Review
- Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations.Stem cell reports · 2024Article
- MYC: there is more to it than cancer.Frontiers in cell and developmental biology · 2024Review
- Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.Advances in kidney disease and health · 2023Review
- Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in cpk mice and human ARPKD.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
- Spotlight on Genetic Kidney Diseases: A Call for Drug Delivery and Nanomedicine Solutions.ACS nano · 2023Review
- Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities.Journal of clinical medicine · 2023Review
- Differential regulation of MYC expression byFrontiers in cell and developmental biology · 2023Article
- Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes,Frontiers in molecular biosciences · 2022Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Chaozhe YangCenter for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA.
Naoe HarafujiCenter for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA.
Amber K O'ConnorCenter for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA.
Robert A KestersonDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL, 35294, USA.
Jacob A WattsCenter for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA.
Amar J MajmundarDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Daniela A BraunDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Monkol LekProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kristen M LaricchiaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hanan M FathyAlexandria Faculty of Medicine, University of Alexandria, Alexandria, Egypt.
Shrikant ManeDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Shirlee ShrilDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Friedhelm HildebrandtDepartment of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Lisa M Guay-WoodfordCenter for Translational Research, Children's National Research Institute, 111 Michigan Ave NW, Washington, DC, 20010, USA. LGuaywoo@childrensnational.org.
Boston Children's Hospital · USUniversity of Alabama at Birmingham · USBroad Institute · USAlexandria University · EGHarvard University · USYale University · US
Funding
XRAY CRYSTALLOGRAPHYP30CA013148 · NCI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Robert S Welner · 1985 to 2026
$165.9MYale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MRenal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI SOMLO, STEFAN · 2008 to 2022
$16.8MUAB Recessive PKD Research and Translational Core CenterP30DK074038 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI YODER, BRADLEY K. · 2005 to 2019
$16.6MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MUAB Pilot Center for Precision Animal Modeling (C-PAM) - Resource and Service SectionU54OD030167 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI John M Parant · 2020 to 2026
$15.3MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MROS Modulation of Innate and Adaptive Immunity in RAP30AR048311 · NIAMS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI MOUNTZ, JOHN D · 2001 to 2017
$9.5MUAB Diabetes Research and Training CenterP60DK079626 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI GARVEY, W TIMOTHY · 2008 to 2012
$8.4MThe Child Heath Research CenterK12HD052896 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Wendy K Chung · 2007 to 2026
$7.9MNovel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6MRESEARCH TRAINING IN PEDIATRIC NEPHROLOGYT32DK007726 · NIDDK · CHILDREN'S HOSPITAL BOSTON · PI BRISCOE, DAVID M. · 1994 to 2023
$5.9MNCATS NIH HHS UL1 TR001863NCI NIH HHS P30 CA013148NHGRI NIH HHS R01 HG009141NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG006504NHGRI NIH HHS UM1 HG008900NIAMS NIH HHS P30 AR048311NICHD NIH HHS K12 HD052896NIDDK NIH HHS K08 DK125768NIDDK NIH HHS P30 DK074038NIDDK NIH HHS P30 DK079310NIDDK NIH HHS P60 DK079626NIDDK NIH HHS R01 DK068306NIDDK NIH HHS R01 DK076683NIDDK NIH HHS R01 DK121530NIDDK NIH HHS T32 DK007726NIH HHS U54 OD030167
Abstract
Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1
Indexed as
AnimalsChild, PreschoolDown-RegulationGenetic Predisposition to DiseaseGenetic VariationHumansKidneyMaleMembrane ProteinsMiceMice, TransgenicPolycystic Kidney, Autosomal RecessiveProto-Oncogene Proteins c-mycCYS1 protein, humanMembrane ProteinsMYC protein, humanProto-Oncogene Proteins c-myc
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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.