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Katalin Susztak, MD, PhD
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Professor of Medicine (Renal-Electrolyte and Hypertension)
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Hospital Appointment, Philadelphia VA Medical Center
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Member, Institute of Diabetes and Obesity and Metabolism
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Member, Institute of Translational Medicine and Therapeutics
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Member of MD PhD admission Committee, PSOM
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Codirectorof complications unit , Institute of Diabetes Obesity and Metabolism
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Member, Department of Medicine PSOM promotion Committee
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Co-Chair, Penn/CHOP Kidney Innovation Center
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Department: Medicine
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Graduate Group Affiliations
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Contact information
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12-123 Smilow Center for Translational Research
39 3400 Civic Center Blvd
Philadelphia, PA 19104
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39 3400 Civic Center Blvd
Philadelphia, PA 19104
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Office: 215 898 2009
3e Lab: 215 898 2008
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3e Lab: 215 898 2008
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Publications
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Education:
21 7 MD c
51 Semmelweis University, Medical School, Budapest, Hungary, 1995.
21 8 PhD c
51 Semmelweis University, Medical School, Budapest, Hungary, 1997.
21 7 MS c
47 Albert Einstein College of Medicine, Bronx, NY, 2004.
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Permanent link21 7 MD c
51 Semmelweis University, Medical School, Budapest, Hungary, 1995.
21 8 PhD c
51 Semmelweis University, Medical School, Budapest, Hungary, 1997.
21 7 MS c
47 Albert Einstein College of Medicine, Bronx, NY, 2004.
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18 Research details
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e3 Chronic kidney disease is an enormous burden on society. Our team aims to understand the genetics and molecular mechanism of kidney disease development, with the ultimate goal of finding new, more effective therapies.
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189 We made discoveries fundamental towards defining critical genes, cell types and mechanisms of chronic kidney disease. Our studies were instrumental in defining genetic, epigenetic and transcriptional changes in diseased human kidneys. We identified multiple novel kidney disease genes and demonstrated role of Notch signaling and metabolic dysregulation in kidney disease development.
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b9 Our lab was the first to map the kidney epigenome and catalogue genotype-driven gene-expression variation (eQTL) in human kidneys. Integration of genome-wide association studies
6e (GWAS), eQTL and epigenome data has been essential to prioritize disease-causing genes and variants.
8
ef Our team generated the first unbiased, comprehensive kidney cell-type atlas using single cell transcriptomics. We identified that specific renal endophenotypes are linked and likely caused by the dysfunction of specific cell types.
8
139 In follow-up animal model studies, we conclusively demonstrated that MANBA, DAB2, CASP9, DPEP1/CHMP1A, DACH1 and APOL1 are new kidney disease risk genes. Her work established the role of proximal tubule cells, endolysosomal trafficking, metabolic and developmental pathways in kidney disease development.
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bd Our discoveries span genetics, genomics, epigenetics, molecular biology, physiology and nephrology, and have enormous translational relevance and considerable therapeutic potential.
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19 Rotation Projects
3a There are several; please speak with Dr. Susztak.
8
17 Lab Personnel:
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25 Hongbo Liu-postoctoral fellow
28 Poona Dhillon-postoctoral fellow
2b Ghazal Quinn-Instructor of Medicine
25 Hailong Hu-postoctoral fellow
27 Amin Abedini-postoctoral fellow
2a Dhanunjay Mukhi-postoctoral fellow
26 Jianfu Zhou-postoctoral fellow
27 Xiujie Liang-postoctoral fellow
27 Bibek Poudel-postoctoral fellow
2c Daigoro Hiroshima-postoctoral fellow
22 Shen Li-Visiting scientist
29 Andrea Sanchez-postoctoral fellow
29 Samer Mohandes-postoctoral fellow
16 Yu Yan-Student
2d Lakshmi Kolligunda-postoctoral fellow
1a Jonathan Levinsohn
22 Li Zeng-Visiting scientist
24 Konstantin Kloetzer -Student
23 Lauren Lee-graduate student
2d Mehrbod Vakhshoori-postoctoral fellow
2a Andi Bergeson- Research specialist
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1e Selected Publications:
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c4 1. Niranjan T, Bielesz B, Gruenwald A, Ponda MP, Kopp JB, Thomas DB, Susztak K (2008)The Notch pathway in podocytes plays a role in the development of glomerular disease. Nat Med 14:290-8.
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10f 2. Kang HM, Ahn SH, Choi P, Ko YA, Han SH, Chinga F, Park AS, Tao J, Sharma K, Pullman J, Bottinger EP, Goldberg IJ, Susztak K (2015) Defective fatty acid oxidation in renal tubular epithelial cells has a key role in kidney fibrosis development. Nat Med 21:37-46.
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b6 3. Beckerman P, Bi-Karchin J, Park AS, … Susztak K (2017) Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice. Nat Med 23:429-38.
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dc 4. Park J, Shrestha R, Qiu C, Kondo A, Huang S, Werth M, Li M, Barasch J, Susztak K (2018) Single-cell transcriptomics of the mouse kidney reveals potential cellular targets of kidney disease. Science 360:758-63.
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134 5. Qiu C, Huang S, Park J, Park Y, Ko YA, Seasock MJ, Bryer JS, Xu XX, Song WC, Palmer M, Hill J, Guarnieri P, Hawkins J, Boustany-Kari CM, Pullen SS, Brown CD, Susztak K (2018) Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease. Nat Med 24:1721-31.
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c2 6. Wu J, Ma Z, Raman A, … Susztak K (2021) APOL1 risk variants in individuals of African genetic ancestry drive endothelial cell defects that exacerbate sepsis. Immunity 54:2632-49 e6.
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9b 7. Wu J, Raman A, Coffey NJ, … Susztak K (2021) The key role of NLRP3 and STING in APOL1-associated podocytopathy. J Clin Invest 131(20):e136329.
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c7 8. Gu X, Yang H, Sheng X, … Susztak K (2021) Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity. Sci Transl Med 13(576):eaaz1458..
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136 9. Doke T, Huang S, Qiu C, Liu H, Guan Y, Hu H, Ma Z, Wu J, Miao Z, Sheng X, Zhou J, Cao A, Li J, Kaufman L, Hung A, Brown CD, Pestell R, Susztak K (2021) Transcriptome-wide association analysis identifies DACH1 as a kidney disease risk gene that contributes to fibrosis. J Clin Invest 131(10):e141801.
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174 10. Sheng X, Guan Y, Ma Z, Wu J, Liu H, Qiu C, Vitale S, Miao Z, Seasock MJ, Palmer M, Shin MK, Duffin KL, Pullen SS, Edwards TL, Hellwege JN, Hung AM, Li M, Voight BF, Coffman TM, Brown CD, Susztak K (2021) Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments. Nat Genet 53:1322-33.
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Description of Research Expertise
a1 Research interest: Work in my laboratory is aimed toward the understanding of molecular pathways that govern chronic kidney disease development.8
18 Research details
8
e3 Chronic kidney disease is an enormous burden on society. Our team aims to understand the genetics and molecular mechanism of kidney disease development, with the ultimate goal of finding new, more effective therapies.
8
189 We made discoveries fundamental towards defining critical genes, cell types and mechanisms of chronic kidney disease. Our studies were instrumental in defining genetic, epigenetic and transcriptional changes in diseased human kidneys. We identified multiple novel kidney disease genes and demonstrated role of Notch signaling and metabolic dysregulation in kidney disease development.
8
b9 Our lab was the first to map the kidney epigenome and catalogue genotype-driven gene-expression variation (eQTL) in human kidneys. Integration of genome-wide association studies
6e (GWAS), eQTL and epigenome data has been essential to prioritize disease-causing genes and variants.
8
ef Our team generated the first unbiased, comprehensive kidney cell-type atlas using single cell transcriptomics. We identified that specific renal endophenotypes are linked and likely caused by the dysfunction of specific cell types.
8
139 In follow-up animal model studies, we conclusively demonstrated that MANBA, DAB2, CASP9, DPEP1/CHMP1A, DACH1 and APOL1 are new kidney disease risk genes. Her work established the role of proximal tubule cells, endolysosomal trafficking, metabolic and developmental pathways in kidney disease development.
8
bd Our discoveries span genetics, genomics, epigenetics, molecular biology, physiology and nephrology, and have enormous translational relevance and considerable therapeutic potential.
8
19 Rotation Projects
3a There are several; please speak with Dr. Susztak.
8
17 Lab Personnel:
8
25 Hongbo Liu-postoctoral fellow
28 Poona Dhillon-postoctoral fellow
2b Ghazal Quinn-Instructor of Medicine
25 Hailong Hu-postoctoral fellow
27 Amin Abedini-postoctoral fellow
2a Dhanunjay Mukhi-postoctoral fellow
26 Jianfu Zhou-postoctoral fellow
27 Xiujie Liang-postoctoral fellow
27 Bibek Poudel-postoctoral fellow
2c Daigoro Hiroshima-postoctoral fellow
22 Shen Li-Visiting scientist
29 Andrea Sanchez-postoctoral fellow
29 Samer Mohandes-postoctoral fellow
16 Yu Yan-Student
2d Lakshmi Kolligunda-postoctoral fellow
1a Jonathan Levinsohn
22 Li Zeng-Visiting scientist
24 Konstantin Kloetzer -Student
23 Lauren Lee-graduate student
2d Mehrbod Vakhshoori-postoctoral fellow
2a Andi Bergeson- Research specialist
8
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1e Selected Publications:
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c4 1. Niranjan T, Bielesz B, Gruenwald A, Ponda MP, Kopp JB, Thomas DB, Susztak K (2008)The Notch pathway in podocytes plays a role in the development of glomerular disease. Nat Med 14:290-8.
8
10f 2. Kang HM, Ahn SH, Choi P, Ko YA, Han SH, Chinga F, Park AS, Tao J, Sharma K, Pullman J, Bottinger EP, Goldberg IJ, Susztak K (2015) Defective fatty acid oxidation in renal tubular epithelial cells has a key role in kidney fibrosis development. Nat Med 21:37-46.
8
b6 3. Beckerman P, Bi-Karchin J, Park AS, … Susztak K (2017) Transgenic expression of human APOL1 risk variants in podocytes induces kidney disease in mice. Nat Med 23:429-38.
8
dc 4. Park J, Shrestha R, Qiu C, Kondo A, Huang S, Werth M, Li M, Barasch J, Susztak K (2018) Single-cell transcriptomics of the mouse kidney reveals potential cellular targets of kidney disease. Science 360:758-63.
8
134 5. Qiu C, Huang S, Park J, Park Y, Ko YA, Seasock MJ, Bryer JS, Xu XX, Song WC, Palmer M, Hill J, Guarnieri P, Hawkins J, Boustany-Kari CM, Pullen SS, Brown CD, Susztak K (2018) Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease. Nat Med 24:1721-31.
8
c2 6. Wu J, Ma Z, Raman A, … Susztak K (2021) APOL1 risk variants in individuals of African genetic ancestry drive endothelial cell defects that exacerbate sepsis. Immunity 54:2632-49 e6.
8
9b 7. Wu J, Raman A, Coffey NJ, … Susztak K (2021) The key role of NLRP3 and STING in APOL1-associated podocytopathy. J Clin Invest 131(20):e136329.
8
c7 8. Gu X, Yang H, Sheng X, … Susztak K (2021) Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity. Sci Transl Med 13(576):eaaz1458..
8
136 9. Doke T, Huang S, Qiu C, Liu H, Guan Y, Hu H, Ma Z, Wu J, Miao Z, Sheng X, Zhou J, Cao A, Li J, Kaufman L, Hung A, Brown CD, Pestell R, Susztak K (2021) Transcriptome-wide association analysis identifies DACH1 as a kidney disease risk gene that contributes to fibrosis. J Clin Invest 131(10):e141801.
8
174 10. Sheng X, Guan Y, Ma Z, Wu J, Liu H, Qiu C, Vitale S, Miao Z, Seasock MJ, Palmer M, Shin MK, Duffin KL, Pullen SS, Edwards TL, Hellwege JN, Hung AM, Li M, Voight BF, Coffman TM, Brown CD, Susztak K (2021) Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments. Nat Genet 53:1322-33.
e 29
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dc Martinez Leon V, Hilburg R, Susztak K.: Mechanisms of diabetic kidney disease and established and emerging treatments. Nat Rev Endocrinol Sep 2025.
11f Anandh U, Anders HJ, Bacchetta J, Johnson DW, Luyckx V, Remuzzi G, Rodriguez-Iturbe B, Susztak K, Tuttle K, Yanagita M.: Two decades of nephrology research: progress and future challenges. Nat Rev Nephrol Sep 2025.
156 Li C, Marschner JA, Kusunoki Y, Zhang N, Li X, Deng H, Zhao Z, Watanabe-Kusunoki K, Zhu Z, Xu Y, Steiger S, Lech M, Susztak K, Schulz C, Anders HJ.: Macrophage Zc3h12c Limits Tissue Inflammation and Injury via Alternative Splicing of Pre-mRNA. Adv Sci (Weinh) Aug 2025.
1a9 Md Dom ZI, Moon S, Satake E, Hirohama D, Palmer ND, Lampert H, Ficociello LH, Abedini A, Fernandez K, Liang X, Pickett S, Levinsohn J, O'Neil K, Dillon ST, Mauer M, Galecki AT, Freedman BI, Susztak K, Doria A, Krolewski AS, Niewczas MA.: Urinary Complement proteome strongly linked to diabetic kidney disease progression. Nat Commun 16: 7291, Aug 2025.
181 Hirohama D, Fadista J, Ha E, Liu H, Abedini A, Levinsohn J, Vassalotti A, Zeng L, Li C, Mohandes S, Vitale S, Shungin D, Nguyen T, Niewczas MA, Olsson N, McAllister FE, Karihaloo A, Susztak K.: The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health. Nat Med Aug 2025.
18b Ojo AO, Adu D, Bramham K, Freedman BI, Gbadegesin RA, Ilori TO, Jefferson N, Olabisi OA, Susztak K, Young BA, Cheung M, King JM, Grams ME, Jadoul M, Ulasi II; Conference Participants.: APOL1 kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int Jun 2025.
34d Cole JB, Dahlström EH, Fermin D, Gupta Y, Hill C, Smyth LJ, Liu H, Kreienkamp RJ, Pezzolesi MG, Cao JJ, Valo E, Chen WM, Onengut-Gumuscu S, Rich SS, Brennan EP, Andrews D, Kennedy C, Gu HF, Stechemesser L, Weitgasser R, Sokolovska J, Radzeviciene L, Verkauskiene R, Panduru NM, Rossing P, Ahluwalia TS, Zerbini G, Marre M, Hadjadj S, Costacou T, Miller RG, Klein BE, Lee KE, Snell-Bergeon JK, Caramori ML, Mauer M, Brismar K, Bjornstad P, McKnight AJ, McKay G, Nair V, Salem RM, Groop PH, Godson C, Susztak K, Kretzler M, Maxwell AP, Krolewski A, Paterson A, Sandholm-Lafferre N, Florez JC, Hirschhorn JN.: Genome-Wide Association Study of Quantitative Kidney Function in 52,531 Individuals with Diabetes Identifies Five Diabetes-Specific Loci. J Am Soc Nephrol May 2025.
18a Kolligundla LP, Sullivan KM, Mukhi D, Andrade-Silva M, Liu H, Guan Y, Gu X, Wu J, Doke T, Hirohama D, Guarnieri P, Hill J, Pullen SS, Kuo J, Inamoto M, Susztak K.: Glutathione-specific gamma-glutamylcyclotransferase 1 (CHAC1) increases kidney disease risk by modulating ferroptosis. Sci Transl Med 17: eadn3079, Apr 2025.
112 Mukhi D, Kolligundla LP, Doke T, Silva MA, Liu H, Palmer M, Susztak K.: The actin and microtubule network regulator WHAMM is identified as a key kidney disease risk gene. Cell Rep 44: 115462, Apr 2025.
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Selected Publications
16b Yuan M, Jin K, Yan H, Schroeder A, Luo C, Yao S, Dumoulin B, Levinsohn J, Luo T, Clemenceau J, Jang I, Kim M, Liu Y, Deng M, Furth EE, Wilson P, Nayak A, Lubo I, Soto LMS, Wang L, Park JH, Susztak K, Hwang TH, Li M.: Designing smart spatial omics experiments with S2Omics. bioRxiv Sep 2025.dc Martinez Leon V, Hilburg R, Susztak K.: Mechanisms of diabetic kidney disease and established and emerging treatments. Nat Rev Endocrinol Sep 2025.
11f Anandh U, Anders HJ, Bacchetta J, Johnson DW, Luyckx V, Remuzzi G, Rodriguez-Iturbe B, Susztak K, Tuttle K, Yanagita M.: Two decades of nephrology research: progress and future challenges. Nat Rev Nephrol Sep 2025.
156 Li C, Marschner JA, Kusunoki Y, Zhang N, Li X, Deng H, Zhao Z, Watanabe-Kusunoki K, Zhu Z, Xu Y, Steiger S, Lech M, Susztak K, Schulz C, Anders HJ.: Macrophage Zc3h12c Limits Tissue Inflammation and Injury via Alternative Splicing of Pre-mRNA. Adv Sci (Weinh) Aug 2025.
1a9 Md Dom ZI, Moon S, Satake E, Hirohama D, Palmer ND, Lampert H, Ficociello LH, Abedini A, Fernandez K, Liang X, Pickett S, Levinsohn J, O'Neil K, Dillon ST, Mauer M, Galecki AT, Freedman BI, Susztak K, Doria A, Krolewski AS, Niewczas MA.: Urinary Complement proteome strongly linked to diabetic kidney disease progression. Nat Commun 16: 7291, Aug 2025.
181 Hirohama D, Fadista J, Ha E, Liu H, Abedini A, Levinsohn J, Vassalotti A, Zeng L, Li C, Mohandes S, Vitale S, Shungin D, Nguyen T, Niewczas MA, Olsson N, McAllister FE, Karihaloo A, Susztak K.: The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health. Nat Med Aug 2025.
18b Ojo AO, Adu D, Bramham K, Freedman BI, Gbadegesin RA, Ilori TO, Jefferson N, Olabisi OA, Susztak K, Young BA, Cheung M, King JM, Grams ME, Jadoul M, Ulasi II; Conference Participants.: APOL1 kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int Jun 2025.
34d Cole JB, Dahlström EH, Fermin D, Gupta Y, Hill C, Smyth LJ, Liu H, Kreienkamp RJ, Pezzolesi MG, Cao JJ, Valo E, Chen WM, Onengut-Gumuscu S, Rich SS, Brennan EP, Andrews D, Kennedy C, Gu HF, Stechemesser L, Weitgasser R, Sokolovska J, Radzeviciene L, Verkauskiene R, Panduru NM, Rossing P, Ahluwalia TS, Zerbini G, Marre M, Hadjadj S, Costacou T, Miller RG, Klein BE, Lee KE, Snell-Bergeon JK, Caramori ML, Mauer M, Brismar K, Bjornstad P, McKnight AJ, McKay G, Nair V, Salem RM, Groop PH, Godson C, Susztak K, Kretzler M, Maxwell AP, Krolewski A, Paterson A, Sandholm-Lafferre N, Florez JC, Hirschhorn JN.: Genome-Wide Association Study of Quantitative Kidney Function in 52,531 Individuals with Diabetes Identifies Five Diabetes-Specific Loci. J Am Soc Nephrol May 2025.
18a Kolligundla LP, Sullivan KM, Mukhi D, Andrade-Silva M, Liu H, Guan Y, Gu X, Wu J, Doke T, Hirohama D, Guarnieri P, Hill J, Pullen SS, Kuo J, Inamoto M, Susztak K.: Glutathione-specific gamma-glutamylcyclotransferase 1 (CHAC1) increases kidney disease risk by modulating ferroptosis. Sci Transl Med 17: eadn3079, Apr 2025.
112 Mukhi D, Kolligundla LP, Doke T, Silva MA, Liu H, Palmer M, Susztak K.: The actin and microtubule network regulator WHAMM is identified as a key kidney disease risk gene. Cell Rep 44: 115462, Apr 2025.
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