Harvard Catalyst Profiles

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Martin Russell Pollak, M.D.


We are working to identify genes involved in the development of focal segmental glomerulosclerosis (FSGS). FSGS is a common form of renal disease, seen both as an isolated entity and as a consequence of other primary processes. Towards this goal, blood for DNA extraction and clinical analyses have been performed on members of approximately 125 families with an inherited form of this condition, as well as over a hundred sporadic cases. We identified the first FSGS locus on chromosome 19q13. We have recently found mutations in ACTN4, encoding alpha-actinin-4, as the cause of disease in FSGS-1 linked families. Because FSGS is also a cause of renal dysfunction secondary to multiple other diseases, we are examining the role of this FSGS gene as a candidate renal dysfunction susceptibility gene. Current efforts are also underway to understand the function of ACTN4 and the mechanism of this form of kidney disease. We have developed “knockout” and “knockin” mouse models. We are working to identify additional human FSGS genes by genetic linkage and candidate gene approaches.

A second major focus of study is the extracellular calcium receptor. Previously, I cloned the human calcium-sensing receptor (CaR) gene and demonstrated that CaR defects cause three distinct disorders of extracellular calcium homeostasis. Our current work utilizes mouse models to further define the role of CaR. Mating mice heterozygous CaR "knockout" mice with mice with a targeted disruption of the preproPTH gene generates mice with both mutations. Mice homozygous for both "knockout" alleles, unlike the CaR-deficient mice, are viable because they will be incapable of developing the otherwise lethal hypercalcemia characteristic of CaR-deficient mice. We are using these mice to study the role of CaR in the intestine, in the kidney, as well as in the brain and bone marrow. In addition, we are using Cre/Lox technology to develop tools to allow tissue specific inactivation of CaR.

Available: 06/01/17, Expires: 07/01/22

There are several general areas of study within my laboratory that provide potential projects for students: 1.We recently showed that variants in the APOL1 gene account for the large disparity in the rates of kidney disease between people of recent African ancestry and other groups. There are potential projects to help better understand this at many levels: genetic testing in humans; social and ethical implications; cell biologic studies to understand disease mechanism; development of animal models. 2. We do family based genetic studies to look for new genes involved in the etiology of kidney disease. These include studies of diseases of the glomerulus and disorders of kidney development. 3. We are using mouse models to explore the role of several human disease genes, including APOL1, INF2, ACTN4, and CASR. Students could play a role in any of these studies.

FSGS-associated mutations in TRPC6 potentially disrupt membrane turnover of the channel by the multivesicular body degradation pathway
Part Time, 10/28/08 - 06/12/09

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. RC2DK122397 (POLLAK, MARTIN R.) Aug 15, 2020 - May 31, 2025
    Integrating large scale genomics and functional studies to accelerate FSGS/NS discovery
    Role: Principal Investigator
  2. R01MD014726 (FRIEDMAN, DAVID J) Feb 14, 2020 - Dec 31, 2024
    APOL1 Nephropathy: Linking Genetics and Mechanisms
    Role: Co-Principal Investigator
  3. R01MD007898 (POLLAK, MARTIN R.) Jul 3, 2013 - Jan 31, 2019
    Molecular Mechanism of APOL1 Associated Kidney Disease
    Role: Co-Principal Investigator
  4. R01MD007092 (POLLAK, MARTIN R.) Apr 1, 2012 - Jan 31, 2022
    APOL1 variants: Understanding the basis of disparities in rates of kidney disease
    Role: Principal Investigator
  5. R24DK092158 (POLLAK, MARTIN R.) Sep 19, 2011 - Aug 31, 2013
    Clinical characterization of the APOL1-associated phenotype
    Role: Co-Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Chun J, Riella CV, Chung H, Shah SS, Wang M, Magraner JM, Ribas GT, Ribas HT, Zhang JY, Alper SL, Friedman DJ, Pollak MR. DGAT2 Inhibition Potentiates Lipid Droplet Formation To Reduce Cytotoxicity in APOL1 Kidney Risk Variants. J Am Soc Nephrol. 2022 Mar 01. PMID: 35232775.
    Citations:    Fields:    
  2. McNulty MT, Fermin D, Eichinger F, Jang D, Kretzler M, Burtt NP, Pollak MR, Flannick J, Weins A, Friedman DJ, Sampson MG. A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis. Kidney Int. 2021 Dec 18. PMID: 34929253.
    Citations:    Fields:    
  3. Williams S, Charest JL, Pollak MR, Subramanian B. Bioengineering Strategies to Develop Podocyte Culture Systems. Tissue Eng Part B Rev. 2021 Dec 08. PMID: 34541902.
    Citations:    Fields:    
  4. Nadkarni GN, Fei K, Galarneau G, Gao Y, Wilson JG, Cooper R, Madden EB, Denny JC, Richardson LD, Pollak M, Loos RJF, Horowitz CR. APOL1 renal risk variants are associated with obesity and body composition in African ancestry adults: An observational genotype-phenotype association study. Medicine (Baltimore). 2021 Nov 12; 100(45):e27785. PMID: 34766590.
    Citations:    Fields:    Translation:Humans
  5. McCarthy GM, Blasio A, Donovan OG, Schaller LB, Bock-Hughes A, Magraner JM, Suh JH, Tattersfield CF, Stillman IE, Shah SS, Zsengeller ZK, Subramanian B, Friedman DJ, Pollak MR. Recessive, gain-of-function toxicity in an APOL1 BAC transgenic mouse model mirrors human APOL1 kidney disease. Dis Model Mech. 2021 08 01; 14(8). PMID: 34350953.
    Citations: 2     Fields:    
  6. Bhargava R, Lehoux S, Maeda K, Tsokos MG, Krishfield S, Ellezian L, Pollak M, Stillman IE, Cummings RD, Tsokos GC. Aberrantly glycosylated IgG elicits pathogenic signaling in podocytes and signifies lupus nephritis. JCI Insight. 2021 05 10; 6(9). PMID: 33784256.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  7. Lane BM, Murray S, Benson K, Bierzynska A, Chryst-Stangl M, Wang L, Wu G, Cavalleri G, Doyle B, Fennelly N, Dorman A, Conlon S, Vega-Warner V, Fermin D, Vijayan P, Qureshi MA, Shril S, Barua M, Hildebrandt F, Pollak M, Howell D, Sampson MG, Saleem M, Conlon PJ, Spurney R, Gbadegesin R. A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. J Am Soc Nephrol. 2021 Apr 16. PMID: 33863784.
    Citations:    Fields:    
  8. Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. PMID: 33508234.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  9. Bar R, Ben-Shalom E, Duvdevani M, Belostotsky R, Pollak MR, Mount DB, Bar-Gal R, Gnessin E, Tzur S, Curhan GC, Frishberg Y. Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease. J Urol. 2021 May; 205(5):1394-1399. PMID: 33350326.
    Citations:    Fields:    Translation:Humans
  10. Sun H, Perez-Gill C, Schlöndorff JS, Subramanian B, Pollak MR. Dysregulated Dynein-Mediated Trafficking of Nephrin Causes INF2-related Podocytopathy. J Am Soc Nephrol. 2021 02; 32(2):307-322. PMID: 33443052.
    Citations: 1     Fields:    Translation:AnimalsCells
  11. Ngo D, Wen D, Gao Y, Keyes MJ, Drury ER, Katz DH, Benson MD, Sinha S, Shen D, Farrell LA, Peterson BD, Friedman DJ, Elmariah S, Young BA, Smith JG, Yang Q, Vasan RS, Larson MG, Correa A, Humphreys BD, Wang TJ, Pollak MR, Wilson JG, Gerszten RE, Rhee EP. Circulating testican-2 is a podocyte-derived marker of kidney health. Proc Natl Acad Sci U S A. 2020 10 06; 117(40):25026-25035. PMID: 32958645.
    Citations: 4     Fields:    Translation:HumansCells
  12. Berrigan M, Austrie J, Fleishman A, Tercyak KP, Pollak MR, Pavlakis M, Rohan V, Baliga PK, Kayler LK, Feeley TH, Rodrigue JR. Opinions of African American adults about the use of apolipoprotein L1 (ApoL1) genetic testing in living kidney donation and transplantation. Am J Transplant. 2021 03; 21(3):1197-1205. PMID: 32659871.
    Citations: 2     Fields:    Translation:Humans
  13. Datta S, Kataria R, Zhang JY, Moore S, Petitpas K, Mohamed A, Zahler N, Pollak MR, Olabisi OA. Kidney Disease-Associated APOL1 Variants Have Dose-Dependent, Dominant Toxic Gain-of-Function. J Am Soc Nephrol. 2020 09; 31(9):2083-2096. PMID: 32675303.
    Citations: 12     Fields:    Translation:HumansCells
  14. Friedman DJ, Pollak MR. APOL1 Nephropathy: From Genetics to Clinical Applications. Clin J Am Soc Nephrol. 2021 02 08; 16(2):294-303. PMID: 32616495.
    Citations: 17     Fields:    Translation:Humans
  15. Feng D, Kumar M, Muntel J, Gurley SB, Birrane G, Stillman IE, Ding L, Wang M, Ahmed S, Schlondorff J, Alper SL, Ferrante T, Marquez SL, Ng CF, Novak R, Ingber DE, Steen H, Pollak MR. Phosphorylation of ACTN4 Leads to Podocyte Vulnerability and Proteinuric Glomerulosclerosis. J Am Soc Nephrol. 2020 07; 31(7):1479-1495. PMID: 32540856.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  16. Hoenig MP, Steinman TI, Pollak MR, Zeidel ML. In Memorium: Burton Rose, 1942-2020. J Am Soc Nephrol. 2020 Jul; 31(7):1421-1422. PMID: 32527976.
    Citations:    Fields:    
  17. Pollak MR, Friedman DJ. The Genetic Architecture of Kidney Disease. Clin J Am Soc Nephrol. 2020 02 07; 15(2):268-275. PMID: 31992573.
    Citations: 3     Fields:    Translation:HumansAnimals
  18. Subramanian B, Chun J, Perez-Gill C, Yan P, Stillman IE, Higgs HN, Alper SL, Schlöndorff JS, Pollak MR. FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes. J Am Soc Nephrol. 2020 02; 31(2):374-391. PMID: 31924668.
    Citations: 9     Fields:    Translation:HumansAnimalsCells
  19. Chun J, Wang M, Wilkins MS, Knob AU, Benjamin A, Bu L, Pollak MR. Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease. Kidney Int Rep. 2020 Apr; 5(4):519-529. PMID: 32274456.
    Citations: 4     
  20. Drury ER, Friedman DJ, Pollak MR, Ix JH, Kuller LH, Tracy RP, Mukamal KJ. APOL1 gene variants and kidney disease in whites: the cardiovascular health study. Nephrol Dial Transplant. 2019 12 01; 34(12):2155-2156. PMID: 31580460.
    Citations:    Fields:    
  21. Ware EB, Smith JA, Zhao W, Ganesvoort RT, Curhan GC, Pollak M, Mount DB, Turner ST, Chen G, Shah RJ, Kardia SLR, Lieske JC. Genome-wide Association Study of 24-Hour Urinary Excretion of Calcium, Magnesium, and Uric Acid. Mayo Clin Proc Innov Qual Outcomes. 2019 Dec; 3(4):448-460. PMID: 31993563.
    Citations: 2     
  22. Friedman DJ, Pollak MR. APOL1 and Kidney Disease: From Genetics to Biology. Annu Rev Physiol. 2020 02 10; 82:323-342. PMID: 31710572.
    Citations: 27     Fields:    Translation:Humans
  23. Shao H, Wingert B, Weins A, Pollak MR, Camacho C, Wells A. Focal segmental glomerulosclerosis ACTN4 mutants binding to actin: regulation by phosphomimetic mutations. Sci Rep. 2019 10 29; 9(1):15517. PMID: 31664084.
    Citations: 4     Fields:    Translation:Cells
  24. Shah SS, Lannon H, Dias L, Zhang JY, Alper SL, Pollak MR, Friedman DJ. APOL1 Kidney Risk Variants Induce Cell Death via Mitochondrial Translocation and Opening of the Mitochondrial Permeability Transition Pore. J Am Soc Nephrol. 2019 12; 30(12):2355-2368. PMID: 31558683.
    Citations: 23     Fields:    Translation:HumansCells
  25. Drury ER, Stillman IE, Pollak MR, Denker BM. Autosomal Recessive Alport Syndrome Unveiled by Pregnancy. Nephron. 2019; 143(4):288-292. PMID: 31408864.
    Citations: 3     Fields:    Translation:Humans
  26. Lannon H, Shah SS, Dias L, Blackler D, Alper SL, Pollak MR, Friedman DJ. Apolipoprotein L1 (APOL1) risk variant toxicity depends on the haplotype background. Kidney Int. 2019 12; 96(6):1303-1307. PMID: 31611067.
    Citations: 15     Fields:    Translation:Humans
  27. Wang M, Chun J, Genovese G, Knob AU, Benjamin A, Wilkins MS, Friedman DJ, Appel GB, Lifton RP, Mane S, Pollak MR. Contributions of Rare Gene Variants to Familial and Sporadic FSGS. J Am Soc Nephrol. 2019 09; 30(9):1625-1640. PMID: 31308072.
    Citations: 12     Fields:    Translation:Humans
  28. Riella C, Siemens TA, Wang M, Campos RP, Moraes TP, Riella LV, Friedman DJ, Riella MC, Pollak MR. APOL1-Associated Kidney Disease in Brazil. Kidney Int Rep. 2019 Jul; 4(7):923-929. PMID: 31317114.
    Citations: 13     
  29. Chun J, Zhang JY, Wilkins MS, Subramanian B, Riella C, Magraner JM, Alper SL, Friedman DJ, Pollak MR. Recruitment of APOL1 kidney disease risk variants to lipid droplets attenuates cell toxicity. Proc Natl Acad Sci U S A. 2019 02 26; 116(9):3712-3721. PMID: 30733285.
    Citations: 27     Fields:    Translation:HumansCells
  30. Poyan Mehr A, Sadeghi-Najafabadi M, Chau K, Messmer J, Pai R, Roy N, Friedman D, Pollak MR, Schlondorff J, Naljayan M, Singh T, Lecker SH, Rodby R, Germain M, Rennke H, Stillman IE. The Glomerular Disease Study and Trial Consortium: A Grassroots Initiative to Foster Collaboration and Innovation. Kidney Int Rep. 2019 Jan; 4(1):20-29. PMID: 30596165.
    Citations: 1     
  31. Subramanian B, Kaya O, Pollak MR, Yao G, Zhou J. Guided tissue organization and disease modeling in a kidney tubule array. Biomaterials. 2018 11; 183:295-305. PMID: 30189357.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  32. Franceschini N, Kopp JB, Barac A, Martin LW, Li Y, Qian H, Reiner AP, Pollak M, Wallace RB, Rosamond WD, Winkler CA. Association of APOL1 With Heart Failure With Preserved Ejection Fraction in Postmenopausal African American Women. JAMA Cardiol. 2018 08 01; 3(8):712-720. PMID: 29971324.
    Citations: 11     Fields:    Translation:Humans
  33. Fan Y, Liu W, Bi R, Densmore MJ, Sato T, Mannstadt M, Yuan Q, Zhou X, Olauson H, Larsson TE, Toka HR, Pollak MR, Brown EM, Lanske B. Interrelated role of Klotho and calcium-sensing receptor in parathyroid hormone synthesis and parathyroid hyperplasia. Proc Natl Acad Sci U S A. 2018 04 17; 115(16):E3749-E3758. PMID: 29618612.
    Citations: 14     Fields:    Translation:Animals
  34. Zhang JY, Wang M, Tian L, Genovese G, Yan P, Wilson JG, Thadhani R, Mottl AK, Appel GB, Bick AG, Sampson MG, Alper SL, Friedman DJ, Pollak MR. UBD modifies APOL1-induced kidney disease risk. Proc Natl Acad Sci U S A. 2018 03 27; 115(13):3446-3451. PMID: 29531077.
    Citations: 21     Fields:    Translation:Humans
  35. Skorecki KL, Lee JH, Langefeld CD, Rosset S, Tzur S, Wasser WG, Shemer R, Hawkins GA, Divers J, Parekh RS, Li M, Sampson MG, Kretzler M, Pollak MR, Shah S, Blackler D, Nichols B, Wilmot M, Alper SL, Freedman BI, Friedman DJ. A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy. Nephrol Dial Transplant. 2018 02 01; 33(2):323-330. PMID: 28339911.
    Citations: 14     Fields:    Translation:Humans
  36. Feng D, Notbohm J, Benjamin A, He S, Wang M, Ang LH, Bantawa M, Bouzid M, Del Gado E, Krishnan R, Pollak MR. Disease-causing mutation in a-actinin-4 promotes podocyte detachment through maladaptation to periodic stretch. Proc Natl Acad Sci U S A. 2018 02 13; 115(7):1517-1522. PMID: 29378953.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  37. Feng D, DuMontier C, Pollak MR. Mechanical challenges and cytoskeletal impairments in focal segmental glomerulosclerosis. Am J Physiol Renal Physiol. 2018 05 01; 314(5):F921-F925. PMID: 29363327.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  38. Pollak MR. Introduction: APOL1-Associated Kidney Disease. Semin Nephrol. 2017 11; 37(6):489. PMID: 29110755.
    Citations: 1     Fields:    Translation:Humans
  39. Sato T, Courbebaisse M, Ide N, Fan Y, Hanai JI, Kaludjerovic J, Densmore MJ, Yuan Q, Toka HR, Pollak MR, Hou J, Lanske B. Parathyroid hormone controls paracellular Ca2+ transport in the thick ascending limb by regulating the tight-junction protein Claudin14. Proc Natl Acad Sci U S A. 2017 04 18; 114(16):E3344-E3353. PMID: 28373577.
    Citations: 17     Fields:    Translation:AnimalsCells
  40. Wang H, Pun PH, Kwee L, Craig D, Haynes C, Chryst-Ladd M, Svetkey LP, Patel UD, Hauser ER, Pollak MR, Kraus WE, Shah SH. Apolipoprotein L1 Genetic Variants Are Associated with Chronic Kidney Disease but Not with Cardiovascular Disease in a Population Referred for Cardiac Catheterization. Cardiorenal Med. 2017 Feb; 7(2):96-103. PMID: 28611783.
    Citations: 6     Fields:    
  41. Feng D, Steinke JM, Krishnan R, Birrane G, Pollak MR. Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing. PLoS One. 2016; 11(12):e0167467. PMID: 27977723.
    Citations: 6     Fields:    Translation:Humans
  42. Shukha K, Mueller JL, Chung RT, Curry MP, Friedman DJ, Pollak MR, Berg AH. Most ApoL1 Is Secreted by the Liver. J Am Soc Nephrol. 2017 Apr; 28(4):1079-1083. PMID: 27932478.
    Citations: 23     Fields:    Translation:Humans
  43. Pollak M. Genetics of Familial FSGS. Semin Nephrol. 2016 11; 36(6):467-472. PMID: 27987547.
    Citations: 6     Fields:    Translation:HumansCells
  44. Greka A, Gibson D, Mundel P, Demetri G, Hildebrandt F, Pollak M, Florez J. Personalized Comments on Challenges and Opportunities in Kidney Disease Therapeutics: The Glom-NExT Symposium. Semin Nephrol. 2016 11; 36(6):448. PMID: 27987543.
    Citations: 2     Fields:    Translation:Humans
  45. Bondzie PA, Chen HA, Cao MZ, Tomolonis JA, He F, Pollak MR, Henderson JM. Non-muscle myosin-IIA is critical for podocyte f-actin organization, contractility, and attenuation of cell motility. Cytoskeleton (Hoboken). 2016 Aug; 73(8):377-95. PMID: 27232264.
    Citations: 10     Fields:    Translation:HumansCells
  46. Subramanian B, Sun H, Yan P, Charoonratana VT, Higgs HN, Wang F, Lai KV, Valenzuela DM, Brown EJ, Schlöndorff JS, Pollak MR. Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury. Kidney Int. 2016 08; 90(2):363-372. PMID: 27350175.
    Citations: 23     Fields:    Translation:HumansAnimalsCells
  47. Sharma AK, Friedman DJ, Pollak MR, Alper SL. Structural characterization of the C-terminal coiled-coil domains of wild-type and kidney disease-associated mutants of apolipoprotein L1. FEBS J. 2016 05; 283(10):1846-62. PMID: 26945671.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  48. Friedman DJ, Pollak MR. Apolipoprotein L1 and Kidney Disease in African Americans. Trends Endocrinol Metab. 2016 Apr; 27(4):204-215. PMID: 26947522.
    Citations: 40     Fields:    Translation:HumansAnimals
  49. Olabisi O, Al-Romaih K, Henderson J, Tomar R, Drummond I, MacRae C, Pollak M. From man to fish: What can Zebrafish tell us about ApoL1 nephropathy? Clin Nephrol. 2016 Supplement 1; 86 (2016)(13):114-118. PMID: 27509583.
    Citations: 15     Fields:    Translation:HumansAnimalsCells
  50. Olabisi OA, Zhang JY, VerPlank L, Zahler N, DiBartolo S, Heneghan JF, Schlöndorff JS, Suh JH, Yan P, Alper SL, Friedman DJ, Pollak MR. APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases. Proc Natl Acad Sci U S A. 2016 Jan 26; 113(4):830-7. PMID: 26699492.
    Citations: 88     Fields:    Translation:HumansCells
  51. Mukamal KJ, Tremaglio J, Friedman DJ, Ix JH, Kuller LH, Tracy RP, Pollak MR. APOL1 Genotype, Kidney and Cardiovascular Disease, and Death in Older Adults. Arterioscler Thromb Vasc Biol. 2016 Feb; 36(2):398-403. PMID: 26634651.
    Citations: 46     Fields:    Translation:Humans
  52. MacRae CA, Pollak MR. Effect Size Does Matter: The Long Road to Mechanistic Insight From Genome-Wide Association. Circulation. 2015 Nov 24; 132(21):1943-5. PMID: 26487758.
    Citations: 3     Fields:    Translation:HumansCells
  53. Feng D, DuMontier C, Pollak MR. The role of alpha-actinin-4 in human kidney disease. Cell Biosci. 2015; 5:44. PMID: 26301083.
    Citations: 23     
  54. Toka HR, Pollak MR, Houillier P. Calcium Sensing in the Renal Tubule. Physiology (Bethesda). 2015 Jul; 30(4):317-26. PMID: 26136545.
    Citations: 15     Fields:    Translation:HumansAnimalsCells
  55. Heneghan JF, Vandorpe DH, Shmukler BE, Giovinazzo JA, Giovinnazo JA, Raper J, Friedman DJ, Pollak MR, Alper SL. BH3 domain-independent apolipoprotein L1 toxicity rescued by BCL2 prosurvival proteins. Am J Physiol Cell Physiol. 2015 Sep 01; 309(5):C332-47. PMID: 26108665.
    Citations: 24     Fields:    Translation:HumansAnimalsCells
  56. Pollak MR. Modifiers of Cardiac Phenotypes. Circ Cardiovasc Genet. 2015 Jun; 8(3):425-6. PMID: 26082553.
    Citations:    Fields:    Translation:Humans
  57. Sampson MG, Pollak MR. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. Semin Nephrol. 2015 May; 35(3):212-21. PMID: 26215859.
    Citations: 10     Fields:    Translation:Humans
  58. Ruchi R, Genovese G, Lee J, Charoonratana VT, Bernhardy AJ, Alper SL, Kopp JB, Thadhani R, Friedman DJ, Pollak MR. Copy Number Variation at the APOL1 Locus. PLoS One. 2015; 10(5):e0125410. PMID: 25933006.
    Citations: 8     Fields:    Translation:Humans
  59. Ehrlicher AJ, Krishnan R, Guo M, Bidan CM, Weitz DA, Pollak MR. Alpha-actinin binding kinetics modulate cellular dynamics and force generation. Proc Natl Acad Sci U S A. 2015 May 26; 112(21):6619-24. PMID: 25918384.
    Citations: 40     Fields:    Translation:HumansCells
  60. Pollak MR. Idiopathic pediatric chronic kidney disease: can genomic technology crack the case? J Clin Invest. 2015 May; 125(5):1799-800. PMID: 25893596.
    Citations:    Fields:    Translation:HumansCells
  61. Kopp JB, Winkler CA, Zhao X, Radeva MK, Gassman JJ, D'Agati VD, Nast CC, Wei C, Reiser J, Guay-Woodford LM, Pollak MR, Hildebrandt F, Moxey-Mims M, Gipson DS, Trachtman H, Friedman AL, Kaskel FJ. Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial. J Am Soc Nephrol. 2015 Jun; 26(6):1443-8. PMID: 25573908.
    Citations: 63     Fields:    Translation:Humans
  62. Sun H, Al-Romaih KI, MacRae CA, Pollak MR. Human Kidney Disease-causing INF2 Mutations Perturb Rho/Dia Signaling in the Glomerulus. EBioMedicine. 2014 Dec; 1(2-3):107-15. PMID: 26086034.
    Citations: 17     Fields:    
  63. Pollak MR. Familial FSGS. Adv Chronic Kidney Dis. 2014 Sep; 21(5):422-5. PMID: 25168831.
    Citations: 24     Fields:    Translation:Humans
  64. Toka HR, Pollak MR. The role of the calcium-sensing receptor in disorders of abnormal calcium handling and cardiovascular disease. Curr Opin Nephrol Hypertens. 2014 Sep; 23(5):494-501. PMID: 24992569.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  65. Nichols B, Jog P, Lee JH, Blackler D, Wilmot M, D'Agati V, Markowitz G, Kopp JB, Alper SL, Pollak MR, Friedman DJ. Innate immunity pathways regulate the nephropathy gene Apolipoprotein L1. Kidney Int. 2015 Feb; 87(2):332-42. PMID: 25100047.
    Citations: 149     Fields:    Translation:HumansCells
  66. Ma L, Shelness GS, Snipes JA, Murea M, Antinozzi PA, Cheng D, Saleem MA, Satchell SC, Banas B, Mathieson PW, Kretzler M, Hemal AK, Rudel LL, Petrovic S, Weckerle A, Pollak MR, Ross MD, Parks JS, Freedman BI. Localization of APOL1 protein and mRNA in the human kidney: nondiseased tissue, primary cells, and immortalized cell lines. J Am Soc Nephrol. 2015 Feb; 26(2):339-48. PMID: 25012173.
    Citations: 82     Fields:    Translation:HumansCells
  67. Rotimi C, Abayomi A, Abimiku A, Adabayeri VM, Adebamowo C, Adebiyi E, Ademola AD, Adeyemo A, Adu D, Affolabi D, Agongo G, Ajayi S, Akarolo-Anthony S, Akinyemi R, Akpalu A, Alberts M, Alonso Betancourt O, Alzohairy AM, Ameni G, Amodu O, Anabwani G, Andersen K, Arogundade F, Arulogun O, Asogun D, Bakare R, Balde N, Baniecki ML, Beiswanger C, Benkahla A, Bethke L, Boehnke M, Boima V, Brandful J, Brooks AI, Brosius FC, Brown C, Bucheton B, Burke DT, Burnett BG, Carrington-Lawrence S, Carstens N, Chisi J, Christoffels A, Cooper R, Cordell H, Crowther N, Croxton T, de Vries J, Derr L, Donkor P, Doumbia S, Duncanson A, Ekem I, El Sayed A, Engel ME, Enyaru JC, Everett D, Fadlelmola FM, Fakunle E, Fischbeck KH, Fischer A, Folarin O, Gamieldien J, Garry RF, Gaseitsiwe S, Gbadegesin R, Ghansah A, Giovanni M, Goesbeck P, Gomez-Olive FX, Grant DS, Grewal R, Guyer M, Hanchard NA, Happi CT, Hazelhurst S, Hennig BJ, Hertz- C, Hide W, Hilderbrandt F, Hugo-Hamman C, Ibrahim ME, James R, Jaufeerally-Fakim Y, Jenkins C, Jentsch U, Jiang PP, Joloba M, Jongeneel V, Joubert F, Kader M, Kahn K, Kaleebu P, Kapiga SH, Kassim SK, Kasvosve I, Kayondo J, Keavney B, Kekitiinwa A, Khan SH, Kimmel P, King MC, Kleta R, Koffi M, Kopp J, Kretzler M, Kumuthini J, Kyobe S, Kyobutungi C, Lackland DT, Lacourciere KA, Landouré G, Lawlor R, Lehner T, Lesosky M, Levitt N, Littler K, Lombard Z, Loring JF, Lyantagaye S, Macleod A, Madden EB, Mahomva CR, Makani J, Mamven M, Marape M, Mardon G, Marshall P, Martin DP, Masiga D, Mason R, Mate-Kole M, Matovu E, Mayige M, Mayosi BM, Mbanya JC, McCurdy SA, McCarthy MI, McIlleron H, Mc'Ligeyo SO, Merle C, Mocumbi AO, Mondo C, Moran JV, Motala A, Moxey-Mims M, Mpoloka WS, Msefula CL, Mthiyane T, Mulder N, Mulugeta Gh, Mumba D, Musuku J, Nagdee M, Nash O, Ndiaye D, Nguyen AQ, Nicol M, Nkomazana O, Norris S, Nsangi B, Nyarko A, Nyirenda M, Obe E, Obiakor R, Oduro A, Ofori-Acquah SF, Ogah O, Ogendo S, Ohene-Frempong K, Ojo A, Olanrewaju T, Oli J, Osafo C, Ouwe Missi Oukem-Boyer O, Ovbiagele B, Owen A, Owolabi MO, Owolabi L, Owusu-Dabo E, Pare G, Parekh R, Patterton HG, Penno MB, Peterson J, Pieper R, Plange-Rhule J, Pollak M, Puzak J, Ramesar RS, Ramsay M, Rasooly R, Reddy S, Sabeti PC, Sagoe K, Salako T, Samassékou O, Sandhu MS, Sankoh O, Sarfo FS, Sarr M, Shaboodien G, Sidibe I, Simo G, Simuunza M, Smeeth L, Sobngwi E, Soodyall H, Sorgho H, Sow Bah O, Srinivasan S, Stein DJ, Susser ES, Swanepoel C, Tangwa G, Tareila A, Tastan Bishop O, Tayo B, Tiffin N, Tinto H, Tobin E, Tollman SM, Traoré M, Treadwell MJ, Troyer J, Tsimako-Johnstone M, Tukei V, Ulasi I, Ulenga N, van Rooyen B, Wachinou AP, Waddy SP, Wade A, Wayengera M, Whitworth J, Wideroff L, Winkler CA, Winnicki S, Wonkam A, Yewondwos M, sen T, Yozwiak N, Zar H. Research capacity. Enabling the genomic revolution in Africa. Science. 2014 Jun 20; 344(6190):1346-8. PMID: 24948725.
    Citations: 169     Fields:    Translation:Humans
  68. Grgic I, Hofmeister AF, Genovese G, Bernhardy AJ, Sun H, Maarouf OH, Bijol V, Pollak MR, Humphreys BD. Discovery of new glomerular disease-relevant genes by translational profiling of podocytes in vivo. Kidney Int. 2014 Dec; 86(6):1116-29. PMID: 24940801.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  69. Pollak MR, Quaggin SE, Hoenig MP, Dworkin LD. The glomerulus: the sphere of influence. Clin J Am Soc Nephrol. 2014 Aug 07; 9(8):1461-9. PMID: 24875196.
    Citations: 35     Fields:    Translation:HumansAnimals
  70. Thomson R, Genovese G, Canon C, Kovacsics D, Higgins MK, Carrington M, Winkler CA, Kopp J, Rotimi C, Adeyemo A, Doumatey A, Ayodo G, Alper SL, Pollak MR, Friedman DJ, Raper J. Evolution of the primate trypanolytic factor APOL1. Proc Natl Acad Sci U S A. 2014 May 20; 111(20):E2130-9. PMID: 24808134.
    Citations: 114     Fields:    Translation:HumansAnimals
  71. Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P, Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R, Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS, Schiffer M, Winn MP. Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS. J Am Soc Nephrol. 2014 Sep; 25(9):1991-2002. PMID: 24676636.
    Citations: 73     Fields:    Translation:HumansAnimalsCells
  72. Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR. Mutations in PAX2 associate with adult-onset FSGS. J Am Soc Nephrol. 2014 Sep; 25(9):1942-53. PMID: 24676634.
    Citations: 44     Fields:    Translation:HumansCells
  73. Brown EJ, Pollak MR, Barua M. Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing. Kidney Int. 2014 May; 85(5):1030-8. PMID: 24599252.
    Citations: 28     Fields:    Translation:Humans
  74. Ito K, Bick AG, Flannick J, Friedman DJ, Genovese G, Parfenov MG, Depalma SR, Gupta N, Gabriel SB, Taylor HA, Fox ER, Newton-Cheh C, Kathiresan S, Hirschhorn JN, Altshuler DM, Pollak MR, Wilson JG, Seidman JG, Seidman C. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circ Res. 2014 Feb 28; 114(5):845-50. PMID: 24379297.
    Citations: 90     Fields:    Translation:Humans
  75. Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Böckenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 Dec; 123(12):5179-89. PMID: 24270420.
    Citations: 153     Fields:    Translation:HumansAnimalsCells
  76. Bruggeman LA, O'Toole JF, Ross MD, Madhavan SM, Smurzynski M, Wu K, Bosch RJ, Gupta S, Pollak MR, Sedor JR, Kalayjian RC. Plasma apolipoprotein L1 levels do not correlate with CKD. J Am Soc Nephrol. 2014 Mar; 25(3):634-44. PMID: 24231663.
    Citations: 52     Fields:    Translation:Humans
  77. Williams WW, Pollak MR. Health disparities in kidney disease--emerging data from the human genome. N Engl J Med. 2013 Dec 05; 369(23):2260-1. PMID: 24206461.
    Citations: 9     Fields:    Translation:Humans
  78. Barua M, Shieh E, Schlondorff J, Genovese G, Kaplan BS, Pollak MR. Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis. Kidney Int. 2014 Jan; 85(1):124-33. PMID: 24048372.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  79. Toka HR, Genovese G, Mount DB, Pollak MR, Curhan GC. Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion. PLoS One. 2013; 8(8):e71885. PMID: 23991001.
    Citations: 13     Fields:    Translation:Humans
  80. Toka HR, Yang J, Zera CA, Duffield JS, Pollak MR, Mount DB. Pregnancy-associated polyuria in familial renal glycosuria. Am J Kidney Dis. 2013 Dec; 62(6):1160-4. PMID: 23871407.
    Citations: 1     Fields:    Translation:Humans
  81. Romero JR, Youte R, Brown EM, Pollak MR, Goltzman D, Karaplis A, Pong LC, Chien L, Chattopadhyay N, Rivera A. Parathyroid hormone ablation alters erythrocyte parameters that are rescued by calcium-sensing receptor gene deletion. Eur J Haematol. 2013 Jul; 91(1):37-45. PMID: 23528155.
    Citations: 1     Fields:    Translation:AnimalsCells
  82. Sun H, Schlondorff J, Higgs HN, Pollak MR. Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling. J Am Soc Nephrol. 2013 May; 24(6):917-29. PMID: 23620398.
    Citations: 26     Fields:    Translation:HumansCells
  83. Genovese G, Friedman DJ, Pollak MR. APOL1 variants and kidney disease in people of recent African ancestry. Nat Rev Nephrol. 2013 04; 9(4):240-4. PMID: 23438974.
    Citations: 53     Fields:    Translation:Humans
  84. Genovese G, Handsaker RE, Li H, Altemose N, Lindgren AM, Chambert K, Pasaniuc B, Price AL, Reich D, Morton CC, Pollak MR, Wilson JG, McCarroll SA. Using population admixture to help complete maps of the human genome. Nat Genet. 2013 Apr; 45(4):406-14, 414e1-2. PMID: 23435088.
    Citations: 40     Fields:    Translation:HumansCells
  85. Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013 Mar; 45(3):299-303. PMID: 23396133.
    Citations: 103     Fields:    Translation:HumansCells
  86. Quinn SJ, Thomsen AR, Egbuna O, Pang J, Baxi K, Goltzman D, Pollak M, Brown EM. CaSR-mediated interactions between calcium and magnesium homeostasis in mice. Am J Physiol Endocrinol Metab. 2013 Apr 01; 304(7):E724-33. PMID: 23360827.
    Citations: 9     Fields:    Translation:Animals
  87. Yao NY, Broedersz CP, Depken M, Becker DJ, Pollak MR, Mackintosh FC, Weitz DA. Stress-enhanced gelation: a dynamic nonlinearity of elasticity. Phys Rev Lett. 2013 Jan 04; 110(1):018103. PMID: 23383843.
    Citations: 14     Fields:    Translation:Humans
  88. Quinn SJ, Thomsen AR, Pang JL, Kantham L, Bräuner-Osborne H, Pollak M, Goltzman D, Brown EM. Interactions between calcium and phosphorus in the regulation of the production of fibroblast growth factor 23 in vivo. Am J Physiol Endocrinol Metab. 2013 Feb 01; 304(3):E310-20. PMID: 23233539.
    Citations: 38     Fields:    Translation:Animals
  89. Carrasquillo R, Tian D, Krishna S, Pollak MR, Greka A, Schlöndorff J. SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity. BMC Cell Biol. 2012 Nov 21; 13:33. PMID: 23171048.
    Citations: 3     Fields:    Translation:HumansCells
  90. Barua M, Brown EJ, Charoonratana VT, Genovese G, Sun H, Pollak MR. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. Kidney Int. 2013 Feb; 83(2):316-22. PMID: 23014460.
    Citations: 50     Fields:    Translation:HumansCells
  91. Toka HR, Al-Romaih K, Koshy JM, DiBartolo S, Kos CH, Quinn SJ, Curhan GC, Mount DB, Brown EM, Pollak MR. Deficiency of the calcium-sensing receptor in the kidney causes parathyroid hormone-independent hypocalciuria. J Am Soc Nephrol. 2012 Nov; 23(11):1879-90. PMID: 22997254.
    Citations: 46     Fields:    Translation:AnimalsCells
  92. Lee BT, Kumar V, Williams TA, Abdi R, Bernhardy A, Dyer C, Conte S, Genovese G, Ross MD, Friedman DJ, Gaston R, Milford E, Pollak MR, Chandraker A. The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival. Am J Transplant. 2012 Jul; 12(7):1924-8. PMID: 22487534.
    Citations: 89     Fields:    Translation:Humans
  93. Pollak MR, Genovese G, Friedman DJ. APOL1 and kidney disease. Curr Opin Nephrol Hypertens. 2012 Mar; 21(2):179-82. PMID: 22257798.
    Citations: 28     Fields:    Translation:Humans
  94. Xue Y, Xiao Y, Liu J, Karaplis AC, Pollak MR, Brown EM, Miao D, Goltzman D. The calcium-sensing receptor complements parathyroid hormone-induced bone turnover in discrete skeletal compartments in mice. Am J Physiol Endocrinol Metab. 2012 Apr 01; 302(7):E841-51. PMID: 22275754.
    Citations: 15     Fields:    Translation:AnimalsCells
  95. Boucher I, Yu W, Beaudry S, Negoro H, Tran M, Pollak MR, Henderson JM, Denker BM. Ga12 activation in podocytes leads to cumulative changes in glomerular collagen expression, proteinuria and glomerulosclerosis. Lab Invest. 2012 May; 92(5):662-75. PMID: 22249312.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  96. Friedman DJ, Kozlitina J, Genovese G, Jog P, Pollak MR. Population-based risk assessment of APOL1 on renal disease. J Am Soc Nephrol. 2011 Nov; 22(11):2098-105. PMID: 21997396.
    Citations: 120     Fields:    Translation:Humans
  97. Kopp JB, Nelson GW, Sampath K, Johnson RC, Genovese G, An P, Friedman D, Briggs W, Dart R, Korbet S, Mokrzycki MH, Kimmel PL, Limou S, Ahuja TS, Berns JS, Fryc J, Simon EE, Smith MC, Trachtman H, Michel DM, Schelling JR, Vlahov D, Pollak M, Winkler CA. APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy. J Am Soc Nephrol. 2011 Nov; 22(11):2129-37. PMID: 21997394.
    Citations: 380     Fields:    Translation:Humans
  98. Kanji Z, Powe CE, Wenger JB, Huang C, Ankers E, Sullivan DA, Collerone G, Powe NR, Tonelli M, Bhan I, Bernhardy AJ, Dibartolo S, Friedman D, Genovese G, Pollak MR, Thadhani R. Genetic variation in APOL1 associates with younger age at hemodialysis initiation. J Am Soc Nephrol. 2011 Nov; 22(11):2091-7. PMID: 21997398.
    Citations: 53     Fields:    Translation:Humans
  99. Akilesh S, Suleiman H, Yu H, Stander MC, Lavin P, Gbadegesin R, Antignac C, Pollak M, Kopp JB, Winn MP, Shaw AS. Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest. 2011 Oct; 121(10):4127-37. PMID: 21911940.
    Citations: 140     Fields:    Translation:HumansAnimalsCells
  100. Friedman DJ, Pollak MR. Genetics of kidney failure and the evolving story of APOL1. J Clin Invest. 2011 Sep; 121(9):3367-74. PMID: 21881214.
    Citations: 56     Fields:    Translation:Humans
  101. Shankland SJ, Pollak MR. A suPAR circulating factor causes kidney disease. Nat Med. 2011 Aug 04; 17(8):926-7. PMID: 21818086.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  102. Yao NY, Becker DJ, Broedersz CP, Depken M, Mackintosh FC, Pollak MR, Weitz DA. Nonlinear viscoelasticity of actin transiently cross-linked with mutant a-actinin-4. J Mol Biol. 2011 Sep 02; 411(5):1062-71. PMID: 21762701.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  103. Al-Romaih KI, Genovese G, Al-Mojalli H, Al-Othman S, Al-Manea H, Al-Suleiman M, Al-Jondubi M, Atallah N, Al-Rodayyan M, Weins A, Pollak MR, Adra CN. Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing. Am J Kidney Dis. 2011 Aug; 58(2):186-95. PMID: 21658830.
    Citations: 9     Fields:    Translation:Humans
  104. Shu L, Ji J, Zhu Q, Cao G, Karaplis A, Pollak MR, Brown E, Goltzman D, Miao D. The calcium-sensing receptor mediates bone turnover induced by dietary calcium and parathyroid hormone in neonates. J Bone Miner Res. 2011 May; 26(5):1057-71. PMID: 21542007.
    Citations: 19     Fields:    Translation:AnimalsCells
  105. Liakopoulos V, Huerta A, Cohen S, Pollak MR, Sirota RA, Superdock K, Appel GB. Familial collapsing focal segmental glomerulosclerosis. Clin Nephrol. 2011 Apr; 75(4):362-8. PMID: 21426891.
    Citations: 11     Fields:    Translation:Humans
  106. Sun H, Schlondorff JS, Brown EJ, Higgs HN, Pollak MR. Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2). Proc Natl Acad Sci U S A. 2011 Feb 15; 108(7):2933-8. PMID: 21278336.
    Citations: 42     Fields:    Translation:HumansAnimalsCells
  107. Wyss HM, Henderson JM, Byfield FJ, Bruggeman LA, Ding Y, Huang C, Suh JH, Franke T, Mele E, Pollak MR, Miner JH, Janmey PA, Weitz DA, Miller RT. Biophysical properties of normal and diseased renal glomeruli. Am J Physiol Cell Physiol. 2011 Mar; 300(3):C397-405. PMID: 21123730.
    Citations: 41     Fields:    Translation:AnimalsCells
  108. Broedersz CP, Depken M, Yao NY, Pollak MR, Weitz DA, MacKintosh FC. Cross-link-governed dynamics of biopolymer networks. Phys Rev Lett. 2010 Dec 03; 105(23):238101. PMID: 21231506.
    Citations: 29     Fields:    
  109. Shao H, Wang JH, Pollak MR, Wells A. a-actinin-4 is essential for maintaining the spreading, motility and contractility of fibroblasts. PLoS One. 2010 Nov 11; 5(11):e13921. PMID: 21085685.
    Citations: 49     Fields:    Translation:AnimalsCells
  110. Gu C, Yaddanapudi S, Weins A, Osborn T, Reiser J, Pollak M, Hartwig J, Sever S. Direct dynamin-actin interactions regulate the actin cytoskeleton. EMBO J. 2010 Nov 03; 29(21):3593-606. PMID: 20935625.
    Citations: 114     Fields:    Translation:HumansAnimalsCells
  111. Feng J, Petersen CD, Coy DH, Jiang JK, Thomas CJ, Pollak MR, Wank SA. Calcium-sensing receptor is a physiologic multimodal chemosensor regulating gastric G-cell growth and gastrin secretion. Proc Natl Acad Sci U S A. 2010 Oct 12; 107(41):17791-6. PMID: 20876097.
    Citations: 41     Fields:    Translation:AnimalsCells
  112. Parikh SM, Pollak MR. VEGF receptors and glomerular function. J Am Soc Nephrol. 2010 Oct; 21(10):1599-600. PMID: 20847145.
    Citations:    Fields:    Translation:AnimalsCells
  113. Schachter ME, Monahan M, Radhakrishnan J, Crew J, Pollak M, Ratner L, Valeri AM, Stokes MB, Appel GB. Recurrent focal segmental glomerulosclerosis in the renal allograft: single center experience in the era of modern immunosuppression. Clin Nephrol. 2010 Sep; 74(3):173-81. PMID: 20860901.
    Citations: 15     Fields:    Translation:Humans
  114. Thomas JA, Antonelli JA, Lloyd JC, Masko EM, Poulton SH, Phillips TE, Pollak M, Freedland SJ. Effect of intermittent fasting on prostate cancer tumor growth in a mouse model. Prostate Cancer Prostatic Dis. 2010 Dec; 13(4):350-5. PMID: 20733612.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  115. Freedman BI, Kopp JB, Langefeld CD, Genovese G, Friedman DJ, Nelson GW, Winkler CA, Bowden DW, Pollak MR. The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans. J Am Soc Nephrol. 2010 Sep; 21(9):1422-6. PMID: 20688934.
    Citations: 141     Fields:    Translation:HumansAnimals
  116. Genovese G, Tonna SJ, Knob AU, Appel GB, Katz A, Bernhardy AJ, Needham AW, Lazarus R, Pollak MR. A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9. Kidney Int. 2010 Oct; 78(7):698-704. PMID: 20668430.
    Citations: 77     Fields:    Translation:Humans
  117. Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010 Aug 13; 329(5993):841-5. PMID: 20647424.
    Citations: 876     Fields:    Translation:HumansAnimals
  118. Pollak MR. Genetics and genetic testing in kidney disease: introduction. Semin Nephrol. 2010 Jul; 30(4):355. PMID: 20807607.
    Citations:    Fields:    Translation:Humans
  119. Genovese G, Leibon G, Pollak MR, Rockmore DN. Improved IBD detection using incomplete haplotype information. BMC Genet. 2010 Jun 30; 11:58. PMID: 20591167.
    Citations: 7     Fields:    Translation:Humans
  120. Rhee EP, Souza A, Farrell L, Pollak MR, Lewis GD, Steele DJ, Thadhani R, Clish CB, Greka A, Gerszten RE. Metabolite profiling identifies markers of uremia. J Am Soc Nephrol. 2010 Jun; 21(6):1041-1051. PMID: 20378825.
    Citations: 92     Fields:    Translation:Humans
  121. Pollak M, Russell-Jones D. Insulin analogues and cancer risk: cause for concern or cause célèbre? Int J Clin Pract. 2010 Apr; 64(5):628-36. PMID: 20201993.
    Citations: 18     Fields:    Translation:Humans
  122. Sun W, Sun W, Liu J, Zhou X, Xiao Y, Karaplis A, Pollak MR, Brown E, Goltzman D, Miao D. Alterations in phosphorus, calcium and PTHrP contribute to defects in dental and dental alveolar bone formation in calcium-sensing receptor-deficient mice. Development. 2010 Mar; 137(6):985-92. PMID: 20150282.
    Citations: 15     Fields:    Translation:AnimalsCells
  123. Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2010 Jan; 42(1):72-6. PMID: 20023659.
    Citations: 222     Fields:    Translation:HumansCells
  124. Pollak MR. Expanding the spectrum of NPHS1-associated disease. Kidney Int. 2009 Dec; 76(12):1221-3. PMID: 19946311.
    Citations: 1     Fields:    Translation:Humans
  125. Kantham L, Quinn SJ, Egbuna OI, Baxi K, Butters R, Pang JL, Pollak MR, Goltzman D, Brown EM. The calcium-sensing receptor (CaSR) defends against hypercalcemia independently of its regulation of parathyroid hormone secretion. Am J Physiol Endocrinol Metab. 2009 Oct; 297(4):E915-23. PMID: 19797241.
    Citations: 54     Fields:    Translation:Animals
  126. Pollak MR. Surprising results following conditional podocyte inactivation. J Am Soc Nephrol. 2009 Oct; 20(10):2086-8. PMID: 19762489.
    Citations: 1     Fields:    Translation:AnimalsCells
  127. Egbuna O, Quinn S, Kantham L, Butters R, Pang J, Pollak M, Goltzman D, Brown E. The full-length calcium-sensing receptor dampens the calcemic response to 1alpha,25(OH)2 vitamin D3 in vivo independently of parathyroid hormone. Am J Physiol Renal Physiol. 2009 Sep; 297(3):F720-8. PMID: 19474191.
    Citations: 12     Fields:    Translation:Animals
  128. Henderson JM, Alexander MP, Pollak MR. Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury. J Am Soc Nephrol. 2009 May; 20(5):961-8. PMID: 19357256.
    Citations: 25     Fields:    Translation:HumansCells
  129. Schlöndorff J, Del Camino D, Carrasquillo R, Lacey V, Pollak MR. TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription. Am J Physiol Cell Physiol. 2009 Mar; 296(3):C558-69. PMID: 19129465.
    Citations: 72     Fields:    Translation:HumansCells
  130. Pollak MR. Kidney disease and African ancestry. Nat Genet. 2008 Oct; 40(10):1145-6. PMID: 18818713.
    Citations: 4     Fields:    Translation:HumansCells
  131. Tonna SJ, Needham A, Polu K, Uscinski A, Appel GB, Falk RJ, Katz A, Al-Waheeb S, Kaplan BS, Jerums G, Savige J, Harmon J, Zhang K, Curhan GC, Pollak MR. NPHS2 variation in focal and segmental glomerulosclerosis. BMC Nephrol. 2008 Sep 29; 9:13. PMID: 18823551.
    Citations: 24     Fields:    Translation:Humans
  132. Ward SM, Weins A, Pollak MR, Weitz DA. Dynamic viscoelasticity of actin cross-linked with wild-type and disease-causing mutant alpha-actinin-4. Biophys J. 2008 Nov 15; 95(10):4915-23. PMID: 18689451.
    Citations: 27     Fields:    Translation:HumansAnimalsCells
  133. Forman JP, Fisher ND, Pollak MR, Cox DG, Tonna S, Curhan GC. Renin-angiotensin system polymorphisms and risk of hypertension: influence of environmental factors. J Clin Hypertens (Greenwich). 2008 Jun; 10(6):459-66. PMID: 18550936.
    Citations: 4     Fields:    Translation:Humans
  134. Leibon G, Rockmore DN, Pollak MR. A SNP streak model for the identification of genetic regions identical-by-descent. Stat Appl Genet Mol Biol. 2008; 7(1):Article16. PMID: 18518857.
    Citations: 20     Fields:    Translation:Humans
  135. Tong Z, Yang Z, Patel S, Chen H, Gibbs D, Yang X, Hau VS, Kaminoh Y, Harmon J, Pearson E, Buehler J, Chen Y, Yu B, Tinkham NH, Zabriskie NA, Zeng J, Luo L, Sun JK, Prakash M, Hamam RN, Tonna S, Constantine R, Ronquillo CC, Sadda S, Avery RL, Brand JM, London N, Anduze AL, King GL, Bernstein PS, Watkins S, Jorde LB, Li DY, Aiello LP, Pollak MR, Zhang K. Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A. 2008 May 13; 105(19):6998-7003. PMID: 18458324.
    Citations: 77     Fields:    Translation:HumansAnimalsCells
  136. Pollak MR. Focal segmental glomerulosclerosis: recent advances. Curr Opin Nephrol Hypertens. 2008 Mar; 17(2):138-42. PMID: 18277145.
    Citations: 19     Fields:    Translation:HumansAnimalsCells
  137. Henderson JM, Al-Waheeb S, Weins A, Dandapani SV, Pollak MR. Mice with altered alpha-actinin-4 expression have distinct morphologic patterns of glomerular disease. Kidney Int. 2008 Mar; 73(6):741-50. PMID: 18185509.
    Citations: 19     Fields:    Translation:HumansAnimals
  138. Lee SH, Weins A, Hayes DB, Pollak MR, Dominguez R. Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. J Mol Biol. 2008 Feb 15; 376(2):317-24. PMID: 18164029.
    Citations: 17     Fields:    Translation:HumansCells
  139. Tonna S, Dandapani SV, Uscinski A, Appel GB, Schlöndorff JS, Zhang K, Denker BM, Pollak MR. Functional genetic variation in aminopeptidase A (ENPEP): lack of clear association with focal and segmental glomerulosclerosis (FSGS). Gene. 2008 Feb 29; 410(1):44-52. PMID: 18206321.
    Citations: 2     Fields:    Translation:Humans
  140. Mistry K, Ireland JH, Ng RC, Henderson JM, Pollak MR. Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. Am J Kidney Dis. 2007 Nov; 50(5):855-64. PMID: 17954299.
    Citations: 10     Fields:    Translation:Humans
  141. Pollak MR, Alexander MP, Henderson JM. A case of familial kidney disease. Clin J Am Soc Nephrol. 2007 Nov; 2(6):1367-74. PMID: 17942774.
    Citations: 9     Fields:    Translation:Humans
  142. Weins A, Schlondorff JS, Nakamura F, Denker BM, Hartwig JH, Stossel TP, Pollak MR. Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity. Proc Natl Acad Sci U S A. 2007 Oct 09; 104(41):16080-5. PMID: 17901210.
    Citations: 63     Fields:    Translation:HumansAnimalsCells
  143. Copelovitch L, Guttenberg M, Pollak MR, Kaplan BS. Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS. Pediatr Nephrol. 2007 Oct; 22(10):1779-84. PMID: 17530296.
    Citations: 10     Fields:    Translation:Humans
  144. Schlöndorff JS, Pollak MR. TRPC6 in glomerular health and disease: what we know and what we believe. Semin Cell Dev Biol. 2006 Dec; 17(6):667-74. PMID: 17116414.
    Citations: 16     Fields:    Translation:HumansAnimals
  145. Dandapani SV, Sugimoto H, Matthews BD, Kolb RJ, Sinha S, Gerszten RE, Zhou J, Ingber DE, Kalluri R, Pollak MR. Alpha-actinin-4 is required for normal podocyte adhesion. J Biol Chem. 2007 Jan 05; 282(1):467-77. PMID: 17082197.
    Citations: 56     Fields:    Translation:AnimalsCells
  146. Chattopadhyay N, Jeong KH, Yano S, Huang S, Pang JL, Ren X, Terwilliger E, Kaiser UB, Vassilev PM, Pollak MR, Brown EM. Calcium receptor stimulates chemotaxis and secretion of MCP-1 in GnRH neurons in vitro: potential impact on reduced GnRH neuron population in CaR-null mice. Am J Physiol Endocrinol Metab. 2007 Feb; 292(2):E523-32. PMID: 17003237.
    Citations: 12     Fields:    Translation:AnimalsCells
  147. Dandapani SV, Pollak MR. The glomerular filter: Biologic and genetic complexity. Kidney Int. 2006 Sep; 70(6):980-2. PMID: 16957744.
    Citations: 1     Fields:    Translation:HumansCells
  148. Möller CC, Pollak MR, Reiser J. The genetic basis of human glomerular disease. Adv Chronic Kidney Dis. 2006 Apr; 13(2):166-73. PMID: 16580618.
    Citations: 12     Fields:    Translation:HumansCells
  149. Adams GB, Chabner KT, Alley IR, Olson DP, Szczepiorkowski ZM, Poznansky MC, Kos CH, Pollak MR, Brown EM, Scadden DT. Stem cell engraftment at the endosteal niche is specified by the calcium-sensing receptor. Nature. 2006 Feb 02; 439(7076):599-603. PMID: 16382241.
    Citations: 257     Fields:    Translation:AnimalsCells
  150. Weins A, Kenlan P, Herbert S, Le TC, Villegas I, Kaplan BS, Appel GB, Pollak MR. Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis. J Am Soc Nephrol. 2005 Dec; 16(12):3694-701. PMID: 16251236.
    Citations: 65     Fields:    Translation:Humans
  151. Reiser J, Polu KR, Möller CC, Kenlan P, Altintas MM, Wei C, Faul C, Herbert S, Villegas I, Avila-Casado C, McGee M, Sugimoto H, Brown D, Kalluri R, Mundel P, Smith PL, Clapham DE, Pollak MR. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat Genet. 2005 Jul; 37(7):739-44. PMID: 15924139.
    Citations: 337     Fields:    Translation:HumansCells
  152. Hunt JL, Pollak MR, Denker BM. Cultured podocytes establish a size-selective barrier regulated by specific signaling pathways and demonstrate synchronized barrier assembly in a calcium switch model of junction formation. J Am Soc Nephrol. 2005 Jun; 16(6):1593-602. PMID: 15843471.
    Citations: 16     Fields:    Translation:AnimalsCells
  153. Leykin I, Hao K, Cheng J, Meyer N, Pollak MR, Smith RJ, Wong WH, Rosenow C, Li C. Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data. BMC Genet. 2005 Feb 15; 6:7. PMID: 15713228.
    Citations: 12     Fields:    Translation:Humans
  154. Ellinor PT, Moore RK, Patton KK, Ruskin JN, Pollak MR, Macrae CA. Mutations in the long QT gene, KCNQ1, are an uncommon cause of atrial fibrillation. Heart. 2004 Dec; 90(12):1487-8. PMID: 15547041.
    Citations: 26     Fields:    Translation:HumansCells
  155. Yao J, Le TC, Kos CH, Henderson JM, Allen PG, Denker BM, Pollak MR. Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. PLoS Biol. 2004 Jun; 2(6):e167. PMID: 15208719.
    Citations: 53     Fields:    Translation:HumansAnimalsCells
  156. Pereira AC, Pereira AB, Mota GF, Cunha RS, Herkenhoff FL, Pollak MR, Mill JG, Krieger JE. NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. Kidney Int. 2004 Mar; 65(3):1026-30. PMID: 14871423.
    Citations: 36     Fields:    Translation:Humans
  157. Kos CH, Le TC, Sinha S, Henderson JM, Kim SH, Sugimoto H, Kalluri R, Gerszten RE, Pollak MR. Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest. 2003 Jun; 111(11):1683-90. PMID: 12782671.
    Citations: 82     Fields:    Translation:AnimalsCells
  158. Kos CH, Karaplis AC, Peng JB, Hediger MA, Goltzman D, Mohammad KS, Guise TA, Pollak MR. The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone. J Clin Invest. 2003 Apr; 111(7):1021-8. PMID: 12671051.
    Citations: 57     Fields: