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Martin Russell Pollak, M.D.

TitleProfessor of Medicine
InstitutionBeth Israel Deaconess Medical Center
DepartmentMedicine
AddressBeth Israel Deaconess Medical Center
Farr 8
330 Brookline Ave
Boston MA 02215
Phone617/667-0496
Fax617/975-5841

 Overview 
 overview
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.


 Mentoring 
 current student opportunities
Available: 07/01/11, Expires: 06/01/15

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.

 completed student projects
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

 Bibliographic 
 selected publications
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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  1. 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 2; 123(12):5179-89.
    View in: PubMed
  2. Williams WW, Pollak MR. Health disparities in kidney disease--emerging data from the human genome. N Engl J Med. 2013 Dec 5; 369(23):2260-1.
    View in: PubMed
  3. 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.
    View in: PubMed
  4. 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.
    View in: PubMed
  5. 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.
    View in: PubMed
  6. 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.
    View in: PubMed
  7. 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.
    View in: PubMed
  8. 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.
    View in: PubMed
  9. Genovese G, Friedman DJ, Pollak MR. APOL1 variants and kidney disease in people of recent African ancestry. Nat Rev Nephrol. 2013 Feb 12; 9(4):240-4.
    View in: PubMed
  10. 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.
    View in: PubMed
  11. 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; 304(7):E724-33.
    View in: PubMed
  12. 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 4; 110(1):018103.
    View in: PubMed
  13. 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; 304(3):E310-20.
    View in: PubMed
  14. 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; 13:33.
    View in: PubMed
  15. 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.
    View in: PubMed
  16. 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.
    View in: PubMed
  17. 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.
    View in: PubMed
  18. Pollak MR, Genovese G, Friedman DJ. APOL1 and kidney disease. Curr Opin Nephrol Hypertens. 2012 Mar; 21(2):179-82.
    View in: PubMed
  19. 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 1; 302(7):E841-51.
    View in: PubMed
  20. 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.
    View in: PubMed
  21. 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.
    View in: PubMed
  22. 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.
    View in: PubMed
  23. 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.
    View in: PubMed
  24. 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.
    View in: PubMed
  25. Friedman DJ, Pollak MR. Genetics of kidney failure and the evolving story of APOL1. J Clin Invest. 2011 Sep; 121(9):3367-74.
    View in: PubMed
  26. Shankland SJ, Pollak MR. A suPAR circulating factor causes kidney disease. Nat Med. 2011 Aug; 17(8):926-7.
    View in: PubMed
  27. 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 2; 411(5):1062-71.
    View in: PubMed
  28. 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.
    View in: PubMed
  29. Suissa S, Azoulay L, Dell'Aniello S, Evans M, Vora J, Pollak M. Long-term effects of insulin glargine on the risk of breast cancer. Diabetologia. 2011 Sep; 54(9):2254-62.
    View in: PubMed
  30. 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.
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  31. 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.
    View in: PubMed
  32. 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.
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  33. 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.
    View in: PubMed
  34. Broedersz CP, Depken M, Yao NY, Pollak MR, Weitz DA, MacKintosh FC. Cross-link-governed dynamics of biopolymer networks. Phys Rev Lett. 2010 Dec 3; 105(23):238101.
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  35. 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; 5(11):e13921.
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  36. 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 3; 29(21):3593-606.
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  37. 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.
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  38. Parikh SM, Pollak MR. VEGF receptors and glomerular function. J Am Soc Nephrol. 2010 Oct; 21(10):1599-600.
    View in: PubMed
  39. 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.
    View in: PubMed
  40. 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.
    View in: PubMed
  41. 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.
    View in: PubMed
  42. 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.
    View in: PubMed
  43. Pollak MR. Genetics and genetic testing in kidney disease: introduction. Semin Nephrol. 2010 Jul; 30(4):355.
    View in: PubMed
  44. Genovese G, Leibon G, Pollak MR, Rockmore DN. Improved IBD detection using incomplete haplotype information. BMC Genet. 2010; 11:58.
    View in: PubMed
  45. 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.
    View in: PubMed
  46. 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.
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  47. 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.
    View in: PubMed
  48. Pollak MR. Expanding the spectrum of NPHS1-associated disease. Kidney Int. 2009 Dec; 76(12):1221-3.
    View in: PubMed
  49. 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.
    View in: PubMed
  50. Pollak MR. Surprising results following conditional podocyte inactivation. J Am Soc Nephrol. 2009 Oct; 20(10):2086-8.
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  51. 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.
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  52. 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.
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  53. 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.
    View in: PubMed
  54. Pollak MR. Kidney disease and African ancestry. Nat Genet. 2008 Oct; 40(10):1145-6.
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  55. 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; 9:13.
    View in: PubMed
  56. 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.
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  57. 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.
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  58. 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.
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  59. 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.
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  60. Pollak MR. Focal segmental glomerulosclerosis: recent advances. Curr Opin Nephrol Hypertens. 2008 Mar; 17(2):138-42.
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  61. 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.
    View in: PubMed
  62. 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.
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  63. 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.
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  64. 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.
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  65. Pollak MR, Alexander MP, Henderson JM. A case of familial kidney disease. Clin J Am Soc Nephrol. 2007 Nov; 2(6):1367-74.
    View in: PubMed
  66. 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 9; 104(41):16080-5.
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  67. 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.
    View in: PubMed
  68. 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.
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  69. 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 5; 282(1):467-77.
    View in: PubMed
  70. 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.
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  71. Dandapani SV, Pollak MR. The glomerular filter: Biologic and genetic complexity. Kidney Int. 2006 Sep; 70(6):980-2.
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  72. Möller CC, Pollak MR, Reiser J. The genetic basis of human glomerular disease. Adv Chronic Kidney Dis. 2006 Apr; 13(2):166-73.
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  73. 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 2; 439(7076):599-603.
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  74. 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.
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  75. 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.
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  76. 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.
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  77. 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; 6:7.
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  78. 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.
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  79. 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.
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  80. 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.
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  81. 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.
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  82. 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.
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  83. Pollak MR. The genetic basis of FSGS and steroid-resistant nephrosis. Semin Nephrol. 2003 Mar; 23(2):141-6.
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  84. Pollak MR. Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint. J Am Soc Nephrol. 2002 Dec; 13(12):3016-23.
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  85. Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollak MR. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest. 2002 Dec; 110(11):1659-66.
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  86. Kaplan J, Pollak MR. Familial focal segmental glomerulosclerosis. Curr Opin Nephrol Hypertens. 2001 Mar; 10(2):183-7.
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  87. Tsukaguchi H, Yager H, Dawborn J, Jost L, Cohlmia J, Abreu PF, Pereira AB, Pollak MR. A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. J Am Soc Nephrol. 2000 Sep; 11(9):1674-80.
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  88. Olszak IT, Poznansky MC, Evans RH, Olson D, Kos C, Pollak MR, Brown EM, Scadden DT. Extracellular calcium elicits a chemokinetic response from monocytes in vitro and in vivo. J Clin Invest. 2000 May; 105(9):1299-305.
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  89. Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodríguez-Pérez JC, Allen PG, Beggs AH, Pollak MR. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet. 2000 Mar; 24(3):251-6.
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  90. Gherman RB, Bowen E, Eggleston MK, Teague KE, Sayles T, Brown EM, Pollak MR. Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report. J Reprod Med. 1999 Aug; 44(8):745-7.
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  91. Huynh H, Pollak M, Zhang JC. Regulation of insulin-like growth factor (IGF) II and IGF binding protein 3 autocrine loop in human PC-3 prostate cancer cells by vitamin D metabolite 1,25(OH)2D3 and its analog EB1089. Int J Oncol. 1998 Jul; 13(1):137-43.
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  92. Mathis BJ, Kim SH, Calabrese K, Haas M, Seidman JG, Seidman CE, Pollak MR. A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13. Kidney Int. 1998 Feb; 53(2):282-6.
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  93. Brown EM, Pollak M, Hebert SC. The extracellular calcium-sensing receptor: its role in health and disease. Annu Rev Med. 1998; 49:15-29.
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  94. Károlyi L, Ziegler A, Pollak M, Fischbach M, Grzeschik KH, Koch MC, Seyberth HW. Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome. Pediatr Nephrol. 1996 Oct; 10(5):551-4.
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  95. Pollak MR, Delaney VB, Graham RM, Hebert SC. Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred. J Am Soc Nephrol. 1996 Oct; 7(10):2244-8.
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  96. Bai M, Quinn S, Trivedi S, Kifor O, Pearce SH, Pollak MR, Krapcho K, Hebert SC, Brown EM. Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. J Biol Chem. 1996 Aug 9; 271(32):19537-45.
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  97. Pollak MR, Seidman CE, Brown EM. Three inherited disorders of calcium sensing. Medicine (Baltimore). 1996 May; 75(3):115-23.
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  98. Hebert SC, Pollak M, Riccardi D, Brown EM. A Ca(2+)-sensing receptor: from physiology to inherited disorders of calcium homeostasis. Adv Nephrol Necker Hosp. 1996; 25:245-55.
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  99. Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet. 1995 Dec; 11(4):389-94.
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  100. Hosokawa Y, Pollak MR, Brown EM, Arnold A. Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors. J Clin Endocrinol Metab. 1995 Nov; 80(11):3107-10.
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  101. Brown EM, Pollak M, Chou YH, Seidman CE, Seidman JG, Hebert SC. Cloning and functional characterization of extracellular Ca(2+)-sensing receptors from parathyroid and kidney. Bone. 1995 Aug; 17(2 Suppl):7S-11S.
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  102. Brown EM, Pollak M, Seidman CE, Seidman JG, Chou YH, Riccardi D, Hebert SC. Calcium-ion-sensing cell-surface receptors. N Engl J Med. 1995 Jul 27; 333(4):234-40.
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  103. Brown EM, Pollak M, Chou YH, Seidman CE, Seidman JG, Hebert SC. The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing. J Nutr. 1995 Jul; 125(7 Suppl):1965S-1970S.
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  104. Brown EM, Pollak M, Hebert SC. Molecular mechanisms underlying the sensing of extracellular Ca2+ by parathyroid and kidney cells. Eur J Endocrinol. 1995 May; 132(5):523-31.
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  105. Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG, et al. Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet. 1995 May; 56(5):1075-9.
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  106. Brown EM, Pollak M, Hebert SC. Sensing of extracellular Ca2+ by parathyroid and kidney cells: cloning and characterization of an extracellular Ca(2+)-sensing receptor. Am J Kidney Dis. 1995 Mar; 25(3):506-13.
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  107. Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet. 1994 Nov; 8(3):303-7.
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  108. Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest. 1994 Mar; 93(3):1108-12.
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  109. Brown EM, Pollak M, Riccardi D, Hebert SC. Cloning and characterization of an extracellular Ca(2+)-sensing receptor from parathyroid and kidney: new insights into the physiology and pathophysiology of calcium metabolism. Nephrol Dial Transplant. 1994; 9(12):1703-6.
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  110. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993 Dec 31; 75(7):1297-303.
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  111. Tonin P, Ehrenborg E, Lenoir G, Feunteun J, Lynch H, Morgan K, Zazzi H, Vivier A, Pollak M, Huynh H, et al. The human insulin-like growth factor-binding protein 4 gene maps to chromosome region 17q12-q21.1 and is close to the gene for hereditary breast-ovarian cancer. Genomics. 1993 Nov; 18(2):414-7.
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  112. Pollak MR, Chou YH, Cerda JJ, Steinmann B, La Du BN, Seidman JG, Seidman CE. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet. 1993 Oct; 5(2):201-4.
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