Publications

2013

Genovese G., Friedman D.J., Pollak M.R., APOL1 variants and kidney disease in people of recent African ancestry, Nature Reviews Nephrology, 2013 Feb;online.

Genovese G., Handsaker R.E., Li H., Altemose N., Lindgren A.M., Chambert K., Pasaniuc B., Price A.L., Reich D., Morton C.C., Pollak M.R., Wilson J.G., McCarroll S.A., Using population admixture to help complete maps of the human genome, Nat Genet, 2013 Feb;online.

Kirby A., Gnirke A., Jaffe D.B., Barešová V., Pochet N., Blumenstiel B., Ye C., Aird D., Stevens C., Robinson J.T., Cabili M.N., Gat-Viks I., Kelliher E., Daza R., DeFelice M., Hůlková H., Sovová J., Vylet'al P., Antignac C., Guttman M., Handsaker R.E., Perrin D., Steelman S., Sigurdsson S., Scheinman S.J., Sougnez C., Cibulskis K., Parkin M., Green T., Rossin E., Zody M.C., Xavier R.J., Pollak M.R., Alper S.L., Lindblad-Toh K., Gabriel S., Hart P.S., Regev A., Nusbaum C., Kmoch S., Bleyer A.J., Lander E.S., Daly M.J., Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing, Nature Genetics, 2013 Feb;online.

Quinn S.J., Thomsen A.R., Egbuna O.I., Pang J., Baxi K., Goltzman D., Pollak M.R., Brown E.M., CaSR-mediated Interactions Between Calcium and Magnesium Homeostasis in Mice, Am J Physiol Endocrinol Metab , 2013 Jan;online.

Yao N.Y., Broedersz C.P., Depken M., Becker D.J., Pollak M.R., Mackintosh F.C., Weitz D.A.., Stress-enhanced gelation: a dynamic nonlinearity of elasticity, Phys Rev Lett, 2013 Jan;online.

2012

Carrasquillo R., Tian D., Krishna S., Pollak M.R., 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.

Barua M., Brown E.J., Charoonratana V.T., Genovese G., Sun H., Pollak M.R., Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis, Kidney Int, 2012 Feb;83(2):316-22.

Toka H.R., Al-Romaih K., Koshy J.M., DiBartolo S. 3rd, Kos C.H., Quinn S.J., Curhan G.C., Mount D.B., Brown E.M., Pollak M.R., Deficiency of the calcium-sensing receptor in the kidney causes parathyroid hormone-independent hypocalciuria, J Am Soc Nephrol, 2012 Nov;23(11):1879-90.

Lee B.T., Kumar V., Williams T.A., Abdi R., Bernhardy A., Dyer C., Conte S., Genovese G., Ross M.D., Friedman D.J., Gastonb R., Milforda E., Pollak M.R., 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.

Xue Y., Xiao Y., Liu J., Karaplis A.C., Pollak M.R., Brown E.M., 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.

Pollak M.R., Genovese G., Friedman D.J., APOL1 and kidney disease, Curr Opin Nephrol Hypertens, 2012 Mar;21(2):179-82.

Boucher I., Yu W., Beaudry S., Negoro H., Tran M., Pollak M.R., Henderson J.M., Denker B.M., Gα12 activation in podocytes leads to cumulative changes in glomerular collagen expression, proteinuria and glomerulosclerosis, Lab Invest, 2012 May;92(5):662-75.

2011

Kopp J.B., Nelson G.W., Sampath K., Johnson R.C., Genovese G., An P., Friedman D., Briggs W., Dart R., Korbet S., Mokrzycki M.H., Kimmel P.L., Limou S., Ahuja T.S., Berns J.S., Fryc J., Simon E.E., Smith M.C., Trachtman H., Michel D.M., Schelling J.R., Vlahov D., Pollak M., Winkler C.A., APOL1 Genetic Variants in Focal Segmental Glomerulosclerosis and HIV-Associated Nephropathy, Journal of the American Society of Nephrology, 2011 Oct;22:2129-2137.

Friedman D.J., Kozlitina J., Genovese G., Jog P., Pollak M.R., Population-based Risk Assessment of APOL1 on Renal Disease, Journal of the American Society of Nephrology, 2011 Oct;22:2098-2105.

Kanji Z., Powe C.E., Wenger J.B., Huang C., Ankers E., Sullivan D.A., Collerone G., Powe N.R., Tonelli M., Bhan I., Bernhardy A.J., DiBartolo S., Friedman D., Genovese G., Pollak M.R., Thadhani R., Genetic Variation in APOL1 Associates with Younger Age at Hemodialysis Initiation, Journal of the American Society of Nephrology, 2011 Oct;22:2091-2097.

Yao N.I., Becker D., Broedersz C.P., Depken M., MacKintosh F.C., Pollak M.R., Weitz D.A., Nonlinear Viscoelasticity of Actin Transiently 2 Cross-Linked with Mutant α-Actinin-4 Journal of Molecular Biology, Journal of Molecular Biology, 2011 Sep;411(5):1062-1071.

Friedman D.J., Pollak M.R., Genetics of kidney failure and the evolving story of APOL1, J Clin Invest, 2011 Sep;121(9):3367-74.

Al-Romaih K.I., Genovese G., Al-Mojalli H., Al-Othman S., Al-Manea H., Al-Suleiman M., Al-Jondubi M., Atallah N., Al-Rodhyan M., Weins A., Pollak M.R., Adra C.N., Genetic Diagnosis in Consanguineous Families With Kidney Disease by Homozygosity Mapping Coupled With Whole-Exome Sequencing, American Journal of Kidney Diseases, 2011 Aug;58(2):186-195.

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.

SELECTED Sun H., Schlöndorff J.S., Brown E.J., Higgs H.N., Pollak M.R., Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2), Proceedings of the National Academy of Sciences, 2011 Feb;108(7):2933-2938.

Shankland S.J., Pollak M.R., A suPAR circulating factor causes kidney disease, Nat Med, 2011 Aug 4;17(8):926-7.

2010

Broedersz C.P., Depken M., Yao N.Y., Pollak M.R., Weitz D.A., MacKintosh F.C., Cross-link-governed dynamics of biopolymer networks, Phys Rev Lett, 2010 Dec 3;105(23):238101.

Wyss H.M., Henderson J.M., Byfield F.J., Bruggeman L.A., Ding Y., Huang C., Suh J.H., Franke T., Mele E., Pollak M.R., Miner J.H., Janmey P.A., Weitz D.A., Miller R.T., Biophysical properties of normal and diseased renal glomeruli, Am J Physiol Cell Physiol, 2011 Mar;300(3):C397-405.

Freedman B.I., Kopp J.B., Langefeld C.D., Genovese G., Friedman D.J., Nelson G.W., Winkler C.A., Bowden D.W., Pollak M.R., The Apolipoprotein L1 (APOL1) Gene and Nondiabetic Nephropathy in African Americans, Journal of the American Society of Nephrology, 2010 Sep;21(9):1422-1426.

SELECTED Genovese G., Friedman D.J., Ross M.D., Lecordier L., Uzureau P., Freedman B.I., Bowden D.W., Langefeld C.D., Oleksyk T.K., Uscinski Knob A.L., Bernhardy A.J., Hicks P.J., Nelson G.W., Vanhollebeke B., Winkler C.A., Kopp J.B., Pays E., Pollak M.R., Association of Trypanolytic ApoL1 Variants with Kidney Disease in African-Americans, Science, 2010 Aug;329(5993):841-845.

Genovese G., Tonna S.J., Knob A.U., Appel G.B., Katz A., Bernhardy A.J., Needham A.W., Lazarus R., Pollak M.R., A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9, Kidney International, 2010 Oct;78(7):698-704.

Genovese G., Leibon G., Pollak M.R., Rockmore D.N., Improved IBD detection using incomplete haplotype information, BMC Genetics, 2010 Jun;11:58.

Sun W., Sun W., Liu J., Zhou X., Xiao Y., Karaplis A., Pollak M.R., 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):985-992.

SELECTED Brown E.J., Schlöndorff J.S., Becker D.J., Tsukaguchi H., Tonna S.J., Uscinski A.L., Higgs H.N., Henderson J.M., Pollak M.R., Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis, Nature Genetics, 2010 Jan;42(1):72-76.

2009

Egbuna O.I., Quinn S.J., Kantham L., Butters R., Pang J.L., Pollak M.R., Goltzman D., Brown E.M., The Full Length Calcium-Sensing Receptor Dampens the Calcemic Response to 1a25(OH)2 Vitamin D3 In vivo Independent of Parathyroid Hormone, American Journal of Physiology-Renal Physiologyl, 2009 May;297(3):F720-F728.

Henderson J.M., Alexander M.P., Pollak M.R., Patients with ACTN4 Mutations Demonstrate Distinctive Features of Glomerular Injury, Journal of the American Society of Nephrology, 2009 May;20(5):961-968.

Schlöndorff J., Del Camino D., Carrasquillo R., Lacey V., Pollak M.R., TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription, American Journal of Physiology-Cell Physiology, 2009 Mar;296(3):C558-C569.

2008

Tonna S.J., Needham A., Polu K., Uscinski A., Appel G.B., Falk R.J., Katz A., Al-Waheeb S., Kaplan B.S., Jerums G., Savige J., Harmon J., Zhang K., Curhan G.C., Pollak M.R., NPHS2 variation in focal and segmental glomerulosclerosis, BMC Nephrology, 2008 Sep;9:13.

Volkmer Ward S.M., Weins A., Pollak M.R., Weitz D.A., Dynamic viscoelasticity of actin cross-linked with wild-type and disease-causing mutant alpha-actinin-4, Biophysical Journal, 2008 Nov;;95(10):4915-4923.

Forman J.P., Fisher N.D., Pollak M.R., Cox D.G., Tonna S.J., Curhan G.C., Renin-Angiotensin System Polymorphisms and Risk of Hypertension: Influence of Environmental Factors, Journal of Clinical Hypertension, 2008 Jun;10(6):459-466.

Tong Z., Yang Z., Patel S., Chen H., Gibbs D., Yang X., Hau V.S., Kaminoh Y., Harmon J., Pearson E., Buehler J., Chen Y., Yu B., Tinkham N.H., Zabriskie N.A., Zeng J., Luo L., Sun J.K., Prakash M., Hamam R.N., Tonna S.J, Constantine R., Ronquillo C.C., Sadda S., Avery R.L., Brand J.M., London N., Anduze A.L., King G.L., Bernstein P.S., Watkins S., Genetics of Diabetes and Diabetic Complication Study Group, Jorde L.B., Li D.Y., Aiello L.P., Pollak M.R., Zhang K., Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications, Proceedings of the National Academy of Sciences, 2008 May;105(19):6998-7003.

Leibon G., Rockmore D.N., Pollak M.R., A SNP streak model for the identification of genetic regions identical-by-descent, Statistical Applications in Genetics and Molecular Biology, 2008 7(1):16.

Tonna S.J., Dandapani S.V., Uscinski A., Appel G.A., Schlöndorff J.S., Zhang K., Denker B.M., Pollak M.R., Functional genetic variation in aminopeptidase A (ENPEP): lack of clear association with focal and segmental glomerulosclerosis (FSGS), Gene, 2008 Feb;410(1):44-52.

Lee S.H., Weins A., Hayes D.B., Pollak M.R., Dominguez R., Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis, Journal of Molecular Biology, 2008 Feb;376(2):317-324.

Henderson J.H., al-Waheeb S., Weins A., Dandapani S.V., Pollak M.R., Mice with altered expression of alpha-actinin-4 exhibit distinct morphologic patterns of glomerular disease, Kidney International, 2008 Mar;73(6):741-750.

2007

Mistry K., Ireland J.H., Ng R.C., Henderson J.M., Pollak M.R., Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis, American Journal of Kidney Diseases, 2007 Nov;50(5):855-864.

SELECTED Weins A., Schlöndorff J.S., Nakamura F., Denker B.M., Hartwig J.H., Stossel T.P., Pollak M.R., A disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin binding affinity, Proceedings of the National Academy of Sciences, 2007 104(41):16080-16085.

Copelovitch L., Guttenberg M., Pollak M.R., Kaplan B.S., Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS, Pediatric Nephrology, 2007 22(10):1779-1784.

Dandapani S.V., Sugimoto H., Matthews B.D., Kolb R.J., Sinha S., Gerszten R.E., Zhou J., Ingber D.E., Kalluri R., Pollak M.R., alpha-Actinin-4 is required for normal podocyte adhesion, Jorunal of Biological Chemistry, 2007 282(1):467-477.

2006

Chattopadhyay N., Jeong K.H., Yano S., Huang S., Pang J.L., Ren X., Terwilliger E., Kaiser U.B., Vassilev P.M., Pollak M.R., Brown E.M., 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, American Journal of Physiology-Endocrinology And Metabolism, 2006 Sep;292(2):3756-3767.

Adams G.B., Chabner K.T., Alley I.R., Olson D.P., Szczepiorkowski Z.M., Poznansky M.C., Kos C.H., Pollak M.R., Brown E.M., Scadden D.T., Stem cell engraftment at the endosteal niche is specified by the calcium-sensing receptor, Nature, 2006 Feb;439(7076):599-603.

2005

Weins A., Kenlan P., Herbert S, Le T.C., Villegas I., Kaplan B., Appel G., Pollak M.R., Mutational and Biological Analysis of ACTN4 in Focal Segmental Glomerulosclerosis, Journal of the American Society of Nephrology, 2005 16(12):3694-3701.

SELECTED Reiser J., Polu K.R., Moller C.C., Kenlan P., Altintas M.M., Wei C., Faul C., Herbert S., Villegas I., Avila-Casado C., McGee M., Sugimoto H., Brown D., Kalluri R., Mundel P., Smith P.L., Clapham D.E., Pollak M.R., TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function, Nature Genetics, 2005 May;37(7):739-744.

Hunt J.L., Pollak M.R., Denker B.M., 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, Journal of the American Society of Nephrology, 2005 Mar;16(6):1593-1602.

Leykin I., Hao K., Cheng J., Meyer N., Pollak M.R., Smith R.J., Wong W.H., Rosenow C., Li C., Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data, BMC Genetics, 2005 Feb;6(1):7.

2004

Ellinor P.T., Moore R.K., Patton K.K., Ruskin J.N., Pollak M.R., MacRae C.A., Mutations in the long QT Gene KCNQ1 are an uncommon cause of atrial fibrillation, Heart, 2004 Feb;90(12):1487-1488.

SELECTED Yao J., Le T.C., Kos C.H., Henderson J.M., Allen P.G., Denker B.M., Pollak M.R., alpha-actinin-4 mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein, PLoS Biology, 2004 Jun;2(6):787-94.

Pereira A.C., Pereira A.B., Mota G.F., Cunha R.S., Herkenhoff F.L., Pollak M.R., Mill J.G., Krieger J.E., NPHS2 R229Q functional variant is associated with microalbuminuria in the general population, Kidney International, 2004 Mar;65(3):1026-30.

2003

SELECTED Kos C.H., Le T.C., Sinha S., Henderson J., Kim S.H., Sugimoto H., Kalluri R., Gerszten R.E., Pollak M.R., Mice deficint in alpha-actinin-4 have severe glomerular disease, Journal of Clinical Investigation, 2003 Jun;111(11):1683-1690.

SELECTED Kos C.H., Karaplis A., Peng J-B., Hediger M.A., Goltzman D., Mohammad K.S., Guise T.A., Pollak M.R., The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone, Journal of Clinical Investigation, 2003 Jan;111(7):1021-1028.

2002

SELECTED Pollak M.R., Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint, Journal of the American Society of Nephrology, 2002 Dec;13:3016-3023.

SELECTED Tsukaguchi H., Sudhakar A., Le T.C., Nguyen T., Yao J., Schwimmer J., Schachter A., Poch E., Abreu P.F., Appel G., Pereira A.B., Kalluri R., Pollak M.R., NPHS2 Mutations in Late-onset Focal Segmental Glomerulosclerosis: R229Q is a Common Disease-Associated Allele, Journal of Clinical Investigation, 2002 Dec;110(11):1659-1666.

2001

SELECTED Kaplan J.M., Pollak M.R., Familial focal segmental glomerulosclerosis, Current Opinion in Nephrology and Hypertension, 2001 Mar;10(2):183-187.

2000

SELECTED Tsukaguchi H., Yager H., Dawborn J., Jost L., Cohlmia J., Abreu P., Pereira A., Pollak M.R., A locus for adolescent and adult onset focal segmental glomerulosclerosis on chromsome 1q25-31, Journal of the American Society of Nephrology, 2000 Sep;11:1674-1680.

Olszak I.T., Poznansky M.C., Evans R.H., Kos C.H., Pollak M.R., Brown E.M., Scadden D.T., Extracellular calcium elicits a chemokinetic response from monocytes in vitro and in vivo, Journal of Clinical Investigation, 2000 May;105(9):1299-1305.

SELECTED Kaplan J.M., Kim S.h., North K.N., Rennke H., Correia L.A., Tong H.Q., Mathis B.J., Rodriguez-Perez J.C., Allen P.G., Beggs A.H., Pollak M.R., Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis, Nature Genetics, 2000 Mar;24(3):251-256.

1999

Gherman R.B., Bowen E., Eggleston M.K., Teague K.E., Sayles T., Brown E.M., Pollak M.R., Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report, Journal of Reproductive Medicine, 1999 Aug;44(8):745-747.

1998

SELECTED Mathis B., Kim S.H., Calabrese K., Haas M., Seidman J.G., Seidman C.E., Pollak M.R., Rapid Communication: A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13, Kidney International, 1998 Feb;53:282-286.

1996

Bai M., Quinn S., Trivedi S., Kifor O., Pearce S.H.S., Pollak M.R., Krapcho K., Hebert S.C., Brown E.M., Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor, Journal of Biological Chemistry, 1996 Aug;271(32):19537-19545.

Karolyi L., Ziegler A., Pollak M.R., Fischbach M., van Acker K.J., Grzeschik K-H., Koch M.C., Seyberth H.W., Gitelman's syndrome is genetically distinct from Bartter's syndrome and hyperprostaglandin E syndrome, Pediatric Nephrology, 1996 Oct;10(5):551-554.

Pollak M.R., Delaney V., Graham R., Hebert S.C., Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred, Journal of the American Society of Nephrology, 1996 Oct;7(10):2244-2248.

1995

Hosokawa Y., Pollak M.R., Moore F., Brown E.M., Arnold A., Mutational analysis of the extracellular Ca2+-sensing receptor gene in human parathyroid tumors, Journal of Clinical Endocrinology and Metabolism, 1995 Nov;80(11):3107-3110.

Ho C., Conner D.A., Pollak M.R., Ladd D.J., Kifor O., Warren H.B., Brown E.M., Seidman J.G., Seidman C.E., A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, Nature Genetics, 1995 Dec;11(4):389-394.

Chou Y-H.W., Pollak M.R., Brandi M.L., Toss G., Arnqvist H., Atkinson A.B., Papapoulos S.E., Marx S., Brown E.M., Seidman J.G., Seidman C.E., Mutations in the human Ca2+-sensing-receptor gene that cause familial hypocalciuric hypercalcemia, American Journal of Human Genetics, 1995 May;56(5):1075-1079.

1994

Pollak M.R., Brown E.M., Estep H.L., McLaine P.N., Kifor O., Park J., Hebert S.C., Seidman C.E., Seidman J.G., Autosomal dominant hypocalcemia caused by a Ca2+-sensing receptor gene mutation, Nature Genetics, 1994 Nov;8(3):303-307.

Pollak M.R., Chou Y-H.W., Marx S.J., Steinmann B., Cole D.E., Brandi M.L., Papapoulos S.E., Menko F.H., Hendy G.H., Brown E.M., Seidman C.E., Seidman J.G., Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: effects of mutant gene dosage on phenotype, Journal of Clinical Investigation, 1994 Mar;93(3):1108-1112.

1993

Pollak M.R., Brown E.M., Chou Y-H.W., Hebert S.C., Marx S.J., Steinmann B., Levi T., Seidman C.E., Seidman J.G., Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, Cell, 1993 Dec;75(7):1297-1303.

Pollak M.R., Chou Y-H.W., Cerda J.J., Steinmann B., La Du B.N., Seidman J.G., Seidman C.E., Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2, Nature Genetics, 1993 Oct;5(2):201-204.

1988

Blank R.D., Campbell G.R., Pollak M.R., D'Eustachio P., Bayesian multilocus linkage mapping, Current Topics in Microbiology and Immunology, 1988 137:25-32.

1984

Pollak M.R., Schuler R.H., Numerical treatment of the kinetics of track processes in radiation chemistry, Radiation Physics and Chemistry, 1984 23:285-291.

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