Now showing items 1-18 of 18

    • The Calcium-Sensing Receptor Mediates Bone Turnover Induced by Dietary Calcium and Parathyroid Hormone in Neonates 

      Shu, Lei; Ji, Ji; Zhu, Qi; Cao, Guofan; Karaplis, Andrew; Pollak, Martin Russell; Brown, Edward; Goltzman, David; Miao, Dengshun (Wiley Subscription Services, Inc., A Wiley Company, 2011)
      We have investigated, in neonates, whether the calcium-sensing receptor (CaR) mediates the effects of dietary calcium on bone turnover and/or modulates parathyroid hormone (PTH)–induced bone turnover. Wild-type (WT) pups ...
    • Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data 

      Leykin, Igor; Hao, Ke; Cheng, Junsheng; Meyer, Nicole; Pollak, Martin Russell; Smith, Richard JH; Wong, Wing Hung; Rosenow, Carsten; Li, Cheng (BioMed Central, 2005)
      Background: The identification of disease-associated genes using single nucleotide polymorphisms (SNPs) has been increasingly reported. In particular, the Affymetrix Mapping 10 K SNP microarray platform uses one PCR primer ...
    • Copy Number Variation at the APOL1 Locus 

      Ruchi, Rupam; Genovese, Giulio; Lee, Jessica; Charoonratana, Victoria T.; Bernhardy, Andrea J.; Alper, Seth L.; Kopp, Jeffrey B.; Thadhani, Ravi; Friedman, David J.; Pollak, Martin R. (Public Library of Science, 2015)
      Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative ...
    • Discovery of new glomerular disease-relevant genes by translational profiling of podocytes in vivo 

      Grgic, Ivica; Hofmeister, Andreas F.; Genovese, Giulio; Bernhardy, Andrea J.; Sun, Hua; Maarouf, Omar H.; Bijol, Vanesa; Pollak, Martin R.; Humphreys, Benjamin D. (2014)
      Identifying new biomarkers and therapeutic targets for podocytopathies such as focal segmental glomerulosclerosis (FSGS) requires a detailed analysis of transcriptional changes in podocytes over the course of disease. Here ...
    • Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis 

      Barua, Moumita; Shieh, Eric; Schlondorff, Johannes; Genovese, Giulio; Kaplan, Bernard S; Pollak, Martin R (2013)
      Our understanding of focal and segmental glomerulosclerosis (FSGS) has advanced significantly from the studies of rare, monogenic forms of the disease. These studies have demonstrated the critical roles of multiple aspects ...
    • Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion 

      Toka, Hakan R.; Genovese, Giulio; Mount, David B.; Pollak, Martin R.; Curhan, Gary C. (Public Library of Science, 2013)
      Our study investigated the association of rare allelic variants with extremes of 24-hour urinary calcium excretion because higher urinary calcium excretion is a dominant risk factor for calcium-based kidney stone formation. ...
    • 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 

      Feng, Di; Steinke, Julia M.; Krishnan, Ramaswamy; Birrane, Gabriel; Pollak, Martin R. (Public Library of Science, 2016)
      Genetic testing in the clinic and research lab is becoming more routinely used to identify rare genetic variants. However, attributing these rare variants as the cause of disease in an individual patient remains challenging. ...
    • Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing 

      Brown, Elizabeth J.; Pollak, Martin R.; Barua, Moumita (2014)
      The haploid human genome is composed of three billion base pairs, about one percent of which consists of exonic regions, the coding sequence for functional proteins, also now known as the “exome”. The development of ...
    • Gα12 Activation in Podocytes Leads to Cumulative Changes in Glomerular Collagen Expression, Proteinuria and Glomerulosclerosis 

      Boucher, Ilene; Yu, Wanfeng; Beaudry, Sarah; Negoro, Hideyuki; Tran, Mei; Pollak, Martin; Henderson, Joel; Denker, Bradley M. (2012)
      Glomerulosclerosis is a common pathologic finding that often progresses to renal failure. The mechanisms of chronic kidney disease progression are not well-defined but may include activation of numerous vasoactive and ...
    • Human Kidney Disease-causing INF2 Mutations Perturb Rho/Dia Signaling in the Glomerulus 

      Sun, Hua; Al-Romaih, Khaldoun I.; MacRae, Calum A.; Pollak, Martin R. (Elsevier, 2014)
      Mutations in Inverted Formin 2 (INF2), a diaphanous formin family protein that regulates actin cytoskeleton dynamics, cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth Disease (CMT) in humans. In ...
    • Improved IBD Detection Using Incomplete Haplotype Information 

      Genovese, Giulio; Leibon, Gregory; Pollak, Martin Russell; Rockmore, Daniel N (BioMed Central, 2010)
      Background: The availability of high density genetic maps and genotyping platforms has transformed human genetic studies. The use of these platforms has enabled population-based genome-wide association studies. However, ...
    • Innate immunity pathways regulate the nephropathy gene Apolipoprotein L1 

      Nichols, Brendan; Jog, Prachi; Lee, Jessica; Blackler, Daniel; Wilmot, Michael; D’Agati, Vivette; Markowitz, Glen; Kopp, Jeffrey; Alper, Seth L.; Pollak, Martin R.; Friedman, David J. (2014)
      Apolipoprotein L1 (APOL1) risk variants greatly elevate the risk of kidney disease in African Americans. Here we report a cohort of patients who developed collapsing focal segmental glomerulosclerosis while receiving ...
    • Magnesium intake, plasma C-peptide, and colorectal cancer incidence in US women: a 28-year follow-up study 

      Zhang, Xiaoxiao; Giovannucci, Edward L.; Wu, Kunling; Smith-Warner, Stephanie A.; Fuchs, Charles Stewart; Pollak, Martin Russell; Willett, Walter C.; Ma, Jing (Nature Publishing Group, 2012)
      Background: Laboratory studies suggest a possible role of magnesium intake in colorectal carcinogenesis but epidemiological evidence is inconclusive. Method: We tested magnesium–colorectal cancer hypothesis in the Nurses' ...
    • Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing 

      Kirby, Andrew; Gnirke, Andreas; Jaffe, David B.; Barešová, Veronika; Pochet, Nathalie; Blumenstiel, Brendan; Ye, Chun; Aird, Daniel; Stevens, Christine; Robinson, James T.; Cabili, Moran N.; Gat-Viks, Irit; Kelliher, Edward; Daza, Riza; DeFelice, Matthew; Hůlková, Helena; Sovová, Jana; Vylet’al, Petr; Antignac, Corinne; Guttman, Mitchell; Handsaker, Robert E.; Perrin, Danielle; Steelman, Scott; Sigurdsson, Snaevar; Scheinman, Steven J.; Sougnez, Carrie; Cibulskis, Kristian; Parkin, Melissa; Green, Todd; Rossin, Elizabeth; Zody, Michael C.; Xavier, Ramnik J.; Pollak, Martin R.; Alper, Seth L.; Lindblad-Toh, Kerstin; Gabriel, Stacey; Hart, P. Suzanne; Regev, Aviv; Nusbaum, Chad; Kmoch, Stanislav; Bleyer, Anthony J.; Lander, Eric S.; Daly, Mark J. (2014)
      While genetic lesions responsible for some Mendelian disorders can be rapidly discovered through massively parallel sequencing (MPS) of whole genomes or exomes, not all diseases readily yield to such efforts. We describe ...
    • Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications 

      Tong, Z.; Yang, Z.; Patel, Shrena; 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, Jennifer Katherine; Prakash, M.; Hamam, R. N.; Tonna, S.; Constantine, R.; Ronquillo, C. C.; Sadda, S.; Avery, R. L.; Brand, J. M.; London, N.; Anduze, A. L.; King, George Liang; Bernstein, P. S.; Watkins, S.; Jorde, L. B.; Li, D. Y.; Aiello, Lloyd Paul; Pollak, Martin Russell; Zhang, K. (Proceedings of the National Academy of Sciences, 2008)
      Significant morbidity and mortality among patients with diabetes mellitus result largely from a greatly increased incidence of microvascular complications. Proliferative diabetic retinopathy (PDR) and end stage renal disease ...
    • SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity 

      Carrasquillo, Robert; Tian, Dequan; Krishna, Sneha; Pollak, Martin Russell; Greka, Anna; Schlöndorff, Johannes (BioMed Central, 2012)
      Background: Transient receptor potential canonical (TRPC) channels are non-selective cation channels involved in receptor-mediated calcium signaling in diverse cells and tissues. The canonical transient receptor potential ...
    • Using population admixture to help complete maps of the human genome 

      Genovese, Giulio; Handsaker, Robert E.; Li, Heng; Altemose, Nicolas; Lindgren, Amelia M.; Chambert, Kimberly; Pasaniuc, Bogdan; Price, Alkes L.; Reich, David; Morton, Cynthia C.; Pollak, Martin R.; Wilson, James G.; McCarroll, Steven A. (2013)
      Tens of millions of base pairs of euchromatic human genome sequence, including many protein-coding genes, have no known location in the human genome. We describe an approach for localizing the human genome's missing pieces ...
    • α-Actinin-4 Is Essential for Maintaining the Spreading, Motility and Contractility of Fibroblasts 

      Shao, Hanshuang; Wang, James H. C.; Pollak, Martin Russell; Wells, Alan (Public Library of Science, 2010)
      Background: α-Actinins cross-link actin filaments, with this cross-linking activity regulating the formation of focal adhesions, intracellular tension, and cell migration. Most non-muscle cells such as fibroblasts express ...