Search Results - "Pawlikowska, L."

Genetics of cerebral cavernous malformations: current status and future prospects by Choquet, H, Pawlikowska, L, Lawton, M T, Kim, H

“…Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral…”
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Predictors of mortality in patients with hereditary hemorrhagic telangiectasia by Thompson, K P, Nelson, J, Kim, H, Pawlikowska, L, Marchuk, D A, Lawton, M T, Faughnan, Marie E

“…Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT)…”
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Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain by Kremer, P H C, Koeleman, B P C, Pawlikowska, L, Weinsheimer, S, Bendjilali, N, Sidney, S, Zaroff, J G, Rinkel, G J E, van den Berg, L H, Ruigrok, Y M, de Kort, G A P, Veldink, J H, Kim, H, Klijn, C J M

“…Background In genome-wide association studies (GWAS) five putative risk loci are associated with intracranial aneurysm. As brain arteriovenous malformations…”
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Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations by Kim, H, Marchuk, D A, Pawlikowska, L, Chen, Y, Su, H, Yang, G Y, Young, W L

“…Brain arteriovenous malformations (AVMs) cause intracranial hemorrhage (ICH), especially in young adults. Molecular characterization of lesional tissue…”
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A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion by Pawlikowska, Ludmila, Groen, Annemiek, Eppens, Elaine F., Kunne, Cindy, Ottenhoff, Roelof, Looije, Norbert, Knisely, A.S., Killeen, Nigel P., Bull, Laura N., Elferink, Ronald P.J. Oude, Freimer, Nelson B.

“…Mutations in ATP8B1, a broadly expressed P-type ATPase, result, through unknown mechanisms, in disorders of bile secretion. These disorders vary in severity…”
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636 The 4G/4G Genotype of the Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G Polymorphism Is Associated with Decreased Lung Allograft Utilization and Decreased Overall Organ Utilization by Sapru, A, Zaroff, J, Pawlikowska, L, Baxter-Lowe, L.A, Khush, K.K, Lo, V, Kukreja, J, Matthay, M.A

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Beta‐Adrenergic Receptor Polymorphisms and Cardiac Graft Function in Potential Organ Donors by Khush, K. K., Pawlikowska, L., Menza, R. L., Goldstein, B. A., Hayden, V., Nguyen, J., Kim, H., Poon, A., Sapru, A., Matthay, M. A., Kwok, P. Y., Young, W. L., Baxter‐Lowe, L. A., Zaroff, J. G.

“…Prior studies have demonstrated associations between beta‐adrenergic receptor (βAR) polymorphisms and left ventricular dysfunction—an important cause of…”
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The 4G/4G Genotype of the PAI‐1 (Serpine‐1) 4G/5G Polymorphism Is Associated With Decreased Lung Allograft Utilization by Sapru, A., Zaroff, J. G., Pawlikowska, L., Liu, K. D., Khush, K. K., Baxter‐Lowe, L. A., Hayden, V., Menza, R. L., Convery, M., Lo, V., Poon, A., Kim, H., Young, W. L., Kukreja, J., Matthay, M. A.

“…Widespread thrombi are found among donor lungs rejected for transplantation. The 4G/5G polymorphism in the plasminogen activator inhibitor (PAI‐1) gene impacts…”
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Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease by Scherer, M L, Nalls, M A, Pawlikowska, L, Ziv, E, Mitchell, G, Huntsman, S, Hu, D, Sutton-Tyrrell, K, Lakatta, E G, Hsueh, W-C, Newman, A B, Tandon, A, Kim, L, Kwok, P-Y, Sung, A, Li, R, Psaty, B, Reiner, A P, Harris, T

“…Peripheral arterial disease (PAD) is associated with significant morbidity and mortality, and has a higher prevalence in African Americans than Caucasians…”
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551: Beta-Adrenergic Receptor SNPs Are Associated with Lung Graft Utilization by Sapru, A, Pawlikowska, L, Liu, K, Khush, K.K, Baxter-Lowe, L.A, Babcock, W, Hayden, V, Menza, R.L, Landeck, M, Zaroff, J.G, Matthay, M.A

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348: Beta-Adrenergic Receptor Polymorphisms Are Associated with Cardiac Graft Function in Potential Organ Donors by Khush, K.K, Pawlikowska, L, Menza, R, Hayden, V, Babcock, W, Sapru, A, Matthay, M.A, Landeck, M, Young, W, Hoopes, C, Baxter-Lowe, L.A, Zaroff, J.G

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A haplotype map of the human genome by Gibbs, Richard A, Belmont, John W, Boudreau, Andrew, Leal, Suzanne M

“…Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in…”
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Differences in presentation and progression between severe FIC1 and BSEP deficiencies by Pawlikowska, Ludmila, Strautnieks, Sandra, Jankowska, Irena, Czubkowski, Piotr, Emerick, Karan, Antoniou, Anthony, Wanty, Catherine, Fischler, Bjorn, Jacquemin, Emmanuel, Wali, Sami, Blanchard, Samra, Nielsen, Inge-Merete, Bourke, Billy, McQuaid, Shirley, Lacaille, Florence, Byrne, Jane A, van Eerde, Albertien M, Kolho, Kaija-Leena, Klomp, Leo, Houwen, Roderick, Bacchetti, Peter, Lobritto, Steven, Hupertz, Vera, McClean, Patricia, Mieli-Vergani, Giorgina, Shneider, Benjamin, Nemeth, Antal, Sokal, Etienne, Freimer, Nelson B, Knisely, A.S, Rosenthal, Philip, Whitington, Peter F, Pawlowska, Joanna, Thompson, Richard J, Bull, Laura N

“…Background & Aims Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in…”
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Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency by Knisely, A. S., Strautnieks, Sandra S., Meier, Yvonne, Stieger, Bruno, Byrne, Jane A., Portmann, Bernard C., Bull, Laura N., Pawlikowska, Ludmila, Bilezikçi, Banu, Özçay, Figen, László, Aranka, Tiszlavicz, László, Moore, Lynette, Raftos, Jeremy, Arnell, Henrik, Fischler, Björn, Németh, Antal, Papadogiannakis, Nikos, Cielecka‐Kuszyk, Joanna, Jankowska, Irena, Pawłowska, Joanna, Melín‐Aldana, Hector, Emerick, Karan M., Whitington, Peter F., Mieli‐Vergani, Giorgina, Thompson, Richard J.

“…Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if immunohistochemical and mutational‐analysis studies could demonstrate that…”
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Common variants on 9p21.3 are associated with brain arteriovenous malformations with accompanying arterial aneurysms by Bendjilali, Nasrine, Nelson, Jeffrey, Weinsheimer, Shantel, Sidney, Stephen, Zaroff, Jonathan G, Hetts, Steven W, Segal, Mark, Pawlikowska, Ludmila, McCulloch, Charles E, Young, William L, Kim, Helen

“…Objective To investigate whether previously reported 9p21.3 single nucleotide polymorphisms (SNPs) are associated with risk of brain arteriovenous…”
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Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels by Reich, David, Patterson, Nick, Ramesh, Vijaya, De Jager, Philip L., McDonald, Gavin J., Tandon, Arti, Choy, Edwin, Hu, Donglei, Tamraz, Bani, Pawlikowska, Ludmila, Wassel-Fyr, Christina, Huntsman, Scott, Waliszewska, Alicja, Rossin, Elizabeth, Li, Rongling, Garcia, Melissa, Reiner, Alexander, Ferrell, Robert, Cummings, Steve, Kwok, Pui-Yan, Harris, Tamara, Zmuda, Joseph M., Ziv, Elad

“…Circulating levels of inflammatory markers can predict cardiovascular disease risk. To identify genes influencing the levels of these markers, we genotyped…”
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Characterization of mutations in ATP8B1 associated with hereditary cholestasis by Klomp, Leo W. J., Vargas, Julie C., van Mil, Saskia W. C., Pawlikowska, Ludmila, Strautnieks, Sandra S., van Eijk, Michiel J. T., Juijn, Jenneke A., Pabón‐Peña, Carlos, Smith, Lauren B., DeYoung, Joseph A., Byrne, Jane A., Gombert, Justijn, van der Brugge, Gerda, Berger, Ruud, Jankowska, Irena, Pawlowska, Joanna, Villa, Erica, Knisely, A. S., Thompson, Richard J., Freimer, Nelson B., Houwen, Roderick H. J., Bull, Laura N.

“…Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC…”
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Interleukin-6 involvement in brain arteriovenous malformations by Chen, Yongmei, Pawlikowska, Ludmila, Yao, Jianhua S., Shen, Fanxia, Zhai, Wenwu, Achrol, Achal S., Lawton, Michael T., Kwok, Pui-Yan, Yang, Guo-Yuan, Young, William L.

“…We recently reported that the GG genotype of the interleukin‐6 (IL‐6)–174G>C promoter polymorphism is associated with clinical presentation of intracranial…”
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A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis by Bull, L N, van Eijk, M J, Pawlikowska, L, DeYoung, J A, Juijn, J A, Liao, M, Klomp, L W, Lomri, N, Berger, R, Scharschmidt, B F, Knisely, A S, Houwen, R H, Freimer, N B

“…Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver disease. Two clinically distinct forms of inherited…”
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Is Altered Expression of Hepatic Insulin-Related Genes in Growth Hormone Receptor Knockout Mice Due to GH Resistance or a Difference in Biological Life Spans? by Panici, Jacob A., Wang, Feiya, Bonkowski, Michael S., Spong, Adam, Bartke, Andrzej, Pawlikowska, Ludmila, Kwok, Pui-Yan, Masternak, Michal M.

“…Growth hormone receptor knockout (GHRKO) mice live about 40%–55% longer than their normal (N) littermates. Previous studies of 21-month-old GHRKO and N mice…”
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