APOL1 Variants Increase Risk for FSGS and HIVAN but Not IgA Nephropathy

Autor: Michael W. Ross, Jonathan A. Winston, Mary E. Klotman, Robert J. Wyatt, Holly J. Snyder, Vivette D. D'Agati, Nilgun Kacak, Jan Novak, Roel Sterken, Ali G. Gharavi, Anand N. Mhatre, Gerald B. Appel, Natalia Papeta, Bruce A. Julian, Christina M. Wyatt, Phil H. Imus, Ami Patel, Anil K. Lawani, David J. Cohen, Paul E. Klotman, Krzysztof Kiryluk

Publikováno v: Journal of the American Society of Nephrology. 22:1991-1996

A chromosome 22q13 locus strongly associates with increased risk for idiopathic focal segmental glomerulosclerosis (FSGS), HIV-1-associated nephropathy (HIVAN), and hypertensive ESRD among individuals of African descent. Although initial studies impl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b49f0abad289e2385acb7e733ab530
https://doi.org/10.1681/asn.2011040434

Critical role for cross-linking of trimeric lectin domains of surfactant protein D in antiviral activity against influenza A virus

Autor: Mitchell R. White, Uffe Holmskov, Kevan L. Hartshorn, Nilgun Kacak, Kelly A. Smith, Tesfaldet Tecle, Grith Lykke Sørensen, Donald L. Gantz, Erika C. Crouch

Publikováno v: Tecle, T, White, M R, Sørensen, G L, Gantz, D, Kacak, N, Holmskov, U, Smith, K, Crouch, E C & Hartshorn, K L 2008, ' Critical role for cross-linking of trimeric lectin domains of surfactant protein D in antiviral activity against influenza A virus ', Biochemical Journal, vol. 412, no. 2, pp. 323-9 . https://doi.org/10.1042/BJ20071663

Udgivelsesdato: Jun-1 Collectins are multimeric host defence lectins with trimeric CRDs (carbohydrate-recognition domains) and collagen and N-terminal domains that form higher-order structures composed of four or more trimers. Recombinant trimers com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45114450a82743a357953adab5094fe5
https://portal.findresearcher.sdu.dk/da/publications/e5f5cef0-6796-11dd-b1a1-000ea68e967b

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Autor: Lorraine N. Clark, Krzysztof Kiryluk, Francesco Scolari, Gian Marco Ghiggeri, Marcin Zaniew, Anna Materna-Kiryluk, Valentina Corbani, Anita Ammenti, Stephen Sanders, Stefania Giberti, Hana Flögelová, Daniele Cusi, Ali G. Gharavi, Maddalena Gigante, Simona Curioni, Kristina Drnasin, Hakon Hakonarson, Akshata Kini, Landino Allegri, Simone Sanna-Cherchi, Roel Sterken, Luca Bernardo, Claudia Izzi, Nadica Ristoska-Bojkovska, Adela Arapović, Loreto Gesualdo, Brittany J. Perry, Sandosh Padmanabhan, Matthew W. State, Vladimir J Lozanovski, Alba Carrea, Cristina Barlassina, Dexter Hadley, Matthew G. Sampson, Richard P. Lifton, Tatiana Foroud, Wendy K. Chung, Gianluca Caridi, Miguel Verbitsky, Shannon N. Nees, Zoran Gucev, Nilgun Kacak, Marijan Saraga, Vinicio Goj, Katelyn Elizabeth Burgess, Velibor Tasic, Monica Bodria, Patricia L. Weng, Stefania Ferretti, Beatrice Bianco, Danio Somenzi, Corrado Murtas, Anna Latos-Bielenska, Vaidehi Jobanputra, Franca Allegri, Anna F. Dominiczak

Publikováno v: American journal of human genetics, vol 91, iss 6

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37aace9b86699c6a0922f8cdf344d229