Search Results - "KOON, Sarah J"

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 by Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T, van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A, Eisenberger, Tobias, Elting, Mariet W, van Wijk, Joanna A E, Bockenhauer, Detlef, Sebire, Neil J, Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J, Elshakhs, Neveen A Soliman, Koon, Sarah J, Harris, Peter C, Grahammer, Florian, Huber, Tobias B, Kuehn, E Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J, Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S

“…Soeren Lienkamp, Carsten Bergmann, Friedhelm Hildebrandt and colleagues show that mutations in ANKS6 cause nephronophthisis, a recessive cystic kidney disease…”
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Reduced Ciliary Polycystin-2 in Induced Pluripotent Stem Cells from Polycystic Kidney Disease Patients with PKD1 Mutations by FREEDMAN, Benjamin S, LAM, Albert Q, BONVENTRE, Joseph V, SUNDSBAK, Jamie L, IATRINO, Rossella, XUEFENG SU, KOON, Sarah J, MAOQING WU, DAHERON, Laurence, HARRIS, Peter C, JING ZHOU

“…Heterozygous mutations in PKD1 or PKD2, which encode polycystin-1 (PC1) and polycystin-2 (PC2), respectively, cause autosomal dominant PKD (ADPKD), whereas…”
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DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling by Schueler, Markus, Braun, Daniela A., Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D., Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J., Che, Alicia, Otto, Edgar A., Böckenhauer, Detlef, Sebire, Neil J., Honzik, Tomas, Harris, Peter C., Koon, Sarah J., Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P.H., Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P., Giles, Rachel H., Kere, Juha, Hildebrandt, Friedhelm

“…Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as…”
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Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia by Peterson, Jess F, Pitel, Beth A, Smoley, Stephanie A, Smadbeck, James B, Johnson, Sarah H, Vasmatzis, George, Koon, Sarah J, Webley, Matthew R, McGrath, Mary, Bayerl, Michael G, Baughn, Linda B, Rowsey, Ross A, Ketterling, Rhett P, Greipp, Patricia T, Hoppman, Nicole L

“…T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematopoietic neoplasm involving the bone marrow and blood that accounts for ∼15% of childhood and…”
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Whole-Genome Mate Pair Sequencing Reflex Test to Characterize Chromosome Rearrangements in Hematologic Neoplasia by Baughn, Linda B, Pitel, Beth A, Smoley, Stephanie A., Rustin, Jeannette G, Vasmatzis, George, Johnson, Sarah H, Smadbeck, James, Webley, Matthew, Koon, Sarah J, Rowsey, Ross, Kearney, Hutton, Sukov, William, Ketterling, Rhett P., Geiersbach, Katherine, Van Dyke, Daniel L., Jenkins, Robert, Greipp, Patricia, Thorland, Erik, Hoppman, Nicole, Aypar, Umut

“…Chromosomal alterations such as translocations, inversions and deletions involving one or more breaks are common in hematologic malignancies. Mate pair…”
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