Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants

por Shi, Vivian, Stein, Quinn, Clark, Dinah, Punj, Sumit, Kremsdorf, Robin, Faizan, Mohammed
Publicado 2023

Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors

por Singh, Gurmukteshwar, Gohh, Reginald, Clark, Dinah, Kalra, Kartik, Das, Manoj, Bradauskaite, Gitana, Bleyer, Anthony J., Tanriover, Bekir, Chang, Alex R., Anand, Prince M.
Publicado 2022

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

por Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Clark, Dinah, Kaur, Maninder, Tandy, Stephany, Kondoh, Tatsuro, Rappaport, Eric, Spinner, Nancy B., Vega, Hugo, Jackson, Laird G., Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2009

Genome-wide DNA methylation analysis in cohesin mutant human cell lines

por Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Li, Jennifer R., Clark, Dinah, Kaur, Maninder, Tatsuro, Kondo, Kline, Antonie D., Chang, Celia, Vega, Hugo, Jackson, Laird G., Spinner, Nancy B., Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2010

Germline Gain-of-Function Mutations in AFF4 Cause a Developmental Syndrome Functionally Linking the Super Elongation Complex and Cohesin

por Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C., Noon, Sarah, Dulik, Matthew C., Rajagopalan, Ramkakrishnan, Venditti, Charles P., Gripp, Karen, Samanich, Joy, Zackai, Elaine H., Deardorff, Matthew A., Clark, Dinah, Allen, Julian L., Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D.
Publicado 2015

HDAC8 mutations in Cornelia de Lange Syndrome affect the cohesin acetylation cycle

por Deardorff, Matthew A., Bando, Masashige, Nakato, Ryuichiro, Watrin, Erwan, Itoh, Takehiko, Minamino, Masashi, Saitoh, Katsuya, Komata, Makiko, Katou, Yuki, Clark, Dinah, Cole, Kathryn E., Baere, Elfride De, Decroos, Christophe, Donato, Nataliya Di, Ernst, Sarah, Francey, Lauren J., Gyftodimou, Yolanda, Hirashima, Kyotaro, Hullings, Melanie, Ishikawa, Yuuichi, Jaulin, Christian, Kaur, Maninder, Kiyono, Tohru, Lombardi, Patrick M., Magnaghi-Jaulin, Laura, Mortier, Geert R., Nozaki, Naohito, Petersen, Michael B., Seimiya, Hiroyuki, Siu, Victoria M., Suzuki, Yutaka, Takagaki, Kentaro, Wilde, Jonathan J., Willems, Patrick J., Prigent, Claude, Gillessen-Kaesbach, Gabriele, Christianson, David W., Kaiser, Frank J., Jackson, Laird G., Hirota, Toru, Krantz, Ian D., Shirahige, Katsuhiko
Publicado 2012