NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR

por Yuen, Kobe C., Xu, Baoshan, Krantz, Ian D., Gerton, Jennifer L.
Publicado 2015

Mosaic ratio quantification of isochromosome 12p in Pallister–Killian syndrome using droplet digital PCR

por Fujiki, Katsunori, Shirahige, Katsuhiko, Kaur, Maninder, Deardorff, Matthew A., Conlin, Laura K., Krantz, Ian D., Izumi, Kosuke
Publicado 2016

Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes

por Schindler, Emma A., Gilbert, Melissa A., Piccoli, David A., Spinner, Nancy B., Krantz, Ian D., Loomes, Kathleen M.
Publicado 2020

Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome

por Kaur, Maninder, Izumi, Kosuke, Wilkens, Alisha B., Chatfield, Kathryn C., Spinner, Nancy B., Conlin, Laura K., Zhang, Zhe, Krantz, Ian D.
Publicado 2014

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome

por Mannini, Linda, C. Lamaze, Fabien, Cucco, Francesco, Amato, Clelia, Quarantotti, Valentina, Rizzo, Ilaria M, Krantz, Ian D, Bilodeau, Steve, Musio, Antonio
Publicado 2015

SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins

por Mannini, Linda, Cucco, Francesco, Quarantotti, Valentina, Amato, Clelia, Tinti, Mara, Tana, Luigi, Frattini, Annalisa, Delia, Domenico, Krantz, Ian D., Jessberger, Rolf, Musio, Antonio
Publicado 2015

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

por Masino, Aaron J, Dechene, Elizabeth T, Dulik, Matthew C, Wilkens, Alisha, Spinner, Nancy B, Krantz, Ian D, Pennington, Jeffrey W, Robinson, Peter N, White, Peter S
Publicado 2014

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

por Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami
Publicado 2016

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

por Rajagopalan, Ramakrishnan, Gilbert, Melissa A., McEldrew, Deborah A., Nassur, James A., Loomes, Kathleen M., Piccoli, David A., Krantz, Ian D., Conlin, Laura K., Spinner, Nancy B.
Publicado 2020

Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin

por Weiss, Felix D., Calderon, Lesly, Wang, Yi-Fang, Georgieva, Radina, Guo, Ya, Cvetesic, Nevena, Kaur, Maninder, Dharmalingam, Gopuraja, Krantz, Ian D., Lenhard, Boris, Fisher, Amanda G., Merkenschlager, Matthias
Publicado 2021

A Cohesin-Independent Role for NIPBL at Promoters Provides Insights in CdLS

por Zuin, Jessica, Franke, Vedran, van IJcken, Wilfred F. J., van der Sloot, Antoine, Krantz, Ian D., van der Reijden, Michael I. J. A., Nakato, Ryuichiro, Lenhard, Boris, Wendt, Kerstin S.
Publicado 2014

NIPBL(+/−) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states

por Mills, Jason A., Herrera, Pamela S, Kaur, Maninder, Leo, Lanfranco, McEldrew, Deborah, Tintos-Hernandez, Jesus A, Rajagopalan, Ramakrishnan, Gagne, Alyssa, Zhang, Zhe, Ortiz-Gonzalez, Xilma R., Krantz, Ian D.
Publicado 2018

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

Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4

por van der Ende, Sarah R., Meyers, Benjamin S., Capasso, Jenina E., Sasongko, Mario, Yonekawa, Yoshihiro, Pihlblad, Matthew, Huey, Jennifer, Bedoukian, Emma C., Krantz, Ian D., Ngo, Michael H., McMaster, Christopher R., Levin, Alex V., Robitaille, Johane M.
Publicado 2022

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

Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

por Wu, Yaning, Gause, Maria, Xu, Dongbin, Misulovin, Ziva, Schaaf, Cheri A., Mosarla, Ramya C., Mannino, Elizabeth, Shannon, Megan, Jones, Emily, Shi, Mi, Chen, Wen-Feng, Katz, Olivia L., Sehgal, Amita, Jongens, Thomas A., Krantz, Ian D., Dorsett, Dale
Publicado 2015

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy

por Ahrens-Nicklas, Rebecca C., Pappas, Christopher T., Farman, Gerrie P., Mayfield, Rachel M., Larrinaga, Tania M., Medne, Livija, Ritter, Alyssa, Krantz, Ian D., Murali, Chaya, Lin, Kimberly Y., Berger, Justin H., Yum, Sabrina W., Carreon, Chrystalle Katte, Gregorio, Carol C.
Publicado 2019

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

por Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M., Krantz, Ian D., Piccoli, David A., Loomes, Kathleen M., Spinner, Nancy B.
Publicado 2019

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

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

por Li, Mindy H., Abrudan, Jenica L., Dulik, Matthew C., Sasson, Ariella, Brunton, Joshua, Jayaraman, Vijayakumar, Dugan, Noreen, Haley, Danielle, Rajagopalan, Ramakrishnan, Biswas, Sawona, Sarmady, Mahdi, DeChene, Elizabeth T., Deardorff, Matthew A., Wilkens, Alisha, Noon, Sarah E., Scarano, Maria I., Santani, Avni B., White, Peter S., Pennington, Jeffrey, Conlin, Laura K., Spinner, Nancy B., Krantz, Ian D., Vetter, Victoria L.
Publicado 2015