A Method for the Quantitative Analysis of Stimulation-Induced Nuclear Translocation of the p65 Subunit of NF-κB from Patient-Derived Dermal Fibroblasts

অনুযায়ী Wessel, Alex W., Hanson, Eric P.
প্রকাশিত Methods Mol Biol (2015)

Congenital alterations of glutamic acid 223 in the second NEMO alpha-helix result in Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Normal Serum IgG Levels

অনুযায়ী Karamchandani-Patel, Gital, Hanson, Eric P., Saltzman, Rushani, Kimball, C. Eve, Sorensen, Ricardo U., Orange, Jordan S.
প্রকাশিত 2011

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

অনুযায়ী Rider, Nicholas L., Boisson, Bertrand, Jyonouchi, Soma, Hanson, Eric P., Rosenzweig, Sergio D., Casanova, Jean-Laurent, Orange, Jordan S.
প্রকাশিত Front Pediatr (2015)

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

অনুযায়ী Rider, Nicholas L., Boisson, Bertrand, Jyonouchi, Soma, Hanson, Eric P., Rosenzweig, Sergio D., Casanova, Jean-Laurent, Orange, Jordan S.
প্রকাশিত Front Pediatr (2015)

Hypomorphic NEMO mutation database and reconstitution system identifies phenotypic and immunologic diversity

অনুযায়ী Hanson, Eric P., Monaco-Shawver, Linda, Solt, Laura A., Madge, Lisa A., Banerjee, Pinaki P., May, Michael J., Orange, Jordan S.
প্রকাশিত 2008

A Novel Missense Mutation in the Nuclear Factor-κB Essential Modulator (NEMO) Gene Resulting in Impaired Activation of the NF-κB Pathway and a Unique Clinical Phenotype Presenting...

অনুযায়ী Devora, Gene A., Sun, Lijun, Chen, Zhijian, van Oers, Nicolai S. C., Hanson, Eric P., Orange, Jordan S., de la Morena, M. Teresa
প্রকাশিত 2010

IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

অনুযায়ী Salt, Bryn H., Niemela, Julie E., Pandey, Rahul, Hanson, Eric P., Deering, Raquel P., Quinones, Ralph, Jain, Ashish, Orange, Jordan S., Gelfand, Erwin W.
প্রকাশিত 2008

The amino terminus of JAK3 is necessary and sufficient for binding to the common γ chain and confers the ability to transmit interleukin 2-mediated signals

অনুযায়ী Chen, Min, Cheng, Alan, Chen, Yi-Qing, Hymel, Anka, Hanson, Eric P., Kimmel, Lida, Minami, Yasuhiro, Taniguchi, Tadatsugu, Changelian, Paul S., O’Shea, John J.
প্রকাশিত 1997

Distinct tyrosine phosphorylation sites in JAK3 kinase domain positively and negatively regulate its enzymatic activity

অনুযায়ী Zhou, Yong-Jie, Hanson, Eric P., Chen, Yi-Qing, Magnuson, Kelly, Chen, Min, Swann, Patrick G., Wange, Ronald L., Changelian, Paul S., O’Shea, John J.
প্রকাশিত 1997

Cutting Edge: Association with IκB Kinase β Regulates the Subcellular Localization of Homer3

অনুযায়ী Yatherajam, Gayatri, Banerjee, Pinaki P., McCorkell, Kelly A., Solt, Laura A., Hanson, Eric P., Madge, Lisa A., Kang, Shin, Worley, Paul F., Orange, Jordan S., May, Michael J.
প্রকাশিত 2010

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

অনুযায়ী Keller, Michael D., Petersen, Maureen, Ong, Peck, Church, Joseph, Risma, Kimberly, Burham, Jon, Jain, Ashish, Stiehm, E. Richard, Hanson, Eric P., Uzel, Gulbu, Deardorff, Matthew A., Orange, Jordan S.
প্রকাশিত 2011

Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease

অনুযায়ী Zilberman-Rudenko, Jevgenia, Shawver, Linda Monaco, Wessel, Alex W., Luo, Yongquan, Pelletier, Martin, Tsai, Wanxia Li, Lee, Younglang, Vonortas, Spiridon, Cheng, Laurence, Ashwell, Jonathan D., Orange, Jordan S., Siegel, Richard M., Hanson, Eric P.
প্রকাশিত Proc Natl Acad Sci U S A (2016)

Distribution and functional consequences of somatic MAP2K1 mutations in affected skin associated with bone lesions in melorheostosis

অনুযায়ী Jha, Smita, Ivovic, Aleksandra, Kang, Heeseog, Meylan, Françoise, Hanson, Eric P., Rimland, Casey, Lange, Eileen, Katz, James, McBride, Alison, Warner, Andrew C., Edmondson, Elijah F., Cowen, Edward W., Marini, Joan C., Siegel, Richard M., Bhattacharyya, Timothy
প্রকাশিত J Invest Dermatol (2020)

Somatic activating mutations in MAP2K1 cause melorheostosis

অনুযায়ী Kang, Heeseog, Jha, Smita, Deng, Zuoming, Fratzl-Zelman, Nadja, Cabral, Wayne A., Ivovic, Aleksandra, Meylan, Françoise, Hanson, Eric P., Lange, Eileen, Katz, James, Roschger, Paul, Klaushofer, Klaus, Cowen, Edward W., Siegel, Richard M., Marini, Joan C., Bhattacharyya, Timothy
প্রকাশিত Nat Commun (2018)

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway

অনুযায়ী Kang, Heeseog, Jha, Smita, Ivovic, Aleksandra, Fratzl-Zelman, Nadja, Deng, Zuoming, Mitra, Apratim, Cabral, Wayne A., Hanson, Eric P., Lange, Eileen, Cowen, Edward W., Katz, James, Roschger, Paul, Klaushofer, Klaus, Dale, Ryan K., Siegel, Richard M., Bhattacharyya, Timothy, Marini, Joan C.
প্রকাশিত J Exp Med (2020)

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

অনুযায়ী Kotlarz, Daniel, Ziętara, Natalia, Uzel, Gulbu, Weidemann, Thomas, Braun, Christian J., Diestelhorst, Jana, Krawitz, Peter M., Robinson, Peter N., Hecht, Jochen, Puchałka, Jacek, Gertz, E. Michael, Schäffer, Alejandro A., Lawrence, Monica G., Kardava, Lela, Pfeifer, Dietmar, Baumann, Ulrich, Pfister, Eva-Doreen, Hanson, Eric P., Schambach, Axel, Jacobs, Roland, Kreipe, Hans, Moir, Susan, Milner, Joshua D., Schwille, Petra, Mundlos, Stefan, Klein, Christoph
প্রকাশিত 2013

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome

অনুযায়ী Zhou, Qing, Wang, Hongying, Schwartz, Daniella M., Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J., Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T., Zaal, Kristien, Chandrasekharappa, Settara C., Hanson, Eric P., Yu, Zhen, Mullikin, James C., Hasni, Sarfaraz A., Wertz, Ingrid, Ombrello, Amanda K., Stone, Deborah L., Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K., Leavis, Helen L., van Royen-Kerkof, Annet, Sibley, Cailin, Batu, Ezgi D., Gül, Ahmet, Siegel, Richard M., Boehm, Manfred, Milner, Joshua D., Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M., Kastner, Daniel L., Aksentijevich, Ivona
প্রকাশিত Nat Genet (2015)

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

অনুযায়ী de Jesus, Adriana A., Hou, Yangfeng, Brooks, Stephen, Malle, Louise, Biancotto, Angelique, Huang, Yan, Calvo, Katherine R., Marrero, Bernadette, Moir, Susan, Oler, Andrew J., Deng, Zuoming, Montealegre Sanchez, Gina A., Ahmed, Amina, Allenspach, Eric, Arabshahi, Bita, Behrens, Edward, Benseler, Susanne, Bezrodnik, Liliana, Bout-Tabaku, Sharon, Brescia, AnneMarie C., Brown, Diane, Burnham, Jon M., Caldirola, Maria Soledad, Carrasco, Ruy, Chan, Alice Y., Cimaz, Rolando, Dancey, Paul, Dare, Jason, DeGuzman, Marietta, Dimitriades, Victoria, Ferguson, Ian, Ferguson, Polly, Finn, Laura, Gattorno, Marco, Grom, Alexei A., Hanson, Eric P., Hashkes, Philip J., Hedrich, Christian M., Herzog, Ronit, Horneff, Gerd, Jerath, Rita, Kessler, Elizabeth, Kim, Hanna, Kingsbury, Daniel J., Laxer, Ronald M., Lee, Pui Y., Lee-Kirsch, Min Ae, Lewandowski, Laura, Li, Suzanne, Lilleby, Vibke, Mammadova, Vafa, Moorthy, Lakshmi N., Nasrullayeva, Gulnara, O’Neil, Kathleen M., Onel, Karen, Ozen, Seza, Pan, Nancy, Pillet, Pascal, Piotto, Daniela G.P., Punaro, Marilynn G., Reiff, Andreas, Reinhardt, Adam, Rider, Lisa G., Rivas-Chacon, Rafael, Ronis, Tova, Rösen-Wolff, Angela, Roth, Johannes, Ruth, Natasha Mckerran, Rygg, Marite, Schmeling, Heinrike, Schulert, Grant, Scott, Christiaan, Seminario, Gisella, Shulman, Andrew, Sivaraman, Vidya, Son, Mary Beth, Stepanovskiy, Yuriy, Stringer, Elizabeth, Taber, Sara, Terreri, Maria Teresa, Tifft, Cynthia, Torgerson, Troy, Tosi, Laura, Van Royen-Kerkhof, Annet, Wampler Muskardin, Theresa, Canna, Scott W., Goldbach-Mansky, Raphaela
প্রকাশিত J Clin Invest (2020)