Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11

por Nguyen, Amie, Lu, Henry Y., Turvey, Stuart E., Snow, Andrew L.
Publicado 2023

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

por Lu, Henry Y., Bauman, Bradly M., Arjunaraja, Swadhinya, Dorjbal, Batsukh, Milner, Joshua D., Snow, Andrew L., Turvey, Stuart E.
Publicado 2018

Limitations of Qdot labelling compared to directly-conjugated probes for single particle tracking of B cell receptor mobility

por Abraham, Libin, Lu, Henry Y., Falcão, Rebeca Cardim, Scurll, Joshua, Jou, Timothy, Irwin, Brian, Tafteh, Reza, Gold, Michael R., Coombs, Daniel
Publicado 2017

Combination therapy with proteasome inhibitors and TLR agonists enhances tumour cell death and IL-1β production

por Tang, Anthony C, Rahavi, Seyed M, Fung, Shan-Yu, Lu, Henry Y, Yang, Hong, Lim, Chinten J, Reid, Gregor S, Turvey, Stuart E
Publicado 2018

Size-dependent anti-inflammatory activity of a peptide-gold nanoparticle hybrid in vitro and in a mouse model of acute lung injury

por Gao, Wei, Wang, Yulu, Xiong, Ye, Sun, Liya, Wang, Lu, Wang, Kun, Lu, Henry Y., Bao, Aihua, Turvey, Stuart E., Li, Qiang, Yang, Hong
Publicado 2019

Integrating knowledge of protein sequence with protein function for the prediction and validation of new MALT1 substrates

por Bell, Peter A., Scheuermann, Sophia, Renner, Florian, Pan, Christina L., Lu, Henry Y., Turvey, Stuart E., Bornancin, Frédéric, Régnier, Catherine H., Overall, Christopher M.
Publicado 2022

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant

por Jia, Alicia, James, Elliot, Lu, Henry Y., Sharma, Mehul, Modi, Bhavi P., Biggs, Catherine M., Hildebrand, Kyla J., Chomyn, Alanna, Erdle, Stephanie, Kular, Hasandeep, Turvey, Stuart E.
Publicado 2020

MALT1-Dependent Cleavage of HOIL1 Modulates Canonical NF-κB Signaling and Inflammatory Responsiveness

por Fung, Shan-Yu, Lu, Henry Y., Sharma, Mehul, Sharma, Ashish A., Saferali, Aabida, Jia, Alicia, Abraham, Libin, Klein, Theo, Gold, Michael R., Noterangelo, Luigi D., Overall, Christopher M., Turvey, Stuart E.
Publicado 2021

A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation

por Lu, Henry Y., Sertori, Robert, Contreras, Alejandra V., Hamer, Mark, Messing, Melina, Del Bel, Kate L., Lopez-Rangel, Elena, Chan, Edmond S., Rehmus, Wingfield, Milner, Joshua D., McNagny, Kelly M., Lehman, Anna, Wiest, David L., Turvey, Stuart E.
Publicado 2021

Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report

por Blanchard-Rohner, Geraldine, Ragotte, Robert J., Junker, Anne K., Sharma, Mehul, Del Bel, Kate L., Lu, Henry Y., Erdle, Stephanie, Chomyn, Alanna, Gill, Harinder, Tucker, Lori B., Schreiber, Richard A., Rozmus, Jacob, Biggs, Catherine M., Hildebrand, Kyla J., Wu, John, Stockler-Ipsiroglu, Sylvia, Turvey, Stuart E.
Publicado 2021

Genetic regulation of fetal hemoglobin across global populations

por Cato, Liam D., Li, Rick, Lu, Henry Y., Yu, Fulong, Wissman, Mariel, Mkumbe, Baraka S., Ekwattanakit, Supachai, Deelen, Patrick, Mwita, Liberata, Sangeda, Raphael, Suksangpleng, Thidarat, Riolueang, Suchada, Bronson, Paola G., Paul, Dirk S., Kawabata, Emily, Astle, William J., Aguet, Francois, Ardlie, Kristin, de Lapuente Portilla, Aitzkoa Lopez, Kang, Guolian, Zhang, Yingze, Nouraie, Seyed Mehdi, Gordeuk, Victor R., Gladwin, Mark T., Garrett, Melanie E., Ashley-Koch, Allison, Telen, Marilyn J., Custer, Brian, Kelly, Shannon, Dinardo, Carla Luana, Sabino, Ester C., Loureiro, Paula, Carneiro-Proietti, Anna Bárbara, Maximo, Cláudia, Méndez, Adriana, Hammerer-Lercher, Angelika, Sheehan, Vivien A., Weiss, Mitchell J., Franke, Lude, Nilsson, Björn, Butterworth, Adam S., Viprakasit, Vip, Nkya, Siana, Sankaran, Vijay G.
Publicado 2023

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

por Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren C.W., Pacillo, Lucia, James, Alyssa E., Murrell, Jill R., Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L., Lu, Henry Y., Chua, Gilbert T., Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P., Amodio, Donato, Tam, Issan Yee San, Chan, Gavin Shueng Wai, Sharma, Ashish A., Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A., Lee, Jessica J., Matthews, Allison, Seear, Michael, Turvey, Alexandra K., Philips, Rachael L., Brown-Whitehorn, Terri F., Gray, Christopher J., Izumi, Kosuke, Treat, James R., Wood, Kathleen H., Lack, Justin, Khleborodova, Asya, Niemela, Julie E., Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I., Yang, Jing, Chan, Koon Wing, Rosa Duque, Jaime Sou Da, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M., Morris, Emma C., Rosenzweig, Sergio D., O’Shea, John J., Wasserman, Wyeth W., Bedford, H. Melanie, van Karnebeek, Clara D.M., Palma, Paolo, Burns, Siobhan O., Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J., Parvaneh, Nima, Nguyen, Anh Thi Van, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L., Lau, Yu Lung, Béziat, Vivien, Turvey, Stuart E.
Publicado 2023