Search Results - "Rozmus, Jacob"

Monogenic Immune Diseases Provide Insights Into the Mechanisms and Treatment of Chronic Graft-Versus-Host Disease by Rozmus, Jacob

“…Chronic graft-versus-host disease (GvHD) has become a leading cause of morbidity and mortality following allogeneic hematopoietic stem cell transplantation…”
Get full text

Successful rescue transplant for children with primary graft failure using early intervention with a single day preparative regimen and related haploidentical donor by Subburaj, Divya, Li, Amanda M., Rozmus, Jacob, Schultz, Kirk R.

Get full text

Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report by Burroughs, Lauri M., Petrovic, Aleksandra, Brazauskas, Ruta, Liu, Xuerong, Griffith, Linda M., Ochs, Hans D., Bleesing, Jack J., Edwards, Stephanie, Dvorak, Christopher C., Chaudhury, Sonali, Prockop, Susan E., Quinones, Ralph, Goldman, Frederick D., Quigg, Troy C., Chandrakasan, Shanmuganathan, Smith, Angela R., Parikh, Suhag, Dávila Saldaña, Blachy J., Thakar, Monica S., Phelan, Rachel, Shenoy, Shalini, Forbes, Lisa R., Martinez, Caridad, Chellapandian, Deepak, Shereck, Evan, Miller, Holly K., Kapoor, Neena, Barnum, Jessie L., Chong, Hey, Shyr, David C., Chen, Karin, Abu-Arja, Rolla, Shah, Ami J., Weinacht, Katja G., Moore, Theodore B., Joshi, Avni, DeSantes, Kenneth B., Gillio, Alfred P., Cuvelier, Geoffrey D.E., Keller, Michael D., Rozmus, Jacob, Torgerson, Troy, Pulsipher, Michael A., Haddad, Elie, Sullivan, Kathleen E., Logan, Brent R., Kohn, Donald B., Puck, Jennifer M., Notarangelo, Luigi D., Pai, Sung-Yun, Rawlings, David J., Cowan, Morton J.

“…Wiskott-Aldrich syndrome (WAS) is an X-linked disease caused by mutations in the WAS gene, leading to thrombocytopenia, eczema, recurrent infections,…”
Get full text

NANS-mediated synthesis of sialic acid is required for brain and skeletal development by van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier-Daire, Valérie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heise, Torben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

“…Andrea Superti-Furga, Ron Wevers, Clara van Karnebeek, Luisa Bonafé and colleagues identify mutations in NANS , which encodes the sialic acid synthase, in nine…”
Get full text

C-terminal truncation of IFN-γ inhibits proinflammatory macrophage responses and is deficient in autoimmune disease by Dufour, Antoine, Bellac, Caroline L., Eckhard, Ulrich, Solis, Nestor, Klein, Theo, Kappelhoff, Reinhild, Fortelny, Nikolaus, Jobin, Parker, Rozmus, Jacob, Mark, Jennifer, Pavlidis, Paul, Dive, Vincent, Barbour, Sean J., Overall, Christopher M.

“…Controlled macrophage differentiation and activation in the initiation and resolution of inflammation is crucial for averting progression to chronic…”
Get full text

The CARD11-BCL10-MALT1 ( CBM ) signalosome complex: Stepping into the limelight of human primary immunodeficiency by Turvey, Stuart E., MBBS, DPhil, FRCPC, Durandy, Anne, MD, PhD, Fischer, Alain, MD, PhD, Fung, Shan-Yu, PhD, Geha, Raif S., MD, Gewies, Andreas, PhD, Giese, Thomas, MD, Greil, Johann, MD, Keller, Bärbel, MSc, McKinnon, Margaret L., MD, Neven, Bénédicte, MD, Rozmus, Jacob, MD, Ruland, Jürgen, MD, Snow, Andrew L., PhD, Stepensky, Polina, MD, Warnatz, Klaus, MD

“…Next-generation DNA sequencing has accelerated the genetic characterization of many human primary immunodeficiency diseases (PIDs). These discoveries can be…”
Get full text

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia by Tan, Ryan, Rozmus, Jacob, Turvey, Stuart E., Biggs, Catherine M.

Get full text

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases by Novice, Taylor, Kariminia, Amina, Del Bel, Kate L., Lu, Henry, Sharma, Mehul, Lim, Chinten J., Read, Jay, Lugt, Mark Vander, Hannibal, Mark C., O’Dwyer, David, Hosler, Mirie, Scharnitz, Thomas, Rizzo, Jason M, Zacur, Jennifer, Priatel, John, Abdossamadi, Sayeh, Bohm, Alexandra, Junker, Anne, Turvey, Stuart E., Schultz, Kirk R., Rozmus, Jacob

“…We report three new cases of a germline heterozygous gain-of-function missense (p.(Met1141Lys)) mutation in the C2 domain of phospholipase C gamma 2 (PLCG2)…”
Get full text

Combined immunodeficiency associated with homozygous MALT1 mutations by McKinnon, Margaret L., MD, Rozmus, Jacob, MD, Fung, Shan-Yu, PhD, Hirschfeld, Aaron F., MSc, Del Bel, Kate L., MSc, Thomas, Leah, BSc, Marr, Nico, Dr rer nat, Martin, Spencer D., BSc, Marwaha, Ashish K., BM, BCh, Priatel, John J., PhD, Tan, Rusung, MD, PhD, Senger, Christof, MD, Tsang, Angela, BSc, Prendiville, Julie, MD, Junker, Anne K., MD, Seear, Michael, MB, ChB, Schultz, Kirk R., MD, Sly, Laura M., PhD, Holt, Robert A., PhD, Patel, Millan S., MD, MSc, Friedman, Jan M., MD, PhD, Turvey, Stuart E., MBBS, DPhil

Get full text

Malt1 deficient mice develop osteoporosis independent of osteoclast‐intrinsic effects of Malt1 deficiency by Monajemi, Mahdis, Fisk, Shera, Pang, Yvonne C. F., Leung, Jessica, Menzies, Susan C., Ben‐Othman, Rym, Cai, Bing, Kollmann, Tobias R., Rozmus, Jacob, Sly, Laura M.

“…This study tested the hypothesis that mucosa associated lymphoid tissue 1 (Malt1) deficiency causes osteoporosis in mice by increasing osteoclastogenesis and…”
Get full text

"Age Related Differences in the Biology of Chronic Graft-Versus-Host Disease After Hematopoietic Stem Cell Transplantation" by Cuvelier, Geoff D E, Li, Amanda, Drissler, Sibyl, Kariminia, Amina, Abdossamadi, Sayeh, Rozmus, Jacob, Chanoine, Jean-Pierre, Ng, Bernard, Mostafavi, Sara, Brinkman, Ryan R, Schultz, Kirk R

“…It is established that pediatric hematopoietic stem cell transplant (HSCT) recipients have a lower rate of chronic graft-versus-host disease (cGvHD) compared…”
Get full text

The genotypic and phenotypic spectrum of PIGA deficiency by Tarailo-Graovac, Maja, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot, Rozmus, Jacob, Shyr, Casper, Biancheri, Roberta, Oh, Tracey, Sayson, Bryan, Lafek, Mirafe, Ross, Colin J, Robinson, Wendy P, Wasserman, Wyeth W, Rossi, Andrea, van Karnebeek, Clara D M

“…Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor…”
Get full text

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination by IJspeert, Hanna, Rozmus, Jacob, Schwarz, Klaus, Warren, René L., van Zessen, David, Holt, Robert A., Pico-Knijnenburg, Ingrid, Simons, Erik, Jerchel, Isabel, Wawer, Angela, Lorenz, Myriam, Patıroğlu, Turkan, Akar, Himmet Haluk, Leite, Ricardo, Verkaik, Nicole S., Stubbs, Andrew P., van Gent, Dik C., van Dongen, Jacques J.M., van der Burg, Mirjam

“…Repair of DNA double-strand breaks (DSBs) by the nonhomologous end-joining pathway (NHEJ) is important not only for repair of spontaneous breaks but also for…”
Get full text

Somatic Activation of Oncogenic Kras in Hematopoietic Cells Initiates a Rapidly Fatal Myeloproliferative Disorder by Braun, Benjamin S., Tuveson, David A., Kong, Namie, Le, Doan T., Kogan, Scott C., Rozmus, Jacob, Le Beau, Michelle M., Jacks, Tyler E., Shannon, Kevin M.

“…RAS mutations are common in myeloid malignancies; however, it is not known whether oncogenic RAS can initiate leukemia. We show that expressing mutant…”
Get full text

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

“…KRAS (KRAS proto-oncogene, GTPase; OMIM: 190,070) encodes one of three small guanosine triphosphatase proteins belonging to the RAS family. This group of…”
Get full text

Is It Possible to Separate the Graft-Versus-Leukemia (GVL) Effect Against B Cell Acute Lymphoblastic Leukemia From Graft-Versus-Host Disease (GVHD) After Hematopoietic Cell Transplant? by Rozmus, Jacob, Bhatt, Sima T, Buxbaum, Nataliya Prokopenko, Cuvelier, Geoffrey D E, Li, Amanda M, Kitko, Carrie L, Schultz, Kirk R

“…Hematopoietic cell transplant is a curative therapy for many pediatric patients with high risk acute lymphoblastic leukemia. Its therapeutic mechanism is…”
Get full text

Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study by Rozmus, Jacob, Junker, Anne, Thibodeau, Melanie Laffin, Grenier, Danielle, Turvey, Stuart E., Yacoub, Wadieh, Embree, Joanne, Haddad, Elie, Langley, Joanne M., Ramsingh, Rose Marie, Singh, Veeran-Anne, Long, Richard, Schultz, Kirk R.

“…Purpose Severe Combined Immune Deficiency (SCID) is universally fatal unless treated with hematopoietic stem cell transplantation (HSCT). Following the…”
Get full text

Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation by Biggs, Catherine M, Cordeiro-Santanach, Anna, Prykhozhij, Sergey V, Deveau, Adam P, Lin, Yi, Del Bel, Kate L, Orben, Felix, Ragotte, Robert J, Saferali, Aabida, Mostafavi, Sara, Dinh, Louie, Dai, Darlene, Weinacht, Katja G, Dobbs, Kerry, Ott de Bruin, Lisa, Sharma, Mehul, Tsai, Kevin, Priatel, John J, Schreiber, Richard A, Rozmus, Jacob, Hosking, Martin Ck, Shopsowitz, Kevin E, McKinnon, Margaret L, Vercauteren, Suzanne, Seear, Michael, Notarangelo, Luigi D, Lynn, Francis C, Berman, Jason N, Turvey, Stuart E

“…Primary atopic disorders are a group of inborn errors of immunity that skew the immune system toward severe allergic disease. Defining the biology underlying…”
Get full text

CD56bright natural killer regulatory cells in filgrastim primed donor blood or marrow products regulate chronic graft-versus-host disease: the Canadian Blood and Marrow Transplant Group randomized 0601 study results by Kariminia, Amina, Ivison, Sabine, Ng, Bernard, Rozmus, Jacob, Sung, Susanna, Varshney, Avani, Aljurf, Mahmoud, Lachance, Sylvie, Walker, Irwin, Toze, Cindy, Lipton, Jeff, Lee, Stephanie J, Szer, Jeff, Doocey, Richard, Lewis, Ian, Smith, Clayton, Chaudhri, Naeem, Levings, Megan K, Broady, Raewyn, Devins, Gerald, Szwajcer, David, Foley, Ronan, Mostafavi, Sara, Pavletic, Steven, Wall, Donna A, Couban, Stephan, Panzarella, Tony, Schultz, Kirk R

“…Randomized trials have conclusively shown higher rates of chronic graft-versus-host disease with filgrastim-stimulated apheresis peripheral blood as a donor…”
Get full text

Herpes Simplex Virus Triggers and Then Disarms a Host Antiviral Response by Mossman, K L, Macgregor, P F, Rozmus, J J, Goryachev, A B, Edwards, A M, Smiley, J R

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
Get full text