Academic literature on the topic 'HIGM1'

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Journal articles on the topic "HIGM1"

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Takada, Yoko K., Michiko Shimoda та Yoshikazu Takada. "CD40L Activates Platelet Integrin αIIbβ3 by Binding to the Allosteric Site (Site 2) in a KGD-Independent Manner and HIGM1 Mutations Are Clustered in the Integrin-Binding Sites of CD40L". Cells 12, № 15 (2023): 1977. http://dx.doi.org/10.3390/cells12151977.

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CD40L is expressed in activated T cells, and it plays a major role in immune response and is a major therapeutic target for inflammation. High IgM syndrome type 1 (HIGM1) is a congenital functional defect in CD40L/CD40 signaling due to defective CD40L. CD40L is also stored in platelet granules and transported to the surface upon platelet activation. Platelet integrin αIIbβ3 is known to bind to fibrinogen and activation of αIIbβ3 is a key event that triggers platelet aggregation. Also, the KGD motif is critical for αIIbβ3 binding and the interaction stabilizes thrombus. Previous studies showed
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Vavassori, Valentina, Elisabetta Mercuri, Genni Marcovecchio, et al. "Towards Clinical Translation of Hematopoietic Cell Gene Editing for Treating Hyper-IgM Type 1." Blood 138, Supplement 1 (2021): 3978. http://dx.doi.org/10.1182/blood-2021-148572.

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Abstract Hyper-IgM Type 1 (HIGM1) is caused by mutations of CD40L, whose absence in CD4 T cells impairs signaling for B cell activation and Ig class-switching. Since unregulated CD40L expression leads to lymphoproliferations/lymphomas in the mouse model of the disease, gene correction must preserve the physiological regulation of the gene. Gene editing of either autologous T cells or hematopoietic stem cells (HSC) held promise for treating HIGM1. We developed a "one size fits all" editing strategy to insert a 5'-truncated corrective CD40L cDNA in the first intron of the native human gene, effe
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Callard, R. E., S. H. Smith, J. Herbert, et al. "CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers." Journal of Immunology 153, no. 7 (1994): 3295–306. http://dx.doi.org/10.4049/jimmunol.153.7.3295.

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Abstract Hyper-IgM syndrome is a rare immunodeficiency characterized by low or absent IgG, IgA, and IgE with normal or elevated levels of IgM. It can occur as an acquired or familial disorder with either X-linked or autosomal modes of inheritance. The X-linked form (HIGM1) is a result of mutations in the CD40 ligand (CD40L) gene, but the defect in non-X-linked forms of the disease (HIM) has not been determined. We show here that CD40L expression on activated T cells from non-X-linked patients can be detected by CD40Fc, 5c8 Mab, and anti-TRAP, whereas activated T cells from HIGM1 patients eithe
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Shimoda, Michiko, Yoko Takada, Emanual Maverakis, Brunhilde Felding, and Yoshikazu Takada. "CD40L acts as an allosteric activator of integrins for signal transduction independent of inside-out signaling." Journal of Immunology 206, no. 1_Supplement (2021): 24.04. http://dx.doi.org/10.4049/jimmunol.206.supp.24.04.

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Abstract CD40L plays a major role in immune response and is a target for inflammatory disease therapy. Besides CD40, CD40L binds to several integrins but their role in signaling is unclear. We showed that integrins αvβ3 and α5β1 bind to the CD40L trimeric interface through classical ligand binding site of integrins (site 1). Several CD40L mutants from HIGM1 (hyper-IgM syndrome type 1) patients were clustered in trimeric interface and defective in integrin binding, and in NF-κB and B cell activation, but still bound CD40 and acted as antagonists of CD40L signaling. Thus, integrins play a critic
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Life, P., J. F. Gauchat, V. Schnuriger, et al. "T cell clones from an X-linked hyper-immunoglobulin (IgM) patient induce IgE synthesis in vitro despite expression of nonfunctional CD40 ligand." Journal of Experimental Medicine 180, no. 5 (1994): 1775–84. http://dx.doi.org/10.1084/jem.180.5.1775.

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The induction of immunoglobulin E (IgE) switching in B cells requires at least two signals. The first is given by either of the soluble lymphokines interleukin 4 (IL-4) or IL-13, whereas the second is contact dependent. It has been widely reported that a second signal can be provided by the CD40 ligand (CD40L) expressed on the surface of T cells, mast cells, and basophils. A defect in the CD40L has been shown recently to be responsible for the lack of IgE, IgA, and IgG, characteristic of the childhood X-linked immunodeficiency, hyper IgM syndrome (HIGM1). IgE can however be detected in the ser
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Padayachee, M., R. J. Levinsky, C. Kinnon, et al. "Mapping of the X linked form of hyper IgM syndrome (HIGM1)." Journal of Medical Genetics 30, no. 3 (1993): 202–5. http://dx.doi.org/10.1136/jmg.30.3.202.

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Kroczek, Richard A., Daniel Graf, Duilio Brugnoni, et al. "Defective Expression of CD40 Ligand on T Cells Causes "X-Linked Immunodeficiency with Hyper-IgM (HIGM1)"." Immunological Reviews 138, no. 1 (1994): 39–59. http://dx.doi.org/10.1111/j.1600-065x.1994.tb00846.x.

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Padayachee, M., C. Feighery, A. Finn, et al. "Mapping of the x-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT." Genomics 14, no. 2 (1992): 551–53. http://dx.doi.org/10.1016/s0888-7543(05)80270-8.

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Hollenbaugh, D., L. H. Wu, H. D. Ochs, et al. "The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1." Journal of Clinical Investigation 94, no. 2 (1994): 616–22. http://dx.doi.org/10.1172/jci117377.

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Fontana, Stefania, Daniele Moratto, Surinder Mangal, et al. "Functional defects of dendritic cells in patients with CD40 deficiency." Blood 102, no. 12 (2003): 4099–106. http://dx.doi.org/10.1182/blood-2003-04-1244.

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Abstract We have recently identified 2 patients with a rare autosomal recessive form of hyper IgM disease, known as HIGM3, caused by mutations in the CD40 gene. These patients had opportunistic infections observed on X-linked hyper IgM syndrome (HIGM), suggesting that the CD40-CD40 ligand interaction is important for promoting T-cell-mediated immunity. To evaluate whether innate immunity signals may substitute CD154 for inducing the maturation of dendritic cells (DCs), we analyzed monocyte-derived DCs in these patients. Monocyte-derived DCs of HIGM3 subjects on ex vivo stimulation with tumor n
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Dissertations / Theses on the topic "HIGM1"

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MERCURI, ELISABETTA. "PRECLINICAL MODELING HIGHLIGHTS THE THERAPEUTIC POTENTIAL OF THE ADOPTIVE TRANSPLANT OF GENE CORRECTED T CELLS IN X-LINKED HYPER-IGM IMMUNODEFICIENCY." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2020. http://hdl.handle.net/10281/263922.

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La terapia genica di cellule staminali ematopoietiche (HSC) ha prodotto benefici clinici in diversi pazienti affetti da una varietà di malattie genetiche. Tuttavia, l’uso di vettori che si integrano nel genoma in modo semi-casuale pone il rischio di mutagenesi inserzionale e di una espressione del transgene ectopica/non regolata. Quest’ultimo problema è particolarmente rilevante quando si trattano geni strettamente regolati attivi sulla proliferazione cellulare, come il gene CD40LG, la cui espressione sulle cellule T attivate porta all’attivazione contatto-dipendente delle cellule B, alla loro
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Pereira, Renato de Pontes. "HIGMN : an IGMN-based hierarchical architecture and its applications for robotic tasks." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2013. http://hdl.handle.net/10183/80752.

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O recente campo de Deep Learning introduziu a área de Aprendizagem de Máquina novos métodos baseados em representações distribuídas e abstratas dos dados de treinamento ao longo de estruturas hierárquicas. A organização hierárquica de camadas permite que esses métodos guardem informações distribuídas sobre os sinais sensoriais e criem conceitos com diferentes níveis de abstração para representar os dados de entrada. Este trabalho investiga o impacto de uma estrutura hierárquica inspirada pelas ideias apresentadas em Deep Learning, e com base na Incremental Gaussian Mixture Network (IGMN), uma
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Parmar, Gaganvir. "Protein Factors Regulating Mitochondrial Respiratory Supercomplexes." Thesis, Université d'Ottawa / University of Ottawa, 2021. http://hdl.handle.net/10393/42350.

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Berger, Bettina [Verfasser]. "The role of HIG1/MYB51 in the regulation of indolic glucosinolate biosynthesis / vorgelegt von Bettina Berger." 2007. http://d-nb.info/985441240/34.

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Book chapters on the topic "HIGM1"

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Lukas, Thomas J., Daniela V. Rosa, Luiz Alexandre V. Magno, et al. "Dfp1/Him1/Rad35 (Schizosaccharomyces pombe), Spo6 (a Second Dbf4 Homologue in S. pombe)." In Encyclopedia of Signaling Molecules. Springer New York, 2012. http://dx.doi.org/10.1007/978-1-4419-0461-4_100350.

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"Dfp1/Him1/Rad35 (Schizosaccharomyces pombe)." In Encyclopedia of Signaling Molecules. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-67199-4_100987.

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Geha, Raif S., Alessandro Plebani, and Luigi D. Notarangelo. "CD40, CD40 Ligand, and the Hyper-IgM Syndrome." In Primary Immunodeficiency Diseases. Oxford University PressNew York, NY, 2006. http://dx.doi.org/10.1093/oso/9780195147742.003.0019.

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Abstract Immunodeficiency with hyper-IgM (HIGM) is a rare congenital disorder, characterized by recurrent infections and very low levels of serum IgG, IgA, and IgE, with normal or elevated IgM (Notarangelo et al., 1992). Both primary and acquired forms of the disease have been reported. Among primary HIGM, X-linked (Krantman et al., 1980; Benkerrou et al., 1990), autosomal recessive (Pascual-Salcedo et al., 1983; Benkerrou et al., 1990; Revy et al., 2000; Ferrari et al., 2001, Imai et al., 2003b), and possibly autosomal dominant (Beall et al., 1980; Brahmi et al., 1983) variants are known, acc
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Russo, Barbara, Marco Scotto, Alberto Sillitti, and Giancarlo Succi. "Coordination in Agile and Open Source." In Agile Technologies in Open Source Development. IGI Global, 2010. http://dx.doi.org/10.4018/978-1-59904-681-5.ch005.

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Although the situation in the software industry is improved in the last years, the percentage of software project cancelled 18%, or challenged (late, over budget, and with less than the required features) 53% is still high1. Researchers and practitioners are looking for the magic solution or the silver bullet that will allow software companies to overcome the software crisis (Brooks, 1987). New development approaches like AMs and OSD models are some of the solutions identified (Feller & Fitzgerald, 2002; Abrahamsson et al., 2003). One critical problem in software development consist of coo
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"Hyper-IgM Syndrome (HIGM, HIM, X-linked immunodeficiency with hyper IgM)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_8050.

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"This Group of Primary Antibody Deficiencies Are also Known as Hyper IgM Syndromes (HIGMs)." In Encyclopedia of Medical Immunology. Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4614-8678-7_300350.

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Durandy, Anne, Patrick Revy, and Alain Fischer. "Autosomal Hyper-IgM Syndromes Caused by an Intrinsic B Cell Defect." In Primary Immunodeficiency Diseases. Oxford University PressNew York, NY, 2006. http://dx.doi.org/10.1093/oso/9780195147742.003.0020.

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Abstract The study of inherited hyper-IgM syndromes (HIGM) has greatly contributed to our understanding of the normal processes of antibody maturation, because these syndromes have in common a defect in immunoglobulin (Ig) class switch recombination (CSR), as demonstrated by normal or elevated serum IgM levels. This is in contrast to absent or strongly decreased levels of the other immunoglobulin (Ig) isotypes. Antibody maturation leads to the production of antibodies of different isotypes and formation of B cell receptors (BCR) with high affinity for antigen. This event usually takes place in
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Conference papers on the topic "HIGM1"

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Eyres, L. A., C. B. Ebert, J. S. Harris, M. M. Fejer, and H. C. Chui. "Fabrication of GaAs Orientation Template Substrates for Quasi-Phasematched Guided-Wave Nonlinear Optics." In Nonlinear Guided Waves and Their Applications. Optica Publishing Group, 1995. http://dx.doi.org/10.1364/nlgw.1995.nfc3.

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Quasi-phasematched nonlinear optical frequency conversion in waveguides is a flexible and efficient technique for generating visible and infrared radiation from low-power near infrared diode lasers. While demonstrated conversion efficiencies have been high1-3, a formidable difficulty remains in the path of widespread implementation of waveguide frequency conversion techniques. The separately fabricated diode lasers and nonlinear waveguides must be aligned together to sub-micron tolerances with high yield and excellent long-term reliability. Monolithic integration of diode lasers and nonlinear
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Blumencranz, LE, SC Shivers, S. Untch, et al. "Abstract P5-16-05: MINT trial yields MammaPrint High1/High2 risk classes associated with significant differences in pCR and receptor subtype." In Abstracts: 2016 San Antonio Breast Cancer Symposium; December 6-10, 2016; San Antonio, Texas. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.sabcs16-p5-16-05.

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Wolf, Denise M., Christina Yau, Lamorna Brown-Swigart, et al. "Abstract 859: Gene and pathway differences between MammaPrint High1/High2 risk classes: results from the I-SPY 2 TRIAL in breast cancer." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-859.

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Yau, Christina, Denise M. Wolf, Ashish Sanil, et al. "Abstract P3-06-29: MammaPrint High1/High2 risk class as a biomarker of response to neratinib plus standard neoadjuvant therapy for breast cancer in the I-SPY 2 TRIAL." In Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium; December 9-13, 2014; San Antonio, TX. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.sabcs14-p3-06-29.

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Wolf, Denise M., Christina Yau, Ashish Sanil, et al. "Abstract P3-06-25: MammaPrint High1/High2 risk class as a biomarker of response to veliparib/carboplatin plus standard neoadjuvant therapy for breast cancer in the I-SPY 2 TRIAL." In Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium; December 9-13, 2014; San Antonio, TX. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.sabcs14-p3-06-25.

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Wolf, DM, C. Yau, A. Sanil, et al. "Abstract S2-06: DNA repair deficiency biomarkers and MammaPrint high1/(ultra)high2 risk as predictors of veliparib/carboplatin response: Results from the neoadjuvant I-SPY 2 trial for high risk breast cancer." In Abstracts: 2016 San Antonio Breast Cancer Symposium; December 6-10, 2016; San Antonio, Texas. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.sabcs16-s2-06.

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