Receptor mutations leukemia. Medical search. Frequent questions

Lung cancer with epidermal growth factor receptor (EGFR)-activating mutations responds favorably to the EGFR tyrosine kinase inhibitors gefitinib and erlotinib. (aacrjournals.org)
The discovery of epidermal growth factor receptor (EGFR) mutations in never-smokers has been the most relevant finding ever in non-small cell lung cancer. (aacrjournals.org)
PURPOSE: Patritumab deruxtecan, or HER3-DXd, is an antibody-drug conjugate consisting of a fully human monoclonal antibody to human epidermal growth factor receptor 3 (HER3) attached to a topoisomerase I inhibitor payload via a stable tetrapeptide-based cleavable linker. (bvsalud.org)
We assessed the efficacy and safety of HER3-DXd in patients with epidermal growth factor receptor (EGFR)-mutated non-small-cell lung cancer (NSCLC). (bvsalud.org)

Among activating class III receptor tyrosine kinase (Flt3) mutations, internal tandem duplications of Flt3 (Flt3-ITD) are detected in about 25% of patients with acute myeloid leukemia (AML). (nih.gov)
The mutations are most commonly internal tandem duplications found in the juxtamembrane domain of the FLT3 receptor. (northwestern.edu)

The agricultural use of triazole fungicides, a practice that recently increased 4-fold in the United States, can select for A. fumigatus strains harboring unique CYP51A gene mutations, such as TR 34 /L98H and TR 46 /Y121F/T289A, that can cause pan-triazole resistance in patients ( 5 , 6 ). (cdc.gov)
Defining the role of signaling gene mutations during progression should provide biologic insight into clonal evolution and help define prognostic markers for MDS progression. (confex.com)
This was significantly less than the percentage of sAML transcription factor gene mutations present at MDS (17 of 23, 74%, p=0.006). (confex.com)
We used eWGS data to define clonal hierarchies for 12 patients, and found that both signaling and transcription factor gene mutations were in subclones (9 of 9, and 7 of 8 clones, respectively), with signaling gene mutations occurring as terminal events during clonal evolution. (confex.com)
Finally, 8 of 9 subclones with signaling gene mutations expanded at progression. (confex.com)
1% VAF) signaling gene mutations were present in MDS samples. (confex.com)
Combined with sAML-defined signaling genes, 33 total signaling gene mutations were detected at MDS in 19 patients, but only 11 (33%) were present after progression. (confex.com)
Impact of the Types and Relative Quantities of IGHV Gene Mutations in Predicting Prognosis of Patients With Chronic Lymphocytic Leukemia. (cdc.gov)

Functional studies indicated that these mutations alter the stability of LIFR messenger RNA transcripts, resulting in the absence of the LIFR protein and in the impairment of the JAK/STAT3 signaling pathway in patient cells. (tau.ac.il)
Here, we showed that hepatocyte growth factor (HGF), a ligand of MET oncoprotein, induces gefitinib resistance of lung adenocarcinoma cells with EGFR -activating mutations by restoring the phosphatidylinositol 3-kinase/Akt signaling pathway via phosphorylation of MET, but not EGFR or ErbB3. (aacrjournals.org)
KEGG enrichment and gene set enrichment analysis (GSEA) showed that a large number of genes were enriched in inflammatory immune-related pathways, such as the toll-like receptor signaling pathway. (frontiersin.org)
Finally, we studied the effects of arsenide trioxide and 5-azacitidine on the proliferation of leukemia cells and the TGF- β signaling pathway. (hindawi.com)
At the same time, arsenide trioxide and 5-azacitidine are associated with the inhibition of cellular proliferation of acute leukemia cells and also promote the elevated expression of TGF- β signaling pathway-linked proteins, including TGF- β , Smad2, Smad3, and Smad4. (hindawi.com)

Through studying a series of 19 families with SWS/SJS2, we have mapped the disease gene to chromosome 5p13.1 at locus D5S418 (Z max = 10.66 at θ = 0) and have identified null mutations in the leukemia inhibitory factor receptor (LIFR or gp190 chain) gene. (tau.ac.il)
It is now known that type II relates to a mutation in a different gene, the gene for the leukemia inhibitory factor receptor ( LIFR ). (medscape.com)
It relieved the inhibitory effect of DNMT3A mutation, promoted the phenotypic recovery of the co-cultured macrophages, eliminated resistance, and regulated the immune microenvironment. (frontiersin.org)
The IL-6 family of cytokines includes IL-6, ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), oncostatin M (OSM), cardiotrophin-1, and IL-11. (bl.uk)

Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome . (medscape.com)
Familial predisposition specific to leukemia is uncommon but has resulted in the identification of predisposing non-silent variants that are also observed in sporadic ALL cases, including TP53 germline mutations and low hypodiploid B-ALL, ETV6 variants and hyperdiploid ALL, and PAX5 mutations and B-ALL with dicentric/isochromosome 9. (haematologica.org)
TP53 gene defects represent the most unfavorable prognostic factor in chronic lymphocytic leukemia (CLL). (muni.cz)
Although recently introduced small-molecule B-cell receptor signalling inhibitors have revolutionized CLL treatment, data for ibrutinib still point to impaired prognosis for TP53-affected patients. (muni.cz)
Among cancer-associated TP53 mutations, missense substitutions predominate and typically result in a high mutated-p53 protein level. (muni.cz)
Therefore, rescuing the p53 tumor suppressor function through specific small molecules restoring p53 wild-type (wt) conformation represents an attractive therapeutic strategy for cancer patients with TP53 missense mutations. (muni.cz)
We tested the effect of mutated-p53 reactivating molecule PRIMA-1(MET) in 62 clinical CLL samples characterized for TP53 mutations and p53 protein level. (muni.cz)
Clonal evolution in chronic lymphocytic leukemia is associated with an unmutated IGHV status and frequently leads to a combination of loss of TP53 and TP53 mutation. (cdc.gov)
TP53-altered chronic lymphocytic leukemia treated with firstline Bruton's tyrosine kinase inhibitor-based therapy: A retrospective analysis. (cdc.gov)

Cell activation by G-CSF is mediated by a type I membrane protein belonging to the cytokine receptor superfamily. (rndsystems.com)
We identified a recurrent and oncogenic hotspot gain-of-function mutation in myeloid cytokine receptor CSF2RB. (ox.ac.uk)

CML with the T315I mutation has been considered to have poor prognosis. (jcancer.org)
DNA (cytosine-5)-methyltransferase 3A (DNMT3A)-mutated acute myeloid leukemia (AML) has a poor prognosis, but the exact mechanism is still unclear. (frontiersin.org)
Our present research is aimed at studying the abnormal expression of GRHL2 and the association of methylation in patients with acute leukemia and its relationship with prognosis. (hindawi.com)
We analyzed the significant correlation between the expression level of GRHL2 with clinicopathological features and patients' prognosis in acute leukemia using the corresponding statistical methods. (hindawi.com)
Increased expression and methylation level of GRHL2 are closely associated with the prognosis and malignant phenotype of acute leukemia patients and play an irreplaceable role in the occurrence and development of patients with acute leukemia. (hindawi.com)
Recurrent mutations in the gene encoding additional sex combs-like 1 ( ASXL1 ) are found in various hematologic malignancies and associated with poor prognosis. (jci.org)
The presence of a FLT3 mutation confers a poorer prognosis in disease-free survival and overall survival. (northwestern.edu)
A Ferroptosis Molecular Subtype-Related Signature for Predicting Prognosis and Response to Chemotherapy in Patients with Chronic Lymphocytic Leukemia. (cdc.gov)
del(8p) and TNFRSF10B loss are associated with a poor prognosis and resistance to fludarabine in chronic lymphocytic leukemia. (cdc.gov)
The term acute myeloid leukemia (AML) collectively refers to a mixture of distinct diseases that differ with regard to their pathogenetic evolution, genetic abnormalities, clinical features, response to therapy, and prognosis. (ashpublications.org)

Chronic myeloid leukemia (CML) results from BCR-ABL oncogene, which blocks CML cells differentiation and protects these cells from apoptosis. (jcancer.org)
Chronic myeloid leukemia (CML) is a clonal expansion of the progenitor hematopoietic stem cells arising from the existence of the fusion BCR-ABL oncogene, that represents 15%-20% of the newly diagnosed cases of leukemia patients [ 1 - 2 ]. (jcancer.org)
The male patient was 65 years of age and previously underwent chimeric antigen receptor T-cell therapy for acute myeloid leukemia. (cdc.gov)
In the presence of RAS-pathway mutations, GM-CSF contributes to the hyperproliferation of myelocytes in myelodysplastic leukemias such as CMML, juvenile myelomonocytic leukemia (JMML), and acute myeloid leukemia (AML).6,7,8 Therefore, lenzilumab's ability to prevent GM-CSF binding to its receptor may inhibit the hyperproliferation in these conditions. (biospace.com)
Acute myeloid leukemia (AML) is a common, heterogeneous, and aggressive hematopoietic malignancy, characterized by apparent genetic abnormalities ( 1 ). (frontiersin.org)
ABSTRACTBackgroundAcute myeloid leukemia (AML) is a life-threatening disease whose treatment is made difficult by a number of mutations or receptor overexpression in the proliferating cellular clones. (journaltocs.ac.uk)
Previous studies indicate that mutations in signaling (e.g., receptor tyrosine kinases and RAS pathway members) and transcription factor genes are more common in secondary acute myeloid leukemia (sAML) than myelodysplastic syndrome (MDS), suggesting a role in disease progression. (confex.com)
G-CSF R is expressed in mature neutrophils, neutrophilic precursors, myeloid leukemia cells, and placenta. (rndsystems.com)
FLT3 is mutated in approximately one-third of cases of acute myeloid leukemia (AML) with normal karyotype. (northwestern.edu)
In addition, the research will expand therapeutic potential of HT-KIT for the treatment of other cancers where aberrant cKIT signaling contributes to the cancer progression, such as gastrointestinal stromal tumors (GIST) and acute myeloid leukemia (AML). (reachmd.com)
A man who was living with HIV was also diagnosed with acute myeloid leukemia, a type of cancer, and underwent a stem cell transplant in Berlin, Germany. (worldhealth.net)
Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. (antikoerper-online.de)
Deregulation of these receptors by mutations has been implicated in various human malignancies, including akut myeloid leukemia and melanoma. (lu.se)
Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome. (ox.ac.uk)
Myeloid leukemia in Down syndrome (ML-DS) clonally evolves from transient abnormal myelopoiesis (TAM), a preleukemic condition in DS newborns. (ox.ac.uk)
The therapeutic approach to the patient with acute myeloid leukemia (AML) currently evolves toward new frontiers. (ashpublications.org)
Mutated Nucleophosmin 1 (NPM1) is the most common genetic alteration in acute myeloid leukemia (AML), found in approximately 30% of cases. (lu.se)
FLT3N676K drives acute myeloid leukemia in a xenograft model of KMT2A-MLLT3 leukemogenesis. (lu.se)

In summary, we demonstrate new methodological approaches for rapid screening of Flt3 point mutations and for detection of MRD based on patient-specific Flt3-TKD mutations. (nih.gov)
There are also cases of point mutations within the tyrosine kinase domain. (northwestern.edu)

The interleukin-7 receptor is a protein found on the surface of cells. (wikipedia.org)
It is made up of two different smaller protein chains - i.e. it is a heterodimer, and consists of two subunits, interleukin-7 receptor-α (CD127) and common-γ chain receptor (CD132). (wikipedia.org)
Interleukin-7 receptor is expressed on various cell types, including naive and memory T cells and many others. (wikipedia.org)
Interleukin-7 receptor has been shown to play a critical role in the development of immune cells called lymphocytes - specifically in a process known as V(D)J recombination[citation needed]. (wikipedia.org)
Several diseases are associated with Interleukin-7 receptor including T-cell acute lymphoblastic leukaemia, multiple sclerosis, rheumatoid arthritis and juvenile idiopathic arthritis. (wikipedia.org)

It is believed that the occurrence of leukemia is the result of genetic and epigenetic changes in protooncogene and tumor suppressor genes [ 8 ]. (hindawi.com)
CRLF2 alterations are associated with the presence of activating mutations in the JAK genes JAK1 and JAK2 (Russell et al. (atlasgeneticsoncology.org)
However, our understanding of the timing and order of mutation acquisition in these genes remains incomplete without analyzing paired MDS and sAML samples from the same patient. (confex.com)
Additionally, error-corrected sequencing for all sAML RMG mutations, plus 40 additional genes, was performed on 43 of the MDS samples. (confex.com)
Both transplants relied on selecting donors who had this mutation in their genes , so were resistant to HIV. (forbes.com)
Loss of 18 different genes produced leukemias that phenotypically, genetically, and transcriptionally mirrored ML-DS. (ox.ac.uk)

In a second project, I am performing a series of in vitro experiments to functionally validate recurrent mutations as therapeutic targets in CLL. (sanger.ac.uk)

Infiltration, accumulation, and survival of chimeric antigen receptor T (CAR-T) cells in solid tumors is crucial for tumor clearance. (nature.com)
The efficacy of cellular or humoral immunotherapy has been demonstrated with the success of chimeric antigen receptor T-cell therapy and the bispecific engager blinatumomab in treating advanced disease. (haematologica.org)
Chen has also earned two grants from the National Institutes of Health (NIH) to develop a new biosensor to examine T-cells engineered with special proteins called chimeric antigen receptors (CAR). (nyu.edu)

The common γ-chain receptor cytokines are promising immune therapies due to their central role in coordinating the proliferation and activity of various immune cell populations. (biorxiv.org)
Cytokines that bind to the common γ-chain (γ c ) receptor, including interleukin (IL)-2, 4, 7, 9, 15, and 21, are a critical hub in modulating both innate and adaptive immune responses ( 1 ) . (biorxiv.org)
A prominent phenotypic outcome of γ c receptor signaling is lymphoproliferation, and so the cytokines are often observed to be an endogenous or exogenous mechanism for altering the balance of immune cell types. (biorxiv.org)
Interestingly, both the ATAC regions, which showed a significant decrease in accessibility in PDXs and the regions hypermethylated in PDXs, were associated with immune response, which might reflect the immune deficiency of the mice and potentially the incomplete interaction between murine cytokines and human receptors. (uzh.ch)

In retroviral infection, a virus infects a new host through receptor proteins on cells at the infection site, much like a key fits into a lock. (fredhutch.org)

Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. (nih.gov)
Whole-genome and Epigenomic Landscapes of Malignant Gastrointestinal Stromal Tumors Harboring KIT Exon 11 557-558 Deletion Mutations. (nih.gov)
When patients whose tumors bear the sensitizing mutations are treated with the tyrosine kinase inhibitors gefitinib or erlotinib, we witness response rates and durations never before reported, including complete responses. (aacrjournals.org)
This has led to the question of whether EGFR remains a viable target in patients other than those whose tumors contain mutations, and whether the modest activity of cetuximab in colorectal cancer and head and neck cancer represents all that we can expect from inhibition of this pathway in the absence of mutation. (aacrjournals.org)
Mutations in the KIT pathway have been associated with several human cancers, such as gastrointestinal stromal tumors and mast cell-derived cancers (mast cell leukemia and mast cell sarcoma). (reachmd.com)

Additionally, two androgen receptor mutations derived from patients with advanced disease were analyzed for promiscuous transactivation activity. (springer.com)
The androgen receptor mutations AR 877 and AR 715 displayed a 37.5- and 5.2-fold increase in transactivation activity by progesterone and a 12.6- and 5.4-fold increase by estrogen compared to the AR WT , respectively. (springer.com)
We showed evidence that co-medication with dexamethasone/prednisolone and/or estramustine itself can induce an initial PSA flare-up via androgen receptor mutations. (springer.com)

1999 ]. Germline mutations in PTPN11 lead to Noonan syndrome associated with JMML, and somatic PTPN11 mutations are associated with isolated JMML [Tartaglia et al. (lu.se)

We evaluated a new approach for rapid screening of Flt3-TKD and Flt3-V592A mutations using the fluorescence resonance energy transfer (FRET) principle in a group of 122 patients. (nih.gov)
However, 25% to 30% of patients with EGFR -activating mutations show intrinsic resistance, and the responders invariably acquire resistance to gefitinib. (aacrjournals.org)
We used quantitative real-time polymerase chain reaction (qRT-PCR) for detecting the aberrant expression level of GRHL2 in 60 patients with acute leukemia and 60 normal controls. (hindawi.com)
We found a lower level of GRHL2 expression not only in acute leukemia patients but also in cell lines when compared with normal controls. (hindawi.com)
At the same time, the expression level of GRHL2 in patients with acute leukemia was significantly correlated with leukocyte count, platelet count, and cytogenetic risk grouping. (hindawi.com)
In addition, the lower GRHL2 expression group showed a significantly lower overall survival rate in acute leukemia patients than that of patients with a higher GRHL2 expression group. (hindawi.com)
Univariate and multivariate analyses revealed that the expression of GRHL2 is an independent risk factor in acute leukemia patients. (hindawi.com)
The methylation level of the GRHL2 promoter region in acute leukemia patients and cell lines was significantly higher than the normal control group, and we found the elevated mRNA and protein levels of GRHL2 in acute leukemia cell lines after the use of the demethylation drug arsenic trioxide and 5-azacitidine. (hindawi.com)
The most common resistance mechanism in patients whose disease progresses on covalent BTK inhibitors (BTKis) is a mutation in the BTK 481 cysteine residue to which the inhibitors bind covalently. (lu.se)
Pirtobrutinib is a highly selective, noncovalent BTKi with substantial clinical activity in patients whose disease has progressed on covalent BTKi, regardless of BTK mutation status. (lu.se)
Using in vitro ibrutinib-resistant models and cells from patients with CLL, we show that pirtobrutinib potently inhibits BTK-mediated functions including B-cell receptor. (lu.se)
Using in vitro ibrutinib-resistant models and cells from patients with CLL, we show that pirtobrutinib potently inhibits BTK-mediated functions including B-cell receptor (BCR) signaling, cell viability, and CCL3/CCL4 chemokine production in both BTK wild-type and C481S mutant CLL cells. (lu.se)
We employed longitudinal whole-exome sequencing on 2 patients whose disease progressed on pirtobrutinib and identified selection of alternative-site BTK mutations, providing clinical evidence that secondary BTK mutations lead to resistance to noncovalent BTKis. (lu.se)
In particular, ASXL1 mutations are common in patients with hematologic malignancies associated with myelodysplasia, including myelodysplastic syndromes (MDSs), and chronic myelomonocytic leukemia. (jci.org)
Stem cell transplants are typically used for patients with leukemia or specific cancers. (forbes.com)
We compared 24 primary pediatric T-cell acute lymphoblastic leukemias (T-ALL) collected at the time of initial diagnosis and relapse from 12 patients and 24 matched patient-derived xenografts (PDXs). (uzh.ch)
whereas in patients who developed a type 2 relapse (subset of clonal mutations lost at relapse), the preservation of the leukemia's composition was more variable. (uzh.ch)
The non-covalent BTK inhibitor pirtobrutinib provided a high response rate in patients with relapsed/refractory chronic lymphocytic leukemia previously treated with a covalent BTK inhibitor. (universimed.com)
Mutations have been found in the gene encoding G-CSF R in some patients with severe congenital neutropenia. (rndsystems.com)
Patients with an FLT3 mutation have poorer outcomes even with a concomitant nucleophosmin1 (NMP1) mutation, which is normally a good prognostic factor. (northwestern.edu)
These observations raise the question about how best to treat patients with AML who have FLT3 mutations. (northwestern.edu)
There are some retrospective data that allogeneic stem cell transplantation should be offered to patients with FLT3 mutations who have achieved a first remission, but prospective trials are lacking. (northwestern.edu)
BACKGROUND: The impact of single versus multiple fms-like tyrosine kinase receptor 3 internal tandem duplication (FLT3-ITD) mutations on the clinical outcome of patients with acute myelogenous leukemia has not been well studied, and particularly has not been investigated while simultaneously accounting for the quantitative mutation burden. (elsevierpure.com)
CONCLUSIONS: The current results indicated that time-to-event analyses of patients with normal-karyotype acute myelogenous leukemia and FLT3-ITD mutation should take into account the number of mutations and the mutant burden, among other factors. (elsevierpure.com)
Genetic Testing at Diagnosis Has Prognostic Value in Patients with Chronic Lymphocytic Leukemia including at Early Stages. (cdc.gov)
Real-world Clinical Outcomes of First-Line Ibrutinib or Chemoimmunotherapy in Patients with Chronic Lymphocytic Leukemia by Risk Status. (cdc.gov)
Genetic Predictors of Ibrutinib-Related Cardiovascular Side Effects in Patients with Chronic Lymphocytic Leukemia. (cdc.gov)
Finally, patients with certain subtypes of malignant melanoma carry activating mutations in KIT that is driving the disease. (lu.se)
In Section III, Dr. Martin Tallman describes the evaluation and management of patients with acute promyelocytic leukemia, a notable example of therapeutic progress in a molecularly defined entity of leukemia. (ashpublications.org)
We provide the clinical follow-up and molecular aspects of six new patients who carried the same novel mutation in the LIFR gene (p. (bezmialem.edu.tr)
Although mutations in this gene are considered favorable according to current risk stratification guidelines, a large fraction of patients will suffer from relapse, demonstrating the urgent need for new treatment options. (lu.se)
These mutations account for about half of the NS patients [Tartaglia et al. (lu.se)

Genetic drivers are mutations or fusions that confer a survival advantage to "drive" malignant proliferation. (medscape.com)
We report a fatal infection in a 65-year-old immunocompromised male patient caused by pan-triazole-resistant Aspergillus fumigatus containing a TR 34 /L98H genetic mutation linked to agricultural fungicide use. (cdc.gov)
The last decade has witnessed great advances in our understanding of the genetic and biological basis of childhood acute lymphoblastic leukemia (ALL), the development of experimental models to probe mechanisms and evaluate new therapies, and the development of more efficacious treatment stratification. (haematologica.org)
Several lines of evidence indicate that there is a genetic predisposition to acute lymphoblastic leukemia (ALL), at least in a subset of cases. (haematologica.org)
Once an individual is infected, the virus gains foothold by undergoing a series of genetic mutations designed to invade new sets of receptors, allowing it to continually evade detection, attack, and ultimately shut down the body's defenses. (fredhutch.org)

At the same time, the presence of EGFR mutations has raised numerous new questions, tantalizing data, and new challenges for treatment. (aacrjournals.org)
Mechanisms of pathway activation other than mutation have been discovered in recent years, and include overexpression mediated by gene amplification or by amplification of a dinucleotide repeat in the EGFR promoter, mutation of an extracellular region on EGFR generating a mutant protein termed EGFRvIII, and enhanced signaling due to heterodimerization with other members of the EGFR family, particularly overexpression of HER2/HER3. (aacrjournals.org)
Thus far, published clinical data suggest that there is little room for the administration of gefitinib or erlotinib in the absence of EGFR mutations. (aacrjournals.org)

Next, we used methylation-specific polymerase chain reaction (MSP) technology for detecting the methylation of GRHL2 in clinical samples with acute leukemia and cell lines. (hindawi.com)

We conclude, therefore, that SWS and SJS2 represent a single clinically and genetically homogeneous condition due to null mutations in the LIFR gene on chromosome 5p13. (tau.ac.il)

Short Hills, New Jersey - (June 9, 2023) - Humanigen, Inc. (Nasdaq: HGEN) today extended previously reported results by presenting additional, statistically significant hematologic improvements and reductions in inflammatory markers from lenzilumab, its investigational drug, in a Phase 2/3 trial of treatment-naïve participants with chronic myelomonocytic leukemia and RAS-pathway mutations. (biospace.com)
The presentation, entitled "Lenzilumab and Azacitidine Improve Hematologic Alterations of Chronic Myelomonocytic Leukemia in the PREACH-M Trial," highlighted new data in poster format (P737) at 6:00 pm CEST on June 9, 2023, during the 2023 European Hematology Association congress. (biospace.com)

This protein is also found to control the accessibility of a region of the genome that contains the T-cell receptor gamma gene, by STAT5 and histone acetylation[citation needed]. (wikipedia.org)
Secondly, we employed qRT-PCR and Western blotting to detect the mRNA and protein levels of GRHL2 in leukemia cell lines. (hindawi.com)
Then we investigated the demethylating effect of arsenic trioxide and 5-azacitidine on the mRNA and protein expression levels of GRHL2 in cell lines of acute leukemia. (hindawi.com)
The protein encoded by P2RY8 gene is composed of 359-amino acids and belongs to the P2Y family of G-protein coupled receptors that are preferentially activated by adenosine and uridine nucleotides. (atlasgeneticsoncology.org)
It's never been clear what the connection between leukaemia and autoimmune disease is - whether the altered STAT3 protein is driving disease, or whether leukaemic cells are dividing and acquiring this mutation just as a by-product. (scienceblog.com)
D ) ASXL1 protein expression using C-terminus anti-ASXL1 antibodies in leukemia cell lines. (jci.org)
Instead of being buried in the cell's membrane, which is were most receptors are located, it is actually a protein that is secreted to the exterior of the cell. (fredhutch.org)
CSF1R is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. (thermofisher.com)
Mutations in the gene encoding CSF1R have been associated with a predisposition to myeloid malignancy.Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. (thermofisher.com)
Somatic mutations at the phosphotyrosine-binding pocket of the C-terminal SH2 domain of GTPase-activating protein RASA1 have been found in a subset of Basal-cell carcinoma (BCC) [Friedman, 1995]. (lu.se)
ZAP-70 deficiency is a rare autosomal recessive form of severe combined immunodeficiency (SCID) caused by mutations in the gene coding for T cell receptor z-chain associated protein kinase [ Chan et al. (lu.se)
Noonan syndrome (NS) is caused by mutations in PTPN11 , a gene encoding the nonreceptor protein tyrosine phosphatase SHP2. (lu.se)

FMS-like tyrosine kinase 3 (FLT3) is a type III receptor tyrosine kinase that is expressed on the surface of hematopoietic stem cells and plays an important role in normal hematopoiesis. (northwestern.edu)
The HT-KIT drug is designed to more specifically target the receptor tyrosine kinase KIT in mast cells, which is required for the proliferation, survival and differentiation of bone marrow-derived hematopoietic stem cells. (reachmd.com)
Less prevalent findings include cryptorchidism in affected boys, mental retardation, bleeding diatheses and hematopoietic abnormalities including certain leukemias [Gelb & Tartaglia, 2006]. (lu.se)

Covalent inhibitors of Bruton tyrosine kinase (BTK) have transformed the therapy of chronic lymphocytic leukemia (CLL), but continuous therapy has been complicated by the development of resistance. (lu.se)
Targeting the B-cell receptor pathway with covalent, irreversible inhibitors of Bruton's tyrosine kinase (BTK) is integral to current treatment of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL), although resistance often develops due to mutation of C481 in the BTK binding site. (universimed.com)
Pirtobrutinib after a covalent BTK inhibitor in chronic lymphocytic leukemia. (universimed.com)
Inhibiting BTK in chronic lymphocytic leukemia. (universimed.com)
G (rs1800896) Single Nucleotide Polymorphism is Not a Risk Factor of Chronic Lymphocytic Leukemia in Sudanese Population. (cdc.gov)
The rs1001179 SNP and CpG methylation regulate catalase expression in chronic lymphocytic leukemia. (cdc.gov)

Passenger mutations are additional mutations found in the cancers that do not contribute to cancer proliferation. (medscape.com)
Here, we determined the effect of Jiyuan oridonin A (JOA), an ent -kaurene diterpenoid compound, on the differentiation blockade in imatinib-sensitive, particularly, imatinib-resistant CML cells with BCR-ABL-T315I mutation by cell proliferation assay, apoptosis analysis, cell differentiation analysis, cell cycle analysis and colony formation assay. (jcancer.org)
We found that JOA at lower concentration significantly inhibited the proliferation of CML cells expressing mutant BCR-ABL (T315I mutation included) and wild-type BCR-ABL, which was due to that JOA induced the cell differentiation and the cell cycle arrest at G0/G1 phase. (jcancer.org)
When GM-CSF binds to those receptors, it triggers normal myelocyte proliferation and maturation. (biospace.com)

New regulatory mechanisms of TGF-beta receptor function. (ca.gov)
In Section II, Dr. James Griffin reviews the mechanisms that lead to activation of tyrosine kinases by mutations in AML, the consequences of that activation for the cell, and the opportunities for targeted therapy and discusses some examples of developing novel drugs (tyrosine kinase inhibitors) and their effectiveness in AML (FLT3). (ashpublications.org)

Conversely, activating mutations in these receptors, such as IL-7Rα, promote cancers such as B and T cell leukemias ( 3 ) . (biorxiv.org)
Single drugs may cure selected cancers (eg, choriocarcinoma, hairy cell leukemia). (msdmanuals.com)

In total, these findings represent a comprehensive analysis of how ligand properties, and their consequent effects on surface receptor-ligand interactions, translate to selective activation of immune cell populations. (biorxiv.org)
This altered selectivity is explained by altered surface receptor-ligand binding kinetics and can be quantitatively predicted using a multivalent binding model. (biorxiv.org)
The cytokine family operates through a common theme of binding private receptors for each ligand before engaging the common γ c receptor to induce signaling. (biorxiv.org)
Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. (thermofisher.com)

[ 1 ] Mutations found in pediatric malignancies can be categorized broadly into driver mutations and passenger mutations. (medscape.com)

ASXL1-MT mice displayed features of human-associated MDS, including multi-lineage myelodysplasia, pancytopenia, and occasional progression to overt leukemia. (jci.org)

JOA displayed the activity of inhibiting the BCR-ABL and promoted differentiation of not only imatinib -sensitive but also imatinib -resistant cells with BCR-ABL mutation, which could become a potent lead compound to overcome the imatinib -resistant induced by inhibitors of BCR-ABL tyrosine kinase in CML therapy. (jcancer.org)
Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.org)
Future applications could include better targeting of medication, like already TGA-approved JAK inhibitors, based on the presence of these mutations. (scienceblog.com)

These results may create the possibility for lenzilumab development in myelodysplastic leukemias. (biospace.com)

De novo activating mutations drive clonal evolution and enhances clonal fitness in KMT2A-rearranged leukemia. (lu.se)

Mutations in the PIK3R1 gene encoding phosphatidylinositol 3-kinase (PI3-kinase) have been found to cause severe insulin resistance [Baynes et al. (lu.se)

According to Soengas, the tumor suppressive mechanism induced by the ER in melanocytes with these cancer-causing mutations is premature senescence -- a form of "suspended animation" that stops the cell cycle and keeps cells from dividing, but doesn't kill them. (sciencedaily.com)
which means both copies of the gene in each cell have mutations. (medlineplus.gov)
This phenotype is observed most extremely from loss-of-function or reduced activity mutations in γ c which subvert T and NK cell maturation ( 2 ) . (biorxiv.org)
Disruptive mutations in private receptors can lead to more selective reductions in cell types such as regulatory T cells (T reg s) with IL-2Rα or T cells with IL-7Rα ( 1 ) . (biorxiv.org)
People with a specific mutation (called Δ32) on the CCR5 gene develop defective receptors, so the HIV virus can't enter the cell. (forbes.com)
Now, scientists studying FeLV have identified another factor in the infection process: a secondary retroviral receptor (or cofactor) that is crucial for the mutated, or T-cell adapted, virus to do its work. (fredhutch.org)
The receptor tyrosine kinases KIT and FLT3 are both important regulators of development and maintenance of a number of different cell types. (lu.se)
Comparing the cell surface expression on NPM1-mutated AML cells to primitive (CD34+ CD38-) normal bone marrow cells, we identified the complement receptor C3AR as specifically expressed in NPM1-mutated AML. (lu.se)
Modular Design of Synthetic Receptors for Programmed Gene Regulation in Cell Therapies. (lu.se)
The loss of ZAP-70 function leads to selective inability to produce CD8+ T lymphocytes and abolishes T cell receptor stimulation in mature CD4+ T lymphocytes [Arpaia, et al. (lu.se)
PMID:18786442 mutations and the risk of esophageal squamous cell carcinoma. (who.int)

Although loss-of-function ASXL1 mutations promote myeloid transformation, a large subset of ASXL1 mutations is thought to result in stable truncation of ASXL1. (jci.org)

[ 3 ] Loss of function mutations in this gene are implicated in pediatric retinoblastoma. (medscape.com)

Examples of MRD analyses are presented for all 3 subtypes of Flt3-TKD mutation identified in this study. (nih.gov)

These engineered lymphocytes are able to target biomarkers for B cells, including neoplastic mutations typical of acute lymphoblastic leukemia. (nyu.edu)

Some viruses enter by other receptors, so focusing only on CCR5 receptors may not work long-term. (forbes.com)
But donors were chosen, in part, to have this CCR5 mutation, which likely confers immunity. (forbes.com)
Known as the Berlin patient , he received donated stem cells from someone with a mutated CCR5 gene, which normally codes for a receptor on the surface of white blood cells that HIV uses to infect new cells. (worldhealth.net)
A CCR5 mutation makes it difficult for the virus to infect cells, and can make people resistant to HIV. (worldhealth.net)

The mutations that cause Schwartz-Jampel syndrome reduce the amount of perlecan that is produced or lead to a version of perlecan that is only partially functional. (medlineplus.gov)
For the past several years, efforts have been made to explore functional consequences associated with the DNMT3A mutation. (frontiersin.org)
also known as the thymic stromal lymphopoietin receptor), which together with IL7 receptor alpha forms a heterodimeric complex that acts at the functional receptor for thymic stromal lymphopoietin (reviewed in Roll and Reuther, 2010). (atlasgeneticsoncology.org)

These mutations typically led to a truncation in the cytoplasmic domain of the G-CSF R leading to maturation arrest of neutrophil precursors in the bone marrow and neutropenia in peripheral blood (2). (rndsystems.com)

Both mutations were obtained by C-terminal truncation. (bl.uk)

Our data provide evidence for an axis of MDS pathogenesis that implicates both ASXL1 mutations and miR-125a as therapeutic targets in MDS. (jci.org)

reviewed in Roll and Reuther, 2010), as well as mutations of the lymphoid transcription factor gene IKZF1 (IKAROS) (Harvey et al. (atlasgeneticsoncology.org)

We also used a model system with MonoMac-6 cells carrying the Flt3-V592A mutation to establish a mutation-specific real-time PCR approach also for this molecular aberration. (nih.gov)
Lenzilumab, a granulocyte-macrophage colony-stimulating factor (GM-CSF) neutralizing antibody, prevents GM CSF from binding to receptors on hematologic progenitor cells. (biospace.com)
Acute lymphoblastic leukemia (ALL) is a cancer of the white blood cells and is typically well treated with combination chemotherapy, with a remission state after 5 years of 94% in children and 30-40% in adults. (karger.com)
We knew that people with various autoimmune diseases acquire these rogue killer T cells over time, but also that inflammation can cause immune cells to proliferate and develop mutations. (scienceblog.com)
The study also identified two specific receptor systems - ways for cells to talk to one another - that are linked to stress. (scienceblog.com)
ASXL1 mutations inhibit G-CSF-induced myeloid differentiation of 32Dcl3 cells. (jci.org)
How susceptible an individual is to HIV infection is in part dependent on viral receptors on the surface of their own white blood cells. (forbes.com)
The goal is to understand factors that hinder cytokine signaling, or "crosstalk" between these CAR-T and leukemia cells during this process. (nyu.edu)
The paper sheds new light on how the feline leukemia virus, or FeLV, infiltrates cells. (fredhutch.org)
First, the transplanted donor stem cells helped kill the recipients' HIV-infected cells by recognizing them as foreign invaders and attacking them, similar to the process of graft-versus-leukemia that can cure people of cancer. (worldhealth.net)
Around the same time, and building on the observation that the vitamin folic acid could stimulate acute lymphoblastic leukemia (ALL) cells, Farber used folate analogs such as aminopterin and then amethopterin (methotrexate) to treat ALL, in what is often heralded as the first 'rational' drug development approach [ 4 ]. (biomedcentral.com)

About 25% of AML cases are accompanied by DNA (cytosine-5)-methyltransferase 3A (DNMT3A) molecular mutation. (frontiersin.org)

They know that 90 percent of moles contain cancer-causing mutations. (sciencedaily.com)
What scientists didn't know is how melanocytes stop these mutations from triggering the development of cancer. (sciencedaily.com)

This thesis describes the characterization of the interactions between the cytokine oncostatin M (OSM) and the cytokine-binding homology region (CHR) of its receptor gp130. (bl.uk)

The DNMT3A mutation can cause significant changes in epigenetic modifications and is one of the essential regulatory factors for the occurrence and development of leukemia ( 4 ). (frontiersin.org)

Anatomy17

Organisms15

Diseases49

Chemicals and Drugs61

Analytical, Diagnostic and Therapeutic Techniques and Equipment36

Phenomena and Processes85

Information Science3

Named Groups1

Health Care7

Epidermal growth f4

Internal tandem duplications2

Gene mutations8

Signaling pathway5

Inhibitory4

TP539

Cytokine receptor2

Prognosis10

Myeloid leukemia18

Point mutations2

Interleukin 7 recept5

Genes6

Recurrent1

Antigen3

Cytokines4

Proteins1

Tumors5

Androgen receptor3

Germline1

Patients32

Genetic5

EGFR3

Clinical1

LIFR1

20232

Protein12

Hematopoietic3

Chronic6

Proliferation4

Mechanisms2

Cancers2

Ligand4

Malignancies1

Progression1

Inhibitors3

Myelodysplastic1

Clonal evolution1

Phosphatidylinositol 3-kina1

Cell11

Subset1

Pediatric1

Subtypes1

Lymphocytes1

CCR54

Functional3

Maturation1

Truncation1

Therapeutic targets1

Transcription factor gene1

Cells11

Molecular1

Cancer2

Homology region1

Occurrence and development1