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Journal articles on the topic 'Scramble Mutation'

Author: Grafiati

Published: 4 June 2025

Last updated: 1 August 2025

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1

Kalafati, Eleni, Nefeli Mavrianou Koutsoukou, Alexandra Papadimou, et al. "CXCR4 S338X Promotes Resistance to Second Generation BTK Inhibitor and BCL-2 Inhibitor in WM Cells." Blood 142, Supplement 1 (2023): 6600. http://dx.doi.org/10.1182/blood-2023-180658.

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Introduction: Waldenström macroglobulinemia (WM) is an IgM-secreting lymphoplasmacytic lymphoma. CXCR4 somatic mutations are common in WM and are associated with clinical resistance to Bruton's tyrosine kinase (BTK) inhibitors and other therapeutic agents. CXCR4 mutations occur nearly exclusively with MYD88 L265Pmutation, with CXCR4 S338X constituting the most common in WM patients. The aim of this study was to further investigate the effect of CXCR4 S338X on BTK inhibitors (ibrutinib and zanubrutinib) and a BCL-2 inhibitor (venetoclax) resistance. Methods: MWCL-1 cells were transfected with s

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2

Wirayanti, Ni Komang Ayu, and Haris Sriwindono. "Implementation of Hybrid Genetic Algorithm for Solving the Teacher Placement Problem." Social Science and Humanities Journal 9, no. 01 (2025): 6341–47. https://doi.org/10.18535/sshj.v9i01.1460.

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The teacher placement problem is a combinatorial problem that would take a very long time to solve in a deterministic way. In this study, the problem will be solved using a hybrid genetic algorithm, which combines genetic algorithms with local search methods. The genetic algorithm operators used include roulette wheel selection, two point crossover, and scramble mutation. While the local search used is reverse, insert, and swap local search. The results showed that from the three experiments using hybrid genetic algorithms, it was found that hybrid genetic algorithms were more effective than o

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3

Roccaro, Aldo M., Antonio Sacco, Cristina Jimenez, et al. "A Novel Activating Mutation Of CXCR4 Plays a Crucial Role In Waldenstrom Macroglobulinemia Biology." Blood 122, no. 21 (2013): 272. http://dx.doi.org/10.1182/blood.v122.21.272.272.

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Abstract Background The C-X-C chemokine receptor type 4 (CXCR4) plays a crucial role in modulating the biology of B-cell lymphoproliferative disorders. Recent whole genome sequencing studies have identified unique CXCR4 mutations in 29% of the 55 evaluated patients with Waldenstrom Macroglobulinemia (WM). In this study, we sought to better define the mutation status of CXCR4 in B-cell malignancies and define the functional role of this mutation in the progression of WM in vivo. Methods Allele-specific(AS) PCR has been performed on bone marrow (BM)-derived tumor cells of patients with WM (n: 13

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4

Fiore, Michele, Alberto Taddia, Valentina Indio, et al. "Molecular Signature of Biological Aggressiveness in Clear Cell Sarcoma of the Kidney (CCSK)." International Journal of Molecular Sciences 24, no. 4 (2023): 3743. http://dx.doi.org/10.3390/ijms24043743.

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Clear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor with a worse prognosis than Wilms’ tumor. Although recently, BCOR internal tandem duplication (ITD) has been found as a driver mutation in more than 80% of cases, a deep molecular characterization of this tumor is still lacking, as well as its correlation with the clinical course. The aim of this study was to investigate the differential molecular signature between metastatic and localized BCOR-ITD-positive CCSK at diagnosis. Whole-exome sequencing (WES) and whole-transcriptome sequencing (WTS) were performed on six locali

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5

Zhu, Ding, Xiaojun Tong, Miao Zhang, and Zhu Wang. "A New S-Box Generation Method and Advanced Design Based on Combined Chaotic System." Symmetry 12, no. 12 (2020): 2087. http://dx.doi.org/10.3390/sym12122087.

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The construction of substitute box (S-box) has always been an important research direction in cryptography. This paper proposes a new S-box generation method and advanced design based on combined chaotic system. Firstly, our paper proposes a new combined chaotic system and analyze its dynamic behavior. Next, we construct S-box by combining the generated pseudo-random sequence with the linear congruence random number generator, and the standard mapping is introduced to scramble the initial S-box. Then, the S-box optimization method based on advanced genetic algorithm is proposed in this paper.

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6

Abdel-Basset, Mohamed, Reda Mohamed, Mohamed Abouhawwash, Victor Chang, and S. S. Askar. "A Local Search-Based Generalized Normal Distribution Algorithm for Permutation Flow Shop Scheduling." Applied Sciences 11, no. 11 (2021): 4837. http://dx.doi.org/10.3390/app11114837.

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This paper studies the generalized normal distribution algorithm (GNDO) performance for tackling the permutation flow shop scheduling problem (PFSSP). Because PFSSP is a discrete problem and GNDO generates continuous values, the largest ranked value rule is used to convert those continuous values into discrete ones to make GNDO applicable for solving this discrete problem. Additionally, the discrete GNDO is effectively integrated with a local search strategy to improve the quality of the best-so-far solution in an abbreviated version of HGNDO. More than that, a new improvement using the swap m

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7

Reddaiah, Buduri, Rao Kanusu Srinivasa, Chinthakunta Swetha, Godina Amruthavani, and Siddavatam Sivajyothi. "Linear Congruential Pseudorandom Numbered Hybrid Crypto-System with Genetic Algorithms." International Journal of Engineering and Advanced Technology (IJEAT) 10, no. 2 (2020): 159–63. https://doi.org/10.35940/ijeat.B2092.1210220.

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While using networks that may be in any form more and more problems related to securityrises within the network as well as outside the network. To resolve the security problems network security is the science that facilitatesto safeguard the resources and the quality of the network and data. At different workstations filters and firewalls are used in protecting the resources. But while the data is in transmission security services are needed to protect. These services are to be altered frequently to prevent from attacks. In developing such system, this work uses linear congruential pseudorando

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8

Kalafati, Eleni, Kostantina Taouxi, Ourania Theologi, et al. "The Combined Treatment of Btkis with Venetoclax Exhibits an Enhanced Therapeutic Effect on Waldenström Macroglobulinemia Cells Bearing CXCR4 Mutations." Blood 144, Supplement 1 (2024): 1603. https://doi.org/10.1182/blood-2024-205460.

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Waldenström macroglobulinemia (WM) is an IgM-secreting lymphoplasmacytic lymphoma characterized by recurrent somatic mutations in CXCR4 gene that are present in about 30-40% of WM patients always co-oocur with MYD88L265P mutation, and are associated with clinical resistance to therapeutic agents including Bruton's tyrosine kinase inhibitors (BTKIs). The aim of this study was to investigate the therapeutic effect of the combination of BTKIs, ibrutinib and 2nd generation zanubrutinib, with a BCL-2 inhibitor (venetoclax) in the CXCR4 mutated (CXCR4MUT)cells. MWCL-1, BCWM-1 and OCI-LY3 cells were

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9

Rahbek, L. W., C. R. Terp, U. Alibrandi, and P. H. Kirkegaard. "Stock Optimization of Naturally Curved Wood Logs on Freeform Truss Structures." Journal of the International Association for Shell and Spatial Structures 64, no. 4 (2023): 257–65. http://dx.doi.org/10.20898/j.iass.2023.029.

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This paper presents an optimization method for incorporating discarded naturally curved wood logs onto a freeform gridshell with a predefined topology. Though still little explored, the research field of reusing structural elements is experiencing increasing attention owing to its significant potential to reduce the environmental impact of building design. However, several constraints must be considered as the optimal structure depends on stock availability and the corresponding geometry and material properties of that given stock. Therefore, the focus is on determining the best configuration

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10

Dong, Alisa Cheung, Valentina Ghiaccio, Irene Motta, et al. "Adult Hemoglobin Production, Chain Rebalance, and Splice Correction in IVS2-745 Beta-Thalassemia Patient Cells Using 2'-O-Methoxyethyl Splice-Switching Oligos." Blood 128, no. 22 (2016): 1014. http://dx.doi.org/10.1182/blood.v128.22.1014.1014.

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Abstract Hemoglobinopathies are the most common inherited blood disorders. World Health Organization statistics show that in the Mediterranean, Eastern European, and Middle Eastern regions, frequencies range from 0.1 to 4.9/1000 of live births. The mutation known as IVS2-745 is relatively common in the regions of Spain, Jordan, Romania, and Serbia (Ithanet Database, http://www.ithanet.eu/db/ithamaps), reaching as high as 15-20% of beta-thalassemia mutations in these regions. The IVS2-745 is a splicing mutation that occurs in intron 2 of the beta-globin gene and results in an aberrantly spliced

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11

Blanc, Lionel, Steven L. Ciciotte, Jeffrey Michael Lipton, Johnson M. Liu, and Luanne L. Peters. "RASA3 Plays a Critical, Conserved Role in Erythroid Differentiation." Blood 120, no. 21 (2012): 3186. http://dx.doi.org/10.1182/blood.v120.21.3186.3186.

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Abstract Abstract 3186 Identification of new key players in erythropoiesis can lead to a better understanding of the etiology of anemia of unknown origin. Mouse models have significantly contributed to our understanding of normal erythropoiesis and the pathogenesis of erythroid disorders. Recently, we identified in the scat (severe combined anemia and thrombocytopenia) mouse model a missense mutation (G125V) in the Rasa3 gene, encoding a Ras GTPase activating protein (GAP). Homozygous scat mice present a cyclic phenotype with alternating episodes of crisis and remission. Crisis episodes are ch

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12

Gerloff, Dennis, Alexander Arthur Wurm, Jens-Uwe Hartmann, et al. "Next Generation Sequencing and Functional Analysis of Mirna Expression in Acute Myeloid Leukemia Patients with Different FLT3 Mutations: Block of MiR-155 in FLT3-ITD Driven AML Leads to Downregulation of Myeloid Blasts in Vivo." Blood 126, no. 23 (2015): 2438. http://dx.doi.org/10.1182/blood.v126.23.2438.2438.

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Abstract Up to 30% of all acute myeloid leukemias (AMLs) are associated with an activating mutation in the FMS-like tyrosine kinase 3 receptor (FLT3). Two distinct groups of FLT3 mutations are found: (1) the most common are internal tandem duplications (ITDs) of the FLT3 juxtamembrane region, and (2) point mutations within the tyrosine kinase domains (TKDs). While FLT3-TKD mutations seem to have no prognostic relevance in AML, patients bearing an FLT3-ITD mutation have a significantly worse outcome compared with AML patients with wild-type FLT3 (FLT3-WT). MicroRNAs (miRNAs) are small (~22 bp)

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13

Yamazaki, Hiroyuki, Kotaro Shirakawa, Tadahiko Matsumoto, et al. "Aberrantly Expressed APOBEC3B Induces Mutations in Multiple Myeloma." Blood 128, no. 22 (2016): 4453. http://dx.doi.org/10.1182/blood.v128.22.4453.4453.

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Abstract Multiple myeloma (MM) is a malignant plasma cell tumor that arises secondarily from monoclonal gammopathy of uncertain significance (MGUS) due to accumulation of genetic abnormalities. Apolipoprotein B mRNA editing enzyme catalytic polypeptide-like (APOBEC) is a family of DNA cytosine deaminases that play critical roles in innate and acquired immunity. APOBEC proteins catalyze cytosine to uracil deamination and eventually induce C to T mutations in DNA. Recent genome-wide analysis revealed that APOBEC-induced signature DNA mutations accumulate during progression of MM and are associat

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14

Krasnick, Bradley, Matthew S. Strand, Ye Bi, et al. "Anti-KRAS siRNA nanoparticles for targeted colorectal cancer therapy." Journal of Clinical Oncology 35, no. 4_suppl (2017): 636. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.636.

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636 Background: Standard treatment for metastatic colorectal cancer (mCRC) is systemic chemotherapy with anti-EGFR treatment, depending on KRAS mutational status. However, tumors harboring a KRAS mutation do not respond to existing targeted therapy. Moreover, targeting mutant KRAS has, to date, not been possible. Herein, we explore using a KRAS inhibitory nanoparticle (NP), to directly knock down mutant KRAS. Methods: Utilizing fluorescent-labeled small interfering RNA (siRNA) NPs, uptake was assessed via fluorescent microscopy. KRAS mutant CT26 and wild-type MC38 CRC cell lines were incubated

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15

Smith, Margaret R., Yuezhu Wang, Caroline B. Dixon, et al. "Abstract A050: Enhancing immune checkpoint inhibitor efficacy by targeting neurotrophic receptor tyrosine kinase 1 signaling in immune resistant non-small cell lung cancer patients." Cancer Immunology Research 11, no. 12_Supplement (2023): A050. http://dx.doi.org/10.1158/2326-6074.tumimm23-a050.

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Abstract Introduction: The FDA’s approval of immune checkpoint inhibitors (ICI) in 2015 drastically changed the survival of late-stage non-small cell lung cancer (NSCLC) patients. However, only about 30% of NSCLC patients respond to treatment, while the other 70% are immune resistant. Through an analysis of 424 NSCLC patients at Atrium Wake Forest, we have identified a loss-of-function mutation in Neurotrophic Receptor Tyrosine Kinase 1 (NTRK1) as a biomarker for response to ICI. We hypothesize that by treating wild-type immune-resistant tumors with Entrectinib, we can mimic the effect of the

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16

Keane, Lily, Mercedes Posada Perez, Lara Friess, and Bertrand Joseph. "TMIC-74. THERAPEUTICALLY REPROGRAMMING MICROGLIA TO ANTI-TUMORAL ACTIVATION STATES IN DIFFUSE MIDLINE GLIOMA, H3K27 MUTANT." Neuro-Oncology 24, Supplement_7 (2022): vii288. http://dx.doi.org/10.1093/neuonc/noac209.1117.

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Abstract Diffuse midline glioma (DMG), H3K27M mutant, is one of the most challenging paediatric cancers to date with poor treatment options and dismal survival outcomes. Therefore, new treatment options are desperately needed. Previously we found that activation of the microglial tumour-supportive phenotype by DIPG is associated with a transient H3K27me3 downregulation suggesting a role for this pathway in inducing this activation state. However, it should be noted, that microglia do not carry the H3-K27M mutation when analysed in DIPG patient tissue, otherwise characteristic of the cancer cel

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17

Xiong, Jie, Wen-Fang Wang, and Wei-Li Zhao. "Abstract 5579: MGAloss-of-function regulates mitochondrial oxidative metabolism-induced cancer stem cell phenotype during lymphomagenesis with therapeutic potential." Cancer Research 84, no. 6_Supplement (2024): 5579. http://dx.doi.org/10.1158/1538-7445.am2024-5579.

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Abstract As an antagonist of MYC oncogene, Max gene associated (MGA) gene are implicated in multiple cancers, proposing the potential role of tumor suppressor. Using multi-omics data of The Cancer Genome Atlas (TCGA, n=10,295) and lymphoma datasets from our group (n=702), we defined genetic features associated with MGA and its related MYC/MAX/MXD network members across 36 cancers. Pan-cancer, MGA mutation, predominant as nonsense or frameshift, was observed in 4.39% of all samples. MGA expression was significantly downregulated in mutated samples than that of wild type samples. Moreover, MGA m

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18

Aichberger, Karl J., Matthias Mayerhofer, Karoline V. Gleixner, et al. "The KIT D816V-Targeting Drug PKC412 Induces Re-Expression of Bim and Synergizes with Mcl-1 Antisense Oligonucleotides in Producing Growth Inhibition in Neoplastic Human Mast Cells." Blood 108, no. 11 (2006): 1437. http://dx.doi.org/10.1182/blood.v108.11.1437.1437.

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Abstract Systemic mastocytosis (SM) is a myeloid neoplasm involving uncommitted and mast cell (MC) committed hematopoietic progenitors. In most SM patients, the transforming c-KIT point mutation D816V is detectable. However, so far, little is known about the molecular mechanisms underlying KIT D816V-induced transformation. We examined the expression of two Bcl-2 family members, i.e. anti-apoptotic Mcl-1 and the pro-apoptotic tumor suppressor Bim, in the KIT D816V+ human mast cell line HMC-1. As assessed by RT-PCR, immunocytochemistry, and Western blotting, these cells were found to express Mcl

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19

Singh, Sharon, Lionel Blanc, Adrianna Henson, Gulay Sezgin, Steven R. Ellis, and Johnson M. Liu. "Suppression of the Hematopoietic Defect in TF-1 Cells Depleted of Shwachman-Diamond Syndrome Protein: Correlation with Decreased eIF6 Levels." Blood 120, no. 21 (2012): 1270. http://dx.doi.org/10.1182/blood.v120.21.1270.1270.

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Abstract Abstract 1270 Shwachman Diamond syndrome (SDS) is a rare autosomal recessive bone marrow failure syndrome mainly characterized by neutropenia, exocrine pancreatic insufficiency and an increased risk of myelodysplastic syndrome and leukemia. The phenotype in patients is variable for unclear reasons, but approximately 90% of patients have biallelic mutations in the SBDS gene. At least one action of the SBDS protein is to couple with the GTPase ELF1 to facilitate release of the eIF6 protein from the 60S ribosome subunit, thus enabling joining of the 60S and 40S ribosome subunits, a funct

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20

Dulmovits, Brian M., Yue Zhao, Luanne L. Peters, and Lionel Blanc. "RASA3 Is Involved in Cell Cycle Progression, Hemoglobinization and Generation of Reactive Oxygen Species during Mammalian Erythropoiesis." Blood 126, no. 23 (2015): 3328. http://dx.doi.org/10.1182/blood.v126.23.3328.3328.

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Abstract RASA3, a Ras GTPase activating protein, is critical to vertebrate erythropoiesis and megakaryopoiesis. Defective RASA3 in zebrafish and mice results in severe anemia and thrombocytopenia. Indeed, in the mouse model scat (severe combined anemia and thrombocytopenia), a G125V mutation in Rasa3 leads to profound bone marrow failure with characteristics of aplastic anemia. The phenotype is cyclic, and mice alternate between periods of crisis and remission. Previous studies showed that this mutation in Rasa3 causes severely delayed erythroid differentiation at the polychromatophilic stage

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Sakuragi, Takaharu, Hidetaka Kosako, and Shigekazu Nagata. "Phosphorylation-mediated activation of mouse Xkr8 scramblase for phosphatidylserine exposure." Proceedings of the National Academy of Sciences 116, no. 8 (2019): 2907–12. http://dx.doi.org/10.1073/pnas.1820499116.

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The exposure of phosphatidylserine (PtdSer) to the cell surface is regulated by the down-regulation of flippases and the activation of scramblases. Xkr8 has been identified as a scramblase that is activated during apoptosis, but its exogenous expression in the mouse Ba/F3 pro B cell line induces constitutive PtdSer exposure. Here we found that this Xkr8-mediated PtdSer exposure occurred at 4 °C, but not at 20 °C, although its scramblase activity was observed at 20 °C. The Xkr8-mediated PtdSer exposure was inhibited by a kinase inhibitor and enhanced by phosphatase inhibitors. Phosphorylated Xk

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22

Matto, Nazia, Terry J. Gaymes, Austin G. Kulasekararaj, Syed A. Mian, and Ghulam J. Mufti. "Mutations in Cohesin Complex As Potential Targets for Therapeutic Intervention By PARP (Poly ADP Ribose Polymerase) Inhibitors in Myelodysplastic Syndrome." Blood 126, no. 23 (2015): 1221. http://dx.doi.org/10.1182/blood.v126.23.1221.1221.

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Abstract INTRODUCTION The cohesin complex is a multimeric protein complex reported to have putative roles in post-replicative DNA repair, sister chromatids cohesion and transcriptional regulation. Somatic mutations in the genes that constitute the cohesin complex (NIPBL, SMC1A, SMC3, and HDAC8) give rise to the debilitating disease, Cornelia de Lange Syndrome. The cohesin genes are mutated in several cancers, the highest incidence reported in bladder cancer followed by myeloid cancers such as myelodysplastic syndrome (MDS). Inhibition of PARP (Poly ADP Ribose Polymerase) activity has been show

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23

Flygare, Johan, Thomas Kiefer, Koichi Miyake, et al. "Hematopoietic Mechanism in Diamond-Blackfan Anemia: Late Erythroid Development Is Not Affected by Ribosomal Protein S19 Deficiency." Blood 104, no. 11 (2004): 719. http://dx.doi.org/10.1182/blood.v104.11.719.719.

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Abstract Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia in which 25% of the patients have a mutation in the ribosomal protein S19 (RPS19) gene. It is unknown how the ribosomal protein deficiency leads to anemia. We previously developed three lentiviral vectors expressing siRNA against RPS19 and one scramble control vector. All vectors also express GFP. We have previously shown that transduction of CD34+ bone marrow (BM) cells with the siRNA vectors reduced RPS19 mRNA levels, resulting in formation of fewer erythroid colonies. In the present study, we have demonstrated downregul

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Miyake, Koichi, Taiju Utsugisawa, Johan Flygare, et al. "Apoptotic Change Is a Major Reason for Defect in Early Erythroid Development in Cell Line Models for Ribosomal Protein (RP) S19 Deficient Diamond-Blackfan Anemia." Blood 104, no. 11 (2004): 2840. http://dx.doi.org/10.1182/blood.v104.11.2840.2840.

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Abstract Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia in which 25% of the patients have a mutation in the ribosomal protein (RP) S19 gene. It is not known how the RPS19 deficiency impairs erythopoiesis and proliferation of hematopoietic progenitors. The majority of cases appear to result from an intrinsic disorder of the erythroid progenitor that involves its inability to respond normally to inducers of erythroid proliferation and differentiation. Erythropoietin (Epo) controls the proliferation, differentiation and survival of the erythroid progenitors. However, so far, no re

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25

Sweet, H. O., R. T. Bronson, K. R. Johnson, S. A. Cook, and M. T. Davisson. "Scrambler, a new neurological mutation of the mouse with abnormalities of neuronal migration." Mammalian Genome 7, no. 11 (1996): 798–802. http://dx.doi.org/10.1007/s003359900240.

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26

Thomas, Daniel, Subarna Sinha, Steven M. Chan, et al. "Isocitrate Dehydrogenase 1 Mutant Cancers Are Metabolically Vulnerable to Inhibition of Acetyl CoA Carboxylase Via a 2-Hydroxyglutarate Independent Mechanism." Blood 128, no. 22 (2016): 1054. http://dx.doi.org/10.1182/blood.v128.22.1054.1054.

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Abstract Introduction: Mutations substituting arginine 132 of isocitrate dehydrogenase 1 (IDH1) are recurrent in acute myeloid leukemia (AML) and several other cancers, resulting in the aberrant production of the onco-metabolite, R-2-hydroxyglutarate (2-HG), as well as an inability to convert cytoplasmic alpha-ketoglutarate to isocitrate via reductive carboxylation. Currently, small molecules that effectively inhibit the neomorphic enzyme and abrogate the production of 2-HG, such as AG-120, are in clinical trials with promising results. However, these inhibitors have not proven to be curative

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Schuessler, Andrea, Kerstin Laib Sampaio, Laura Scrivano, and Christian Sinzger. "Mutational Mapping of UL130 of Human Cytomegalovirus Defines Peptide Motifs within the C-Terminal Third as Essential for Endothelial Cell Infection." Journal of Virology 84, no. 18 (2010): 9019–26. http://dx.doi.org/10.1128/jvi.00572-10.

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ABSTRACT The UL130 gene is one of the major determinants of endothelial cell (EC) tropism of human cytomegalovirus (HCMV). In order to define functionally important peptides within this protein, we have performed a charge-cluster-to-alanine (CCTA) mutational scanning of UL130 in the genetic background of a bacterial artificial chromosome-cloned endotheliotropic HCMV strain. A total of 10 charge clusters were defined, and in each of them two or three charged amino acids were replaced with alanines. While the six N-terminal clusters were phenotypically irrelevant, mutation of the four C-terminal

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Ardell, David H., Catherine A. Lozupone та Laura F. Landweber. "Polymorphism, Recombination and Alternative Unscrambling in the DNA Polymerase α Gene of the Ciliate Stylonychia lemnae (Alveolata; class Spirotrichea)". Genetics 165, № 4 (2003): 1761–77. http://dx.doi.org/10.1093/genetics/165.4.1761.

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Abstract DNA polymerase α is the most highly scrambled gene known in stichotrichous ciliates. In its hereditary micronuclear form, it is broken into &gt;40 pieces on two loci at least 3 kb apart. Scrambled genes must be reassembled through developmental DNA rearrangements to yield functioning macronuclear genes, but the mechanism and accuracy of this process are unknown. We describe the first analysis of DNA polymorphism in the macronuclear version of any scrambled gene. Six functional haplotypes obtained from five Eurasian strains of Stylonychia lemnae were highly polymorphic compared to

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Thomas, Daniel, Yusuke Nakauchi, Manhong Wu, et al. "IDH1 Mutant AML Is Susceptible to Targeting De Novo Lipid Synthesis Independent of 2-Hydroxyglutarate and Has a Distinct Metabolic Profile from IDH2 Mutant AML." Blood 132, Supplement 1 (2018): 440. http://dx.doi.org/10.1182/blood-2018-99-115040.

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Abstract Introduction: Mutations in IDH1 and IDH2 are recurrent in AML and several other cancers, resulting in the aberrant production of the onco-metabolite, R-2-hydroxyglutarate (2-HG), as well as an inability of mutant IDH1 to convert cytoplasmic alpha-ketoglutarate to isocitrate via reductive carboxylation. Currently, inhibitors of the neomorphic enzymes that abrogate the production of 2-HG, such as AG-120, are FDA-approved, but are not curative. Using a novel computational method (MiSL), we identified acetyl CoA carboxylase (ACACA) as a potential druggable target specifically in IDH1-muta

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Usman, Natalia, Victor Tarabykin, and Peter Gruss. "The novel PCR-based technique of genotyping applied to identification of scrambler mutation in mice." Brain Research Protocols 5, no. 3 (2000): 243–47. http://dx.doi.org/10.1016/s1385-299x(00)00019-2.

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Nguyen, Dung M., Louisa S. Chen, Wei-Ping Yu, and Tsung-Yu Chen. "Comparison of ion transport determinants between a TMEM16 chloride channel and phospholipid scramblase." Journal of General Physiology 151, no. 4 (2019): 518–31. http://dx.doi.org/10.1085/jgp.201812270.

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Two TMEM16 family members, TMEM16A and TMEM16F, have different ion transport properties. Upon activation by intracellular Ca2+, TMEM16A—a Ca2+-activated Cl− channel—is more selective for anions than cations, whereas TMEM16F—a phospholipid scramblase—appears to transport both cations and anions. Under saturating Ca2+ conditions, the current–voltage (I-V) relationships of these two proteins also differ; the I-V curve of TMEM16A is linear, while that of TMEM16F is outwardly rectifying. We previously found that mutating a positively charged lysine residue (K584) in the ion transport pathway to glu

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Sullivan, W., P. Fogarty, and W. Theurkauf. "Mutations affecting the cytoskeletal organization of syncytial Drosophila embryos." Development 118, no. 4 (1993): 1245–54. http://dx.doi.org/10.1242/dev.118.4.1245.

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Cytoplasmic organization, nuclear migration, and nuclear division in the early syncytial Drosophila embryo are all modulated by the cytoskeleton. In an attempt to identify genes involved in cytoskeletal functions, we have examined a collection of maternal-effect lethal mutations induced by single P-element transposition for those that cause defects in nuclear movement, organization, or morphology during the syncytial embryonic divisions. We describe three mutations, grapes, scrambled, and nuclear-fallout, which define three previously uncharacterized genes. Females homozygous for these mutatio

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Portante, Alessia, Laura Canty, Palak Patel, et al. "DNAR-08. BASE EXCISION REPAIR AS A THERAPEUTIC TARGET FOR DIFFUSE HEMISPHERIC GLIOMA, H3.3G34-MUTANT." Neuro-Oncology 25, Supplement_5 (2023): v99—v100. http://dx.doi.org/10.1093/neuonc/noad179.0374.

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Abstract Diffuse hemispheric gliomas with H3.3G34R/V mutations are primarily found in the cerebral hemisphere in adolescents and young adults, with a median age of 16-19 years. H3.3G34R frequently co-occurs with mutations in ATRX and TP53 as well as PDGFRα. We performed mutational signature analysis on a cohort of 28 cases of Diffuse hemispheric glioma, H3G34-mutant (7 WGS and 21 WES). Mutational signatures of defects in mismatch repair (MMR), homologous recombination (HR), and nucleotide excision repair (NER) pathways were found in 86% cases whereas only two (7%) had signatures of impaired ba

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Francis, Vincent Gerard, and Sathyanarayana N. Gummadi. "Biochemical and functional characterization of human phospholipid scramblase 4 (hPLSCR4)." Biological Chemistry 393, no. 10 (2012): 1173–81. http://dx.doi.org/10.1515/hsz-2012-0129.

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Abstract Human phospholipid scramblase 4 (hPLSCR4), an isoform of the scramblase family, is a type II single-pass transmembrane protein whose function remains unknown. To understand its role, recombinant hPLSCR4 was obtained by cloning the ORF into a pET28 a(+) vector and overexpressed in Escherichia coli. Functional assay showed that Ca2+, Mg2+, and Zn2+ activate hPLSCR4 and mediate scrambling activity independent of the phospholipid head group. Far-UV-CD and fluorescence spectroscopy revealed that Ca2+ and Mg2+ binding induces conformation change in hPLSCR4, exposing hydrophobic patches of t

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Rice, D. S., M. Sheldon, G. D'Arcangelo, K. Nakajima, D. Goldowitz, and T. Curran. "Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain." Development 125, no. 18 (1998): 3719–29. http://dx.doi.org/10.1242/dev.125.18.3719.

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Mutation of either reelin (Reln) or disabled-1 (Dab1) results in widespread abnormalities in laminar structures throughout the brain and ataxia in reeler and scrambler mice. Both exhibit the same neuroanatomical defects, including cerebellar hypoplasia with Purkinje cell ectopia and disruption of neuronal layers in the cerebral cortex and hippocampus. Despite these phenotypic similarities, Reln and Dab1 have distinct molecular properties. Reln is a large extracellular protein secreted by Cajal-Retzius cells in the forebrain and by granule neurons in the cerebellum. In contrast, Dab1 is a cytop

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Makaryan, Vahagn, Yigal Dror, and Andrew A. Aprikyan. "Loss of Tafazzin (TAZ) Function and Accelerated Apoptosis of Human Bone Marrow Stem and Myeloid Progenitors in Barth Syndrome." Blood 114, no. 22 (2009): 549. http://dx.doi.org/10.1182/blood.v114.22.549.549.

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Abstract Abstract 549 Barth syndrome (BTHS) is a severe X-linked stem cell disorder characterized by neutropenia, cardio- and skeletal myopathies, and growth retardation. Barth patients have a high rate of mortality due to progressive cardiomyopathy and/or overwhelming bacterial infections. Majority of Barth patients have mutations in the tafazzin (G4.5 or TAZ) gene that appear to truncate the tafazzin protein resulting in the loss of TAZ function. Based on protein homology, tafazzin is a phospholipid acyltransferase involved in remodeling cardiolipin (CL), the main lipid of the inner mitochon

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Sakoda, Teppei, Yoshikane Kikushige, Toshihiro Miyamoto, and Koichi Akashi. "Identification of TIM-3/Gal-9 Autocrine Loop As a Novel Wnt-Ligands Independent Machinery for the Constitutive Activation of Canonical Wnt Pathway in AML-LSCs." Blood 132, Supplement 1 (2018): 1460. http://dx.doi.org/10.1182/blood-2018-99-116897.

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Abstract We originally identified T-cell immunoglobulin mucin-3 (TIM-3) as a leukemic stem cells (LSCs)-specific surface molecule and a useful marker for discriminating LSCs from hematopoietic stem cells (HSCs). Furthermore, we recently identified an unique autocrine loop composed of TIM-3 and its ligand galectin-9 (Gal-9). This TIM-3/Gal-9 autocrine loop enhances self-renewal capacity of AML-LSCs and contributes to leukemia progression(Kikushige et al., Cell Stem Cell 2015). To clarify the molecular mechanism how TIM-3 signaling enhances stem cell properties of AML-LSCs, we performed shRNA-me

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Schuettrumpf, Joerg, Jianxiang Zou, Shin Jen Tai, et al. "A Novel Role of Coagulation Proteases on Viral-Based Gene Transfer Efficacy." Blood 104, no. 11 (2004): 691. http://dx.doi.org/10.1182/blood.v104.11.691.691.

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Abstract Coagulation proteases are crucial for hemostasis and have also been implicated in inflammatory responses, blood vessel formation, and tumor cell metastasis. Cellular responses triggered by proteases are mediated by protease-activated receptors (PAR). Adeno-associated virus (AAV)-2 vectors hold promise for the treatment of several diseases and were already tested in Phase I studies for hemophilia B following intramuscular or hepatic artery deliveries. Previously, we determined an unexpected inhibitory effect (60–70% downregulation) on AAV-2 and adenovirus mediated gene transfer by thro

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Bläsi, Udo, Peter Fraisl, Chung-Yu Chang, Ning Zhang та Ry Young. "The C-Terminal Sequence of the λ Holin Constitutes a Cytoplasmic Regulatory Domain". Journal of Bacteriology 181, № 9 (1999): 2922–29. http://dx.doi.org/10.1128/jb.181.9.2922-2929.1999.

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ABSTRACT The C-terminal domains of holins are highly hydrophilic and contain clusters of consecutive basic and acidic residues, with the overall net charge predicted to be positive. The C-terminal domain of λ S was found to be cytoplasmic, as defined by protease accessibility in spheroplasts and inverted membrane vesicles. C-terminal nonsense mutations were constructed in S and found to be lysis proficient, as long as at least one basic residue is retained at the C terminus. In general, the normal intrinsic scheduling of S function is deranged, resulting in early lysis. However, the capacity o

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Zhu, Shuanghong, Chen Mei, Hongyan Tong, and Jie Jin. "R-2HG/KDM2B/RIPK1 Signaling Mediates Necroptosis in Myelodysplastic Syndromes." Blood 134, Supplement_1 (2019): 5049. http://dx.doi.org/10.1182/blood-2019-125482.

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Introduction: Myelodysplastic syndromes (MDS) are a group of heterogeneous hematopoietic stem cell disorders and manifested as ineffective hematopoiesis, refractory cytopenia and a propensity to evolve into acute myeloid leukemia (AML). Isocitrate dehydrogenase 1/2 (IDH1/2) mutations are common in both MDS and AML. Mutated IDH produces R-2-hydroxyglutarate (R-2HG) which inhibits multiple α-ketoglutarate/α-KG-dependent dioxygenases by competing against α-KG binding. Recent studies have demonstrated that R-2-HG can abrogates leukemic growth and induce leukemia cell death. Several nonapoptotic ce

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Palanirajan, Santosh Kumar, Ulaganathan Sivagnanam, Sowmiya Murugan, and Sathyanarayana N. Gummadi. "In vitro reconstitution and biochemical characterization of human phospholipid scramblase 3: phospholipid specificity and metal ion binding studies." Biological Chemistry 399, no. 4 (2018): 361–74. http://dx.doi.org/10.1515/hsz-2017-0309.

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AbstractHuman phospholipid scramblase 3 (hPLSCR3) is a single pass transmembrane protein that plays a vital role in fat metabolism, mitochondrial function, structure, maintenance and apoptosis. The mechanism of action of scramblases remains still unknown, and the role of scramblases in phospholipid translocation is heavily debated. hPLSCR3 is the only member of scramblase family localized to mitochondria and is involved in cardiolipin translocation at the mitochondrial membrane. Direct biochemical evidence of phospholipid translocation by hPLSCR3 is yet to be reported. Functional assay in synt

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Liu, Dingxie, Zhi Liu, Stephen Condouris, and Mingzhao Xing. "BRAF V600E Maintains Proliferation, Transformation, and Tumorigenicity of BRAF-Mutant Papillary Thyroid Cancer Cells." Journal of Clinical Endocrinology & Metabolism 92, no. 6 (2007): 2264–71. http://dx.doi.org/10.1210/jc.2006-1613.

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Abstract Context: Although the BRAF V600E mutant can initiate the formation of papillary thyroid cancer (PTC), it is unclear whether it is required to maintain cell proliferation, transformation, and tumor growth of BRAF mutation-harboring PTC. Objective: The aim of the study was to investigate whether BRAF V600E is required for the proliferation, transformation, and tumorigenicity of BRAF mutation-harboring PTC cells. Design: We addressed this issue using BRAF small interference RNA (siRNA) to transfect stably several BRAF mutation-harboring PTC cell lines, isolated clones with stable suppres

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Sorescu, George P., Lora W. Forman та Douglas V. Faller. "Effect of inhibition of protein kinase C delta (PKCδ) on pancreatic cancer cells." Journal of Clinical Oncology 30, № 15_suppl (2012): e14591-e14591. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e14591.

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e14591 Background: 93% of pancreatic cancers have activating mutations in the K-Ras gene. We have previously shown that mutated, constitutively-activated Ras is lethal to cells if an essential Ras-driven survival pathway is disrupted by suppression of PKCδ. PKCδ has various cellular functions, but is not required for the survival of normal cells and its inhibition in vitro or in vivo has no known adverse effects. Signal transducer and activator of transcription 3 (STAT3) is constitutive driver of many solid cancers, including pancreatic cancers. STAT3 requires phosphorylation of Tyr 705 for ac

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González, Jorge L., Christopher J. Russo, Dan Goldowitz, Hope O. Sweet, Muriel T. Davisson, and Christopher A. Walsh. "Birthdate and Cell Marker Analysis of Scrambler: A Novel Mutation Affecting Cortical Development with a Reeler-Like Phenotype." Journal of Neuroscience 17, no. 23 (1997): 9204–11. http://dx.doi.org/10.1523/jneurosci.17-23-09204.1997.

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Sakuragi, Takaharu, Ryuta Kanai, Akihisa Tsutsumi, et al. "The tertiary structure of the human Xkr8–Basigin complex that scrambles phospholipids at plasma membranes." Nature Structural & Molecular Biology 28, no. 10 (2021): 825–34. http://dx.doi.org/10.1038/s41594-021-00665-8.

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AbstractXkr8–Basigin is a plasma membrane phospholipid scramblase activated by kinases or caspases. We combined cryo-EM and X-ray crystallography to investigate its structure at an overall resolution of 3.8 Å. Its membrane-spanning region carrying 22 charged amino acids adopts a cuboid-like structure stabilized by salt bridges between hydrophilic residues in transmembrane helices. Phosphatidylcholine binding was observed in a hydrophobic cleft on the surface exposed to the outer leaflet of the plasma membrane. Six charged residues placed from top to bottom inside the molecule were essential fo

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Liu, Yu, Zheng Qin, Xiaofeng Liao, and Jiahui Wu. "A Chaotic Image Encryption Scheme Based on Hénon–Chebyshev Modulation Map and Genetic Operations." International Journal of Bifurcation and Chaos 30, no. 06 (2020): 2050090. http://dx.doi.org/10.1142/s021812742050090x.

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Thanks to the complex characteristics of ergodicity, pseudo-randomness and sensitivity in initial conditions, chaotic systems have been widely applied in the field of cryptography. By cascading the Hénon map and the Chebyshev map, a new two-dimensional Hénon–Chebyshev modulation map (2D-HCMM) is proposed in this paper. Several methods of objective assessment, including phase diagrams, bifurcation diagrams, Lyapunov exponents and information entropy, are utilized to analyze the dynamics of the 2D-HCMM. The results show that the 2D-HCMM possesses better ergodicity and unpredictability, with larg

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Rampias, Theodoros, Athina Giagini, Hiroumi Matsuzaki, et al. "Genetic alterations in HRAS gene in relation to outcome and response to cetuximab in head and neck squamous cell carcinoma." Journal of Clinical Oncology 30, no. 15_suppl (2012): 5574. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.5574.

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5574 Background: Aberrant signaling through RAS/MAPK pathway is implicated in resistance to EGFR-targeted agents in cancer. Genetic alterations in Hras gene such as mutations and specific polymorphisms are associated with aggressive phenotype in several smoking-related malignancies. We sought to determine the impact of Hras genetic alterations on response to cetuximab and prognosis in HNSCC. Methods: Clinical outcome according to Hras status was investigated in a retrospective cohort of 140 HNSCC specimens. Primary endpoints were overall survival (OS) and disease-free survival (DFS) and second

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He, Quan. "Tafazzin knockdown causes hypertrophy of neonatal ventricular myocytes." American Journal of Physiology-Heart and Circulatory Physiology 299, no. 1 (2010): H210—H216. http://dx.doi.org/10.1152/ajpheart.00098.2010.

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Mutation of the mitochondrial protein tafazzin causes dilated cardiomyopathy in Barth syndrome. We employed an adenovirus as a vector to transfer tafazzin small hairpin RNA (shRNA) into neonatal ventricular myocytes (NVMs) to investigate the effects of tafazzin knockdown. The tafazzin shRNA adenovirus consistently knocked down tafazzin mRNA and lowered cardiolipin while significantly decreasing the production of ATP by the mitochondria. The phosphorylation of AMP-activated protein kinase and mitochondrial density were both increased in tafazzin knockdown NVMs compared with scrambled shRNA cont

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Di Zanni, Eleonora, Nicole Rychlik, Zhang Feng, Elizabeth Kim, and Alessio Accardi. "BPS2025 - Cryo-EM structures and functional characterization of the human TMEM16E scramblase and GDD associated mutations." Biophysical Journal 124, no. 3 (2025): 285a. https://doi.org/10.1016/j.bpj.2024.11.1608.

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Di Zanni, Eleonora, Nicole Rychlik, Zhang Feng, Elizabeth Kim, and Alessio Accardi. "BPS2025 - Cryo-EM structures and functional characterization of the human TMEM16E scramblase and GDD-associated mutations." Biophysical Journal 124, no. 3 (2025): 374a—375a. https://doi.org/10.1016/j.bpj.2024.11.2027.

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