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Journal articles on the topic 'Point accepted mutation'

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Published: 3 June 2025

Last updated: 31 July 2025

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1

Jyotshna, Dongardive, and Abraham Siby. "BRAIN Journal - Secondary Structure Prediction of Protein using Resilient Back Propagation Learning Algorithm." BRAIN - Broad Research in Artificial Intelligence and Neuroscience 6, no. 1-2 (2015): 22–29. https://doi.org/10.5281/zenodo.1044169.

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ABSTRACT The paper proposes a neural network based approach to predict secondary structure of protein. It uses Multilayer Feed Forward Network (MLFN) with resilient back propagation as the learning algorithm. Point Accepted Mutation (PAM) is adopted as the encoding scheme and CB396 data set is used for the training and testing of the network. Overall accuracy of the network has been experimentally calculated with different window sizes for the sliding window scheme and by varying the number of units in the hidden layer. The best results were obtained with eleven as the window size and seven as

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Aoki, Yoshinao, Maki Hashimoto, and Shunji Suzuki. "Emergence of Single Point Mutation in PvCesA3, Conferring Resistance to CAA Fungicides, in Plasmopara viticola Populations in Japan." Plant Health Progress 14, no. 1 (2013): 51. http://dx.doi.org/10.1094/php-2013-0729-01-br.

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As far as we know, there is no report of fungicide-resistant Plasmopara viticola in Japan. In the present study, we detected a single point mutation in the PvCesA3 of P. viticola sampled from a Japanese vineyard, which conferred resistance to mandipropamid. The emergence of the mandipropamid-resistant PvCesA3 allele may lead to the spread of mandipropamid-resistant P. viticola in vineyards all over Japan in the near future. Accepted for publication 23 April 2012. Published 29 July 2013.

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3

Yu, Yongfeng, Rongrong Chen, Jun Zhao, Xin Yi, and Shun Lu. "Analysis of canonical and noncanonical splicing site mutation of MET that causes exon 14 skipping." Journal of Clinical Oncology 38, no. 15_suppl (2020): e21513-e21513. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e21513.

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e21513 Background: The hepatocyte growth factor receptor gene ( MET) exon 14 skipping ( METex14) has been wildly accepted as a driver alteration in lung cancer targetable by tyrosine kinase inhibitors (TKIs) such as crizotinib. While it is easy to interpret canonical splicing site mutations, it is more controversial to interpret noncanonical splicing site mutations. Methods: Hybrid capture–based next generation sequencing of 59-1021 genes including MET was performed at the request of individual treating physicians. The mutation profiling of MET were retrospectively analyzed. Results: Of 3500 l

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Zheng, Weijie, Mingfeng Li, Renzhong Deng, and Benjamin Doerr. "How to Use the Metropolis Algorithm for Multi-Objective Optimization?" Proceedings of the AAAI Conference on Artificial Intelligence 38, no. 18 (2024): 20883–91. http://dx.doi.org/10.1609/aaai.v38i18.30078.

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The Metropolis algorithm can cope with local optima by accepting inferior solutions with suitably small probability. That this can work well was not only observed in empirical research, but also via mathematical runtime analyses on single-objective benchmarks. This paper takes several steps towards understanding, again via theoretical means, whether such advantages can also be obtained in multi-objective optimization. The original Metropolis algorithm has two components, one-bit mutation and the acceptance strategy, which allows accepting inferior solutions. When adjusting the acceptance strat

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McGlennen, Ronald C., and Nigel S. Key. "Clinical and Laboratory Management of the Prothrombin G20210A Mutation." Archives of Pathology & Laboratory Medicine 126, no. 11 (2002): 1319–25. http://dx.doi.org/10.5858/2002-126-1319-calmot.

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Abstract Objective.—To make recommendations regarding the appropriate evaluation for the prothrombin G20210A mutation, as reflected by published evidence and the consensus opinion of recognized experts in the field. Data Sources.—Review of the medical literature, primarily since 1996. Data Extraction and Synthesis.—After an initial assessment of the literature, key points defining the condition, and review of the clinical study design, a draft manuscript was prepared and circulated to every participant in the College of American Pathologists Conference on Diagnostic Issues in Thrombophilia bef

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Mah, Jean K., Kathryn Selby, Craig Campbell, et al. "A Population-Based Study of Dystrophin Mutations in Canada." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 38, no. 3 (2011): 465–74. http://dx.doi.org/10.1017/s0317167100011896.

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AbstractIntroduction:We carried out a population-based study of dystrophin mutations in patients followed by members of the Canadian Paediatric Neuromuscular Group (CPNG) over a ten-year period.Objectives:We aimed to describe the changes in diagnostic testing for dystrophinopathy and to determine the frequency of dystrophin mutations from 2000 to 2009.Methods:De-identified data containing the clinical phenotypes, diagnostic methods, and mutational reports from dystrophinopathy patients followed by CPNG centres from January 2000 to December 2009 were analyzed using descriptive statistics.Result

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Nikolova, D., A. Yordanov, V. Damyanova, A. Radinov, and D. Toncheva. "Janus kinase V617F mutation detection in patients with myelofibrosis." Balkan Journal of Medical Genetics 22, no. 1 (2019): 57–60. http://dx.doi.org/10.2478/bjmg-2019-0007.

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AbstractMyelofibrosis (MF) is characterized by a presence of an extra fibrous tissue in the bone marrow and additional hematopoiesis. The somatic mutation in the Janus kinase 2 (JAK2) gene (V617F) occurs gradually and is detected in about 50.0% of myelofibrosis or essential thrombo-cytopenia (ET) patients. Our aim was to determine the genotype status according to the carriers of the V617F mutation in patients with MF at the Hematology Ward of the University Hospital "Ivan Rilski" in Sofia, Bulgaria. DNA samples were isolated from venous blood of patients with various hematological disorders. D

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KREBS, WERNER G., and PHILIP E. BOURNE. "STATISTICAL AND VISUAL MORPH MOVIE ANALYSIS OF CRYSTALLOGRAPHIC MUTANT SELECTION BIAS IN PROTEIN MUTATION RESOURCE DATA." Journal of Bioinformatics and Computational Biology 02, no. 01 (2004): 61–75. http://dx.doi.org/10.1142/s0219720004000478.

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Structural studies of the effects of non-silent mutations on protein conformational change are an important key in deciphering the language that relates protein amino acid primary structure to tertiary structure. Elsewhere, we presented the Protein Mutant Resource (PMR) database, a set of online tools that systematically identified groups of related mutant structures in the Protein DataBank (PDB), accurately inferred mutant classifications in the Gene Ontology using an innovative, statistically rigorous data-mining algorithm with more general applicability, and illustrated the relationship of

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9

Dahlbäck, B. "Early days of APC resistance and FV Leiden." Hämostaseologie 28, no. 03 (2008): 103–9. http://dx.doi.org/10.1055/s-0037-1617167.

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SummaryVenous thrombosis is a major medical problem annually affecting millions of individuals worldwide. It is a typical multifactorial disease, the pathogenesis involving both environmental and genetic risk factors. A single point mutation in the gene of coagulation factor V (FV), which results in the replacement of Arg506 with a Gln (FV Leiden) is the most common genetic risk factor known to date. The anti - coagulant activated protein C (APC) regulates the activity of FVa by cleaving several sites in FVa, and the Arg506 is one of them. APC resistance, which is the consequence of the FV Arg

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10

Morin, Ryan D., Maria Mendez-Lago, Andrew J. Mungall, et al. "Identification of Genes Frequently Mutated In FL and DLBCL with Transcriptome, Genome and Exome Sequencing." Blood 116, no. 21 (2010): 804. http://dx.doi.org/10.1182/blood.v116.21.804.804.

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Abstract Abstract 804 Introduction: Follicular lymphoma (FL) and diffuse large B cell lymphoma (DLBCL) are the two most common types of non Hodgkin lymphoma (NHL). It is widely accepted that DLBCL can be divided into two major subtypes using gene expression profiling: germinal center B-cell (GCB) and activated B-cell (ABC). Both FL and the GCB subtype of DLBCL derive from germinal center B cells and have been found to share some common mutational events such as translocations leading to the deregulation of the BCL2 oncogene and mutations affecting a single tyrosine (Y641) in the histone methyl

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11

Spinelli, Roberta, Rocco Piazza, Hima Raman, et al. "Identification of Novel Point Mutations in Splicing Sites by the Integration of Exome and RNA Sequencing Data in Myeloproliferative Diseases." Blood 118, no. 21 (2011): 2462. http://dx.doi.org/10.1182/blood.v118.21.2462.2462.

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Abstract Abstract 2462 Point mutations in intronic regions near mRNA splice junctions can affect mRNA splicing, altering the resulting RNA sequence. The molecular characterization of in-frame or out-of-frame splicing variants in cancer samples can potentially assist in the molecular characterization of tumors. The aim of this study was to identify mutations located in the 5' or 3' exon-intron borders that affect RNA splicing using whole-exome sequencing analysis, a technique that targets coding sequences but also include the nearby intronic regions. In order to identify novel (in-frame and out

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Dewan, Ramita, Alexander Pemov, Nancy F. Hansen, et al. "Whole exome sequencing and copy-number variation analysis of 20 NF2-associated spinal and cranial meningiomas." Journal of Clinical Oncology 35, no. 15_suppl (2017): 2051. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.2051.

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2051 Background: Neurofibromatosis type 2 is a heritable tumor predisposition syndrome characterized by the growth of multiple tumor types in the nervous system, including bilateral vestibular schwannomas, meningiomas and ependymomas. Recent genomic sequencing studies have revealed that NF2 inactivation is the most frequent genetic event in sporadic meningiomas. In line with Knudson’s hypothesis, it is accepted that somatic inactivation of the wildtype NF2 allele initiates tumor growth in NF2 patients, but little is known of what other genes or pathways influence meningioma tumorigenesis. Meth

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Claessens, Frank, Claude Libert, Jorma Palvimo, and Sarah El Kharraz. "OR07-6 Disrupting DNA-binding Domain Dimerization In The Androgen Receptor In Mice Results In a Partial Androgen Insensitivity Model." Journal of the Endocrine Society 6, Supplement_1 (2022): A724—A725. http://dx.doi.org/10.1210/jendso/bvac150.1493.

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Abstract The androgen receptor (AR) plays a crucial role in the development and maintenance of the male phenotype, as shown in patients with androgen insensitivity syndrome (AIS). The AR is a nuclear receptor that needs to homodimerize to execute its role as transcription factor. Dimerization can occur through three different modes: via the DNA-binding domain (DBD), via the ligand-binding domain and via an interaction between the LBD and the aminoterminal domain. Dimerization via the DBD is very well known and occurs through the D-box located in the second zinc finger. DBD dimerization is gene

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Schiemann, U., R. Assert, D. Moskopp та ін. "Analysis of a protein kinase C-α mutation in human pituitary tumours". Journal of Endocrinology 153, № 1 (1997): 131–37. http://dx.doi.org/10.1677/joe.0.1530131.

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Abstract It is generally accepted that protein kinase C-α (PKC-α) is an important enzyme in the cellular regulation of growth and differentiation by phosphorylating proteins. Recent studies have described a point mutation of PKC-α (position 908 of the genetic sequence, codon GAC becoming GGC) in invasive human pituitary tumours which leads to an exchange of amino acids in the protein. We investigated 11 human pituitary tumours to evaluate the data obtained previously. cDNA was subcloned and up to ten individual clones were sequenced from each tumour, resulting in 85 clones analyzed in total. A

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Malik, Ngo, Bosma, and Rubin. "A Single Point Mutation in the Mumps V Protein Alters Targeting of the Cellular STAT Pathways Resulting in Virus Attenuation." Viruses 11, no. 11 (2019): 1016. http://dx.doi.org/10.3390/v11111016.

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Mumps virus (MuV) is a neurotropic non-segmented, negative-stranded, enveloped RNA virus in the Paramyxovirus family. The 15.4 kb genome encodes seven genes, including the V/P, which encodes, among other proteins, the V protein. The MuV V protein has been shown to target the cellular signal transducer and activator of transcription proteins STAT1 and STAT3 for proteasome-mediated degradation. While MuV V protein targeting of STAT1 is generally accepted as a means of limiting innate antiviral responses, the consequence of V protein targeting of STAT3 is less clear. Further, since the MuV V prot

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16

Ostrander, Jesse C., Richard B. Todd та Megan M. Kennelly. "Resistance of Kansas Sclerotinia homoeocarpa Isolates to Thiophanate-Methyl and Determination of Associated β-Tubulin Mutation". Plant Health Progress 15, № 2 (2014): 80–84. http://dx.doi.org/10.1094/php-rs-13-0120.

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Eighty-two isolates of Sclerotinia homoeocarpa from 12 sites in Kansas were evaluated for in vitro sensitivity to the methyl benzimidazole carbamate (MBC) fungicide thiophanate-methyl at the discriminatory dose of 10 μg/ml. Seventeen isolates were sensitive to thiophanate-methyl and the remaining isolates were resistant. Of the 65 isolates from golf course putting greens, two isolates were sensitive and the remaining 63 isolates were resistant. Six resistant and five sensitive isolates were also evaluated in greenhouse assays on fungicide-treated plants. The isolates that were sensitive to thi

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17

Aoki, Yoshinao, Yumi Kawagoe, Nozomi Fujimori, Sayumi Tanaka, and Shunji Suzuki. "Monitoring of a Single Point Mutation in the PvCesA3 Allele Conferring Resistance to Carboxylic Acid Amide Fungicides in Plasmopara viticola Populations In Yamanashi Prefecture, Japan." Plant Health Progress 16, no. 2 (2015): 84–87. http://dx.doi.org/10.1094/php-rs-14-0041.

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The use of the carboxylic acid amide (CAA) fungicide mandipropamid to manage grapevine downy mildew in vineyards in Japan has been increasing since 2010, because of widespread quinone outside inhibitor fungicide resistance in the Plasmopara viticola population. However, CAA fungicide resistance in P. viticola is becoming a serious problem worldwide. In 2013, we monitored for the presence of a single point mutation at codon 1105 of the cellulose synthase gene PvCesA3, which confers resistance to mandipropamid in P. viticola samples collected from four vineyards in Yamanashi prefecture in Japan.

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18

Hartatik, Sri, and Dwi Mai Abdul Imam Buchori. "The Increase of National Sugar Production as a Form of Achieving the 2^nd SDGs through Mutation Breeding." IOP Conference Series: Earth and Environmental Science 1177, no. 1 (2023): 012009. http://dx.doi.org/10.1088/1755-1315/1177/1/012009.

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Abstract Bululawang has been cultivated under increasing environmental pressures every year. Environmental pressures are accepted as one of the impacts of global climate change. This condition will cause a decrease in genetic ability, which can impact decreasing yields. The achievement of point 2.4 SDGs, especially in sugarcane, can be achieved through a sugarcane plant breeding program to improve and increase the genetic quality of several sugarcane varieties often cultivated in Indonesia. Mutation breeding to create high-yielding sugarcane varieties has been carried out by the Plant Breeding

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Grossmann, Vera, Susanne Schnittger, Sonja Schindela, et al. "Robust and Sensitive Detection of Insertions, Deletions and Point Mutations In CEBPA, a GC-Rich Content Gene, Using 454 Next-Generation Deep-Sequencing (NGS)." Blood 116, no. 21 (2010): 1657. http://dx.doi.org/10.1182/blood.v116.21.1657.1657.

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Abstract Abstract 1657 CCAAT/enhancer binding protein alpha (CEBPA) is an essential transcription factor for granulocytic differentiation and encodes a protein exclusively expressed in the myelomonocytic lineage. Mutations are seen in 6% to 19% of acute myeloid leukemia (AML) and biallelic CEBPA mutations have been associated with a favorable clinical outcome. Today, screening of CEBPA mutations in AML patients is usually performed combining fragment length analysis to detect insertions and deletions, denaturing high-performance liquid chromatography (DHPLC), and subsequent direct Sanger seque

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Muramatsu, Hideki, Hirotoshi Sakaguchi, Xinan Wang, et al. "Clinical and Genetic Characterization Of Patients With C-CBL Mutated Juvenile Myelomonocytic Leukemia By Whole-Exome/Deep Sequencing." Blood 122, no. 21 (2013): 1564. http://dx.doi.org/10.1182/blood.v122.21.1564.1564.

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Abstract Introduction Juvenile myelomonocytic leukemia (JMML) is a rare pediatric myeloid neoplasm clinically characterized by excessive proliferation of myelomonocytic cells and hypersensitivity to granulocyte–macrophage colony-stimulating factor (GM-CSF). A cardinal genetic feature of JMML is frequent somatic and/or germline mutations of RAS pathway genes involved in GM-CSF signal transduction, such as NRAS, KRAS, PTPN11, NF1, and c-CBL, which are found in a mutually exclusive manner in >80% affected children. Patients and Methods We examined 108 children (71 boys and 37 girls) diagnosed

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Muramatsu, Hideki, Hirotoshi Sakaguchi, Xinan Wang, et al. "Clinical and Genetic Characterization Of Patients With C-CBL Mutated Juvenile Myelomonocytic Leukemia By Whole-Exome/Deep Sequencing." Blood 122, no. 21 (2013): 1565. http://dx.doi.org/10.1182/blood.v122.21.1565.1565.

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Abstract Introduction Juvenile myelomonocytic leukemia (JMML) is a rare pediatric myeloid neoplasm clinically characterized by excessive proliferation of myelomonocytic cells and hypersensitivity to granulocyte–macrophage colony-stimulating factor (GM-CSF). A cardinal genetic feature of JMML is frequent somatic and/or germline mutations of RAS pathway genes involved in GM-CSF signal transduction, such as NRAS, KRAS, PTPN11, NF1, and c-CBL, which are found in a mutually exclusive manner in >80% affected children. Patients and Methods We examined 108 children (71 boys and 37 girls) diagnosed

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Riedmayr, Lisa M., Sybille Böhm, Martin Biel, and Elvir Becirovic. "Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site." Human Molecular Genetics 29, no. 2 (2019): 295–304. http://dx.doi.org/10.1093/hmg/ddz291.

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Abstract The c.620 T &gt; G mutation in rhodopsin found in the first mapped autosomal dominant retinitis pigmentosa (adRP) locus is associated with severe, early-onset RP. Intriguingly, another mutation affecting the same nucleotide (c.620 T &gt; A) is related to a mild, late-onset RP. Assuming that both mutations are missense mutations (Met207Arg and Met207Lys) hampering the ligand-binding pocket, previous work addressed how they might differentially impair rhodopsin function. Here, we investigated the impact of both mutations at the mRNA and protein level in HEK293 cells and in the m

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Kucine, Nicole, Ross L. Levine, and James B. Bussel. "Issues in Categorization and Management of Pediatric Patients with Myeloproliferative Neoplasms." Blood 124, no. 21 (2014): 1843. http://dx.doi.org/10.1182/blood.v124.21.1843.1843.

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Abstract Myeloproliferative Neoplasms (MPN) are well characterized in adults, with symptoms including thrombotic episodes, severe bleeding episodes, splenomegaly, and transformation to AML. Accepted treatment algorithms are available for management and multiple clinical trials are being done in adult patients. Much has been done to understand the pathogenesis in adults, and mutations in JAK2, MPL, and most recently CALR are established as causative lesions in these disorders. In contrast, knowledge of these disorders in children is more rudimentary, with limited information available regarding

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Bolat, Ecem, Furkan Eker, Selin Yılmaz, et al. "BCM-7: Opioid-like Peptide with Potential Role in Disease Mechanisms." Molecules 29, no. 9 (2024): 2161. http://dx.doi.org/10.3390/molecules29092161.

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Bovine milk is an essential supplement due to its rich energy- and nutrient-rich qualities. Caseins constitute the vast majority of the proteins in milk. Among these, β-casein comprises around 37% of all caseins, and it is an important type of casein with several different variants. The A1 and A2 variants of β-casein are the most researched genotypes due to the changes in their composition. It is accepted that the A2 variant is ancestral, while a point mutation in the 67th amino acid created the A1 variant. The digestion derived of both A1 and A2 milk is BCM-7. Digestion of A2 milk in the huma

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Kocova, M., D. Plaseska-Karanfilska, P. Noveski та M. Kuzmanovska. "Novel genotype in two siblings with 5-α-reductase 2 deficiency: Different clinical course due to the time of diagnosis". Balkan Journal of Medical Genetics 22, № 2 (2019): 69–76. http://dx.doi.org/10.2478/bjmg-2019-0022.

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AbstractSteroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly characterized patients from the Republic of North Macedonia (RN Macedonia) with a different clinical course due to the time of the diagnosis. Diagnosis of Patient 1 was based upon the detection of bilateral inguinal testes and testosterone/dihidro

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Ahmed, Saad Z., Michelle O'Rourke, Vince Jenkins, Caitriona Keenan, Irene Ellen Regan, and Beatrice Nolan. "Similar Pattern of Increase in FIX Levels in Female Carriers and Males with Hemophilia B Leyden." Blood 136, Supplement 1 (2020): 19–20. http://dx.doi.org/10.1182/blood-2020-142091.

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Hemophilia B is a congenital X-linked recessive bleeding disorder that occurs as a result of mutations at the long (q) arm of the X chromosome at position 27. Hemophilia B affects 1 in 30,000 males; however the incidence in Ireland is more than double the international incidence and affects 1 in 12,500 male births. Hemophilia B Leyden is a sub-type of hemophilia B first recognized in 1970 in Leyden in the Netherlands. There are more than 20 genetic mutations that result in hemophilia B Leyden. These mutations cluster at three regions within the proximal promoter region of the F9 gene including

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27

Tabary, Serge. "De l’antijudaïsme religieux à l’antisémitisme politique." Revue d’Allemagne et des pays de langue allemande 32, no. 2 (2000): 177–88. http://dx.doi.org/10.3406/reval.2000.5585.

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It is generally accepted that the concept of «race», whatever the criteria used for its definition, can be considered as showing a shift from essentially religious anti-Judaism and the advent of anti-Semitism as a way of thinking. The introduction of the concept of «race» would not be enough to eliminate the religious dimension which remains crucial to anti-Semitism. But unlike anti-Judaism, anti-Semitism does not serve an established order. Far from being a return to past values, anti-Semitism goes well beyond them. It is a religion in its own right. Therefore, instead of breaking away from r

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Shen, Shuhong, Xiang Wang, JingYan Tang, et al. "Could Anthracycline be Replaced in Chemotherapy for Acute Myeloid Leukemia? Randomized Clinical Trial of Homoharringtonine As Frontline Agent to Treat Pediatric AML." Blood 124, no. 21 (2014): 975. http://dx.doi.org/10.1182/blood.v124.21.975.975.

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Abstract Method: From Jan. 1st , 2009 to Dec. 31st, 2013, 153 patients was diagnosed to be acute myeloid leukemia (non acute promyelocytic leukemia) (AML). 152 of them were willing to be recruited in the randomized clinical trial. After informed consent, randomly divided group A and group B were treated with regimens A and B accordingly. In regimen A, total 240mg/m2 daunorubicin and 60 mg/m2 mitoxantrone were given in total 6 cycles of intensive chemotherapy along with cytarabine and/or etopside; while in regimen B, the anthracycline was substituted for homoharringtonine except the first cycle

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29

Datz, Craig A., Robert C. Backus, and Kevin L. Fritsche. "Dietary diacylglycerol oil has no effect on hypertriacylglycerolaemia in lipoprotein lipase-deficient cats." British Journal of Nutrition 102, no. 7 (2009): 1024–29. http://dx.doi.org/10.1017/s0007114509353234.

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A commercially available vegetable oil containing a high concentration (87 %, w/w) of diacylglycerol (DAG) has been investigated in humans and animals for potential beneficial effects in reducing serum TAG concentrations in fasting and postprandial states. Effects of DAG oil as a sole dietary fat source (25 % metabolisable energy) were evaluated in a feline model of hypertriacylglycerolaemia. Eleven adult (1·5 (sem0·1) years) male cats deficient of lipoprotein lipase (LPL) catalytic activity from a heritable point mutation of theLPLgene were acclimatised to a semi-purified diet containing TAG

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30

Lin, Rui, Yue Pu, and Li Mao. "Detection of low abundant mutants from circulating tumor DNA of plasma, pleural effusion, and cerebrospinal fluid of lung cancer patients using a novel mutant-capture enrichment approach." Journal of Clinical Oncology 37, no. 15_suppl (2019): e14520-e14520. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e14520.

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e14520 Background: In the era of precision medicine, liquid biopsy analysis is well accepted based on advantages including availability, non-invasiveness, and non-heterogeneity. However, the circulating tumor DNA (ctDNA) in liquid biopsy is diluted by a large excess of wild-type alleles, which necessitates high sensitivity approach for ctDNA detection. In addition, ctDNA analysis from different liquid biopsy samples need to be evaluated. Methods: We have developed a novel mutant-capture based method, termed PErsonalized Analysis of Cancer (PEAC), for high sensitivity detection of cancer driver

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Thurmes, Paul J., and David P. Steensma. "Molecularly Confirmed Polycythemia Vera with Elevated Endogenous Serum Erythropoietin Level: Diagnostic Algorithms Revisited." Blood 106, no. 11 (2005): 4964. http://dx.doi.org/10.1182/blood.v106.11.4964.4964.

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Abstract Background: It is widely accepted that an elevated serum endogenous erythropoietin (EPO) level in a patient presenting with erythrocytosis and a genuinely increased red cell mass makes a diagnosis of polycythemia vera (PV) extremely unlikely (Mossuz et al Haematologica2004:1194; Tefferi and Gilliland Mayo Clin Proc2005:947.) However, in the absence of a definitive molecular marker for PV, there is often uncertainty, especially when PV-associated clinical features are present. Here we describe 4 patients presenting with Budd-Chiari syndrome (BCS) and erythrocytosis who had EPO levels w

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Suzuki, Kensaku, and Hidenori Onodera. "Adaptation of a Chlamydomonas mutant with reduced rate of photorespiration to different concentrations of CO2." Canadian Journal of Botany 83, no. 7 (2005): 834–41. http://dx.doi.org/10.1139/b05-068.

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It has been widely accepted that Chlamydomonas reinhardtii cells utilize inorganic carbon very efficiently for photosynthesis by operating a CO2-concentrating mechanism (CCM) under conditions of limited CO2. To help define the mechanism, 7FR2N, one of the suppressor double mutants of phosphoglycolate phosphatase-deficient (pgp1) mutants that have a reduced photorespiration rate (RPR) was crossed with wild-type strains to generate the strain N21 as a single RPR mutant. The comparison of photosynthetic characteristics with wild-type strains after the cells adapted to different concentrations of

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Vaibhav, Divyansh, Prem S. Panda, Ipsita Debata, and Ashish K. Sinha. "Morbidity pattern and impact of hydroxyurea therapy among sickle cell patients in Raipur district of Chhattisgarh." Journal of Family Medicine and Primary Care 13, no. 5 (2024): 1825–29. http://dx.doi.org/10.4103/jfmpc.jfmpc_1490_23.

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ABSTRACT Background: Sickle cell disease (SCD) is a disorder marked by a single-point mutation in the beta-globin gene. Hydroxyurea is a globally accepted disease-modifying agent that sounds to be effective in managing clinically and probably preventing complications of SCD. The current study aims to document the morbidity pattern and impact of Hydroxyurea therapy in the Outpatient Department of Sickle Cell Institute, Raipur. Materials and Methods: This cross-sectional study was conducted among randomly selected sixty-five patients (adults and children above six years). After obtaining informe

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Reitzel, N. E., M. Sherlock, M. Zachos, J. Arredondo, and E. Ratcliffe. "A173 RECOGNIZING RARE PRESENTATIONS OF POLYPOSIS SYNDROMES AND THEIR ASSOCIATED MALIGNANCIES IN PEDIATRIC PATIENTS." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (2020): 38–39. http://dx.doi.org/10.1093/jcag/gwz047.172.

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Abstract Background There is a range of polyposis syndromes and presentations in pediatrics. There are also associated extra-colonic malignancies of which to be cognizant when orchestrating the initial work-up of the various polyposis syndromes. Aims To use case review to highlight the importance of recognizing the breadth of presentations of polyposis syndromes in pediatrics. Methods Two recent pediatric presentations of polyposis with extra-intestinal manifestations were identified, chart review completed, and compared with newly published ESPGHAN guidelines. Results Two patients with intest

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Bhattacharya, Surajit, and R. K. Mishra. "Fibrous dysplasia and cherubism." Indian Journal of Plastic Surgery 48, no. 03 (2015): 236–48. http://dx.doi.org/10.4103/0970-0358.173101.

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ABSTRACTFibrous dysplasia (FD) is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may pres

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Inam, Haider, Scott Leighow, and Justin Pritchard. "Abstract B014: Massively parallel functional assessment of label-free mutant pools is a universal approach to parametrize mechanistic models of drug resistance evolution." Cancer Research 82, no. 10_Supplement (2022): B014. http://dx.doi.org/10.1158/1538-7445.evodyn22-b014.

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Abstract Systematically scanning the effects of amino acid substitutions across a protein is a powerful technique in protein engineering, synthetic biology, and the study of drug resistance. In general, these selection experiments increase growth rates to select for mutants. Current methods use molecular barcodes to circumvent the resolution barriers imposed by conventional NGS sequencing of point mutations in mutant pools. Barcodes introduce synonymous mutations in the genome and assume neutrality, but it is now well accepted that synonymous mutations affect protein function. In a different a

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Tanaka, Motoko, Bridget A. Robinson, Kasana Chutiraka, Clair D. Geary, Jonathan C. Reed, and Jaisri R. Lingappa. "Mutations of Conserved Residues in the Major Homology Region Arrest Assembling HIV-1 Gag as a Membrane-Targeted Intermediate Containing Genomic RNA and Cellular Proteins." Journal of Virology 90, no. 4 (2015): 1944–63. http://dx.doi.org/10.1128/jvi.02698-15.

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ABSTRACTThe major homology region (MHR) is a highly conserved motif that is found within the Gag protein of all orthoretroviruses and some retrotransposons. While it is widely accepted that the MHR is critical for assembly of HIV-1 and other retroviruses, how the MHR functions and why it is so highly conserved are not understood. Moreover, consensus is lacking on when HIV-1 MHR residues function during assembly. Here, we first addressed previous conflicting reports by confirming that MHR deletion, like conserved MHR residue substitution, leads to a dramatic reduction in particle production in

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Watanabe, Naohide, Hideaki Nakajima, Atsushi Oda, Yasuo Ikeda, and Makoto Handa. "Phosphoinositide3-Kinase Independent Regulation of Bruton’s Tyrosine Kinase in Platelet Immunoreceptor Signaling." Blood 104, no. 11 (2004): 3536. http://dx.doi.org/10.1182/blood.v104.11.3536.3536.

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Abstract Phosphoinositide 3-kinase (PI3K)-dependent activation of Bruton’s tyrosine kinase (Btk) is an indispensable step of B cell antigen receptor (BCR)-mediated signaling leading to cell development and function. Btk is a cytosolic tyrosine kinase and its recruitment to the plasma membrane is a necessary step for its function. In the BCR pathway, class 1A PI3K is though to play a major role in Btk recruitment by generating the D3 phosphoinositide as a docking site for the pleckstrin homology (PH) domain of this effecter kinase. This widely accepted hypothesis has been tested in platelets fr

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Shlyapin, S. I. "Mobility of social processes as a resource of society. Correlation of the concepts of pathology, deviation, mutations." Vestnik Universiteta, no. 7 (August 31, 2024): 219–28. http://dx.doi.org/10.26425/1816-4277-2024-7-219-228.

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The article considers the correlation of the concepts of pathology, deviation and mutation based on the theoretical content from the list of references. Deviation is not always purely negative. We prove this through H. Becker’s work “Outsiders”. Social groups create rules, and deviants are not able to obey the accepted norms and become outsiders. We have called this approach sociocul-tural. The approach described in V.N. Zheleznyak’s monograph through the prism of rationalistic philosophy is more difficult to understand and present the phenomenon of deviation. The main idea that is revealed in

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Geges, József, and Lívia Vasas. "Quae Mutatio Rerum – On the Centenary of Hungarian Journal of Dermatology and Venereology." Bőrgyógyászati és Venerológiai Szemle 99, no. 1 (2023): 6–15. http://dx.doi.org/10.7188/bvsz.2023.99.1.1.

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Published in 1923, the Borgyogyaszati, Urologiai és Venerologiai Szemle (BUVSZ) – now known without the word „Urologiai” (BVSZ) – is a significant milestone in the history of the Hungarian medical journals. In the context of the 100th anniversary of the journal, the authors examine the historicity of the formal transformation of the BVSZ and make only the most necessary reference to changes in its content. In doing so, they depart from the usual analytical approach of similar writings, but carefully show how the Review has adapted to the ceaseless challenges of scholarly communication. They sh

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Brugières, Laurence, Audrey Remenieras, Gaëlle Pierron, et al. "High Frequency of Germline SUFU Mutations in Children With Desmoplastic/Nodular Medulloblastoma Younger Than 3 Years of Age." Journal of Clinical Oncology 30, no. 17 (2012): 2087–93. http://dx.doi.org/10.1200/jco.2011.38.7258.

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Purpose Germline mutations of the SUFU gene have been shown to be associated with genetic predisposition to medulloblastoma, mainly in families with multiple cases of medulloblastoma and/or in patients with symptoms similar to those of Gorlin syndrome. To evaluate the contribution of these mutations to the genesis of sporadic medulloblastomas, we screened a series of unselected patients with medulloblastoma for germline SUFU mutations. Patients and Methods A complete mutational analysis of the SUFU gene was performed on genomic DNA in all 131 consecutive patients treated for medulloblastoma in

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Vreken, Peter, René W. L. M. Niessen, Marjolein Peters, Marianne C. L. Schaap, Johanna G. M. Zuithoff-Rijntjes, and Augueste Sturk. "A Point Mutation in an Invariant Splice Acceptor Site Results in a Decreased mRNA Level in a Patient with Severe Coagulation Factor XIII Subunit A Deficiency." Thrombosis and Haemostasis 74, no. 02 (1995): 584–89. http://dx.doi.org/10.1055/s-0038-1649779.

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SummaryAmplification and sequencing of exons I-XV of the gene encoding subunit A of coagulation factor XIII (FXIII) in a patient with severe subunit A deficiency revealed a single G → A base substitution at the last position of intron E, mutating the invariant AG dinucleotide splice acceptor site to AA. Northern blot analysis of FXIII subunit A mRNA levels in peripheral mononuclear leukocytes showed that this mutation leads to an undetectable FXIII subunit A mRNA level, suggesting that the mutant transcript is either highly unstable or only spliced at low efficiency. Despite this low mRNA leve

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ROHLF, THIMO, and CHRISTOPHER R. WINKLER. "EMERGENT NETWORK STRUCTURE, EVOLVABLE ROBUSTNESS, AND NONLINEAR EFFECTS OF POINT MUTATIONS IN AN ARTIFICIAL GENOME MODEL." Advances in Complex Systems 12, no. 03 (2009): 293–310. http://dx.doi.org/10.1142/s0219525909002210.

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Genetic regulation is a key component in development, but a clear understanding of the structure and dynamics of genetic networks is not yet at hand. In this paper we investigate these properties within an artificial genome model originally introduced by Reil [Proc. 5th European Conf. Artificial Life (Springer, 1999), pp. 457–466]. We analyze statistical properties of randomly generated genomes both on the sequence and network level, and show that this model correctly predicts the frequency of genes in genomes as found in experimental data. Using an evolutionary algorithm based on stabilizing

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Gutierrez, Mariana, Teodor Parella, Jesús Joglar, Jordi Bujons, and Pere Clapés. "Structure-guided redesign of d-fructose-6-phosphate aldolase from E. coli: remarkable activity and selectivity towards acceptor substrates by two-point mutation." Chemical Communications 47, no. 20 (2011): 5762. http://dx.doi.org/10.1039/c1cc11069a.

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Kayabolen, Alisan, Ebru Yilmaz, and Tugba Bagci-Onder. "IDH Mutations in Glioma: Double-Edged Sword in Clinical Applications?" Biomedicines 9, no. 7 (2021): 799. http://dx.doi.org/10.3390/biomedicines9070799.

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Discovery of point mutations in the genes encoding isocitrate dehydrogenases (IDH) in gliomas about a decade ago has challenged our view of the role of metabolism in tumor progression and provided a new stratification strategy for malignant gliomas. IDH enzymes catalyze the conversion of isocitrate to alpha-ketoglutarate (α-KG), an intermediate in the citric acid cycle. Specific mutations in the genes encoding IDHs cause neomorphic enzymatic activity that produces D-2-hydroxyglutarate (2-HG) and result in the inhibition of α-KG-dependent enzymes such as histone and DNA demethylases. Thus, chro

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Aroian, R. V., A. D. Levy, M. Koga, Y. Ohshima, J. M. Kramer, and P. W. Sternberg. "Splicing in Caenorhabditis elegans does not require an AG at the 3' splice acceptor site." Molecular and Cellular Biology 13, no. 1 (1993): 626–37. http://dx.doi.org/10.1128/mcb.13.1.626-637.1993.

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The dinucleotide AG, found at the 3' end of virtually all eukaryotic pre-mRNA introns, is thought to be essential for splicing. Reduction-of-function mutations in two Caenorhabditis elegans genes, the receptor tyrosine kinase gene let-23 and the collagen gene dpy-10, both alter the AG at the end of a short (ca. 50-nucleotide) intron to AA. The in vivo effects of these mutations were studied by sequencing polymerase chain reaction-amplified reverse-transcribed RNA isolated from the two mutants. As expected, we find transcripts that splice to a cryptic AG, skip an exon, and retain an unspliced i

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Aroian, R. V., A. D. Levy, M. Koga, Y. Ohshima, J. M. Kramer, and P. W. Sternberg. "Splicing in Caenorhabditis elegans does not require an AG at the 3' splice acceptor site." Molecular and Cellular Biology 13, no. 1 (1993): 626–37. http://dx.doi.org/10.1128/mcb.13.1.626.

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The dinucleotide AG, found at the 3' end of virtually all eukaryotic pre-mRNA introns, is thought to be essential for splicing. Reduction-of-function mutations in two Caenorhabditis elegans genes, the receptor tyrosine kinase gene let-23 and the collagen gene dpy-10, both alter the AG at the end of a short (ca. 50-nucleotide) intron to AA. The in vivo effects of these mutations were studied by sequencing polymerase chain reaction-amplified reverse-transcribed RNA isolated from the two mutants. As expected, we find transcripts that splice to a cryptic AG, skip an exon, and retain an unspliced i

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Okubo, M., Asako Horinishi, Norimasa Nakamura, et al. "A novel point mutation in an acceptor splice site of intron 32 (IVS32 A -12 →G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb." Human Genetics 102, no. 1 (1998): 1–5. http://dx.doi.org/10.1007/s004390050646.

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Pomponio, R. J., T. R. Reynolds, H. Mandel, et al. "Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3' Splice Acceptor Site Within an Exon of the Human Biotinidase Gene." Human Molecular Genetics 6, no. 5 (1997): 739–45. http://dx.doi.org/10.1093/hmg/6.5.739.

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Takizawa, Yasuko, Yoshiki Hiraoka, Hayato Takahashi, et al. "Compound Heterozygosity for a Point Mutation and a Deletion Located at Splice Acceptor Sites in the LAMB3 Gene Leads to Generalized Atrophic Benign Epidermolysis Bullosa." Journal of Investigative Dermatology 115, no. 2 (2000): 312–16. http://dx.doi.org/10.1046/j.1523-1747.2000.00051.x.

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