Bibliografías temáticas / Nonsense alteration

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Literatura académica sobre el tema "Nonsense alteration"

Autor: Grafiati

Publicado: 30 de noviembre de 2024

Última modificación: 31 de julio de 2025

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Artículos de revistas sobre el tema "Nonsense alteration"

Muto, T., S. Wakui, H. Takahashi, et al. "p53 Gene Mutations Occurring in Spontaneous Benign and Malignant Mammary Tumors of the Dog." Veterinary Pathology 37, no. 3 (2000): 248–53. http://dx.doi.org/10.1354/vp.37-3-248.

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Sixty-three cases of benign and malignant canine mammary tumors were analyzed to define the alteration of exons 5–8 for the p53 tumor suppressor gene using polymerase chain reaction direct sequence analysis with paraffin-embedded tissues. Four missense mutations were found in 38 benign mammary tumors (11%), and five missense (one tumor had two missense mutations) and one nonsense mutations were found in 25 mammary carcinomas (20%). These data suggest that the p53 gene alterations might be initiated at an early stage of canine mammary carcinogenesis and p53 mutations might be associated with ma

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Sun, Woo, Jina Lee, Bong Kim, Jong Kim, and Joonhong Park. "Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression." Diagnostics 11, no. 3 (2021): 416. http://dx.doi.org/10.3390/diagnostics11030416.

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This study aimed to clarify the genetic difference between Korean triple-negative breast cancer (TNBC) and other breast cancer (BC) subtypes. TNBC was defined as the absence of hormonal receptors and human epidermal growth factor receptor 2 (HER2) amplification. DNA panel of the Ion Torrent Oncomine Comprehensive Assay (OCA) v3 was performed to identify somatic alteration in 48 specimens. In a total of 102 alterations (37 nonsense, 35 missense, 8 frameshift and 22 amplifications), 30 nucleotide alterations (24 nonsense, 1 missense, and 5 frameshift) were newly identified. The eight most common

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Huang, Minqi, Ellen B. Jaeger, Sydney Caputo, et al. "Longitudinal ctDNA alterations in germline positive CRPC patients." Journal of Clinical Oncology 40, no. 6_suppl (2022): 275. http://dx.doi.org/10.1200/jco.2022.40.6_suppl.275.

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275 Background: Circulating tumor-derived DNA (ctDNA) is an accessible method for characterizing somatic alterations. We report longitudinal ctDNA screenings of mCRPC patients (pts) who have had germline testing. Methods: Patients with both germline testing and ctDNA assessment were included. Germline testing was performed with a multi-gene cancer panel from Invitae (50-83 genes) and somatic alterations in ctDNA were identified by testing with Guardant 360 (70-83 genes). ctDNA alterations were characterized as deletions, frameshift, missense, nonsense, and other mutations. A total of 177 patie

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Zhang, Longfeng, Weijin Xiao, Fangjun Wu, et al. "SMARCA4-mutated lung adenocarcinoma, a distinctive non-small cell lung cancer with worse prognosis." Journal of Clinical Oncology 39, no. 15_suppl (2021): e20548-e20548. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.e20548.

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e20548 Background: SMARCA4 gene is one of the catalytic subunits of the SWI/SNF chromosomal remodeling complex, which can regulate important cellular processes and functions and is closely associated to tumors. The clinical features, therapeutic efficacy, prognosis and pathological features of lung adenocarcinoma with this genetic variation are still unknown and controversial. Methods: The study recruited 274 patients (pts) with lung adenocarcinoma whose samples were sent to perform parallel hybridization-based next-generation sequencing. Two categories of SMARCA4 mutations were divided into T

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Gagny, Bénédicte, and Philippe Silar. "Identification of the Genes Encoding the Cytosolic Translation Release Factors from Podospora anserina and Analysis of Their Role During the Life Cycle." Genetics 149, no. 4 (1998): 1763–75. http://dx.doi.org/10.1093/genetics/149.4.1763.

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Abstract In an attempt to decipher their role in the life history and senescence process of the filamentous fungus Podospora anserina, we have cloned the su1 and su2 genes, previously identified as implicated in cytosolic translation fidelity. We show that these genes are the equivalents of the SUP35 and SUP45 genes of Saccharomyces cerevisiae, which encode the cytosolic translation termination factors eRF3 and eRF1, respectively. Mutations in these genes that suppress nonsense mutations may lead to drastic mycelium morphology changes and sexual impairment but have little effect on life span.

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Louie, Raymond J., Michael J. Friez, Cindy Skinner, et al. "Clark‐Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12." American Journal of Medical Genetics Part A 182, no. 3 (2019): 595–96. http://dx.doi.org/10.1002/ajmg.a.61443.

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Ohara, O., Y. Gahara, T. Miyake, H. Teraoka, and T. Kitamura. "Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene." Journal of Cell Biology 121, no. 2 (1993): 387–95. http://dx.doi.org/10.1083/jcb.121.2.387.

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The existence of a neurofilament-deficient mutant of Japanese quail was recently documented (Yamasaki, H., C. Itakura, and M. Mizutani. 1991. Acta Neuropathol. 82:427-434), but the genetic events leading to the neurofilament deficiency have yet to be determined. Our molecular biological analyses revealed that the expression of neurofilament-L (NF-L) gene was specifically repressed in neurons of this mutant. To search for mutation(s) responsible for the shutdown of this gene expression, we cloned and sequenced the NF-L genes in the wild-type and mutant quails. It is eventually found that the NF

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Qin, Wei, Huina Lu, Jianfei Fu, and Aibin Liang. "Alteration of SOCS Is a Possible Pathogenetic Mechanism of Myeloproliferative Neoplasm." Blood 116, no. 21 (2010): 4121. http://dx.doi.org/10.1182/blood.v116.21.4121.4121.

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Abstract Abstract 4121 The activation of the JAK/STAT pathway caused by the JAK2 gene mutations is an important pathogenetic mechanism of myeloproliferative neoplasm(MPN). Recently, many evidences suggest that there are factors besides the mutations of JAK2 gene participate in the pathogenesis of MPN. Suppressors of cytokine signaling (SOCS) proteins are potent inhibitors of JAK/STAT pathway, therefore we hypothesized that the down regulation of SOCS protein system may be a possible pathogenetic mechanism of MPN through the activation of the JAK/STAT pathway. In order to testify our hypothesis

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Vail, E., M. Gayhart, and M. Azimpouran. "Malignant Melanoma with Atypical Phenotype and RAC1 Mutation." American Journal of Clinical Pathology 160, Supplement_1 (2023): S95. http://dx.doi.org/10.1093/ajcp/aqad150.210.

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Abstract Introduction/Objective Melanoma, a highly invasive form of skin cancer associated with high mortality rates, poses significant challenges in diagnosis and treatment. RAC1, a member of the RHO family of GTPases, plays a crucial role as a molecular switch in cellular processes. A specific mutation in RAC1, caused by C &gt; T transition induced by UV radiation, leads to P29S alteration, activating the SRF/MRTF pathway and triggering a phenotypic switch towards a mesenchymal phenotype. Methods/Case Report We present a case of a 74-year-old male patient who presented with a six-week hi

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Zhang, Xingming, Junjie Zhao, Xiaoxue Yin, et al. "Multi-omics analyses and molecular subtypes to provide potential therapeutic implications in fumarate hydratase-deficient renal cell carcinoma." Journal of Clinical Oncology 42, no. 16_suppl (2024): 4522. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.4522.

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4522 Background: Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare yet highly lethal kidney cancer. To deepen our understanding of FH-deficient RCC, we conducted a comprehensive integrated genomic study. Methods: A total of 126 treatment naïve FH-deficient RCC tissue samples were extracted from our multi-center database. Whole-exome, RNA-seq, and DNA-methylation sequencing were performed. All cases were confirmed with both FH/2SC immunohistochemical staining and FH alterations analysis. Results: Through whole-exome sequencing, we found FH alteration patterns were a

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Más fuentes

Tesis sobre el tema "Nonsense alteration"

Loret, Camille. "Maladie de Charcot-Marie-Tooth : création de modèles cellulaires neuronaux via les technologies hiPSCs et CRISPR-Cas9 et test de nouvelles stratégies thérapeutiques." Electronic Thesis or Diss., Limoges, 2024. http://www.theses.fr/2024LIMO0067.

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La maladie de Charcot-Marie-Tooth (CMT) est la neuropathie périphérique héréditaire la plus fréquente chez l’humain. Elle touche les motoneurones (MN) et les cellules de Schwann (CS). La majorité des gènes impliqués, dont SH3TC2 et GDAP1, peuvent être affectés par des mutations non-sens. En 2021, peu de modèles cellulaires humains existaient, et aucun traitement curatif n'était disponible pour les patients. Les travaux de cette thèse se centre sur SH3TC2, responsable de la forme démyélinisante autosomique récessive la plus fréquente des CMT, nommée CMT4C ou AR-CMTde-SH3TC2 et sur GDAP1 notamme

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Meulemans, Laetitia. "Caractérisation fonctionnelle de variations splicéogéniques à l'origine d'anomalies d'épissage en phase dans des gènes de prédisposition aux cancers : implications en génétique médicale Skipping nonsense to maintain function : the paradigm of BRCA2 Exon 12 Functional characterization of MSH2 variants resulting into in-frame splicing alterations." Thesis, Normandie, 2021. http://www.theses.fr/2021NORMR008.

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Aujourd’hui, le défi majeur en génétique médicale est l’interprétation clinique des variations détectées dans le génome des patients. Dans un contexte de maladie monogénique, l’identification de la variation pathogène permet d’optimiser la prise en charge des patients et de leurs apparentés. Les variations non-sens ainsi que celles localisées au niveau des sites canoniques d’épissage (IVS±1/2) sont généralement considérées causales. Toutefois, il est possible que certaines d’entre elles induisent des anomalies d’épissage en phase permettant potentiellement la production d’une protéine fonction

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Libros sobre el tema "Nonsense alteration"

Lewallen, Chelsey Byrd. Clothing Alterations and Repairs. Bloomsbury Publishing Plc, 2024. http://dx.doi.org/10.5040/9781350163584.

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A detailed, step-by-step guide to successfully altering and repairing ready-made apparel that will help you achieve the perfect fit and extend the life of your clothing. Whether you are interested in tailoring your wardrobe, starting a business, or learning a skill that will save you money and the planet, you'll find what you need through illustrated step-by-step projects and no-nonsense videos. You'll learn to make alterations to your ready-made clothing, including a variety of hemming techniques and taking in/ letting out seams, and repair methods to fix zippers, tears, and holes. There are

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Capítulos de libros sobre el tema "Nonsense alteration"

Luijt, Rob B. Van Der, Riccardo Fodde,, and Johan T. Den Dunnen. "The protein truncation test (PTT)." In Mutation Detection. Oxford University PressOxford, 1998. http://dx.doi.org/10.1093/oso/9780199636570.003.0012.

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Abstract The detection and characterization of point mutations in genes responsible for inherited disorders has become one of the most common practices in human molecular genetics. Several protocols are nowadays available: single strand conformation polymorphism (SSCP) (1), RNase protection (2), hydroxylamine and osmium tetroxide (HOT) chemical cleavage (3), and denaturing gradient gel electrophoresis (DGGE) (4, 5). These techniques are generally aimed at the identification of single base substitutions, insertions, or deletions in relatively small DNA fragments (50-500 bp). However, when deali

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Marinho, Sandra Aparecida, and Heglayne Pereira Vital da Silva. "Basal cell nevoid carcinoma syndrome: A review." In A LOOK AT DEVELOPMENT. Seven Editora, 2023. http://dx.doi.org/10.56238/alookdevelopv1-086.

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Basal cell nevoid carcinoma syndrome (BCNCS) is a rare autosomal dominant genetic syndrome that is predisposed to cancer. It is characterized by the presence of multiple basal cell carcinomas (BCCs) on the skin, as well as numerous maxillary odontogenic keratocyst (QTOs), palmoplantar punctate depressions (pits), skeletal abnormalities, and other developmental defects. The genetic basis of this syndrome lies in causal mutations in the PTCH1 gene, a tumor suppressor gene located on chromosome 9. The present study aimed to review recent literature concerning SCNBC, addressing aspects such as cli

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Actas de conferencias sobre el tema "Nonsense alteration"

Antonarakis, E. "The Molecular Genetics of Hemophilia A Stylianos." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643980.

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Hemophilia A is a common X linked hereditary disorder of blood coagulation due to deficiency of factor 8. The gene for factor 8 has been cloned and characterized (Nature 312:326-342, 1984). It is divided into 26 exons and 25 introns and spans 186 kb of DNA. The CGNA is 9 kb and codes for 2351 amino acids. The first 19 amino acids comprise the secretory leader peptide and the mature excreted polypeptide consists of 2332 amino acids. The nucleotide sequence of the exons and the exon-intron junctions is known and the complete amino acid sequence has been deducedSeveral laboratories have used clon

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