Relevant bibliographies by topics / Truncating mutation

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Truncating mutation'

Author: Grafiati
Published: 2 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Truncating mutation"

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Kataoka, Hiroshi, Hinata Fukuoka, Shiho Makabe, et al. "Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations." Journal of Clinical Medicine 9, no. 1 (2020): 146. http://dx.doi.org/10.3390/jcm9010146.

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Autosomal dominant polycystic kidney disease (ADPKD) patients with PKD1 mutations, particularly those with truncating mutations, show poor prognosis. However, the differences in disease progression with different mutation types are unclear. Here, a comparative study was conducted on the renal prognosis of patients with ADPKD who were categorized based on genotype (PKD1 versus PKD2 mutation), mutation type (truncating mutation: nonsense, frameshift, splicing mutation, and large deletion; non-truncating mutation: substitution and in-frame deletion), and mutation position. A total of 123 patients
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Uyanik, G., N. Elcioglu, J. Penzien, et al. "Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome." Neurology 66, no. 7 (2006): 1044–48. http://dx.doi.org/10.1212/01.wnl.0000204181.31175.8b.

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Background: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome.Methods: The authors assessed clinically and genetically three isolated cases from Germany and Turkey with symptoms consistent with Andermann syndrome.Results: The authors detected four novel mutations within the KCC3 gene in their patients: two d
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Kang, Minyong, Yong Ho Shin, Jae Young Joung, and Seong Il Seo. "Genomic analysis of mitochondrial mutations in chromophobe renal cell carcinoma by using low-depth whole genome sequencing." Journal of Clinical Oncology 37, no. 7_suppl (2019): 553. http://dx.doi.org/10.1200/jco.2019.37.7_suppl.553.

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553 Background: Mitochondria have a circular genome that is independent of the nuclear genome of the nucleus. Mutations of mitochondrial DNA rarely occur during tumorigenesis. Chromophobe renal cell carcinoma (chRCCC) is a type of kidney tumor characterized by a morphologic abnormality of mitochondria. However, there is still little research on the existence of mitochondrial mutation in chRCC and how it plays a role in tumorigenesis. Here, we investigated the mutation patterns of mitochondria genome in chRCC using low-depth sequencing technique. Methods: We evaluated 17 patients with chRCC who
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Kenvin, Sebastian, Ruben Torregrosa-Muñumer, Marco Reidelbach, et al. "Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism." Human Molecular Genetics 31, no. 6 (2021): 958–74. http://dx.doi.org/10.1093/hmg/ddab299.

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Abstract Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent causes of neurological mitochondrial diseases with a range of phenotypes from Leigh syndrome and NARP to ataxias and neuropathies. Here we investigated the functional consequences of an unusual heteroplasmic truncating mutation m.9154C>T in MT-ATP6, which caused peripheral neuropathy, ataxia and IgA nephropathy. ATP synthase not only generates cellular ATP, but its dimerization is required for mitochondrial cristae formation. Accordingly, the MT-ATP6 truncating mutation impaired the assembly o
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Lanktree, Matthew B., Elsa Guiard, Pedram Akbari, et al. "Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD." Clinical Journal of the American Society of Nephrology 16, no. 3 (2021): 374–83. http://dx.doi.org/10.2215/cjn.11100720.

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Background and objectivesProgression of autosomal dominant polycystic kidney disease (ADPKD) is highly variable. On average, protein-truncating PKD1 mutations are associated with the most severe kidney disease among all mutation classes. Here, we report that patients with protein-truncating PKD1 mutations may also have mild kidney disease, a finding not previously well recognized.Design, setting, participants, & measurementsFrom the extended Toronto Genetic Epidemiologic Study of Polycystic Kidney Disease, 487 patients had PKD1 and PKD2 sequencing and typical ADPKD imaging patterns by magn
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Gąsior-Perczak, Danuta, Artur Kowalik, Krzysztof Gruszczyński, et al. "Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma." Cancers 13, no. 3 (2021): 470. http://dx.doi.org/10.3390/cancers13030470.

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The CHEK2 gene is involved in the repair of damaged DNA. CHEK2 germline mutations impair this repair mechanism, causing genomic instability and increasing the risk of various cancers, including papillary thyroid carcinoma (PTC). Here, we asked whether CHEK2 germline mutations predict a worse clinical course for PTC. The study included 1547 unselected PTC patients (1358 women and 189 men) treated at a single center. The relationship between mutation status and clinicopathological characteristics, treatment responses, and disease outcome was assessed. CHEK2 mutations were found in 240 (15.5%) of
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Gamallat, Yaser, Mitra Afsharpad, Soufiane El Hallani, et al. "Large, Nested Variant of Urothelial Carcinoma Is Enriched with Activating Mutations in Fibroblast Growth Factor Receptor-3 among Other Targetable Mutations." Cancers 15, no. 12 (2023): 3167. http://dx.doi.org/10.3390/cancers15123167.

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The large, nested variant of urothelial carcinoma (LNVUC) is characterized by bland histomorphology mimicking that of benign von Brunn nests. In the current study, we aimed to investigate the Fibroblast Growth Factor Receptor-3 (FGFR-3) activation and missense mutation in 38 cases, including 6 cases diagnosed with LNVUC and 32 with metastatic invasive urothelial carcinoma (UC). Initially, six formalin-fixed paraffin-embedded (FFPE) tissue samples of the LNVUC were subjected to whole-exome sequencing (WES), and then we performed targeted sequencing on 32 cases of metastatic invasive UC of vario
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Sin, Seung Ho, Jung Hwan Yoon, Sang Woo Kim, Won Sang Park, and Hiun Suk Chae. "A Case of Sporadic Multiple Colonic Polyps in a Young Woman." Current Oncology 30, no. 2 (2023): 1293–99. http://dx.doi.org/10.3390/curroncol30020100.

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Sporadic colorectal cancer arises from an adenoma. As mutations in the adenomatous polyposis coli (APC) tumor suppressor gene have been frequently detected in colorectal adenomas, the APC gene is considered a gatekeeper in colorectal carcinogenesis. Here, we report a case of sporadic multiple colonic adenomas that were accompanied by an APC-truncating mutation. A 25-year-old Korean woman presented with dozens of incidentally found colonic polyps. There was no family history of colorectal polyposis or colon cancer in her first or second-degree relatives. All the polyps were removed endoscopical
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Fennell, Lochlan J., Alexandra Kane, Cheng Liu, et al. "APC Mutation Marks an Aggressive Subtype of BRAF Mutant Colorectal Cancers." Cancers 12, no. 5 (2020): 1171. http://dx.doi.org/10.3390/cancers12051171.

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Background: WNT activation is a hallmark of colorectal cancer. BRAF mutation is present in 15% of colorectal cancers, and the role of mutations in WNT signaling regulators in this context is unclear. Here, we evaluate the mutational landscape of WNT signaling regulators in BRAF mutant cancers. Methods: we performed exome-sequencing on 24 BRAF mutant colorectal cancers and analyzed these data in combination with 175 publicly available BRAF mutant colorectal cancer exomes. We assessed the somatic mutational landscape of WNT signaling regulators, and performed hotspot and driver mutation analyses
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Zhang, Lingxia, Shugang Wang, Ruoque Mao, et al. "Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations." Genetics Research 2022 (July 19, 2022): 1–10. http://dx.doi.org/10.1155/2022/1473260.

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Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods. Children with hemizygous pathogenic or likely pathogenic variants in OCRL were compiled from published and unpublished consecutive cases from China. Furthermore, a Chi-square test was employed to analyze the correlation of the location and types of mutations on the phenotype of children with Lowe syndrome or Dent-2 disease. Results. Among the total 83 patients, 70.8% (34/48) c
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Dissertations / Theses on the topic "Truncating mutation"

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Tan, Jamie We-Yin. "The investigation of RANKL TNF-like core domain by truncation mutation." University of Western Australia. School of Surgery and Pathology, 2003. http://theses.library.uwa.edu.au/adt-WU2004.0032.

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Osteoclasts are multinucleated cells found exclusively in bone and are derived from the haematopoietic cells of monocytes/macrophage lineage. The cell-to-cell interaction between osteoblastic/stromal cells and osteoclast precursor cells is necessary for osteoclastogenesis. Receptor Activator of NF-κB ligand (RANKL) was identified as a membrane-bound TNF ligand family member that is the ‘master’ cytokine expressed on osteoblastic/stromal cells, which stimulate osteoclastogenesis through cell-to-cell contact with osteoclast precursors. RANKL is considered to be a factor that is necessary and suf
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Nixon, John. "Assessment of the use of reverse transcription - polymerase chain reaction in the investigation of Duchenne muscular dystrophy." Thesis, University of Bristol, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.300701.

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Tervasmäki, A. (Anna). "Hereditary predisposition to breast cancer:evaluating the role of rare copy number variant, protein-truncating and missense candidate alleles." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526220826.

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Abstract Breast cancer is the most common cancer among women, and inherited predisposition is one of the major recognized causes of increased breast cancer risk. Only about half of the hereditary cases are explained by mutations in the known susceptibility genes, including the DNA damage response genes BRCA1, BRCA2 and PALB2, leaving the majority still uncovered. Identification of the missing genetic predisposing factors is important for more effective diagnostics and counseling of the risk families, and also for better understanding of the etiology and cellular characteristics of breast cance
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Wang, Leyi. "STUDY TOWARD THE DEVELOPMENT OF ADVANCED INFLUENZA VACCINES." The Ohio State University, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=osu1249332969.

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Gurgui, Cristian [Verfasser]. "Functional consequences of ε [epsilon] AChR subunit truncating mutations linked to congenital myasthenic syndrome / vorgelegt von Cristian Gurgui". 2005. http://d-nb.info/975072412/34.

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Byrne, Timothy John. "A minimally invasive assay detects BRCA1 and BRCA2 protein truncations indicative of the presence of a germline mutation." 2000. https://scholarworks.umass.edu/dissertations/AAI9988767.

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Family members with a heritable mutation in the BRCA1 or BRCA2 gene have up to an 85% life-long risk of contracting one or more of the cancers associated with a genetic alteration to these genes. The inheritance risks of a BRCA alteration to first and second-degree relatives of affected individuals are 50% and 25%, respectively. Currently, members from high-risk families can be tested for the presence of BRCA1 or BRCA2 mutations by gene sequencing of blood cell DNA. This test is expensive and generally is not reimbursed by insurance carriers. Over 85% of BRCA1 and BRCA2 mutations are reported
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Mettal, Heike [Verfasser]. "Der nichtradioaktive Protein-Truncation-Test : eine Methode zum Screenen auf translationsterminierende Mutationen in putativen Tumorsuppressorgenen ; Untersuchungen des GRAF-Gens bei Kindern mit akuter myeloischer Leukämie / vorgelegt von Heike Mettal." 2005. http://d-nb.info/978039726/34.

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Berryer, Martin H. "Bases moléculaires et cellulaires d’un trouble neurodéveloppemental causé par l’haploinsuffisance de SYNGAP1." Thèse, 2015. http://hdl.handle.net/1866/13907.

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Books on the topic "Truncating mutation"

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Bergmann, Carsten, and Klaus Zerres. Autosomal recessive polycystic kidney disease. Edited by Neil Turner. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0313.

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Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features. ARPKD is typically caused by mutations in the PKHD1 gene that encodes a 4074-amino acid type 1 single-pass transmembrane protein called fibrocystin or polyductin. Fibrocystin/polyductin is among other cystoproteins expressed in primary cilia, basal bodies, and centrosomes, but its
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Book chapters on the topic "Truncating mutation"

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Hauss, Oliver, and Oliver Müller. "The Protein Truncation Test in Mutation Detection and Molecular Diagnosis." In In Vitro Transcription and Translation Protocols. Humana Press, 2007. http://dx.doi.org/10.1007/978-1-59745-388-2_8.

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Den Dunnen, Johan T., Pauline A. M. Roest, Rob B. Van Der Luijt, and Frans B. L. Hogervorst. "The Protein Truncation Test (PTT) for Rapid Detection of Translation-Terminating Mutations." In Technologies for Detection of DNA Damage and Mutations. Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-0301-3_24.

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"Truncating Mutation." In Encyclopedia of Cancer. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16483-5_6698.

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BI, WEIMIN, and JAMES R. LUPSKI. "SALL4 and the Okihiro/Duane Radial-Ray and Acro–Renal–Ocular Syndromes." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0122.

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Abstract Okihiro/Duane-radial-ray syndrome (DRRS) is a rare autosomal dominant condition characterized by radial-ray defects and Duane anomaly (a form of strabismus). Other abnormalities recognized in this condition are anal, renal, cardiac, ear and foot malformations, hearing loss, postnatal growth retardation, and facial asymmetry. The disease is caused by a mutation in SAL-like 4 ( SALL4) a human gene related to the developmental regulator sal of Drosophila melanogaster. SALL4 mutations may also cause acro–renal–ocular syndrome (AROS), which differs from DRRS by the presence of structural e
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Lopes, Luis Rocha. "Dilated cardiomyopathy: genetics." In ESC CardioMed. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198784906.003.0355.

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The genetic background of dilated cardiomyopathy is characterized by heterogeneity. Truncating mutations in titin (TTN), responsible for around 20% of cases, have recently been recognized as the most prevalent genetic cause of dilated cardiomyopathy. Other important causal genes are LMNA (coding for the nuclear envelope protein, lamin A/C) and sarcomere protein genes, such as beta-myosin heavy chain (MYH7) and troponin T (TNNT2). Other loci, including genes that code for cytoskeleton, Z-disc, and membrane-associated proteins, are each responsible for a lower percentage of cases. Current consen
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Nürnberg, Peter, and Sigrid Tinschert. "ANKH and Craniometaphyseal Dysplasia." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0175.

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Abstract Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular bones. Affected individuals display highly variable features ranging from barely discernible anomalies to severe nasal obstruction, compression and functional impairment of cranial nerves, and increased intracranial pressure. An autosomal- dominant form of the disorder (CMDD; OMIM 123000) was linked to chromosome 5p15.2-p14.1 within a region harboring the human ortholog of the mouse progressive ankylosis (Ank)
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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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Kohlhase, JÜRgen. "SALL1 and the Townes–Brocks Syndrome." In Inborn Errors Of Development. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0025.

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Abstract Townes–Brocks syndrome (TBS, MIM 107480) is a rare autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. TBS results from mutations in SALL1, a human gene related to the developmental regulator sal of Drosophila melanogaster. The SALL1 gene product is a zinc 7nger protein thought to act as a transcription factor. It contains four highly conserved C2H2 double zinc 7nger domains, which are evenly distributed. A single C2H2 motif is attached to the second domain, and at the amino terminus, SALL1 contains a C2HC motif. The protein is e
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Gendron Tania F., Rademakers Rosa, and Petrucelli Leonard. "TARDBP Mutation Analysis in TDP-43 Proteinopathies and Deciphering the Toxicity of Mutant TDP-43." In Advances in Alzheimer’s Disease. IOS Press, 2013. https://doi.org/10.3233/978-1-61499-154-0-35.

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The identification of TAR DNA-binding protein 43 (TDP-43) as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions has defined a new class of neurodegenerative conditions: the TDP-43 proteinopathies. This breakthrough was quickly followed by mutation analysis of TARDBP, the gene encoding TDP-43. Herein, we provide a review of our previously published efforts that led to the identification of 3 TARDBP mutations (p.M337V, p.N345K, and p.I383V) in familial ALS patients, two of which were novel. With over 40 TARDBP mutation
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Hamilton, W. D. "Haploid Dynamic Polymorphism In A Host With Matching Parasites: Effects Of Mutation/ Subdivision, Linkage, And Patterns Of Selectiony." In Narrow Roads Of Gene Land. Oxford University PressOxford, 2005. http://dx.doi.org/10.1093/oso/9780198566908.003.0007.

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Abstract A deterministic genetic simulation of the coevolution of a sexual haploid host species with an asexual parasite is described in which parasites gain by matching and hosts by unmatching alleles at three linked and corresponding loci. Realistic parameter states without mutation or population subdivision can generate permanent dynamic polymorphism; however, polymorphism is preserved under wider conditions if mutation and/or migration in a meta- population is present. Other factors favorable to polymorphism include weak selection, ‘zero-sum ’ patterns of fitness interaction, fast breeding
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Conference papers on the topic "Truncating mutation"

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Legchenko, Ekaterina, Bin Liu, James West, Peter Vangheluwe, Paul Upton, and Nicholas Morrell. "Protein truncating mutations in ATP13A3 promote pulmonary arterial hypertension." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.4463.

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Huo, Pan, Chen Qiu, and Wenyin Gong. "Differential Evolution with Mutation Operators Based on Truncation." In 2013 Fifth International Conference on Computational and Information Sciences (ICCIS). IEEE, 2013. http://dx.doi.org/10.1109/iccis.2013.200.

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Legchenko, E., B. Liu, J. West, P. Vangheluwe, P. Upton, and N. Morrell. "Protein truncating mutations in ATP13A3 promote pulmonary arterial hypertension in mice." In ERS Lung Science Conference 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/23120541.lsc-2020.83.

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Haigwood, N., E.-P. Pâques, G. Mullenbach, G. Moore, L. DesJardin, and A. Tabrizi. "IMPROVEMENT OF T-PA PROPERTIES BY MEANS OF SITE DIRECTED MUTAGENESIS." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643841.

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The clinical relevance of tissue-plasminogen-activator (t-PA) as a potent thrombolytic agent has recently been established. It has however been recognized that t-PA does not fulfill all conditions required for an ideal thrombolytic pharmaceutical agent; for example, its physiological stability and its short half life in vivo necessitate the use of very large clinical doses. We have therefore attempted to develop novel mutant t-PA proteins with improved properties by creating mutants by site-directed mutagenesis in M13 bacteriophage. Seventeen mutants were designed, cloned, and expressed in CHO
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van der Plas, Marlon, Ruud H. Brakenhoff, Dirk J. Kuik, et al. "Abstract 338: Truncating TP53 mutations have prognostic significance in head and neck squamous cell carcinoma." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-338.

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Gao, Baifeng, Huijian Li, and Yanxia Li. "Damage Identification Methods for Stiffness Mutation Position of Tower Structure Based on Dynamic Response Information Truncation." In 2008 International Symposium on Computer Science and Computational Technology. IEEE, 2008. http://dx.doi.org/10.1109/iscsct.2008.238.

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Parvathareddy, Sandeep K., Abdul K. Siraj, Rong Bu, et al. "Abstract 3447: APC truncating mutations in Middle Eastern population: Tankyrase inhibitor is an effective strategy to sensitize APC mutant CRC to 5-FU chemotherapy." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-3447.

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Parvathareddy, Sandeep K., Abdul K. Siraj, Rong Bu, et al. "Abstract 3447: APC truncating mutations in Middle Eastern population: Tankyrase inhibitor is an effective strategy to sensitize APC mutant CRC to 5-FU chemotherapy." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-3447.

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Reports on the topic "Truncating mutation"

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Spiers, Donald, Arieh Gertler, Harold Johnson, and James Spain. An In Vitro and In Vivo Investigation of the Diverse Biological Activities of Bovine Placental Lactogen. United States Department of Agriculture, 1993. http://dx.doi.org/10.32747/1993.7568087.bard.

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In order to understand the structure-function relationship of bovine placental lactogen (bPL) and initiate production of material for in vivo testing, 28 different bPL analogues were prepared by either truncation or site-directed mutagenesis. The effect of these mutations was determined by measuring binding capacity, ability to homodimerize extracellular domains (ECDs) of several lactogenic and somatogenic receptors, and by in vitro bioassays. Two analogues were prepared in large amounts for in vivo studies. These studies (a) identified the residues responsible for the somatogenic activity of
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