Relevant bibliographies by topics / SITE MUTATION

Contents

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

Academic literature on the topic 'SITE MUTATION'

Author: Grafiati
Published: 11 September 2023
Last updated: 31 July 2025

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Journal articles on the topic "SITE MUTATION"

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Ozdemir, D., P. S. Hart, O. H. Ryu, et al. "MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta." Journal of Dental Research 84, no. 11 (2005): 1031–35. http://dx.doi.org/10.1177/154405910508401112.

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The Amelogenesis Imperfecta (AI) are a group of clinically and genetically heterogeneous disorders that affect enamel formation. To date, mutations in 4 genes have been reported in various types of AI. Mutations in the genes encoding the 2 enamel proteases, matrix metalloproteinase 20 ( MMP20) and kallikrein 4 ( KLK4), have each been reported in a single family segregating autosomal-recessive hypomaturation AI. To determine the frequency of mutations in these genes, we analyzed 15 Turkish probands with autosomal-recessive hypomaturation AI for MMP20 and KLK4 gene mutations. No KLK4 mutations w
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Bianchi, F., S. Rosati, L. Belvederesi, et al. "MSH2 splice site mutation and endometrial cancer." International Journal of Gynecologic Cancer 16, no. 3 (2006): 1419–23. http://dx.doi.org/10.1136/ijgc-00009577-200605000-00072.

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Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited syndrome of cancer susceptibility caused by germ line mutations of genes participating in mismatch repair (MMR). Carriers of MMR gene mutations have an increased risk of colorectal cancers and cancer of other organs. Tumors of the endometrium represent the most frequent extracolonic malignancies in HNPCC. It has been suggested that women harboring MMR gene mutations have a higher risk of endometrial cancer than of colon cancer. Here, we describe an HNPCC patient with early-onset endometrial cancer and a strong familial history o
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Agosto, Melina A., Jason K. Middleton, Elaine C. Freimont, John Yin та Max L. Nibert. "Thermolabilizing Pseudoreversions in Reovirus Outer-Capsid Protein μ1 Rescue the Entry Defect Conferred by a Thermostabilizing Mutation". Journal of Virology 81, № 14 (2007): 7400–7409. http://dx.doi.org/10.1128/jvi.02720-06.

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ABSTRACT Heat-resistant mutants selected from infectious subvirion particles of mammalian reoviruses have determinative mutations in the major outer-capsid protein μ1. Here we report the isolation and characterization of intragenic pseudoreversions of one such thermostabilizing mutation. From a plaque that had survived heat selection, a number of viruses with one shared mutation but different second-site mutations were isolated. The effect of the shared mutation alone or in combination with second-site mutations was examined using recoating genetics. The shared mutation, D371A, was found to co
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Yamazaki, Tomio, Akira Katsumi, Yoshihiro Okamoto, et al. "Two Distinct Novel Splice Site Mutations in a Compound Heterozygous Patient with Protein S Deficiency." Thrombosis and Haemostasis 77, no. 01 (1997): 014–20. http://dx.doi.org/10.1055/s-0038-1655729.

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SummaryGenetic analysis revealed two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency. The paternal mutation was a G-to-T transition at position -1 of the acceptor splice site of intron N (Mutation I), and the maternal mutation was a G-to-C transversion at position -1 of the donor splice site of intron C (Mutation II). Both splice site mutations decreased the mutated mRNA accumulation to the same extent, approximately 40% of the normal mRNA. However, the mutations were associated with different phenotypical expressions: the paternal mutant prote
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Chattopadhyay, Maitreyi, Vera A. Stupina, Feng Gao, et al. "Requirement for Host RNA-Silencing Components and the Virus-Silencing Suppressor when Second-Site Mutations Compensate for Structural Defects in the 3′ Untranslated Region." Journal of Virology 89, no. 22 (2015): 11603–18. http://dx.doi.org/10.1128/jvi.01566-15.

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ABSTRACTTurnip crinkle virus (TCV) contains a structured 3′ region with hairpins and pseudoknots that form a complex network of noncanonical RNA:RNA interactions supporting higher-order structure critical for translation and replication. We investigated several second-site mutations in the p38 coat protein open reading frame (ORF) that arose in response to a mutation in the asymmetric loop of a critical 3′ untranslated region (UTR) hairpin that disrupts local higher-order structure. All tested second-site mutations improved accumulation of TCV in conjunction with a partial reversion of the pri
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Wang, Zhihong, Yanhong Lin, Liping Qiu, et al. "Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype." Clinical Chemistry and Laboratory Medicine (CCLM) 54, no. 9 (2016): 1435–40. http://dx.doi.org/10.1515/cclm-2015-1042.

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AbstractBackground:Duchenne muscular dystrophy (DMD) is typically caused by disrupting the reading frame of the dystrophin gene: approximately 70%–80% of mutational events are represented by deletions or duplications of one or more exons in the dystrophin gene, and the remaining cases by subtle mutations, including point mutations, small indels, small inversions, and complex small rearrangements. The dystrophin gene is the largest known gene with one of the highest known rates of new mutations.Methods:Deletions and duplications were detected in theDMDgene of the proband by using multiple ligat
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Cook, Jonathan, Elizabeth de Wolf, and Nicholas Dale. "Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro." Royal Society Open Science 6, no. 8 (2019): 191128. http://dx.doi.org/10.1098/rsos.191128.

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The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product. These mutations, although not creating a cryptic splice site, appeared to activate a pre-existing cryptic splice site. The alternative splicing of the mutant Cx26 mRNA could be prevented by mutating the predicted 3′, 5′ splice sites and the branch point. The presence of a C-terminal fluorescent protein tag (mCherry or Clover) was necessary for this alternati
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Joseph, Ranjit, Paul Little, David N. Hayes, and Michael Sangmin Lee. "Characterization of the number and site of APC mutations in sporadic colorectal cancer." Journal of Clinical Oncology 35, no. 4_suppl (2017): 630. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.630.

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630 Background: Truncating mutations in the adenomatous polyposis coli ( APC) gene are well-described events in the carcinogenesis of colorectal carcinomas (CRC) and may impact one or both APC alleles. These aberrations often fall within the mutation cluster region (MCR) of the APC gene to preserve a “just right” number of beta-catenin binding sites in the resulting mutant APC protein. Further clinical and genotypic characterization of CRCs based on number and site of mutations in APC determined using modern next generation sequencing methods is needed. Methods: Next generation sequencing of 7
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Bauer, C. E., J. F. Gardner, R. I. Gumport, and R. A. Weisberg. "The effect of attachment site mutations on strand exchange in bacteriophage lambda site-specific recombination." Genetics 122, no. 4 (1989): 727–36. http://dx.doi.org/10.1093/genetics/122.4.727.

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Abstract Recombination of phage lambda attachment sites occurs by sequential exchange of the DNA strands at two specific locations. The first exchange produces a Holliday structure, and the second resolves it to recombinant products. Heterology for base substitution mutations in the region between the two strand exchange points (the overlap region) reduces recombination; some mutations inhibit the accumulation of Holliday structures, others inhibit their resolution to recombinant products. To see if heterology also alters the location of the strand exchange points, we determined the segregatio
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Ito, Kiyoaki, Yanli Qin, Michael Guarnieri, et al. "Impairment of Hepatitis B Virus Virion Secretion by Single-Amino-Acid Substitutions in the Small Envelope Protein and Rescue by a Novel Glycosylation Site." Journal of Virology 84, no. 24 (2010): 12850–61. http://dx.doi.org/10.1128/jvi.01499-10.

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ABSTRACT Mutations in the S region of the hepatitis B virus (HBV) envelope gene are associated with immune escape, occult infection, and resistance to therapy. We previously identified naturally occurring mutations in the S gene that alter HBV virion secretion. Here we used transcomplementation assay to confirm that the I110M, G119E, and R169P mutations in the S domain of viral envelope proteins impair virion secretion and that an M133T mutation rescues virion secretion of the I110M and G119E mutants. The G119E mutation impaired detection of secreted hepatitis B surface antigen (HBsAg), sugges
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Dissertations / Theses on the topic "SITE MUTATION"

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Patel, Premal Harshad. "Evolution of DNA polymerase active site /." Thesis, Connect to this title online; UW restricted, 2001. http://hdl.handle.net/1773/6361.

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Marcello, Matthew R. "Analysis of recombinant human prostasin carrying a serine active site mutation." Honors in the Major Thesis, University of Central Florida, 2003. http://digital.library.ucf.edu/cdm/ref/collection/ETH/id/325.

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This item is only available in print in the UCF Libraries. If this is your Honors Thesis, you can help us make it available online for use by researchers around the world by following the instructions on the distribution consent form at http://library.ucf.edu/Systems/DigitalInitiatives/DigitalCollections/InternetDistributionConsentAgreementForm.pdf You may also contact the project coordinator, Kerri Bottorff, at kerri.bottorff@ucf.edu for more information.<br>Bachelors<br>Health and Public Affairs<br>Molecular Biology and Microbiology
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Wenwieser, Sandra Verena Corinna Tina. "Subunit interactions in regulation and catalysis of site-specific recombination." Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343974.

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Chitpinityol, Supannee. "Heterologous expression and site-directed mutagenesis of the enzyme chymosin." Thesis, University of Reading, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.320101.

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Sheikh, Qaiser Iftikhar. "Exploring the structure and function of bacterial cytosine specific DNA methyltransferases using site-directed mutagenesis." Thesis, University of Sheffield, 2001. http://etheses.whiterose.ac.uk/10258/.

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Point mutations were engineered into the sequence of the multispecific DNA methyltransferase (Mtase) M. SPRI in motif IX, in order to mimic the corresponding motif IX of mono-specific Mtase. A similar approach was adopted to modify the sequence of the monospecific enzyme M. HhaI in motifs IX and X based on the available structure and as a consequence the enzyme regained methylation potential. It was thought that these changes might be sufficient to enable functional exchange of the target recognition domains (TRDs) between a mono- and a multispecific enzyme. However, insertion of various segme
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Dinda, Stephen B. "Predicting RNA Mutation Using 3D Structure." Bowling Green State University / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1321280932.

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Tinteroff, Gil Vanessa. "De Paracas à Nasca sur la côte du sud du Pérou : archéologie d'une mutation culturelle." Paris 4, 2008. http://www.theses.fr/2008PA040039.

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Sur la côte sud du Pérou, à l'issu du déclin de la civilisation Chavín, la culture Paracas laisse peu à peu place à la culture Nasca. Datée entre 200 avant J. -C. Et 100 de notre ère, cette période, communément appelée "transition Paracas – Nasca" sur la côte sud, est celle de nombreux changements culturels. À travers l’étude de divers contextes archéologiques de cette région, et en particulier de Necrópolis dans la péninsule de Paracas et de Cahuachi dans la vallée de Nasca, cette thèse se propose de définir les causes, les mécanismes socioculturels et les acteurs culturels des transformation
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Lefebvre, Anne. "Le site CpG dans l'ADN : impact possible des variations conformationnelles sur le taux de mutations." Châtenay-Malabry, Ecole centrale de Paris, 1996. http://www.theses.fr/1996ECAP0485.

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Nous avons analysé la structure du dinucléotide CpG en fonction de la séquence d'ADN qui le contient, par résonance magnétique nucléaire et modélisation moléculaire, pour déterminer en quoi la structure de CpG influe sur les modifications structurales induites par la méthylation de la cytosine de ce dinucléotide, et mettre en relation la structure de CpG et le taux de mutations observé sur ces sites. La permutation de ses plus proches voisins modifie fortement la conformation de CpG. Au sein de la tétrade ACGT, comme dans d(GTACGTAC)2, il adopte un grand twist, associé à une phase élevée de la
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Sada, Yoshinao. "Genetic studies on the target-site resistance to sulfonylurea herbicides in Schoenoplectus juncoides." Kyoto University, 2014. http://hdl.handle.net/2433/193553.

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Liu, Fengling. "Kinetic and Crystallographic Studies of Drug-Resistant Mutants of HIV-1 Protease: Insights into the Drug Resistance Mechanisms." Digital Archive @ GSU, 2007. http://digitalarchive.gsu.edu/biology_diss/19.

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HIV-1 protease (PR) inhibitors (PIs) are important anti-HIV drugs for the treatment of AIDS and have shown great success in reducing mortality and prolonging the life of HIV-infected individuals. However, the rapid development of drug resistance is one of the major factors causing the reduced effectiveness of PIs. Consequently, various drug resistant mutants of HIV-1 PR have been extensively studied to gain insight into the mechanisms of drug resistance. In this study, the crystal structures, dimer stabilities, and kinetics data have been analyzed for wild type PR and over 10 resistant mutants
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Books on the topic "SITE MUTATION"

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Institut d'aménagement et d'urbanisme de la région d'Île de France., ed. La mutation du site de Billancourt: Contexte et enjeu d'un projet. I.A.U.R.I.F., 1990.

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J, McPherson M., ed. Directed mutagenesis: A practical approach. IRL Press, 1991.

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McPherson, M.J., (Ed.), ed. Directed Mutagenesis: A Practical Approach. I.R.L. P., 1991.

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R, Ballain, ed. Sites urbains en mutation: Territoires et trajectoires. L'Harmattan, 1990.

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Meslé, Jean-Yves. SMN, Société métallurgique de Normandie: Mémoires et mutations d'un site industriel. OREP, 2013.

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editor, Curnier Sonia author, and Fisher Xavier author, eds. En mutation: Conceptions urbaines : projets contemporains de reconversion de sites industriels en Suisse. Infolio, 2015.

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Khan, Amir R. Mutational and structural analysis of second-site transmembrane region mutants of phage M13 coat protein. National Library of Canada, 1993.

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Association des directeurs immobiliers (France). Reconvertir les friches industrielles et urbaines: De la transformation réussie des sites à la mutation des territoires. Moniteur, 2015.

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McPherson, M. J. Directed Mutagenesis: A Practical Approach (Practical Approach Series). Oxford University Press, USA, 1991.

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McPherson, M. J. Directed Mutagenesis: A Practical Approach (The Practical Approach Series). Oxford University Press, USA, 1991.

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Book chapters on the topic "SITE MUTATION"

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Gurushidze, Maia, Stefan Hiekel, Ingrid Otto, Götz Hensel, and Jochen Kumlehn. "Site-Directed Mutagenesis in Barley by Expression of TALE Nuclease in Embryogenic Pollen." In Biotechnologies for Plant Mutation Breeding. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-45021-6_7.

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Polgár, L., and M. L. Bender. "Simulated Mutation at the Active Site of Biologically Active Proteins." In Advances in Enzymology - and Related Areas of Molecular Biology. John Wiley & Sons, Inc., 2006. http://dx.doi.org/10.1002/9780470122785.ch8.

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Remya, S., and K. Praveen. "Protecting the Augmented Browser Extension from Mutation Cross-Site Scripting." In Advances in Intelligent Systems and Computing. Springer India, 2015. http://dx.doi.org/10.1007/978-81-322-2517-1_22.

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Cohen, Y. Haimi, R. Bargal, M. Zeigler, T. Markus-Eidlitz, V. Zuri, and A. Zeharia. "Hyperargininemia: A Family with a Novel Mutation in an Unexpected Site." In JIMD Reports. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/8904_2011_101.

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Maguire, D. J., A. J. Sun, and W. Rosner. "A Possible New mtrRNA Mutation Site for Aminoglycoside-Induced Deafness Syndrome." In Advances in Experimental Medicine and Biology. Springer US, 1999. http://dx.doi.org/10.1007/978-1-4615-4717-4_50.

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Temme, Manfred. "Somatic Mutation in the Polynesian Rat (Rattus Exulans) at Enewetak Nuclear Test Site." In Current Mammalogy. Springer US, 1987. http://dx.doi.org/10.1007/978-1-4757-9909-5_12.

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Kagamiyama, H., S. Kuramitsu, Y. Inoue, S. Tanase, and Y. Morino. "Mutation of Lysine 258 to Arginine in the Active Site of Aspartate Aminotransferase." In Biochemistry of Vitamin B6. Birkhäuser Basel, 1987. http://dx.doi.org/10.1007/978-3-0348-9308-4_13.

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Donovan, Kathleen A., Sujay K. Singh, and Chella S. David. "Mutation in the Aβ Gene of B6.C-H-2bm12. Antibody Binding Site VS. T Cell Recognition Sites." In H-2 Antigens. Springer US, 1987. http://dx.doi.org/10.1007/978-1-4757-0764-9_31.

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Rignall, Tauna R., John O. Baker, Suzanne L. McCarter, et al. "Effect of Single Active-Site Cleft Mutation on Product Specificity in a Thermostable Bacterial Cellulase." In Biotechnology for Fuels and Chemicals. Humana Press, 2002. http://dx.doi.org/10.1007/978-1-4612-0119-9_32.

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Jansson, Christer, and Pirkko Mäenpää. "Mutation: Site-Directed Mutagenesis for Structure-Function Analyses of the Photosystem II Reaction Center Protein D1." In Progress in Botany. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-642-60458-4_14.

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Conference papers on the topic "SITE MUTATION"

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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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Shahriar, Hossain, and Mohammad Zulkernine. "MUTEC: Mutation-based testing of Cross Site Scripting." In 2009 ICSE Workshop on Software Engineering for Secure Systems (SESS). IEEE, 2009. http://dx.doi.org/10.1109/iwsess.2009.5068458.

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Bernaedi, F., V. Bertagnolo, S. Bartolai, L. Rossi, F. Panicucci, and F. Conconi. "A POINT MUTATION AND A GENE DELETION OF FVIII GENE IN SEVERE HAEMOPHILIA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644047.

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The presence of Factor VIII (FVIII) gene lesions has been investigated in 100 haemophilia A patients using cDNA probes for the 3'part of FVIII gene (exons 14-26 ).In two related severe patients without inhibitor a deletion removesthe exon 26; the gene lesion has been confirmed with several restriction enzymes and has been shown by densitometry of the autoradiographic pattern in a woman of the same family. The complete deletionof the exon 26 has been described by Gitschier et al. in a patient with inhibitor. Thus the comparison of the end points of the two deletions could help to define the mec
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Souza, Karine Terra de, Glauber Monteiro Dias, and Jorge Hernandez Fernandez. "In silico study of the impact of the PRKAG2-H401Q mutation on AMPK affinity for AMP and ATP." In Simpósio Brasileiro de Bioinformática. Sociedade Brasileira de Computação, 2024. https://doi.org/10.5753/bsb.2024.245548.

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Mutations in the PRKAG2 gene, which encodes the γ2 subunit of AMP-activated protein kinase (AMPK), are linked to a rare cardiomyopathy involving glycogen accumulation, left ventricular hypertrophy, and sudden death. This study investigates a novel His401Gln missense mutation in the PRKAG2 gene and its effects on AMPK γ2 subunit dynamics. Through molecular simulations and free energy analyses, we compared AMP and ATP binding affinities between the wild-type and mutant γ2 subunits. Structural modeling and simulations revealed a significant change in ATP binding at site 3 in the mutant AMPK, sugg
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Bertagnolo, V., S. Volinia, C. Legnani, G. Rodorigo, V. De De Rosa, and F. Bernardi. "TWO FVIII GENE LESIONS DETECTED IN SEVERE AND MODERATE HAEMOPHILIA A." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644048.

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DNAs from 15 haemophilia A patients from different families have been hybridized to FVIII cDNA probes for the exons 14-26.In a severely affected patient (FVIII:C 2 %) the TaqI site of exon 24 is absent originating an abnormal band of 4.2 Kb. A C toT transition in the CG dinucleotide of the TaqI site (TCGA) is the probable gene mutation. Since the transition in the sense strand should originate an additional Hind III site, which is not detected in our patient, we infer that the mutation occurred in the antisensestrand causing an aminoacid change (CGA →CAA, Arg → Gin). This isin accordance with
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Abdurrasyid, Benhard Sitohang, Yudistira Dwi Wardhana Asnar, and Gusti Ayu Putri Saptawati. "Securing Cross-Site Request Forgery Vulnerabilities in Web Applications Using Mutation Analysis." In 2024 2nd International Conference on Software Engineering and Information Technology (ICoSEIT). IEEE, 2024. http://dx.doi.org/10.1109/icoseit60086.2024.10497499.

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Youssoufiän, H., A. Patel, D. Phillips, H. H. Kazazian, and S. E. Antonarakis. "RECURRENT MUTATIONS AND AN UNUSUAL DELETION IN HEMOPHILIA A." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644014.

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We have identified 15 mutations of the factor VIII (F8) gene from a panel of 107 patients with hemophilia A and have characterized these gene defects byrestriction analysis, oligonucleotide hybridization, cloning and DNA sequencing. Recurrent point mutations that involve CG to TG transitions were identified in exon 18, exon 22, and exon 24; a single CG to TG transition was identified in exon 23; and a CG to CA transition was identified in exon 24. In addition, a Taq I site alteration in intron 4 was identified in a patient with mild hemophilia, which arose dg. S23&amp;in a grandpaternal germ c
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Geddes, V. A., G. V. Louie, G. D. Brayer, and R. T. A. MacGillivray. "MOLECULAR BASIS OF HEMOPHILIA B: IDENTIFICATION OF THE DEFECT IN FACTOR IX VANCOUVER." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643872.

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Factor IX Vancouver (fIX-V) is the cause of a moderate form of hemophilia B. An individual presenting with this disorder had 2.6% of normal procoagulant activity in his plasma but had 62% of the normal factor IX antigen level. Specific antibodies showed that fIX-V contains epitopes for both the heavy and light chains of factor IXa. To identify the defect involved, DNA was isolated from the lymphocytes of the male hemophiliac. Southern blot analysis using a full-length factor IX cDNA as a hybridization probe showed no gross differences between the fIX-V gene and the normal factor IX gene. The D
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Chini, Vasiliki, Yasser Al Sarraj, Michael Trese, Hatem El Shanti, and Marios Kambouris. "A Novel Homozygous Lrp5 Splice-site Deletion Mutation Causes Syndromic Autosomal Recessive Familial Exudative Vitreoretinopathy." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2014. http://dx.doi.org/10.5339/qfarc.2014.hbpp0727.

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Matthews, R. J., I. R. Peake, and A. L. Bloom. "POINT-MUTATION OF FACTOR VIII CODING SEQUENCES IN HAEMOPHILIA A." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644013.

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In order to study the molecular basis of haemophilia A, DNA from 26 haemophilia A patients (8 severe with inhibitors, 13 severe noninhibitors and 5 mild/moderate) was screened by the Southern blotting method with FVIII cDNA probe A (a i.7kb Kpnl cDNA fragment that spans exons 1 to 12) probe B (a 4.7kb EcoRI cDNA fragment that contains exons 14 to 25 and part of exon 26) probe C (a 1.8kb EcoRI cDNA fragment that contains the remainder of exon 26 and probe D (an Apal/EcoRI 783bp cDNA fragment that includes all of exons 22 to 25 and parts of exons 21 and 26). All cDNA probes were kindly provided
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Reports on the topic "SITE MUTATION"

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โขวิฑูรกิจ, วีรพันธุ์, วาณี เปล่งพาณิชย์, ปาล์ม ชาติยิ่งเจริญ та LeGoff, Wilfried. โครงการวิจัยการศึกษารหัสพันธุกรรมในคนไทยที่มีไขมันในเลือดชนิดเอชดีแอลสูงมาก โดยวิธีถอดรหัสและวิเคราะห์การเปลี่ยนแปลงหน้าที่. จุฬาลงกรณ์มหาวิทยาลัย, 2011. https://doi.org/10.58837/chula.res.2011.33.

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วัตถุประสงค์: ปัจจัยทางพันธุกรรมที่เกี่ยวข้องกับภาวะเอชดีแอลในเลือดสูงยังไม่เป็นที่เข้าใจแน่ชัด คณะผู้วิจัยทำการถอดรหัสพันธุกรรมยีน 3 ยีน คือ CETP, LIPC และ LIPG ซึ่งสร้างโปรตีน คอเลสเตอริล เอสเทอร์ ทรานสเฟอร์ โปรตีน, เฮบพาติค ไลเปส และ เอนทีเลียล ไลเปส ตามลำดับ ในคนไทยที่มีระดับเอชดีแอลในเลือดสูงมากเทียบกับประชากรกลุ่มควบคุมวิธีดำเนินการวิจัย คณะผู้วิจัยทำการถอดรหัสยีน CETP, LIPC และ LIPG ในส่วนของ exon และ exon-intron junctions เพื่อค้นหาการเปลี่ยนแปลงพันธุกรรมในคนไทย 64 คนที่มีระดับเอชดีแอล ≥ 2.59 มิลลิโมล/ลิตร (100 มิลลิกรัม/เดซิเมตร) และเปรียบเทียบกับผลในประชากรกลุ่มควบคุม 113 คนผลการวิจั
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Rimphanitchayakit, Vichien, and Raevadee Siritunyanont. Mutagenesis of cyclodextrin glucanotransferase gene that affects themostability of the enzyme. Chulalongkorn University, 2006. https://doi.org/10.58837/chula.res.2006.34.

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Cyclodextrins are cyclic oligosaccharides of 6, 7 andf 8 glucose units, called [alpha]-, [beta]- and [gamma]- cyclodextrins (CDs)s, respectively. CDs are the products of enzymatic conversation of starch and related substrates by cyclodextrin glucanotransferases (CGTases), and are useful carrier molecules for applications in industries. The CGTase consists of 5 domains, A, B, C, D, and E. Domains A/B are the central catalytic domains while others perform accessory functions. The commercial production of CDs required that the starch be liquefied at high temperature before the CGTase reaction at
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Ohad, Itzhak, and Himadri Pakrasi. Role of Cytochrome B559 in Photoinhibition. United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7613031.bard.

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The aim of this research project was to obtain information on the role of the cytochrome b559 in the function of Photosystem-II (PSII) with special emphasis on the light induced photo inactivation of PSII and turnover of the photochemical reaction center II protein subunit RCII-D1. The major goals of this project were: 1) Isolation and sequencing of the Chlamydomonas chloroplast psbE and psbF genes encoding the cytochrome b559 a and b subunits respectively; 2) Generation of site directed mutants and testing the effect of such mutation on the function of PSII under various light conditions; 3)
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Burns, Malcom, and Gavin Nixon. Literature review on analytical methods for the detection of precision bred products. Food Standards Agency, 2023. http://dx.doi.org/10.46756/sci.fsa.ney927.

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The Genetic Technology (Precision Breeding) Act (England) aims to develop a science-based process for the regulation and authorisation of precision bred organisms (PBOs). PBOs are created by genetic technologies but exhibit changes which could have occurred through traditional processes. This current review, commissioned by the Food Standards Agency (FSA), aims to clarify existing terminologies, explore viable methods for the detection, identification, and quantification of products of precision breeding techniques, address and identify potential solutions to the analytical challenges presente
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Olszewski, Neil, and David Weiss. Role of Serine/Threonine O-GlcNAc Modifications in Signaling Networks. United States Department of Agriculture, 2010. http://dx.doi.org/10.32747/2010.7696544.bard.

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Significant evidence suggests that serine/threonine-O-linked N-acetyl glucosamine0-(GlcNAc) modifications play a central role in the regulation of plant signaling networks. Forexample, mutations in SPINDLY,) SPY (an O-GlcNAc transferase,) OGT (promote gibberellin GA) (signal transduction and inhibit cytokinin responses. In addition, mutating both Arabidopsis OGTsSEC (and SPY) causes embryo lethality. The long-term goal of this research is to elucidate the mechanism by which Arabidopsis OGTs regulate signaling networks. This project investigated the mechanisms of O-GlcNAc regulation of cytokini
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Shai, Yechiel, Arthur Aronson, Aviah Zilberstein, and Baruch Sneh. Study of the Basis for Toxicity and Specificity of Bacillus thuringiensis d-Endotoxins. United States Department of Agriculture, 1996. http://dx.doi.org/10.32747/1996.7573995.bard.

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The report contains three parts which summarizes the three years achievements of the three participating research groups; The Weizmann group, Tel-Aviv group and Purdue group. The firs part describes the achievements obtained by Shai's group toward the elucidation of the mechanism of membrane insertion and the structural organization of the pores formed by the Cry3A and Cry1Ac B. thuringiensis d-endotoxins. For that purpose Shai's group synthesized, fluorescently labeled and structurally and functionally characterized peptides corresponding to the seven helices that compose the pore-forming dom
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Paunesku, T., M. A. Gemmell, R. Crkvenjakov, and G. E. Woloschak. Identification of a polymorphic site as a mutational site in exon VI of the mouse p53 gene. Office of Scientific and Technical Information (OSTI), 1993. http://dx.doi.org/10.2172/10186830.

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Eshed, Y., and Z. B. Lippman. Fine tuning the shoot and inflorescence architectures for improved tomato yield. United States-Israel Binational Agricultural Research and Development Fund, 2022. http://dx.doi.org/10.32747/2022.8134148.bard.

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In this project, we are determining the contribution of different types of variations, in gene function and in gene regulation, to altered shoot architecture first, and to field performance in the next stage. We are using tomato as a target, but also as a model for many other crops. Our focus is on two different components of yield associated traits - shoot architecture and organization of the inflorescence. Our focus was on two types of regulators; 1) genes involved in florigen - antiflogen balance and the way they impact the shoot, and 2) genes involved in inflorescence branching and it this
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Wisniewski, Michael, Samir Droby, John Norelli, Dov Prusky, and Vera Hershkovitz. Genetic and transcriptomic analysis of postharvest decay resistance in Malus sieversii and the identification of pathogenicity effectors in Penicillium expansum. United States Department of Agriculture, 2012. http://dx.doi.org/10.32747/2012.7597928.bard.

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Use of Lqh2 mutants (produced at TAU) and rNav1.2a mutants (produced at the US side) for identifying receptor site-3: Based on the fact that binding of scorpion alpha-toxins is voltage-dependent, which suggests toxin binding at the mobile voltage-sensing region, we analyzed which of the toxin bioactive domains (Core-domain or NC-domain) interacts with the DIV Gating-module of rNav1.2a. This analysis was based on the assumption that the dissociation of toxin mutants upon depolarization would vary from that of the unmodified toxin should the substitutions affect a site of interaction with the ch
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Paunesku, T., M. A. Gemmell, R. Crkvenjakov, and G. E. Woloschak. Identification of a mutational site in exon VI of the mouse p53 gene. Office of Scientific and Technical Information (OSTI), 1993. http://dx.doi.org/10.2172/10186834.

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