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Littérature scientifique sur le sujet « Compound mutation »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 31 juillet 2025

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Articles de revues sur le sujet "Compound mutation"

Li, Jin, Zhenyu Yan, Agus Darwanto, et al. "Phasing Analysis Of TKI Resistance Mutations In The BCR-ABL1 Kinase Domain and Neighboring Domains Using Next-Generation Sequencing." Blood 122, no. 21 (2013): 3817. http://dx.doi.org/10.1182/blood.v122.21.3817.3817.

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Abstract Background Many CML patients treated with tyrosine kinase inhibitors (TKIs) eventually develop resistance as a result of ABL1 kinase domain (KD) mutations, and sequential treatment with different TKIs may select for multiple BCR-ABL1 mutations. Whether multiple mutations arise in distinct clones (in trans, or polyclonal mutations) or instead are present within the same BCR-ABL1 molecule (in cis, or compound mutations), has been shown to have important implications with respect to TKI sensitivities (Eide, C.A. et al., Blood 2011). Distinguishing between polyclonal and compound mutation

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Bhatwadekar, Seema S., and Parth Shah. "Mutational Phasing: Clinical Relevance in Tyrosine Kinase Domain Mutations Using Next Generation Sequencing in Chronic Myeloid Leukemia." Blood 132, Supplement 1 (2018): 4269. http://dx.doi.org/10.1182/blood-2018-99-114130.

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Abstract Background: Tyrosine kinase mutation analysis in BCR/ABL1 gene is important for management of patients with chronic myeloid leukemia. Sanger Sequencing has been the mainstay for testing with Next Generation Sequencing (NGS) now becoming the primary technology. In this study we show a comparison between NGS versus Sanger Seqencing based ABL kinase domain mutation analysis with a likely trend of clinical relevance based on a compound versus polyclonal state of mutational distribution which may also need to be considered for patient management and therapy. Methodology: A total of 213 Ima

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Chen, Jiaqi, Hongxing Liu, Fang Wang, et al. "Dynamic Evolution of Ponatinib Resistant BCR-ABL1 T315 and Compound Mutations." Blood 134, Supplement_1 (2019): 3796. http://dx.doi.org/10.1182/blood-2019-129579.

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The third-generation tyrosine kinase inhibitor (TKI) ponatinib exhibits activity against all common BCR-ABL1 kinase domain (KD) single mutations, including the highly resistant gatekeeper T315I. However, the drug response is variable and the clinical resistance mutations may still befall with few reports to date. We performed next-generation sequencing (NGS) detection of BCR-ABL1 KD mutations in sequential samples of three BCR-ABL1-positive leukemia patients who developed clinical resistance to ponatinib, to explore the dynamic evolution of ponatinib mutations. Case 1 was diagnosed as chronic

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Mian, Afsar Ali, Hadiqa Raees, Sujjawal Ahmad, Oliver Ottmann, and El-Nasir M. A. Lalani. "Arsenic Trioxide Suppresses Growth of BCR-ABL1 Positive Cells with "Gatekeeper" or Compound Mutation." Blood 138, Supplement 1 (2021): 4346. http://dx.doi.org/10.1182/blood-2021-154511.

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Abstract Introduction: Chronic myeloid leukemia (CML) and 30% of adult acute lymphatic leukemia (ALL) are characterized by the Philadelphia chromosome (Ph +), having a (9;22) chromosomal translocation. The BCR-ABL1 fusion protein is the hallmark of Ph + leukemia. BCR-ABL1 is characterized by constitutively activated ABL1 tyrosine kinase activity that determines its transformation potential. Tyrosine kinase inhibitors (TKI) have greatly improved the overall prognosis of these diseases. However, unsatisfactory responses in advanced disease stages, resistance and long-term tolerability of BCR-ABL

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Kim, Soo-Hyun, Soo Young Choi, Sung-Eun Lee, et al. "Dynamics and Characteristics of BCR-ABL1 Multiple Mutations in Tyrosine Kinase Inhibitor Resistant CML." Blood 120, no. 21 (2012): 1677. http://dx.doi.org/10.1182/blood.v120.21.1677.1677.

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Abstract Abstract 1677 Background: BCR-ABL1 kinase domain (KD) point mutation causes resistance to tyrosine kinase inhibitors (TKI) in CML patients through impaired binding of TKI to the target site. One of the characteristics of patients with BCR-ABL1 kinase domain point mutations is the fact that some patients have multiple mutations. However there have not been many studies showing that data about clinical relevance or dynamics of multiple mutation during CML treatment. Methods: Since 2002, 414 CML patients were screened for mutation analysis due to sign of resistance to TKI including imati

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Jung, Hyun Ae, Sehhoon Park, Jong-Mu Sun, et al. "Treatment and Outcomes of Metastatic Non-Small-Cell Lung Cancer Harboring Uncommon EGFR Mutations: Are They Different from Those with Common EGFR Mutations?" Biology 9, no. 10 (2020): 326. http://dx.doi.org/10.3390/biology9100326.

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Approximately 10% of the epidermal growth factor receptor (EGFR) mutations in non-small-cell lung cancer (NSCLC) are uncommon EGFR mutations. Although the efficacy of second (2G) or third generation (3G) EGFR tyrosine kinase inhibitors (EGFR-TKIs) in the patients with uncommon EGFR mutation has been proven, further studies are warranted to define the optimal treatment approach for uncommon EGFR mutation-positive NSCLC. This study retrospectively investigated the treatment patterns and outcomes of patients with uncommon EGFR mutation-positive NSCLC from January 2011 to December 2019 at the Sams

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Kim, Dong-Wook, Dongho Kim, Soo-Hyun Kim, et al. "Dynamics and Characteristics of BCR-ABL Multiple Mutations In Tyrosine Kinase Inhibitor Resistant Chronic Myeloid Leukemia." Blood 116, no. 21 (2010): 3443. http://dx.doi.org/10.1182/blood.v116.21.3443.3443.

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Abstract Abstract 3443 BCR-ABL kinase domain (KD) point mutation causes resistance to tyrosine kinase inhibitors (TKI) in CML patients through impaired binding of TKI to the target site. One of the characteristics of patients with BCR-ABL kinase domain point mutations is the fact that some patients have multiple mutations. However there have not been many studies showing that data about clinical relevance or dynamics of multiple mutation during CML treatment. From January 2002 to June 2010 at Seoul St Mary's Hospital, 277 CML patients were screened for mutation analysis due to sign of resistan

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Finkielstain, Gabriela P., Wuyan Chen, Sneha P. Mehta, et al. "Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency." Journal of Clinical Endocrinology & Metabolism 96, no. 1 (2011): E161—E172. http://dx.doi.org/10.1210/jc.2010-0319.

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Background: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. Methods: Targeted CYP21A2 mutation analysis was performed in 213 patients and 232 parents from 182 unrelated families. Complete exons of CYP21A2 were sequenced in patients in whom positive mutations were not identified by targeted mutation analysis. Copy number variation and deletions were determined using Southern blot anal

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Goffinet, Samantha, Veronique Hofman, Christophe Bontoux, et al. "EGFR assessment using next generation sequencing as a reflex testing on surgically resected non-squamous non-small cell lung carcinoma." Journal of Clinical Oncology 41, no. 16_suppl (2023): 8539. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.8539.

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8539 Background: EGFR status assessment is mandatory in early stage (IB-IIIA) non-squamous non-small cell lung carcinoma (NS-NSCLC), but whether NGS methods should be used as reflex testing for this evaluation in daily practice is controversial. However, co-occuring mutations, notably TP53 mutations, may have an impact on tumor behavior and prognosis, and so, on future adjuvant therapeutic strategies. Methods: EGFR mutations were assessed prospectively using NGS (Oncomine Precision Assay genes panel) in 720 NS-NSCLC surgically resected between January 2021 and September 2022 in a single instit

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Liu, Shiguo, Shasha Zhang, Wenjie Li, et al. "Clinical and Genetic Analysis of a Compound Heterozygous Mutation in the Thyroglobulin Gene in a Chinese Twin Family With Congenital Goiter and Hypothyroidism." Twin Research and Human Genetics 15, no. 1 (2012): 126–32. http://dx.doi.org/10.1375/twin.15.1.126.

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Mutations in the thyroglobulin (TG) gene, which has an estimated incidence of approximately 1 in 100,000 new-borns, cause autosomal recessive congenital hypothyroidism. The mutational spectrum of the TG gene and the phenotype–genotype correlations have not yet fully been established. We report a compound heterozygous mutation in the TG gene in a Chinese twin family with congenital goiter and hypothyroidism. We also describe the gene mutation associated with the genotype–phenotype of these children with congenital goiter and hypothyroidism. The whole coding sequence of the TG gene was analyzed

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Thèses sur le sujet "Compound mutation"

Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański, and Angela Hübner. "Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-134512.

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Objective: Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. Methods: Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. Results: We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age of 3 months with skin hyperpigmentation, muscle weakness, mild jaundice and constipation. Hormonal analyses revealed high ACTH and TSH serum concentrations, low serum cortisol concentration along with norm

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Mazur, Artur, Katrin Köhler, Markus Schülke, Mandy Skunde, Mariusz Ostański, and Angela Hübner. "Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation." Karger, 2008. https://tud.qucosa.de/id/qucosa%3A27575.

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MOROSINI, SARA. "Integrated genetic diagnosis of neurofibromatosis type 1 (NF1) and molecular characterization of one case of compound heterozygosity." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/83314.

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Genetic analysis of Neurofibromatosis type 1 (NF1) may facilitate the identification of patients in early phases of the disease. Here, we present an overview of our diagnostic research spanning the last eleven years, with a focus on the description of 225 NF1 mutations, 126 of which are novel, found in a series of 605 patients (513 unrelated) in Italy. Between 2003 and 2013, 443 unrelated patients were profiled by DHPLC analysis of 60 amplicons derived from genomic NF1 DNA and subsequent sequencing of heterozygotic PCR products. In addition, a subset of patients was studied by MLPA to identify

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MOLLA, DAVID. "INVESTIGATION ON PHARMACOLOGICAL AND AGE-INDUCED MODULATIONS OF CARDIAC PEACEMAKING AND ELECTROPHYSIOLOGICAL CHARACTERIZATION OF A COMPOUND MUTATION IN THE CARDIAC SODIUM CHANNEL." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/816791.

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Abstract: During my Ph.D. internship at the ‘PaceLab’, I have been involved in several scientific projects that, although involving different experimental models and with different aims, share the common background of cardiac pacemaker modulation and ion channels activity. In this sec-tion are briefly described the three main research lines in which I took part; a more complete discussion of the data will be presented later in this thesis. Notably, by the time I am writing this proposition, two of these studies have been submitted to scientific journals. - Identification of the bradyc

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GEETA, GEETA. "In vitro and in vivo characterization of resistance to lorlatinib treatment in ALK mutated cancers." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2019. http://hdl.handle.net/10281/241123.

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La terapia personalizzata ha cambiato lo scenario clinico dei tumori ALK-positivi. Tuttavia, la resistenza farmacologica rimane un ostacolo importante cui far fronte. Lorlatinib è un farmaco di terza generazione che inibisce la maggior parte dei mutanti di ALK resistenti agli attuali inibitori. In questo studio sono state utilizzate in vitro e in vivo linee cellulari resistenti a lorlatinib derivanti da linfoma anaplastico a grandi cellule (ALCL), carcinoma polmonare non a piccole cellule (NSCLC) e neuroblastoma, allo scopo di studiare i meccanismi che guidano l'acquisizione della resistenza.

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Polack, Natalie Pia. "Free radical damage to DNA and related compounds." Thesis, University of York, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.261114.

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Petrie, Kirsten. "Novel mutations causing fibrodysplasia ossificans progressiva and potential therapeutic compounds." Thesis, University of Oxford, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.711611.

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Davidson, Bruce Paul, University of Western Sydney, and School of Biological Sciences. "Compound mutations in the mammalian EGFR signalling pathway affect epidermal development, growth and viability." THESIS_XXXX_SBS_Davidson_B.xml, 1997. http://handle.uws.edu.au:8081/1959.7/518.

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The widespread expression of polypeptide growth factors from the earliest stages of embryonic development through to mature issues in the adult organism suggests an involvement in a reiterated developmental process affecting the underlying cellular growth and differentiation of many tissues. The hair follicle has taken on increased significance with the observation that many genetic mutations in these peptide growth factor genes affect its development. The targeted disruption of genes encoding members of the EpidermalGrowth Factor (EGF) and Fibroblast Growth Factor (FGF) families in the mouse

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Davidson, Bruce Paul. "Compound mutations in the mammalian EGFR signalling pathway affect epidermal development, growth and viability /." View thesis, 1997. http://library.uws.edu.au/adt-NUWS/public/adt-NUWS20030826.115144/index.html.

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Harnevik, Lotta. "Molecular genetic studies on cystinuria." Doctoral thesis, Linköping : Univ, 2007. http://www.bibl.liu.se/liupubl/disp/disp2007/med1034s.pdf.

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Livres sur le sujet "Compound mutation"

Widmark, Gun. Fornvästnordiska förleder i omljudsperspektiv: With a summary--First elements of compounds in Old West Scandinavian from the viewpoint of mutation. [Universitetet], 1991.

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Goldberg, Ann. Women and Men: 1760–1960. Edited by Helmut Walser Smith. Oxford University Press, 2012. http://dx.doi.org/10.1093/oxfordhb/9780199237395.013.0004.

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This article is about the power of a norm and its mutation over time: the gender role division of the private nuclear family composed of a male provider and protector, and his dependent children and homemaker wife. Those roles corresponded to rigid distinctions that were made between a male public world of work, money, and politics, on the one hand, and a female private sphere of reproduction and nurturance, on the other. These were prescribed ideals of gender. However, as such, the ideals have had tremendous power, shaping personal identity and the daily lives of men and women, as well as inf

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Sebastio, Gianfranco, Manuel Schiff, and Hélène Ogier de Baulny. Lysinuric Protein Intolerance and Hartnup Disease. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0025.

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Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective cationic amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. Symptoms usually begin after weaning with refusal of feeding, vomiting, and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies, and neurological involvement including hyperammonemic coma will progr

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Klepper, Joerg. Glut1 Deficiency and the Ketogenic Diets. Edited by Eric H. Kossoff. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0005.

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Glucose is the essential fuel for the brain. Transport into brain is exclusively mediated by the facilitative glucose transporter Glut1. Glut1 deficiency results in a “brain energy crisis,” causing global developmental delay, epilepsy, and complex movement disorders including paroxysmal nonepileptic events. Early-onset absence epilepsy, paroxysmal exertion-induced dystonia, and stomatin-deficient cryohydrocytosis have been recognized as variants. Diagnosis is based on phenotype, isolated low CSF glucose, and mutations in the SLC2A1 gene. The condition is treated effectively by classical ketoge

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Suman, Shankar, Shivam Priya, and Akanksha Nigam, eds. Breast Cancer: Current Trends in Molecular Research. BENTHAM SCIENCE PUBLISHERS, 2022. http://dx.doi.org/10.2174/97816810895221120101.

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Breast cancer is one of the most common cancer types worldwide, and is a leading cause of cancer related deaths in women. In this book, medical experts review our current understanding of the molecular biology and characteristics of breast cancer. The topics covered in this book provide comprehensive knowledge of mechanisms underlying breast carcinogenesis, and are intended for a wide audience including scientists, teachers, and students. 11 chapters present information about several topics on breast cancer, including the role of cell growth and proliferation pathways, androgen and cytokine si

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Zhang, Marina, Mark Dodgson, and David Gann. Demystifying China's Innovation Machine. Oxford University Press, 2021. http://dx.doi.org/10.1093/oso/9780198861171.001.0001.

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China’s extraordinary economic development is explained in large part by the way it innovates. This book explains how it innovates, which has important implications not only for China but also for the rest of the world. Contrary to widely held views, China’s innovation machine is not created and controlled by an all-powerful government. Instead, it is a complex, interdependent system composed of hundreds of millions of elements, involving bottom-up innovation driven by innovators and entrepreneurs and highly pragmatic and adaptive top-down policy. Using case studies of leading firms and indust

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Chapitres de livres sur le sujet "Compound mutation"

Belachew, Dina, Traci Kazmerski, Ingrid Libman, et al. "Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures." In JIMD Reports. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/8904_2013_217.

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Bolukbas Ozdemir, Sule, and Havva Nur Peltek Kendirci. "Chemical Carcinogens in Food." In Food Safety. Nobel Tip Kitabevleri, 2024. http://dx.doi.org/10.69860/nobel.9786053358787.23.

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The word carcinogenic is defined as the capacity of a compound to unleash the cancer development process in humans and animals by acting on one of the different organs or tissues under appropriate conditions. However, with the demonstration of different mechanisms involved in carcinogenesis, it is accepted that this definition is not sufficient. From an experimental perspective, a compound is considered carcinogenic when its administration to laboratory animals causes a statistically significant increase in the incidence of one or more types of histological neoplasia compared to animals in a c

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Ido, Masaru, Tatsuya Hayashi, Junji Nishioka, and Koji Suzuki. "Hereditary Thrombophilia Caused by Abnormality of the Anticoagulant Protein C Pathway: Prenatal Diagnosis of Compound Heterozygous Protein C Deficiency by Direct Detection of the Mutation Sites." In Pulmonary Embolism. Springer Japan, 1999. http://dx.doi.org/10.1007/978-4-431-66893-0_2.

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Schröder, J., S. Rost, R. Schwaab, H. H. Brackmann, C. R. Müller, and J. Oldenburg. "Haemophilia A in a Female Due to Compound Heterozygosity of a Maternally Inherited Point Mutation and a Paternally De Novo Large Deletion Within the Factor VIII Gene." In 29. Hämophilie-Symposion. Springer Berlin Heidelberg, 2000. http://dx.doi.org/10.1007/978-3-642-59633-9_47.

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Baraik, Binit, Tanupa Kumari, and Shalini Lal. "Role of Induced Mutation and Stresses in the Production of Bioactive Compounds in Plants." In Food Bioactive Ingredients. Springer Nature Switzerland, 2023. http://dx.doi.org/10.1007/978-3-031-35221-8_8.

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Maher, Veronica M., M. Chia-Miao Mah, Jia-Ling Yang, Nitai P. Bhattacharyya, and J. Justin McCormick. "Mutations and Homologous Recombination Induced by N-Substituted Aryl Compounds in Mammalian Cells." In Nitroarenes. Springer US, 1990. http://dx.doi.org/10.1007/978-1-4615-3800-4_13.

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Morita, Masashi, Shun Matsumoto, Airi Sato, et al. "Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy." In JIMD Reports. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_118.

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Jacobsen, Jessie C., Whitney Whitford, Brendan Swan, et al. "Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair." In JIMD Reports. Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_73.

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Varfolomeev, Sergey, Bella Grigorenko, Sofya Lushchekina, et al. "Study and modeling of mechanisms of cholinesterasis reactions in order to improve their catalytic properties in the neutralization reactions of organophosphorus compounds." In ORGANOPHOSPHORUS NEUROTOXINS. Publishing Center RIOR, 2020. http://dx.doi.org/10.29039/23_140-180.

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“Biocleaners” or “bioscavengers” are biological objects (enzymes, catalytic antibodies) that are capable of binding and/or hydrolyzing organophosphorus compounds (OPC). Their use seems to be the most effective alternative to traditional antidotes to neutralize or detoxify OPC. The introduction of bioscavengers allows neutralizing toxicant molecules in the bloodstream before they reach their biological targets, thereby providing protection against poisoning. Bioscavengers of the first-generation neutralized OPC molecules by stoichiometrically binding to them. The safety and efficacy of human bu

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Varfolomeev, Sergey, Bella Grigorenko, Sofya Lushchekina, et al. "Study and modeling of mechanisms of cholinesterasis reactions in order to improve their catalytic properties in the neutralization reactions of organophosphorous compounds." In Organophosphorous Neurotoxins. Publishing Center RIOR, 2020. http://dx.doi.org/10.29039/chapter_5e4132b603bfc4.70818543.

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Actes de conférences sur le sujet "Compound mutation"

Li, Fachao, Tingyu Zhang, and Chenxia Jin. "A Kind of Genetic Algorithm Based on Compound Mutation Strategy and Performance Study." In 2009 5th International Conference on Wireless Communications, Networking and Mobile Computing (WiCOM). IEEE, 2009. http://dx.doi.org/10.1109/wicom.2009.5300865.

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Adam, Kristine, Cornelia Köhler, Charlotte Thiels, and Thomas Lücke. "Tyrosine Hydroxylase Deficiency due to a Compound-heterozygote Mutation with One Kwon Mutation and One Previously not Described Variant on the TH-Gen." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698229.

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Zhang, Xin. "Notice of Retraction: Research on Improving Keratinase Vitality of Bacillus Subtilis Based on Compound Mutation." In 2011 5th International Conference on Bioinformatics and Biomedical Engineering. IEEE, 2011. http://dx.doi.org/10.1109/icbbe.2011.5780287.

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Abusrair, Ali, Gabriel Amorelli, and Justyna Sarna. "Identification of novel compound heterozygous mutation in Niemann-Pick disease type C gene (P14-11.006)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000204241.

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Mammadova, D. "Cortical Blindness and Epileptic Encephalopathy Due to a Previously Unknown Compound Heterozygous DIAPH1 Gene Mutation." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739614.

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Sinha, Ian, Chris Ritchieson, David Heaf, and David Lacy. "A Novel Compound Heterozygote Mutation Leading To Surfactant Metabolism Dysfunction Presenting As Childhood Interstitial Lung Disease." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a6735.

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Wang, Lili, Rutendo Gambe, Jean Fan, et al. "Abstract 669: Compound heterozygous Sf3b1-K700E mutation and Atm deletion in B cells leads to CLL in mice." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-669.

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Nardin, Joshua, and Rebecca Traub. "Description of a Rare Compound Heterozygous Transthyretin Mutation Val30Met/Val122Ile Conferring Early Onset Hereditary Amyloidosis with Severe Features (P14-8.009)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000203812.

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Farias, Igor Braga, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, et al. "Clinical and genetic profile of Brazilian patients with dysferlinopathies – A retrospective study." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.054.

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Introduction: Dysferlinopathies are a group of conditions that are caused by mutations in the dysferlin gene. Objectives: To characterize the clinical phenotypes and genotypic spectrum of dysferlinopathies patients and to estimate the progression of functional and motor decline. Design and setting: Retrospective analysis of the medical records of patients followed up at our institution between 1995 and 2020. Methods: Patients were selected based on the following inclusion criteria:(i) Identification of a mutation defined as pathogenic in homozygosis or compound heterozygosis in the Dysf gene;o

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Ba Sharahil, N., M. J. Rock, P. M. Farrell, et al. "Identification of Compound Heterozygous Mutation in HFE Gene in a Child with Cystic Fibrosis: A Case Report with Data on HFE Genetic Variants." In American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a3375.

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Rapports d'organisations sur le sujet "Compound mutation"

Ori, Naomi, and Mark Estelle. Role of GOBLET and Auxin in Controlling Organ Development and Patterning. United States Department of Agriculture, 2012. http://dx.doi.org/10.32747/2012.7697122.bard.

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The size and shape of plant leaves are extremely diverse within and among species, and are also sensitive to growth conditions. Compound leaves, such as those of tomato, maintain morphogenetic activity during early stages of their development, enabling them to elaborate lateral appendages such as leaflets. The aim of the research project was to understand the interaction between the plant hormone auxin, the putative auxin response inhibitor ENTIRE (E, SlIAA9) and the NAM/CUC transcription factor GOBLET (GOB) in compound-leaf development in tomato (Solanum lycopersicum). The specific aims of th

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Ori, Naomi, and Mark Estelle. Specific mediators of auxin activity during tomato leaf and fruit development. United States Department of Agriculture, 2012. http://dx.doi.org/10.32747/2012.7597921.bard.

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The plant hormone auxin is involved in numerous developmental processes, including leaf and fruit development. The tomato (Solanumlycopersicum) gene ENTIRE (E) encodes an auxin-response inhibitor from the Aux/IAA family. While most loss-offunction mutations in Aux/IAA genes are similar to the wild type due to genetic redundancy, entire (e) mutants show specific effects on leaf and fruit development. e mutants have simple leaves, in contrast to the compound leaves of wild type tomatoes. In addition, e plants produce parthenocarpic fruits, in which fruit set occurs independently of fertilization

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Sooksai, Sarintip, and Kobkul Laoteng. Genetic study of fatty acid and lipid biosynthesis in Hansenula polymorpha. Chulalongkorn University, 2011. https://doi.org/10.58837/chula.res.2011.121.

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Two groups of Hansenula polymorpha mutants were screened by their fatty acid requirement, one requires saturated fatty acids for growth (sfa- mutamts) and the other requires unsaturated fatty acids (mfa- and pfa- mutants). Two of the sfa- mutants, S7 and S16, showed significantly difference in the fatty acid composition. S7 clearly defected in the production of C18:2∆9,12 and C18:3∆9,12,15, while S16 significantly accumulated medium-chain saturated fatty acids, C12:0 and C14:0. By tetrad analysis, the results showed that S7 had double mutation which composed of fatty acid synthesis mutation (H

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Sela, Shlomo, and Michael McClelland. Investigation of a new mechanism of desiccation-stress tolerance in Salmonella. United States Department of Agriculture, 2013. http://dx.doi.org/10.32747/2013.7598155.bard.

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Low-moisture foods (LMF) are increasingly involved in foodborne illness. While bacteria cannot grow in LMF due to the low water content, pathogens such as Salmonella can still survive in dry foods and pose health risks to consumer. We recently found that Salmonella secretes a proteinaceous compound during desiccation, which we identified as OsmY, an osmotic stress response protein of 177 amino acids. To elucidate the role of OsmY in conferring tolerance against desiccation and other stresses in Salmonella entericaserovarTyphimurium (STm), our specific objectives were: (1) Characterize the invo

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Chamovitz, Daniel A., and Zhenbiao Yang. Chemical Genetics of the COP9 Signalosome: Identification of Novel Regulators of Plant Development. United States Department of Agriculture, 2011. http://dx.doi.org/10.32747/2011.7699844.bard.

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This was an exploratory one-year study to identify chemical regulators of the COP9 signalosome. Chemical Genetics uses small molecules to modify or disrupt the function of specific genes/proteins. This is in contrast to classical genetics, in which mutations disrupt the function of genes. The underlying concept is that the functions of most proteins can be altered by the binding of a chemical, which can be found by screening large libraries for compounds that specifically affect a biological, molecular or biochemical process. In addition to screens for chemicals which inhibit specific biologic

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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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Rafaeli, Ada, and Russell Jurenka. Molecular Characterization of PBAN G-protein Coupled Receptors in Moth Pest Species: Design of Antagonists. United States Department of Agriculture, 2012. http://dx.doi.org/10.32747/2012.7593390.bard.

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The proposed research was directed at determining the activation/binding domains and gene regulation of the PBAN-R’s thereby providing information for the design and screening of potential PBAN-R-blockers and to indicate possible ways of preventing the process from proceeding to its completion. Our specific aims included: (1) The identification of the PBAN-R binding domain by a combination of: (a) in silico modeling studies for identifying specific amino-acid side chains that are likely to be involved in binding PBAN with the receptor and; (b) bioassays to verify the modeling studies using mut

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McClure, Michael A., Yitzhak Spiegel, David M. Bird, R. Salomon, and R. H. C. Curtis. Functional Analysis of Root-Knot Nematode Surface Coat Proteins to Develop Rational Targets for Plantibodies. United States Department of Agriculture, 2001. http://dx.doi.org/10.32747/2001.7575284.bard.

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The goal of this research was to provide a better understanding of the interface between root-knot nematodes, Meloidogyne spp., and their host in order to develop rational targets for plantibodies and other novel methods of nematode control directed against the nematode surface coat (SC). Specific objectives were: 1. To produce additional monoclonal SC antibodies for use in Objectives 2, 3, and 4 and as candidates for development of plantibodies. 2. To determine the production and distribution of SC proteins during the infection process. 3. To use biochemical and immunological methods to pertu

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Horwitz, Benjamin, and Nicole M. Donofrio. Identifying unique and overlapping roles of reactive oxygen species in rice blast and Southern corn leaf blight. United States Department of Agriculture, 2017. http://dx.doi.org/10.32747/2017.7604290.bard.

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Plants and their fungal pathogens both produce reactive oxygen species (ROS). CytotoxicROS act both as stressors and signals in the plant-fungal interaction. In biotrophs, a compatible interaction generates little ROS, but is followed by disease. An incompatible interaction results in a strong oxidative burst by the host, limiting infection. Necrotrophs, in contrast, thrive on dead and dying cells in an oxidant-rich local environment. Rice blast, Magnaportheoryzae, a hemibiotroph, occurs worldwide on rice and related hosts and can decimate enough rice each year to feed sixty million people. Co

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Jander, Georg, and Daniel Chamovitz. Investigation of growth regulation by maize benzoxazinoid breakdown products. United States Department of Agriculture, 2015. http://dx.doi.org/10.32747/2015.7600031.bard.

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Introduction Previous research had suggested that benzoxazinoids, a class of defensive metabolites found in maize, wheat, rye, and wild barley, are not only direct insect deterrents, but also influence other areas of plant metabolism. In particular, the benzoxazinoid 2,4-dihydroxy-7-methoxy-2H-1,4-benzoxa- zin-3(4H)- one (DIMBOA) was implicated in: (i) altering plant growth by interfering with auxin signaling, and (ii) leading to the induction of gene expression changes and secondary plant defense responses. The overall goal of this proposal was to identify mechanisms by which benzoxazinoids i

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