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المؤلفون: Rosemary M. Lemons, Jacob O. Kitzman, Xiaoyan Jia, Victor J. Chen, Mariam Maksutova, Sajini Jayakody, Bala Bharathi Burugula
المصدر: American Journal of Human Genetics
مصطلحات موضوعية: variants of uncertain significance, DNA mismatch repair, Functional testing, Mutation, Missense, Computational biology, Biology, Article, deep mutational scanning, Genetics, medicine, Humans, cancer, Missense mutation, Genetic Predisposition to Disease, Uncertain significance, Massively parallel, Genetics (clinical), medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, MSH2, genotype-phenotype, HEK293 Cells, MutS Homolog 2 Protein, Functional status
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0807246bb9be1be7c3d759d976ccf61
https://doi.org/10.1016/j.ajhg.2020.12.003 -
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المؤلفون: Xiaoyan Jia, Victor J. Chen, Bala Bharathi Burugula, Rosemary M. Lemons, Sajini Jayakody, Mariam Maksutova, Jacob O. Kitzman
مصطلحات موضوعية: MSH2, Functional testing, medicine, Missense mutation, DNA mismatch repair, Computational biology, Biology, medicine.disease, Massively parallel, Uncertain significance, Lynch syndrome, Conserved sequence
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b291fe5e4468a4a4bada56b3dd38df9
https://doi.org/10.1101/2020.06.03.133017 -
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المؤلفون: Guy M. Lenk, Miriam H. Meisler, Rosemary M. Lemons, Margaret Plank, Joel A. Swanson, Michael J. Davis, Jacob O. Kitzman, Brian Gregorka, Emma Flynn, Christen M. Frei, Young Nam Park
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Molecular biology, Gene Expression, lcsh:Medicine, Vacuole, Biology, Article, Cell Line, Immunophenotyping, Gene Knockout Techniques, Mice, 03 medical and health sciences, 0302 clinical medicine, Lysosome, Organelle, medicine, Animals, HAP1 cells, Clustered Regularly Interspaced Short Palindromic Repeats, Genetic Testing, lcsh:Science, Gene, Genetic Association Studies, Organelles, Multidisciplinary, Base Sequence, Flavoproteins, lcsh:R, High-throughput screening, Sequence Analysis, DNA, Fibroblasts, Hydrogen-Ion Concentration, Cell sorting, Endolysosome, High-Throughput Screening Assays, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Cellular Microenvironment, Vacuolization, Mutation, lcsh:Q, Phosphoinositide Phosphatases, Lysosomes, Biomarkers, 030217 neurology & neurosurgery
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المؤلفون: Debora Braslavsky, Rosemary M. Lemons, Sally A. Camper, Adriana Seilicovich, Amanda H. Mortensen, Alexandre Z. Daly, Marcelo A. Martí, María Inés Pérez Millán, Ignacio Bergadá, Jacob O. Kitzman, Ana Keselman, Sebastián Alexis Vishnopolska, Juan Pablo Bustamante
المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, growth hormone deficiency, Candidate gene, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, DNA sequencing, Growth hormone deficiency, Ciencias Biológicas, purl.org/becyt/ford/1 [https], Genética y Herencia, 03 medical and health sciences, symbols.namesake, single‐molecule molecular inversion probes, 0302 clinical medicine, Genetics, medicine, CONGENITAL HYPOPITUITARISM, purl.org/becyt/ford/1.6 [https], Molecular Biology, Gene, Genetics (clinical), congenital hypopituitarism, Sanger sequencing, Mutation, GH1, GROWTH HORMONE DEFICIENCY, Original Articles, medicine.disease, 3. Good health, genomic DNA, 030104 developmental biology, symbols, IGHD, SINGLE-MOLECULE MOLECULAR INVERSION PROBES, Original Article, CIENCIAS NATURALES Y EXACTAS
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b046a58dc3418b5eadfabc2d4e5c9453
http://doi.wiley.com/10.1002/mgg3.395 -
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المؤلفون: Felipe J Nunez, Janet Fazal-Salom, Alan Mackay, Henry D. Appelman, Pedro R. Lowenstein, Carl Koschmann, Soyeon Roh, Anda Alexandra Calinescu, Jacqueline A. Brosnan-Cashman, Daniel Thomas, Neha Kamran, Vera Gorbunova, Flor M. Mendez, Marta Dzaman, Johnathon Krasinkiewicz, Alan K. Meeker, Robert Doherty, Maria G. Castro, Lili Zhao, Lakshman Mulpuri, Chris Jones, David O. Ferguson, Youping Li, Rosemary M. Lemons
مصطلحات موضوعية: 0301 basic medicine, Mutation rate, X-linked Nuclear Protein, DNA End-Joining Repair, DNA Copy Number Variations, DNA repair, DNA damage, Transposases, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Mice, Glioma, medicine, Animals, Humans, ATRX, Cell Proliferation, Brain Neoplasms, DNA Helicases, Microsatellite instability, Nuclear Proteins, Telomere Homeostasis, General Medicine, medicine.disease, Chromosomes, Mammalian, Survival Analysis, Non-homologous end joining, Disease Models, Animal, 030104 developmental biology, Histone, Mutation, Cancer research, biology.protein, Microsatellite Instability, DNA Damage
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b1f2eed0ee0716f6e0e6f1b5736be96
https://europepmc.org/articles/PMC5381643/ -
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المؤلفون: Lili Zhao, Henry D. Appelman, Alan K. Meeker, Neha Kamran, David O. Ferguson, Alan Mckay, Maria G. Castro, Felipe J Nunez, Janet Fazal Salom, Alexandra Calinescu, Jonathon Krasinkiewicz, Pedro R. Lowenstein, Flor M. Mendez, Marta Dzaman, Rosemary M. Lemons, Daniel Thomas, Lakshman Mulpuri, Vera Gorbunova, Chris Jones, Carl Koschmann
مصطلحات موضوعية: Cancer Research, Mutation, Mutation rate, DNA repair, Biology, medicine.disease_cause, medicine.disease, Non-homologous end joining, Histone, Oncology, Glioma, Cancer research, medicine, biology.protein, Tumor growth, Neurology (clinical), Abstracts from the 20th Annual Scientific Meeting of the Society for Neuro-Oncology, ATRX
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39df04c809398e976cfefe1aa96384c
https://europepmc.org/articles/PMC4639137/ -
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المؤلفون: Christopher Paran, Philip Ng, Ashley Appelhans, Robert Doherty, Johnny Krasinkiewicz, Rosemary M. Lemons, Henry D. Appelman, Maria G. Castro, Pedro R. Lowenstein, Donna Palmer, Nathan VanderVeen
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 1, Iss C (2014)
Molecular Therapy. Methods & Clinical Developmentمصطلحات موضوعية: lcsh:QH426-470, Transgene, Genetic enhancement, medicine.medical_treatment, Pharmacology, Article, 03 medical and health sciences, 0302 clinical medicine, Immune system, Gene expression, Genetics, medicine, lcsh:QH573-671, Molecular Biology, 030304 developmental biology, Doxycycline, 0303 health sciences, biology, Microglia, business.industry, lcsh:Cytology, biology.organism_classification, Callithrix, 3. Good health, lcsh:Genetics, Cytokine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Molecular Medicine, business, medicine.drug
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المؤلفون: Shirley Rainier, Melanie Bui, Peter Hedera, Memnune Yüksel Apak, Christian Weber, John K. Fink, Terry Heiman-Patterson, Lei Ming, Turgut Tukel, Rosemary M. Lemons, David Alvarado, Xinping Zhao
المصدر: Nature Genetics. 29:326-331
مصطلحات موضوعية: Male, Models, Molecular, Atlastin, Protein Conformation, Hereditary spastic paraplegia, Molecular Sequence Data, Locus (genetics), Biology, Spastin, medicine.disease_cause, GTP Phosphohydrolases, Contig Mapping, GTP-Binding Proteins, Genetics, medicine, GTPase Gene, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Gene, Mutation, Autosome, Base Sequence, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Spastic Paraplegia, Hereditary, Membrane Proteins, medicine.disease, Pedigree, Chromosomes, Human, Pair 2, Female, Lod Score, Sequence Alignment
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المصدر: Somatic Cell and Molecular Genetics. 18:1-6
مصطلحات موضوعية: Cell Survival, Cystinosis, Cystine, Cell Separation, Biology, chemistry.chemical_compound, Nephropathic Cystinosis, Lysosome, Genetics, medicine, Humans, Cytotoxic T cell, Fibroblast, Biological Transport, Cell Biology, General Medicine, Transfection, Fibroblasts, medicine.disease, Transport protein, Cell biology, medicine.anatomical_structure, chemistry, Biochemistry, Lysosomes
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المؤلفون: Rosemary M. Lemons, Jess G. Thoene
المصدر: Journal of Biological Chemistry. 266:14378-14382
مصطلحات موضوعية: chemistry.chemical_element, Cell Biology, Calcium, Membrane transport, Biochemistry, Molecular biology, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Lysosome, medicine, Inositol, Hexosaminidase, Cysteamine, Molecular Biology, Percoll, Ion transporter
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cb4874e68fb4e4136137fcd0f5e2a0da
https://doi.org/10.1016/s0021-9258(18)98695-3