المؤلفون: Giacoletto, Christopher J, Rotter, Jerome I, Grody, Wayne W, Schiller, Martin R

المصدر: International Journal of Molecular Sciences. 24(13)

مصطلحات موضوعية: Genetics, Human Genome, Humans, Silent Mutation, Transcription Factors, Gene Expression Regulation, synonymous variant, silent variant, sequence, variant interpretation, Other Chemical Sciences, Other Biological Sciences, Chemical Physics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1n64w8rb
https://escholarship.org/content/qt1n64w8rb/qt1n64w8rb.pdf

المؤلفون: Rubio, Andrew O, Summers, Kyle

المصدر: PLOS ONE. 17(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Pediatric, 1.1 Normal biological development and functioning, Generic health relevance, Amino Acid Substitution, Animals, Animals, Domestic, Animals, Wild, Cell Movement, Databases, Genetic, Domestication, Gene Regulatory Networks, Neural Crest, Selection, Genetic, Sequence Analysis, DNA, Silent Mutation, Spine, Vertebrates, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8318b2bd
https://escholarship.org/content/qt8318b2bd/qt8318b2bd.pdf

المؤلفون: Ye Ji Lee, Yejin Lee, Youn Jung Kim, Zang Hee Lee, Jung-Wook Kim

المصدر: Journal of Personalized Medicine, Vol 14, Iss 2, p 191 (2024)

مصطلحات موضوعية: hereditary, splicing mutation, oligodontia, PAX9, silent mutation, Medicine

Relation: https://www.mdpi.com/2075-4426/14/2/191; https://doaj.org/toc/2075-4426; https://doaj.org/article/5e73c4896777415496c8d784736128a1

الاتاحة: https://doi.org/10.3390/jpm14020191
https://doaj.org/article/5e73c4896777415496c8d784736128a1

المؤلفون: Peter Oelschlaeger

المصدر: Biomolecules, Vol 14, Iss 1, p 132 (2024)

مصطلحات موضوعية: synonymous mutation, silent mutation, codon usage bias, mRNA secondary structure, translation efficiency, genetic code, Microbiology, QR1-502

Relation: https://www.mdpi.com/2218-273X/14/1/132; https://doaj.org/toc/2218-273X; https://doaj.org/article/7706cea1a18e4cbca9a20dfb307c9975

الاتاحة: https://doi.org/10.3390/biom14010132
https://doaj.org/article/7706cea1a18e4cbca9a20dfb307c9975

المؤلفون: Domingo, Deepti, Nawaz, Urwah, Corbett, Mark, Espinoza, Josh, Tatton-Brown, Katrina, Coman, David, Gecz, Jozef, Jolly, Lachlan, Wilkinson, Miles

المصدر: Human Molecular Genetics. 29(15)

مصطلحات موضوعية: Cell Line, Child, Preschool, Codon, Nonsense, Gene Regulatory Networks, Humans, Infant, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Nonsense Mediated mRNA Decay, RNA Splicing, RNA, Messenger, RNA-Binding Proteins, Silent Mutation, Speech Disorders

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9ck6w1nj

المؤلفون: Waseem Chauhan, Rafat Fatma, Zeeba Zaka-ur-Rab, Mohammad Afzal

المصدر: Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)

مصطلحات موضوعية: β-thalassemia, Case report, CD 41/42 (-CTTT), IVS II-666 (C>T), Compound heterozygous, Silent mutation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/fb010e0b638c40d3bd0858d1db15143a

المؤلفون: Zhengrong Wang, Yuqing Xu, Yixi Sun, Shuang Wang, Minyue Dong

المصدر: Frontiers in Pediatrics, Vol 10 (2023)

مصطلحات موضوعية: Glanzmann thrombasthenia, integrin αIIbβ3, ITGB3, silent mutation, whole exome sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1062900/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/926764d008aa4cdb80604b8b6d6948f1

المؤلفون: Anna Letelier, Rolf Ljung, Anna Olsson, Nadine G. Andersson

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)

مصطلحات موضوعية: exon skipping, F8 gene, hemophilia A, silent mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/65fba4f1b4a3429699a5059e18eb080b

المؤلفون: Youn Jung Kim, Yejin Lee, Hong Zhang, Figen Seymen, Mine Koruyucu, Sule Bayrak, Nuray Tuloglu, James P. Simmer, Jan C.-C. Hu, Jung-Wook Kim

المصدر: Journal of Personalized Medicine; Volume 12; Issue 6; Pages: 1002

مصطلحات موضوعية: hereditary, splicing mutation, dentinogenesis imperfecta, dentin sialophosphoprotein, DSPP, silent mutation, genotype−phenotype relationship

وصف الملف: application/pdf

Relation: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm12061002

الاتاحة: https://doi.org/10.3390/jpm12061002

المؤلفون: Kim, Youn Jung, Lee, Yejin, Zhang, Hong, Seymen, Figen, Koruyucu, Mine, Bayrak, Şule, Tüloğlu, Nuray, Simmer, James P., Hu, Jan C-C., Kim, Jung-Wook

المساهمون: Seymen, Figen

مصطلحات موضوعية: Hereditary, Splicing Mutation, Dentinogenesis Imperfecta, Dentin Sialophosphoprotein, DSPP, Silent Mutation, Genotype−Phenotype Relationship

وصف الملف: application/pdf

Relation: Journal of Personalized Medicine; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; Kim, Y. J., Lee, Y., Zhang, H., Seymen, F., Koruyucu, M., Bayrak, Ş., Tüloğlu, N., Simmer, J. P., Hu, Jan C-C., Kim, J. W. (2022). Translated mutant DSPP mRNA expression level impacts the severity of dentin defects. Journal of Personalized Medicine, 12(6), 1002.; https://hdl.handle.net/20.500.12939/2587; 12

الاتاحة: https://hdl.handle.net/20.500.12939/2587

المؤلفون: Madhavi Latha Yadav Bangaru, PhD, Ravi Kumar Medabalimi, Sobhan Babu, PhD, Nidhanapati K. Raghavendra, PhD

المصدر: SoftwareX, Vol 16, Iss , Pp 100881- (2021)

مصطلحات موضوعية: Site-directed mutagenesis, Python 3, Silent mutation, Restriction site, DNA mutant primer, Computer software, QA76.75-76.765

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352711021001448; https://doaj.org/toc/2352-7110

URL الوصول: https://doaj.org/article/cd0ed638cc514d7999cb829537c20ff8

المؤلفون: Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar, Xin Lu

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: von Hippel-Lindau disease, Hemangioblastoma, Pheochromocytoma, Synonymous mutation, Silent mutation, Alternative splicing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-020-0976-7; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/daccc649e19049f383c7b451b9e4c3df

المؤلفون: Hossam Murad, Faten Moassas, Nour A. L. Fakseh

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

مصطلحات موضوعية: Rare silent mutation, Syria, CAP+1 [A>C], β‐Thalassemia (β‐thal), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/7296232119ce4a52aa7cb0f5567df1d3

المؤلفون: Lai CC, Chen CC, Lu YC, Chuang YC, Tang HJ

المصدر: Infection and Drug Resistance, Vol Volume 11, Pp 681-687 (2018)

مصطلحات موضوعية: MRSA, silent mutation, rpoB474, ciprofloxacin, resistance, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://www.dovepress.com/the-clinical-significance-of-silent-mutations-with-respect-to-ciproflo-peer-reviewed-article-IDR; https://doaj.org/toc/1178-6973

URL الوصول: https://doaj.org/article/e93f764c009b4ea89a7088661749daa7

المؤلفون: Wilson, D, Crook, DW, Peto, TEA, Walker, AS, Hoosdally, SJ, Gibertoni Cruz, AL, Carter, J, Grazian, Clara, Earle, SG, Kouchaki, S, Lachapelle, A, Yang, Y, Clifton, DA, Fowler, PW, Iqbal, Z, Hunt, M, Knaggs, J, Smith, EG, Rathod, P, Jarrett, L, Matias, D, Cirillo, DM, Borroni, E, Battaglia, S, Ghodousi, A, Spitaleri, A, Cabibbe, A, Tahseen, S, Nilgiriwala, K, Shah, S, Rodrigues, C, Kambli, P, Surve, U, Khot, R, NIemann, S, Kohl, TA, Merker, M, Hoffman, H, Todt, K, Plesnik, S, Ismail, N, Omar, SV, Joseph, L, Thwaites, G, Thoung, TNT, Ngoc, NH, Srinivasan, V, Walker, TM, Moore, D, Coronel, J, Solano, W, Gao, GF, He, G, Zhao, Y, Liu, C, Ma, A, Zhu, B, Laurenson, I, Claxton, P, Koch, A, Wilkinson, R, Lalvani, A, Posey, J, Gardy, J, Werngren, J, Paton, N, Jou, R, Wu, MH, Lin, WH, Ferrazoli, L, Siqueira de Oliveira, R, Arandjelovic, I, Chaipresert, A, Comas, I, Roig, CJ, Drobniewski, FA, Farhat, MR, Gao, Q, Hee, ROT, Sintchenko, V

المساهمون: Rosenberg, Michael

المصدر: urn:ISSN:0737-4038 ; urn:ISSN:1537-1719 ; Molecular Biology and Evolution, 37, 8, 2450-2460

مصطلحات موضوعية: Biotechnology, Genetics, Human Genome, 3 Good Health and Well Being, DEAD-box RNA Helicases, Genetic Techniques, Genome, Bacterial, Models, Genetic, Mycobacterium tuberculosis, Selection, Silent Mutation, adaptation, big data, dN/dS, natural selection, parent-dependent mutation, recombination, CRyPTIC Consortium, anzsrc-for: 0601 Biochemistry and Cell Biology, anzsrc-for: 0603 Evolutionary Biology, anzsrc-for: 0604 Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_66543; https://unsworks.unsw.edu.au/bitstreams/f6c530a5-bb92-4304-9acd-33e49e306473/download; https://doi.org/10.1093/molbev/msaa069

الاتاحة: http://hdl.handle.net/1959.4/unsworks_66543
https://unsworks.unsw.edu.au/bitstreams/f6c530a5-bb92-4304-9acd-33e49e306473/download
https://doi.org/10.1093/molbev/msaa069

المؤلفون: Het Samir Desai, Michael Thompson, Bhagirath Singh Chauhan

المصدر: Agronomy; Volume 10; Issue 9; Pages: 1266

مصطلحات موضوعية: feathertop Rhodes grass, DNA sequencing, sequential herbicide application, missense mutation, silent mutation, EPSPS, double knock

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Weed Science and Weed Management; https://dx.doi.org/10.3390/agronomy10091266

الاتاحة: https://doi.org/10.3390/agronomy10091266

المؤلفون: Elena McBeath, Jan Parker-Thornburg, Yuka Fujii, Neeraj Aryal, Chad Smith, Marie-Claude Hofmann, Jun-ichi Abe, Keigi Fujiwara

المصدر: Genes; Volume 11; Issue 6; Pages: 628

مصطلحات موضوعية: CRISPR/Cas9, gene targeting, genetic engineering, blastocyst, silent mutation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Technologies and Resources for Genetics; https://dx.doi.org/10.3390/genes11060628

الاتاحة: https://doi.org/10.3390/genes11060628

المؤلفون: Yixi Sun, Yanfeng Li, Min Chen, Yuqin Luo, Yeqing Qian, Yanmei Yang, Hong Lu, Fenlan Lou, Minyue Dong

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: hydrocephalus, L1CAM, whole-exome sequencing, silent mutation, splicing mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00817/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/84fa269d97894e518209a1ad6f9e6688

المؤلفون: Kheloud M Alhamoudi, Balgees Alghamdi, Meshael Alswailem, Abdul Nasir, Abeer Aljomaiah, Hindi Al-Hindi, Ali S Alzahrani

المصدر: The Journal of Clinical Endocrinology & Metabolism. 107:2883-2891

مصطلحات موضوعية: Male, DNA, Complementary, Hypophosphatemia, Nucleotides, Adenine, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Genetic Diseases, X-Linked, PHEX Phosphate Regulating Neutral Endopeptidase, Biochemistry, Pedigree, Cytosine, Endocrinology, Mutation, Codon, Terminator, Humans, Female, Familial Hypophosphatemic Rickets, Amino Acids, Silent Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b27cd9e236ccace526556dc66cd43e
https://doi.org/10.1210/clinem/dgac435

المؤلفون: Kang Wang, Yuan Yang, Jian-Hua Zhou, Lin-Xia Deng, Jing Yang, Luo-Wen Zhou

المصدر: Current Medical Science. 41:1029-1036

مصطلحات موضوعية: Adult, Male, Models, Molecular, Silent mutation, China, Heterozygote, TRPP Cation Channels, Protein Conformation, RNA Splicing, Autosomal dominant polycystic kidney disease, Gene mutation, Biology, urologic and male genital diseases, Biochemistry, Paternal Age, Solitary Kidney, symbols.namesake, Exon, Exome Sequencing, Genetics, medicine, Humans, Child, Silent Mutation, Sanger sequencing, PKD1, urogenital system, Middle Aged, Polycystic Kidney, Autosomal Dominant, medicine.disease, female genital diseases and pregnancy complications, Pedigree, Mutation (genetic algorithm), symbols, Female, Synonymous substitution

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc3756c2fad2aceb3834949e4319df0
https://doi.org/10.1007/s11596-021-2436-9