Works matching Point mutation (Biology)

Results: 578

Assessing the reliability of point mutation as data augmentation for deep learning with genomic data.

Published in:

BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05787-6

By:

Lee, Hyunjung;
Ozbulak, Utku;
Park, Homin;
Depuydt, Stephen;
De Neve, Wesley;
Vankerschaver, Joris

Publication type:

Article

Cloning Systems in Bacillus : Bioengineering of Metabolic Pathways for Valuable Recombinant Products.

Published in:

Fermentation (Basel), 2024, v. 10, n. 1, p. 50, doi. 10.3390/fermentation10010050

By:

Arsov, Alexander;
Armenova, Nadya;
Gergov, Emanoel;
Petrov, Kaloyan;
Petrova, Penka

Publication type:

Article

Tumor DNA in cerebral spinal fluid reflects clinical course in a patient with melanoma leptomeningeal brain metastases.

Published in:

Journal of Neuro-Oncology, 2016, v. 128, n. 1, p. 93, doi. 10.1007/s11060-016-2081-5

By:

Li, Yingmei;
Pan, Wenying;
Connolly, Ian;
Reddy, Sunil;
Nagpal, Seema;
Quake, Stephen;
Gephart, Melanie

Publication type:

Article

Low Prevalence of K-RAS, EGF-R and BRAF Mutations in Sinonasal Adenocarcinomas. Implications for Anti-EGFR Treatments.

Published in:

Pathology & Oncology Research, 2014, v. 20, n. 3, p. 571, doi. 10.1007/s12253-013-9730-1

By:

Franchi, Alessandro;
Innocenti, Duccio;
Palomba, Annarita;
Miligi, Lucia;
Paiar, Fabiola;
Franzese, Ciro;
Santucci, Marco

Publication type:

Article

Apoptosis of Human Pancreatic Carcinoma PC-2 Cells by an Antisense Oligonucleotide Specific to Point Mutated K-ras.

Published in:

Pathology & Oncology Research, 2014, v. 20, n. 1, p. 81, doi. 10.1007/s12253-013-9661-x

By:

Yongxiang, Wang;
Liang, Gao;
Qinshu, Shao

Publication type:

Article

Identification of a common single nucleotide polymorphism at the primer binding site of D2S1360 that causes heterozygote peak imbalance when using the Investigator HDplex Kit.

Published in:

International Journal of Legal Medicine, 2017, v. 131, n. 6, p. 1531, doi. 10.1007/s00414-017-1571-0

By:

Inokuchi, Shota;
Yamashita, Yasuhiro;
Nishimura, Kazuma;
Nakanishi, Hiroaki;
Saito, Kazuyuki

Publication type:

Article

Specificity Assessment of CRISPR Genome Editing of Oncogenic EGFR Point Mutation with Single-Base Differences.

Published in:

Molecules, 2020, v. 25, n. 1, p. 52, doi. 10.3390/molecules25010052

By:

Bae, Taegeun;
Kim, Hanseop;
Kim, Jeong Hee;
Kim, Yong Jun;
Lee, Seung Hwan;
Ham, Byung-Joo;
Hur, Junho K.;
Steer, Clifford J.

Publication type:

Article

DCP-LA Activates Cytosolic PKCε by Interacting with the Phosphatidylserine Binding/Associating Sites Arg50 and Ile89 in the C2-Like Domain.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2015, v. 37, n. 1, p. 193, doi. 10.1159/000430344

By:

Kanno, Takeshi;
Tsuchiya, ayako;
Shimizu, Tadashi;
Mabuchi, Miyuki;
Tanaka, akito;
Nishizaki, Tomoyuki

Publication type:

Article

Comparing genomes with rearrangements and segmental duplications.

Published in:

Bioinformatics, 2015, v. 31, n. 12, p. i329, doi. 10.1093/bioinformatics/btv229

By:

Shao, Mingfu;
Moret, Bernard M. E.

Publication type:

Article

Predicting folding free energy changes upon single point mutations.

Published in:

Bioinformatics, 2012, v. 28, n. 5, p. 664, doi. 10.1093/bioinformatics/bts005

By:

Zhang, Zhe;
Wang, Lin;
Gao, Yang;
Zhang, Jie;
Zhenirovskyy, Maxim;
Alexov, Emil

Publication type:

Article

Predicting Transmissibility-Increasing Coronavirus (SARS-CoV-2) Mutations.

Published in:

COVID, 2024, v. 4, n. 6, p. 825, doi. 10.3390/covid4060055

By:

Çalışkan, Ege;
Işık, Murat;
Kuru, Cansu İlke;
Chakraborty, Somenath

Publication type:

Article

IMPI: An Interface for Low-Frequency Point Mutation Identification Exemplified on Resistance Mutations in Chronic Myeloid Leukemia.

Published in:

BioMedInformatics, 2024, v. 4, n. 2, p. 1289, doi. 10.3390/biomedinformatics4020071

By:

Vetter, Julia;
Burghofer, Jonathan;
Malli, Theodora;
Lin, Anna M.;
Webersinke, Gerald;
Wiederstein, Markus;
Winkler, Stephan M.;
Schaller, Susanne

Publication type:

Article

Accumulation of genetic and epigenetic alterations in normal cells and cancer risk.

Published in:

NPJ Precision Oncology, 2019, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41698-019-0079-0

By:

Takeshima, Hideyuki;
Ushijima, Toshikazu

Publication type:

Article

Disease genetics: Network effects of disease mutations.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 6, p. 317, doi. 10.1038/nrg3957

By:

Burgess, Darren J.

Publication type:

Article

Improving one-step scarless genome editing in Drosophila melanogaster by combining ovoD co-CRISPR selection with sgRNA target site masking.

Published in:

Biology Methods & Protocols, 2022, v. 7, n. 1, p. 1, doi. 10.1093/biomethods/bpac003

By:

Götze, Katharina J;
Mrestani, Achmed;
Beckmann, Paula;
Krohn, Knut;
Duc, Diana Le;
Velluva, Akhil;
Böhme, Mathias A;
Heckmann, Manfred;
Jamra, Rami Abou;
Lemke, Johannes R;
Bläker, Hendrik;
Scholz, Nicole;
Ljaschenko, Dmitrij;
Langenhan, Tobias

Publication type:

Article

Non-Invasive Imaging of Amyloid Deposits in a Mouse Model of AGel Using 99mTc-Modified Nanobodies and SPECT/CT.

Published in:

2016

By:

Verhelle, Adriaan;
Van Overbeke, Wouter;
Peleman, Cindy;
De Smet, Rebecca;
Zwaenepoel, Olivier;
Lahoutte, Tony;
Van Dorpe, Jo;
Devoogdt, Nick;
Gettemans, Jan

Publication type:

journal article

RESPONSE.

Published in:

2015

By:

Bainbridge, Matthew;
Bondy, Melissa L.

Publication type:

Letter to the Editor

Rapid generation of mouse models with defined point mutations by the CRISPR/ Cas9 system.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep05396

By:

Masafumi Inui;
Mami Miyado;
Maki Igarashi;
Moe Tamano;
Atsushi Kubo;
Satoshi Yamashita;
Hiroshi Asahara;
Maki Fukami;
Shuji Takada

Publication type:

Article

Investigating the Impact of Asp181 Point Mutations on Interactions between PTP1B and Phosphotyrosine Substrate.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep05095

By:

Mengyuan Liu;
Lushan Wang;
Xun Sun;
Xian Zhao

Publication type:

Article

Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep04121

By:

Xiang-Lian Ge;
Yilan Zhang;
Yaming Wu;
Jineng LV;
Wei Zhang;
Zi-Bing Jin;
Jia Qu;
Feng Gu

Publication type:

Article

In-silico Evaluation of Rare Codons and their Positions in the Structure of ATP8b1 Gene.

Published in:

Journal of Biomedical Physics & Engineering, 2019, v. 9, n. 1, p. 105, doi. 10.31661/jbpe.v9i1feb.616

By:

M., Zarenezhad;
S. M., Dehghani;
F., Ejtehadi;
M. R., Fattahi;
M., Mortazavi;
S. M. B., Tabei

Publication type:

Article

Drug resistance dependent on allostery: A P-loop rigor Eg5 mutant exhibits resistance to allosteric inhibition by STLC.

Published in:

Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.965455

By:

Indorato, Rose-Laure;
DeBonis, Salvatore;
Garcia-Saez, Isabel;
Skoufias, Dimitrios A.

Publication type:

Article

Role of single-point mutations and deletions on transition temperatures in ideal proteinogenic heteropolymer chains in the gas phase.

Published in:

European Biophysics Journal, 2016, v. 45, n. 5, p. 393, doi. 10.1007/s00249-015-1108-8

By:

Olivares-Quiroz, L.

Publication type:

Article

Molecular level understanding of resistance to nalidixic acid in Salmonella enteric serovar typhimurium associates with the S83F sequence type.

Published in:

European Biophysics Journal, 2016, v. 45, n. 1, p. 35, doi. 10.1007/s00249-015-1073-2

By:

Preethi, B.;
Ramanathan, K.

Publication type:

Article

PIMADb: A Database of Protein-Protein Interactions in Huge Macromolecular Assemblies.

Published in:

Bioinformatics & Biology Insights, 2016, n. 10, p. 105, doi. 10.4137/BBI.S38416

By:

Mathew, Oommen K.;
Sowdhamini, Ramanathan

Publication type:

Article

Massive Expansion of Gypsy-Like Retrotransposons in Microbotryum Fungi.

Published in:

Genome Biology & Evolution, 2017, v. 9, n. 2, p. 363, doi. 10.1093/gbe/evx011

By:

Horns, Felix;
Petit, Elsa;
Hood, Michael E.

Publication type:

Article

OcculterCut: A Comprehensive Survey of AT-Rich Regions in Fungal Genomes.

Published in:

Genome Biology & Evolution, 2016, v. 8, n. 6, p. 2044, doi. 10.1093/gbe/evw121

By:

Testa, Alison C.;
Oliver, Richard P.;
Hane, James K.

Publication type:

Article

Patterns of Repeat-Induced Point Mutation in Transposable Elements of Basidiomycete Fungi.

Published in:

Genome Biology & Evolution, 2012, v. 4, n. 9, p. 240, doi. 10.1093/gbe/evs005

By:

Horns, Felix;
Petit, Elsa;
Yockteng, Roxana;
Hood, Michael E.

Publication type:

Article

Patterns of Repeat-Induced Point Mutation in Transposable Elements of Basidiomycete Fungi.

Published in:

Genome Biology & Evolution, 2012, v. 4, n. 3, p. 240, doi. 10.1093/gbe/evs005

By:

Horns, Felix;
Petit, Elsa;
Yockteng, Roxana;
Hood, Michael E.

Publication type:

Article

L925I Mutation in the Para-Type Sodium Channel Is Associated with Pyrethroid Resistance in Triatoma infestans from the Gran Chaco Region.

Published in:

PLoS Neglected Tropical Diseases, 2014, v. 8, n. 1, p. 1, doi. 10.1371/journal.pntd.0002659

By:

Capriotti, Natalia;
Mougabure-Cueto, Gastón;
Rivera-Pomar, Rolando;
Ons, Sheila

Publication type:

Article

Gene Amplification and Point Mutations in Pyrimidine Metabolic Genes in 5-Fluorouracil Resistant Leishmania infantum.

Published in:

PLoS Neglected Tropical Diseases, 2013, v. 7, n. 11, p. 1, doi. 10.1371/journal.pntd.0002564

By:

Ritt, Jean-François;
Raymond, Frédéric;
Leprohon, Philippe;
Légaré, Danielle;
Corbeil, Jacques;
Ouellette, Marc

Publication type:

Article

Gene Amplification and Point Mutations in Pyrimidine Metabolic Genes in 5-Fluorouracil Resistant Leishmania infantum.

Published in:

PLoS Neglected Tropical Diseases, 2013, v. 7, n. 11, p. 1, doi. 10.1371/journal.pntd.0002564

By:

Ritt, Jean-François;
Raymond, Frédéric;
Leprohon, Philippe;
Légaré, Danielle;
Corbeil, Jacques;
Ouellette, Marc

Publication type:

Article

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.

Published in:

Breast Cancer Research, 2016, v. 18, p. 1, doi. 10.1186/s13058-016-0762-9

By:

Catucci, Irene;
Radice, Paolo;
Milne, Roger L.;
Couch, Fergus J.;
Southey, Melissa C.;
Peterlongo, Paolo

Publication type:

Article

Identification and Characterization of a Novel Fiber Mutant from Transgenic Progeny in Cotton

Published in:

Acta Agronomica Sinica / Zuowu Xuebao, 2012, v. 38, n. 1, p. 36, doi. 10.1016/S1875-2780(11)60096-5

By:

ZHANG, Rui;
LÜ, Fen-Ni;
WANG, Hai-Hai;
GUO, Wang-Zhen

Publication type:

Article

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Published in:

PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0212370

By:

Shoji, Tetsuaki;
Konno, Satoshi;
Niida, Yo;
Ogi, Takahiro;
Suzuki, Masaru;
Shimizu, Kaoruko;
Hida, Yasuhiro;
Kaga, Kichizo;
Seyama, Kuniaki;
Naka, Tomoaki;
Matsuno, Yoshihiro;
Nishimura, Masaharu

Publication type:

Article

Generation of TGFBI knockout ABCG2+/ABCB5+ double-positive limbal epithelial stem cells by CRISPR/Cas9-mediated genome editing.

Published in:

PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211864

By:

Kim, Eung Kweon;
Kim, Seunghyuk;
Maeng, Yong-Sun

Publication type:

Article

Dissection of the regulatory role for the N-terminal domain in Candida albicans protein phosphatase Z1.

Published in:

PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211426

By:

Szabó, Krisztina;
Kónya, Zoltán;
Erdődi, Ferenc;
Farkas, Ilona;
Dombrádi, Viktor

Publication type:

Article

Analysis of KRAS, NRAS and BRAF mutational profile by combination of in-tube hybridization and universal tag-microarray in tumor tissue and plasma of colorectal cancer patients.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0207876

By:

Damin, Francesco;
Galbiati, Silvia;
Soriani, Nadia;
Burgio, Valentina;
Ronzoni, Monica;
Ferrari, Maurizio;
Chiari, Marcella

Publication type:

Article

Identification of Lycopene epsilon cyclase (LCYE) gene mutants to potentially increase β-carotene content in durum wheat (Triticum turgidum L.ssp. durum) through TILLING.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208948

By:

Richaud, Daniela;
Stange, Claudia;
Gadaleta, Agata;
Colasuonno, Pasqualina;
Parada, Roberto;
Schwember, Andrés R.

Publication type:

Article

A new peptide nucleotide acid biosensor for electrochemical detection of single nucleotide polymorphism in duplex DNA via triplex structure formation.

Published in:

Journal of the Iranian Chemical Society, 2013, v. 10, n. 6, p. 1075, doi. 10.1007/s13738-013-0254-0

By:

Hamidi-Asl, Ezat;
Raoof, Jahan;
Ojani, Reza;
Golabi, Seyed;
Hejazi, Mohammad

Publication type:

Article

Assessment of LMNA Copy Number Variation in 58 Probands with Dilated Cardiomyopathy.

Published in:

CTS: Clinical & Translational Science, 2011, v. 4, n. 5, p. 351, doi. 10.1111/j.1752-8062.2011.00305.x

By:

Norton, Nadine;
Siegfried, Jill D.;
Li, Duanxiang;
Hershberger, Ray E.

Publication type:

Article

A complex hierarchical quorum-sensing circuitry modulates phenazine gene expression in Pseudomonas aeruginosa.

Published in:

Journal of Infection in Developing Countries, 2017, v. 11, n. 12, p. 919, doi. 10.3855/jidc.8775

By:

El-Aziz, Norhan K. Abd;
El-Hamid, Marwa I. Abd;
El-Naenaeey, El-sayed Y.

Publication type:

Article

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1171, doi. 10.1007/s11011-016-9861-7

By:

Abdel-Salam, Ghada;
Abdel-Hamid, Mohamed;
Ismail, Samira;
Hosny, Heba;
Omar, Tarek;
Effat, Laila;
Aglan, Mona;
Temtamy, Samia;
Zaki, Maha

Publication type:

Article

PCR cycles above routine numbers do not compromise high-throughput DNA barcoding results.

Published in:

Genome, 2017, v. 60, n. 10, p. 868, doi. 10.1139/gen-2017-0081

By:

Vierna, J.;
Doña, J.;
Vizcaíno, A.;
Serrano, D.;
Jovani, R.;
Chain, F.

Publication type:

Article

Analysis of ATP6 sequence diversity in the Triticum- Aegilops species group reveals the crucial role of rearrangement in mitochondrial genome evolution.

Published in:

Genome, 2014, v. 57, n. 5, p. 279, doi. 10.1139/gen-2014-0024

By:

Soltani, Ali;
Ghavami, Farhad;
Mergoum, Mohamed;
Hegstad, Justin;
Noyszewski, Andrzej;
Meinhardt, Steven;
Kianian, Shahryar F.;
Bonen, L.

Publication type:

Article

Analysis of the essentiality of ROM2 genes in the pathogenic yeasts Candida glabrata and Candida albicans using temperature-sensitive mutants.

Published in:

Journal of Applied Microbiology, 2015, v. 118, n. 4, p. 851, doi. 10.1111/jam.12745

By:

Kanno, T.;
Takekawa, D.;
Miyakawa, Y.

Publication type:

Article

Mutation Spectra of Kras and Tp53 in Urethral and Lung Neoplasms in B6C3F1 Mice Treated with 3,3′,4,4′-Tetrachloroazobenzene.

Published in:

Toxicologic Pathology, 2014, v. 42, n. 3, p. 555, doi. 10.1177/0192623313491169

By:

Bhusari, Sachin;
Malarkey, David E.;
Hong, Hue-Hua;
Wang, Yu;
Masinde, Tiwanda;
Nolan, Michael;
Hooth, Michelle J.;
Lea, Isabel A.;
Vasconcelos, Daphne;
Sills, Robert C.;
Hoenerhoff, Mark J.

Publication type:

Article

Target-Site Point Mutation Conferring Resistance to Trifluralin in Rigid Ryegrass (Lolium rigidum).

Published in:

Weed Science, 2018, v. 66, n. 2, p. 246, doi. 10.1017/wsc.2017.67

By:

Fleet, Benjamin;
Malone, Jenna;
Preston, Christopher;
Gill, Gurjeet

Publication type:

Article

Cross-Resistance of Eclipta (Eclipta prostrata) in China to ALS Inhibitors Due to a Pro-197-Ser Point Mutation.

Published in:

Weed Science, 2017, v. 65, n. 5, p. 547, doi. 10.1017/wsc.2017.16

By:

Li, Dan;
Li, Xiangju;
Yu, Huilin;
Wang, Jingjing;
Cui, Hailan

Publication type:

Article

NewProt - a protein engineering portal.

Published in:

PEDS: Protein Engineering, Design & Selection, 2017, v. 30, n. 6, p. 441, doi. 10.1093/protein/gzx024

By:

Schwarte, Andreas;
Genz, Maika;
Skalden, Lilly;
Nobili, Alberto;
Vickers, Clare;
Melse, Okke;
Kuipers, Remko;
Joosten, Henk-Jan;
Stourac, Jan;
Bendl, Jaroslav;
Black, Jon;
Haase, Peter;
Baakman, Coos;
Damborsky, Jiri;
Bornscheuer, Uwe;
Vriend, Gert;
Venselaar, Hanka

Publication type:

Article