Works matching Point mutation (Biology)

Results: 575

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

Artificial base mismatches-mediated PCR (ABM-PCR) for detecting clinically relevant single-base mutations.

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 7, p. 1301, doi. 10.1515/cclm-2024-0962

By:

Lau, Cia-Hin;
Guo, Kejiang;
Chen, Gang;
Zou, Minghai;
Zhou, Zhongqi;
Wang, Tao;
Huang, Zhihao;
Li, Jiaqi;
Dong, Wenjiao;
Huang, Yumei;
Lo, Pik Kwan;
Xue, Hongman;
Huang, Xiaojun;
Xu, Meijing;
Tin, Chung;
Zhu, Haibao

Publication type:

Article

CtIP tetramer assembly is required for DNA-end resection and repair.

Published in:

Nature Structural & Molecular Biology, 2015, v. 22, n. 2, p. 150, doi. 10.1038/nsmb.2937

By:

Davies, Owen R;
Forment, Josep V;
Sun, Meidai;
Belotserkovskaya, Rimma;
Coates, Julia;
Galanty, Yaron;
Demir, Mukerrem;
Morton, Christopher R;
Rzechorzek, Neil J;
Jackson, Stephen P;
Pellegrini, Luca

Publication type:

Article

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 12, p. 1443, doi. 10.1038/nsmb.2698

By:

Lukavsky, Peter J;
Daujotyte, Dalia;
Tollervey, James R;
Ule, Jernej;
Stuani, Cristiana;
Buratti, Emanuele;
Baralle, Francisco E;
Damberger, Fred F;
Allain, Frédéric H-T

Publication type:

Article

Rationally Designed α-Helical Broad-Spectrum Antimicrobial Peptides with Idealized Facial Amphiphilicity.

Published in:

Macromolecular Rapid Communications, 2013, v. 34, n. 1, p. 74, doi. 10.1002/marc.201200534

By:

Khan, Majad;
Ong, Zhan-Yuin;
Wiradharma, Nikken;
Sng, Melvin Y. S.;
Yang, Yi-Yan

Publication type:

Article

A Designed Conformational Shift To Control Protein Binding Specificity.

Published in:

Angewandte Chemie, 2014, v. 126, n. 39, p. 10535, doi. 10.1002/ange.201403102

By:

Michielssens, Servaas;
Peters, Jan Henning;
Ban, David;
Pratihar, Supriya;
Seeliger, Daniel;
Sharma, Monika;
Giller, Karin;
Sabo, Thomas Michael;
Becker, Stefan;
Lee, Donghan;
Griesinger, Christian;
de Groot, Bert L.

Publication type:

Article

A comparative study of three signaling forms of the orange carotenoid protein.

Published in:

Photosynthesis Research, 2016, v. 130, n. 1-3, p. 389, doi. 10.1007/s11120-016-0272-8

By:

Maksimov, E.;
Moldenhauer, M.;
Shirshin, E.;
Parshina, E.;
Sluchanko, N.;
Klementiev, K.;
Tsoraev, G.;
Tavraz, N.;
Willoweit, M.;
Schmitt, F.-J.;
Breitenbach, J.;
Sandmann, G.;
Paschenko, V.;
Friedrich, T.;
Rubin, A.

Publication type:

Article

Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Published in:

Chromosome Research, 2013, v. 21, n. 8, p. 781, doi. 10.1007/s10577-013-9386-4

By:

Smyk, Marta;
Szafranski, Przemyslaw;
Startek, Michał;
Gambin, Anna;
Stankiewicz, Paweł

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

Protein homeostasis disorders of key enzymes of amino acids metabolism: mutation-induced protein kinetic destabilization and new therapeutic strategies.

Published in:

Amino Acids, 2013, v. 45, n. 6, p. 1331, doi. 10.1007/s00726-013-1609-7

By:

Pey, Angel L.

Publication type:

Article

In silico investigation of molecular mechanism of laminopathy caused by a point mutation (R482W) in lamin A/C protein.

Published in:

Amino Acids, 2012, v. 43, n. 2, p. 603, doi. 10.1007/s00726-011-1108-7

By:

Rajendran, Vidya;
Purohit, Rituraj;
Sethumadhavan, Rao

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

Synergistic stabilization of a double mutant in chymotrypsin inhibitor 2 from a library screen in E. coli.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02490-7

By:

Hamborg, Louise;
Granata, Daniele;
Olsen, Johan G.;
Roche, Jennifer Virginia;
Pedersen, Lasse Ebdrup;
Nielsen, Alex Toftgaard;
Lindorff-Larsen, Kresten;
Teilum, Kaare

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

Obsessive–compulsive disorder, which genes? Which functions? Which pathways? An integrated holistic view regarding OCD and its complex genetic etiology.

Published in:

Journal of Neurogenetics, 2017, v. 31, n. 3, p. 153, doi. 10.1080/01677063.2017.1336236

By:

Bozorgmehr, Ali;
Ghadirivasfi, Mohammad;
Shahsavand Ananloo, Esmaeil

Publication type:

Article

Colorectal cancer in cases of multiple primary cancers: Clinical features of 59 cases and point mutation analyses.

Published in:

Oncology Letters, 2017, v. 13, n. 6, p. 4720, doi. 10.3892/ol.2017.6097

By:

ANSHAN WU;
SIQI HE;
JINGJING LI;
LING LIU;
CHUNLAN LIU;
QI WANG;
XIAOWEI PENG;
JIANDA ZHOU;
PEI-GUO CAO;
KE CAO

Publication type:

Article

Associations between sequence variations in the mitochondrial DNA D-loop region and outcome of hepatocellular carcinoma.

Published in:

Oncology Letters, 2016, v. 11, n. 6, p. 3723, doi. 10.3892/ol.2016.4466

By:

SHILAI LI;
PEIQI WAN;
TAO PENG;
KAIYIN XIAO;
MING SU;
LIMING SHANG;
BANGHAO XU;
ZHIXIONG SU;
XINPING YE;
NING PENG;
QUANLIN QIN;
LEQUN LI

Publication type:

Article

Increased BRAF copy number in lung adenocarcinoma.

Published in:

Oncology Letters, 2015, v. 9, n. 2, p. 709, doi. 10.3892/ol.2014.2719

By:

HIDEFUMI SASAKI;
MASAHIKO MAEKAWA;
TSUTOMU TATEMATSU;
KATSUHIRO OKUDA;
SATORU MORIYAMA;
MOTOKI YANO;
YOSHITAKA FUJII

Publication type:

Article

Mutation analysis of key genes in RAS/RAF and PI3K/PTEN pathways in Chinese patients with hepatocellular carcinoma.

Published in:

Oncology Letters, 2014, v. 8, n. 3, p. 1249, doi. 10.3892/ol.2014.2253

By:

WENMIN HOU;
JIBIN LIU;
PEIZHAN CHEN;
HUI WANG;
BANG-CE YE;
FULIN QIANG

Publication type:

Article

HBV X gene point mutations are associated with the risk of hepatocellular carcinoma: A systematic review and meta-analysis.

Published in:

Molecular & Clinical Oncology, 2016, v. 4, n. 6, p. 1045, doi. 10.3892/mco.2016.847

By:

YULAN WANG;
LI ZENG;
WEIQING CHEN

Publication type:

Article

Comorbidities in aging patients with sickle cell disease.

Published in:

Clinical Hemorheology & Microcirculation, 2018, v. 68, n. 2-3, p. 129, doi. 10.3233/CH-189003

By:

Ballas, Samir K.;
Connes

Publication type:

Article

Early lethality and neuronal proteinopathy in mice expressing cytoplasm-targeted FUS that lacks the RNA recognition motif.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015, v. 16, n. 5/6, p. 402, doi. 10.3109/21678421.2015.1040994

By:

Robinson, Hannah K.;
Deykin, Alexey V.;
Bronovitsky, Evgeny V.;
Ovchinnikov, Ruslan K.;
Ustyugov, Alexey A.;
Shelkovnikova, Tatyana A.;
Kukharsky, Michail S.;
Ermolkevich, Tatyana G.;
Goldman, Igor L.;
Sadchikova, Elena R.;
Kovrazhkina, Elena A.;
Bachurin, Sergey O.;
Buchman, Vladimir L.;
Ninkina, Natalia N.

Publication type:

Article

Dual binding in cohesin-dockerin complexes: the energy landscape and the role of short, terminal segments of the dockerin module.

Published in:

Scientific Reports, 2018, p. 1, doi. 10.1038/s41598-018-23380-9

By:

Wojciechowski, Michał;
Różycki, Bartosz;
Pham Dinh Quoc Huy;
Mai Suan Li;
Bayer, Edward A.;
Cieplak, Marek

Publication type:

Article

Molecular identification, antifungal resistance and virulence of Cryptococcus neoformans and Cryptococcus deneoformans isolated in Seville, Spain.

Published in:

Mycoses, 2017, v. 60, n. 1, p. 40, doi. 10.1111/myc.12543

By:

Gago, Sara;
Serrano, Carmen;
Alastruey‐Izquierdo, Ana;
Cuesta, Isabel;
Martín‐Mazuelos, Estrella;
Aller, Ana Isabel;
Gómez‐López, Alicia;
Mellado, Emilia

Publication type:

Article

Generating Networks of Splicing Processors.

Published in:

RAIRO - Theoretical Informatics & Applications, 2012, v. 46, n. 4, p. 547, doi. 10.1051/ita/2012016

By:

Dassow, Jürgen;
Manea, Florin;
Truthe, Bianca

Publication type:

Article

Jasmonate-responsive MYB factors spatially repress rutin biosynthesis in Fagopyrum tataricum.

Published in:

Journal of Experimental Botany, 2018, v. 69, n. 8, p. 1955, doi. 10.1093/jxb/ery032

By:

Zhang, Kaixuan;
Logacheva, Maria D;
Meng, Yu;
Hu, Jianping;
Wan, Dongpu;
Li, Long;
Janovská, Dagmar;
Wang, Zhiyong;
Georgiev, Milen I;
Yu, Zhuo

Publication type:

Article

Transcriptional and hormonal regulation of petal and stamen development by STAMENLESS, the tomato (Solanum lycopersicum L.) orthologue to the B-class APETALA3 gene.

Published in:

Journal of Experimental Botany, 2014, v. 65, p. 1

By:

Quinet, Muriel;
Bataille, Gwennaël;
Dobrev, Petre I.;
Capel, Carmen;
Gómez, Pedro;
Capel, Juan;
Lutts, Stanley;
Motyka, Václav;
Angosto, Trinidad;
Lozano, Rafael

Publication type:

Article

EFFECT OF ACID-ALCOHOL TREATMENT ON PHYSICOCHEMICAL PROPERTIES OF CARIOCA BEAN (Phaseolus vulgaris L.) STARCH.

Published in:

Carpathian Journal of Food Science & Technology, 2017, v. 9, n. 3, p. 50

By:

Travalini, Ana Paula;
Oliveira Farias, Fabiane;
Gabardo Granza, Andressa;
Miléo Figueroa, Amanda;
Wojeicchoski, José Pedro;
Schnitzler, Egon;
Demiate, Ivo Mottin

Publication type:

Article

Efficient Knock-in of a Point Mutation in Porcine Fibroblasts Using the CRISPR/Cas9-GMNN Fusion Gene.

Published in:

Genes, 2018, v. 9, n. 6, p. 296, doi. 10.3390/genes9060296

By:

Gerlach, Max;
Kraft, Theresia;
Brenner, Bernhard;
Montag, Judith;
Petersen, Björn;
Niemann, Heiner

Publication type:

Article

Genetic Mosaics and the Germ Line Lineage.

Published in:

Genes, 2015, v. 6, n. 2, p. 216, doi. 10.3390/genes6020216

By:

Samuels, Mark E.;
Friedman, Jan M.

Publication type:

Article

Exonuclease domain mutants of yeast DIS3 display genome instability.

Published in:

Nucleus (1949-1034), 2019, v. 10, n. 1, p. 21, doi. 10.1080/19491034.2019.1578600

By:

Milbury, Karissa L.;
Paul, Biplab;
Lari, Azra;
Fowler, Claire;
Montpetit, Ben;
Stirling, Peter C.

Publication type:

Article

The predictive role of pretreatment epidermal growth factor receptor T790M mutation on the progression-free survival of tyrosine-kinase inhibitor-treated non-small cell lung cancer patients: a meta-analysis.

Published in:

OncoTargets & Therapy, 2014, v. 7, p. 387, doi. 10.2147/OTT.S58870

By:

Ding Ding;
Yongfeng Yu;
Ziming Li;
Xiaomin Niu;
Shun Lu

Publication type:

Article

KRDS: a web server for evaluating drug resistance mutations in kinases by molecular docking.

Published in:

Journal of Cheminformatics, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13321-018-0274-y

By:

Lee, Aeri;
Hong, Seungpyo;
Kim, Dongsup

Publication type:

Article

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

Published in:

2017

By:

Yokoyama, Emiy;
Smith-Pellegrin, Dennise Lesley;
Sánchez, Silvia;
Molina, Bertha;
Rodríguez, Alfredo;
Juárez, Rocío;
Lieberman, Esther;
Avila, Silvia;
Castrillo, José Luis;
del Castillo, Victoria;
Frías, Sara

Publication type:

Case Study

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

Theoretical Investigation of the Enantioselective Complexations between pfDHFR and Cycloguanil Derivatives.

Published in:

Scientia Pharmaceutica, 2017, v. 85, n. 4, p. 1, doi. 10.3390/scipharm85040037

By:

Kulatee, Suriyawut;
Toochinda, Pisanu;
Suksangpanomrung, Anotai;
Lawtrakul, Luckhana

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

Identification of the novel deletion-type PML-RARA mutation associated with the retinoic acid resistance in acute promyelocytic leukemia.

Published in:

PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0204850

By:

Hattori, Hikaru;
Ishikawa, Yuichi;
Kawashima, Naomi;
Akashi, Akimi;
Yamaguchi, Yohei;
Harada, Yasuhiko;
Hirano, Daiki;
Adachi, Yoshiya;
Miyao, Kotaro;
Ushijima, Yoko;
Terakura, Seitaro;
Nishida, Tetsuya;
Matsushita, Tadashi;
Kiyoi, Hitoshi

Publication type:

Article

CD44-mediated hyaluronan binding marks proliferating hematopoietic progenitor cells and promotes bone marrow engraftment.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0196011

By:

Lee-Sayer, Sally S. M.;
Dougan, Meghan N.;
Cooper, Jesse;
Sanderson, Leslie;
Dosanjh, Manisha;
Maxwell, Christopher A.;
Johnson, Pauline

Publication type:

Article

Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193802

By:

Plagnol, Vincent;
Woodhouse, Samuel;
Howarth, Karen;
Lensing, Stefanie;
Smith, Matt;
Epstein, Michael;
Madi, Mikidache;
Smalley, Sarah;
Leroy, Catherine;
Hinton, Jonathan;
de Kievit, Frank;
Musgrave-Brown, Esther;
Herd, Colin;
Baker-Neblett, Katherine;
Brennan, Will;
Dimitrov, Peter;
Campbell, Nathan;
Morris, Clive;
Rosenfeld, Nitzan;
Clark, James

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

Genetic characterization of the acetohydroxyacid synthase ( AHAS) gene responsible for resistance to imidazolinone in chickpea ( Cicer arietinum L.).

Published in:

Theoretical & Applied Genetics, 2014, v. 127, n. 7, p. 1583, doi. 10.1007/s00122-014-2320-0

By:

Thompson, Courtney;
Tar'an, Bunyamin

Publication type:

Article

Identification and characterization of the soybean IPK1 ortholog of a low phytic acid mutant reveals an exon-excluding splice-site mutation.

Published in:

Theoretical & Applied Genetics, 2012, v. 125, n. 7, p. 1413, doi. 10.1007/s00122-012-1922-7

By:

Yuan, Feng-Jie;
Zhu, Dan-Hua;
Tan, Yuan-Yuan;
Dong, De-Kun;
Fu, Xu-Jun;
Zhu, Shen-Long;
Li, Bai-Quan;
Shu, Qing-Yao

Publication type:

Article