Works matching DE "DNA mutational analysis"

Results: 521

喀什地区绵羊品种中多羔主效基因 FecB 的分布.

Published in:

China Herbivore Science, 2025, v. 45, n. 3, p. 97, doi. 10.3969/j.issn.2095-3887.2024.00.085

By:

贺小云;
肖国亮;
储明星

Publication type:

Article

Correction to 'EXPRESSION OF CONCERN: Combined Pharmacological, Mutational and Cell Biology Approaches Indicate That p53‐Dependent Caspase 3 Activation Triggered by Cellular Prion Is Dependent on Its Endocytosis'.

Published in:: Journal of Neurochemistry, 2025, v. 169, n. 5, p. 1, doi. 10.1111/jnc.70096
Publication type:: Article

Mutational analysis of <italic>IZUMO1R</italic> in women with fertilization failure and polyspermy after in vitro fertilization.

Published in:

Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 3, p. 539, doi. 10.1007/s10815-017-1101-5

By:

Yu, Mengru;
Zhao, Han;
Chen, Tailai;
Tian, Ye;
Li, Mei;
Wu, Keliang;
Bian, Yuehong;
Su, Shizhen;
Cao, Yongzhi;
Ning, Yunna;
Liu, Hongbin;
Chen, Zi-Jiang

Publication type:

Article

Advances in genetic modification of farm animals using zinc-finger nucleases (ZFN).

Published in:

Chromosome Research, 2015, v. 23, n. 1, p. 7, doi. 10.1007/s10577-014-9451-7

By:

Petersen, Bjoern;
Niemann, Heiner

Publication type:

Article

Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications.

Published in:

International Journal of Legal Medicine, 2015, v. 129, n. 1, p. 1, doi. 10.1007/s00414-014-0996-y

By:

Alcalde, M.;
Campuzano, O.;
Allegue, C.;
Torres, M.;
Arbelo, E.;
Partemi, S.;
Iglesias, A.;
Brugada, J.;
Oliva, A.;
Carracedo, A.;
Brugada, R.

Publication type:

Article

Primerize-2D: automated primer design for RNA multidimensional chemical mapping.

Published in:

Bioinformatics, 2017, v. 33, n. 9, p. 1405, doi. 10.1093/bioinformatics/btw814

By:

Tian, Siqi;
Das, Rhiju

Publication type:

Article

OrfM: a fast open reading frame predictor for metagenomic data.

Published in:

Bioinformatics, 2016, v. 32, n. 17, p. 2702, doi. 10.1093/bioinformatics/btw241

By:

Woodcroft, Ben J.;
Boyd, Joel A.;
Tyson, Gene W.

Publication type:

Article

EGFR Mutational analysis toward personalized treatment of cancer patients from the Gulf Region.

Published in:

Arab Gulf Journal of Scientific Research, 2019, v. 37, p. 31

By:

Marzouq, Maryam;
Quaddorah, Raed;
Bourguiba-Hachemi, Sonia;
Ashoor, Dana;
shemmeri, Amal Al;
Khalaf, Noureddine Ben;
Fathallah, M. Dahmani

Publication type:

Article

Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice.

Published in:

Human Reproduction Open, 2024, v. 2024, n. 1, p. 1, doi. 10.1093/hropen/hoae003

By:

Meng, Gui-Quan;
Wang, Yaling;
Luo, Chen;
Tan, Yu-Mei;
Li, Yong;
Tan, Chen;
Tu, Chaofeng;
Zhang, Qian-Jun;
Hu, Liang;
Zhang, Huan;
Meng, Lan-Lan;
Liu, Chun-Yu;
Deng, Leiyu;
Lu, Guang-Xiu;
Lin, Ge;
Du, Juan;
Tan, Yue-Qiu;
Sha, Yanwei;
Wang, Lingbo;
He, Wen-Bin

Publication type:

Article

How to provide a genetic counseling in a simple case of antenatal diagnosis of achondroplasia.

Published in:

Gineco.eu, 2016, v. 12, n. 2, p. 56, doi. 10.18643/gieu.2016.56

By:

Radoi, V.;
Bohiltea, R.;
Bohiltea, C.;
Carstoiu, M.;
Vladareanu, S.

Publication type:

Article

The concerted action of oncogenic driver mutations directs global translation in intestinal epithelial cells.

Published in:

Molecular & Cellular Oncology, 2021, v. 8, n. 4, p. 1, doi. 10.1080/23723556.2021.1879614

By:

Smit, Wouter;
Heijmans, Jarom

Publication type:

Article

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 333, doi. 10.1002/acn3.532

By:

Pickett, Sarah J.;
Grady, John P.;
Ng, Yi Shiau;
Gorman, Gráinne S.;
Schaefer, Andrew M.;
Wilson, Ian J.;
Cordell, Heather J.;
Turnbull, Doug M.;
Taylor, Robert W.;
McFarland, Robert

Publication type:

Article

Selected missense mutations impair frataxin processing in Friedreich ataxia.

Published in:: Annals of Clinical & Translational Neurology, 2017, v. 4, n. 10, p. 764, doi. 10.1002/acn3.490
Publication type:: Article

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 7, p. 783, doi. 10.1002/acn3.216

By:

Kergourlay, Virginie;
Blandin, Gaëlle;
Blanck, Véronique;
Lévy, Nicolas;
Bartoli, Marc;
Krahn, Martin

Publication type:

Article

Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 7, p. 785, doi. 10.1002/acn3.217

By:

Dominov, Janice A.;
Uyan, Özgün;
Sapp, Peter C.;
McKenna‐Yasek, Diane;
Nallamilli, Babi Ramesh Reddy;
Hegde, Madhuri;
Brown, Robert H.

Publication type:

Article

Positions of silent mutations in overlapping genes from different DNA strands.

Published in:

Doklady Mathematics, 2015, v. 92, n. 1, p. 460, doi. 10.1134/S1064562415040195

By:

Kozlov, N.

Publication type:

Article

Challenges in bioinformatics approaches to tumor mutation burden analysis.

Published in:

Oncology Letters, 2021, v. 22, n. 1, p. N.PAG, doi. 10.3892/ol.2021.12816

By:

Fenizia, Francesca;
Pasquale, Raffaella;
Abate, Riziero Esposito;
Lambiase, Matilde;
Roma, Cristin;
Bergantino, Francesca;
Chaudhury, Ruchi;
Hyland, Fiona;
Allen, Christopher;
Normanno, Nicola

Publication type:

Article

EGFR inhibition enhances the antitumor efficacy of a selective BRAF V600E inhibitor in thyroid cancer cell lines.

Published in:

Oncology Letters, 2018, v. 15, n. 5, p. 6763, doi. 10.3892/ol.2018.8093

By:

Jia, Yongsheng;
Zhang, Cuicui;
Hu, Chuanxiang;
Yu, Yang;
Zheng, Xiangqian;
Li, Yigong;
Gao, Ming

Publication type:

Article

EGFR-TKI resistance and MAP17 are associated with cancer stem cell like properties.

Published in:

Oncology Letters, 2018, v. 15, n. 5, p. 6655, doi. 10.3892/ol.2018.8129

By:

Shao, Yi;
Lv, Hui;
Zhong, Dian-Sheng;
Zhou, Qing-Hua

Publication type:

Article

Analysis of human MutS homolog 2 missense mutations in patients with colorectal cancer.

Published in:

Oncology Letters, 2018, v. 15, n. 5, p. 6275, doi. 10.3892/ol.2018.8161

By:

Zhang, Xiaomei;
Chen, Senqing;
Yu, Jun;
Zhang, Yuanying;
Lv, Min;
Zhu, Ming

Publication type:

Article

Loss of expression rather than cytoplasmic mislocalization of RUNX3 predicts worse outcome in non-small cell lung cancer.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 5043, doi. 10.3892/ol.2018.7993

By:

Chen, Xiaohui;
Deng, Yujie;
Shi, Yi;
Zhu, Weifeng;
Cai, Yibin;
Xu, Chunwei;
Zhu, Kunshou;
Zheng, Xiongwei;
Chen, Gang;
Xie, Qi;
Weng, Guoxing

Publication type:

Article

Monitoring colorectal cancer following surgery using plasma circulating tumor DNA.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4365, doi. 10.3892/ol.2018.7837

By:

Sun, Xiao;
Huang, Tanxiao;
Cheng, Fangsheng;
Huang, Kaibing;
Liu, Ming;
He, Wan;
Li, Mingwei;
Zhang, Xiaoni;
Xu, Mingyan;
Chen, Shifu;
Xia, Ligang

Publication type:

Article

Co-existence of isodicentric Ph chromosomes and the three-way Ph chromosome variant t(3;9;22)(p21;q34;q11) in a rare case of chronic myeloid leukemia.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4599, doi. 10.3892/ol.2018.7866

By:

Li, Qian;
Lin, Xiao-Ji;
Chen, Hui;
Gong, Jian;
Li, Zhen;
Chen, Xiang-Nan

Publication type:

Article

Identification of potential key genes and high-frequency mutant genes in prostate cancer by using RNA-Seq data.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4550, doi. 10.3892/ol.2018.7846

By:

Zhang, Ze;
Wu, He;
Zhou, Hong;
Gu, Yunhe;
Bai, Yufeng;
Yu, Shiliang;
An, Ruihua;
Qi, Jiping

Publication type:

Article

Identification of a novel HRAS variant and its association with papillary thyroid carcinoma.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4511, doi. 10.3892/ol.2018.7818

By:

Dou, Rui;
Zhang, Lili;
Lu, Tingxia;
Liu, Dong;
Mei, Fang;
Huang, Jian;
Qian, Linxue

Publication type:

Article

Targeted sequencing reveals distinct pathogenic variants in Chinese patients with lung adenocarcinoma brain metastases.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4503, doi. 10.3892/ol.2018.7859

By:

Ma, Yanchun;
Chen, Kun;
Yang, Zhenhua;
Guan, Ming

Publication type:

Article

Colon cancers carrying BRAF V600E and β-catenin T41A activating mutations are resistant to numerous common anticancer drugs.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4471, doi. 10.3892/ol.2018.7856

By:

Xu, Guangzhong;
Li, Kai;
Zhang, Nengwei;
Zhu, Bin;
Feng, Guosheng;
Fan, Qing

Publication type:

Article

Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4383, doi. 10.3892/ol.2018.7838

By:

Ruan, Weiwei;
Cao, Li;
Chen, Zhonghua;
Kong, Mingxiang;
Bi, Qing

Publication type:

Article

Diagnostic significance of CK19, galectin-3, CD56, TPO and Ki67 expression and BRAF mutation in papillary thyroid carcinoma.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4269, doi. 10.3892/ol.2018.7873

By:

Huang, Lihua;
Wang, Xuming;
Huang, Xuan;
Gui, Huawei;
Li, Yan;
Chen, Qiongxia;
Liu, Dongling;
Liu, Lijiang

Publication type:

Article

Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature.

Published in:

Oncology Letters, 2018, v. 15, n. 4, p. 4093, doi. 10.3892/ol.2018.7836

By:

Herold, Natalie;
Wappenschmidt, Barbara;
Markiefka, Birgid;
Keupp, Katharina;
Kröber, Sandra;
Hahnen, Eric;
Schmutzler, Rita;
Rhiem, Kerstin

Publication type:

Article

Promoter methylation of RB1, P15, P16, and MGMT and their impact on the clinical course of pilocytic astrocytomas.

Published in:

Oncology Letters, 2018, v. 15, n. 2, p. 1600, doi. 10.3892/ol.2017.7490

By:

Sippl, Christoph;
Urbschat, Steffi;
Kim, Yoo Jin;
Senger, Sebastian;
Oertel, Joachim;
Ketter, Ralf

Publication type:

Article

Utility of bronchial lavage fluids for epithelial growth factor receptor mutation assay in lung cancer patients: Comparison between cell pellets, cell blocks and matching tissue specimens.

Published in:

Oncology Letters, 2018, v. 15, n. 2, p. 1469, doi. 10.3892/ol.2017.7464

By:

Asaka, Shiho;
Yoshizawa, Akihiko;
Nakata, Rie;
Negishi, Tatsuya;
Yamamoto, Hiroshi;
Shiina, Takayuki;
Shigeto, Shohei;
Matsuda, Kazuyuki;
Kobayashi, Yukihiro;
Honda, Takayuki

Publication type:

Article

Role of specific DNA mutations in the peripheral blood of colorectal cancer patients for the assessment of tumor stage and residual disease following tumor resection.

Published in:

Oncology Letters, 2016, v. 12, n. 5, p. 3356, doi. 10.3892/ol.2016.5078

By:

NORCIC, GREGOR;
JELENC, FRANC;
CERKOVNIK, PETRA;
STEGEL, VIDA;
NOVAKOVIC, SRDJAN

Publication type:

Article

Determination of EGFR and KRAS mutational status in Greek non-small-cell lung cancer patients.

Published in:

Oncology Letters, 2015, v. 10, n. 4, p. 2176, doi. 10.3892/ol.2015.3600

By:

PAPADOPOULOU, EIRINI;
TSOULOS, NIKOLAOS;
TSIRIGOTI, ANGELIKI;
APESSOS, ANGELA;
AGIANNITOPOULOS, KONSTANTINOS;
METAXA-MARIATOU, VASILIKI;
ZAROGOULIDIS, KONSTANTINOS;
ZAROGOULIDIS, PAVLOS;
KASARAKIS, DIMITRIOS;
KAKOLYRIS, STYLIANOS;
DAHABREH, JUBRAIL;
VLASTOS, FOTIS;
ZOUBLIOS, CHARALAMPOS;
RAPTI, AGGELIKI;
PAPAGEORGIOU, NIKI GEORGATOU;
VELDEKIS, DIMITRIOS;
GAGA, MINA;
ARAVANTINOS, GERASIMOS;
KARAVASILIS, VASILEIOS;
KARAGIANNIDIS, NAPOLEON

Publication type:

Article

BRCA1 polymorphism in breast cancer patients from Argentina.

Published in:

Oncology Letters, 2015, v. 9, n. 2, p. 845, doi. 10.3892/ol.2014.2772

By:

JAURE, OMAR;
ALONSO, ELIANA N.;
AGUILERA BRAICO, DIEGO;
NIETO, ALVARO;
OROZCO, MANUELA;
MORELLI, CECILIA;
FERRO, ALEJANDRO M.;
BARUTTA, ELENA;
VINCENT, ESTEBAN;
MARTÍNEZ, DOMINGO;
MARTÍNEZ, IGNACIO;
MAEGLI, MARIA INES;
FRIZZA, ALEJANDRO;
KOWALYZYN, RUBEN;
SALVADORI, MARISA;
GINESTET, PAUL;
GONZALEZ DONNA, MARIA L.;
BALOGH, GABRIELA A.

Publication type:

Article

Visible Light-Responsive Platinum-Containing Titania Nanoparticle-Mediated Photocatalysis Induces Nucleotide Insertion, Deletion and Substitution Mutations.

Published in:

Nanomaterials (2079-4991), 2017, v. 7, n. 1, p. 1, doi. 10.3390/nano7010002

By:

Der-Shan Sun;
Yao-Hsuan Tseng;
Wen-Shiang Wu;
Ming-Show Wong;
Hsin-Hou Chang

Publication type:

Article

Shifting the Cancer Screening Paradigm: Developing a Multi-Biomarker Class Approach to Multi-Cancer Early Detection Testing.

Published in:

Life (2075-1729), 2024, v. 14, n. 8, p. 925, doi. 10.3390/life14080925

By:

Kisiel, John B.;
Ebbert, Jon O.;
Taylor, William R.;
Marinac, Catherine R.;
Choudhry, Omair A.;
Rego, Seema P.;
Beer, Tomasz M.;
Beidelschies, Michelle A.

Publication type:

Article

Review: Central nervous system involvement in mitochondrial disease.

Published in:

Neuropathology & Applied Neurobiology, 2017, v. 43, n. 2, p. 102, doi. 10.1111/nan.12333

By:

Lax, N. Z.;
Gorman, G. S.;
Turnbull, D. M.

Publication type:

Article

De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation.

Published in:

2018

By:

Devresse, Arnaud;
de Meyer, Martine;
Aydin, Selda;
Dahan, Karin;
Kanaan, Nada

Publication type:

Case Study

Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 7, p. 757, doi. 10.1111/ced.12889

By:

Zhang, J.;
Wang, Y.;
Cheng, R.;
Ni, C.;
Liang, J.;
Li, M.;
Yao, Z.

Publication type:

Article

Recessive dystrophic epidermolysis bullosa caused by a de novo interstitial deletion spanning COL7A1 and a hemizygous splicing mutation in trans.

Published in:

Clinical & Experimental Dermatology, 2016, v. 41, n. 4, p. 372, doi. 10.1111/ced.12809

By:

Lee, M.;
Xu, G.;
Wang, K.;
Wang, H.;
Zhang, J.;
Tang, Z.;
Lin, Z.;
Yang, Y.

Publication type:

Article

The SAMHD1-mediated block of LINE-1 retroelements is regulated by phosphorylation.

Published in:

Mobile DNA, 2018, v. 9, p. 1, doi. 10.1186/s13100-018-0116-5

By:

Herrmann, Alexandra;
Wittmann, Sabine;
Thomas, Dominique;
Shepard, Caitlin N.;
Kim, Baek;
Ferreirós, Nerea;
Gramberg, Thomas

Publication type:

Article

Brain Mitochondria, Aging, and Parkinson’s Disease.

Published in:

Genes, 2018, v. 9, n. 5, p. 250, doi. 10.3390/genes9050250

By:

Rango, Mario;
Bresolin, Nereo

Publication type:

Article

Structure-Function Mutational Analysis and Prediction of the Potential Impact of High Risk Non-Synonymous Single-Nucleotide Polymorphism on Poliovirus 2A Protease Stability Using Comprehensive Informatics Approaches.

Published in:

Genes, 2018, v. 9, n. 5, p. 228, doi. 10.3390/genes9050228

By:

Younus, Amna;
Munawar, Saba;
Bhatti, Muhammad Faraz;
Ikram, Aqsa;
Awan, Faryal Mehwish;
Jabeen, Ishrat;
Virk, Nasar;
Janjua, Hussnain Ahmed;
Arshad, Muhammad

Publication type:

Article

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

Published in:

Genes, 2017, v. 8, n. 10, p. 253, doi. 10.3390/genes8100253

By:

Gonçalves, Ana;
Oliveira, Jorge;
Coelho, Teresa;
Taipa, Ricardo;
Melo-Pires, Manuel;
Sousa, Mário;
Santos, Rosário

Publication type:

Article

Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification.

Published in:

Genes, 2015, v. 6, n. 2, p. 150, doi. 10.3390/genes6020150

By:

Thompson, Bryony A.;
Spurdle, Amanda B.

Publication type:

Article

Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita.

Published in:

Case Reports in Dermatology, 2015, v. 7, n. 2, p. 212, doi. 10.1159/000439042

By:

Panichareon, Benjaporn;
Seedapan, Thanawat;
Thongnoppakhun, Wanna;
Limwongse, Chanin;
Pithukpakorn, Manop;
Limjindaporn, Thawornchai

Publication type:

Article

Frequency and clinical relevance of EGFR mutations and EML4-ALK translocations in octogenarians with non-small cell lung cancer.

Published in:

OncoTargets & Therapy, 2017, v. 10, p. 5179, doi. 10.2147/OTT.S140472

By:

Tufman, Amanda;
Kahnert, Kathrin;
Kauffmann-Guerrero, Diego;
Milger, Katrin;
Stump, Julia;
Syunyaeva, Zulfiya;
Huber, Rudolf Maria;
Duell, Thomas;
Schneider, Christian;
Reu, Simone

Publication type:

Article

Mutation analysis and copy number alterations of KIF23 in non-small-cell lung cancer exhibiting KIF23 over-expression.

Published in:

OncoTargets & Therapy, 2017, v. 10, p. 4969, doi. 10.2147/OTT.S138420

By:

Vikberg, Ann-Louise;
Golovleva, Irina;
Vooder, Tõnu;
Lokk, Kaie;
Annilo, Tarmo

Publication type:

Article

Mutations in hepatitis B virus small S genes predict postoperative survival in hepatocellular carcinoma.

Published in:

OncoTargets & Therapy, 2016, v. 9, p. 7367, doi. 10.2147/OTT.S121785

By:

Li Peng;
Guang Yang;
Chensi Wu;
Wenshuai Wang;
Jianhua Wu;
Zhanjun Guo

Publication type:

Article