Works matching DNA mutational analysis

Results: 739

Mutational Analysis of the Mitochondrial DNA Displacement-Loop Region in Human Retinoblastoma with Patient Outcome.

Published in:

Pathology & Oncology Research, 2019, v. 25, n. 2, p. 503, doi. 10.1007/s12253-018-0391-y

By:

Singh, Lata;
Saini, Neeru;
Pushker, Neelam;
Bakhshi, Sameer;
Sen, Seema;
Nag, Tapas C.;
Kashyap, Seema

Publication type:

Article

The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome.

Published in:

Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1093353

By:

Bibi, Shaheen;
Abbas, Ghulam;
Khan, Muhammad Zahoor;
Nawaz, Tanzeela;
Ullah, Qudrat;
Uddin, Aziz;
Khan, Muhammad Fiaz;
Ghafoor, Sajid Ul;
Nadeem, Muhammad Shahid;
Tabassum, Sadia;
Zahoor, Muhammad

Publication type:

Article

Structural and mutational analysis of MazE6-operator DNA complex provide insights into autoregulation of toxin-antitoxin systems.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03933-5

By:

Kumari, Khushboo;
Sarma, Siddhartha P.

Publication type:

Article

Prospective study of the efficacy and utility of TP53 mutations in circulating tumor DNA as a non-invasive biomarker of treatment response monitoring in patients with high-grade serous ovarian carcinoma.

Published in:

Journal of Gynecologic Oncology, 2019, v. 30, n. 3, p. 1, doi. 10.3802/jgo.2019.30.e32

By:

Yong-Man Kim;
Shin-Wha Lee;
Young-Jae Lee;
Ha-Young Lee;
Jong-Eun Lee;
Eun-Kyung Choi

Publication type:

Article

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.

Published in:

American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.919463

By:

Cruz-Camino, Héctor;
Vázquez-Cantú, Mercedes;
Laura Vázquez-Cantú, Diana;
Santos-Guzmán, Jesús;
Bandala-Jacques, Antonio;
Gómez-Gutiérrez, René;
Cantú-Reyna, Consuelo

Publication type:

Article

Inspiring basic and applied research in genome integrity mechanisms: Dedication to Samuel H. Wilson.

Published in:

Environmental & Molecular Mutagenesis, 2024, v. 65, p. 4, doi. 10.1002/em.22595

By:

Yan, Shan;
Gaddameedhi, Shobhan;
Sobol, Robert W.

Publication type:

Article

Prognostic impact of genetic alterations and methylation classes in meningioma.

Published in:

Brain Pathology, 2022, v. 32, n. 2, p. 1, doi. 10.1111/bpa.12970

By:

Berghoff, Anna S.;
Hielscher, Thomas;
Ricken, Gerda;
Furtner, Julia;
Schrimpf, Daniel;
Widhalm, Georg;
Rajky, Ursula;
Marosi, Christine;
Hainfellner, Johannes A.;
von Deimling, Andreas;
Sahm, Felix;
Preusser, Matthias

Publication type:

Article

Investigation of VHL gene associated with miR-223 in clear cell renal cell carcinoma.

Published in:

Molecular Biology Reports, 2022, v. 49, n. 3, p. 2073, doi. 10.1007/s11033-021-07025-1

By:

Unal, Ufuk;
Cecener, Gulsah;
Tezcan Unlu, Havva;
Aytac Vuruskan, Berna;
Efendi Erdem, Ecem;
Egeli, Unal;
Ozturk Nazlioglu, Hulya;
Kaygisiz, Onur;
Tunca, Berrin;
Vuruskan, Hakan

Publication type:

Article

Significant impact of circulating tumour DNA mutations on survival in metastatic breast cancer patients.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86238-7

By:

Muendlein, Axel;
Geiger, Kathrin;
Gaenger, Stella;
Dechow, Tobias;
Nonnenbroich, Christoph;
Leiherer, Andreas;
Drexel, Heinz;
Gaumann, Andreas;
Jagla, Wolfgang;
Winder, Thomas;
Mayer, Frank;
Decker, Thomas

Publication type:

Article

A framework for mutational signature analysis based on DNA shape parameters.

Published in:

PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0262495

By:

Karolak, Aleksandra;
Levatić, Jurica;
Supek, Fran

Publication type:

Article

Mutational Analysis of Bile Cell‐Free DNA in Primary Sclerosing Cholangitis: A Pilot Study.

Published in:

Liver International, 2025, v. 45, n. 4, p. 1, doi. 10.1111/liv.70049

By:

Arechederra, Maria;
Bik, Emil;
Rojo, Carla;
Elurbide, Jasmin;
Elizalde, María;
Kruk, Beata;
Krasnodębski, Maciej;
Pertkiewicz, Jan;
Kozieł, Sławomir;
Grąt, Michał;
Raszeja‐Wyszomirska, Joanna;
Rullan, Maria;
Alkorta‐Aranburu, Gorka;
Oyón, Daniel;
Fernández‐Barrena, Maite G.;
Candels, Lena S.;
Białek, Andrzej;
Krupa, Łukasz;
Schneider, Kai M.;
Urman, Jesús

Publication type:

Article

Clinical features of patients with fungal infections caused by CARD9 deficiency: a literature review of case reports.

Published in:

Frontiers in Cellular & Infection Microbiology, 2025, p. 1, doi. 10.3389/fcimb.2025.1615929

By:

Tang, Congchen;
Liu, Yalan;
Long, Jiangchao;
Lv, Xiaoju

Publication type:

Article

An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland.

Published in:

Cytogenetic & Genome Research, 2018, v. 153, n. 4, p. 198, doi. 10.1159/000486774

By:

Shaffer, Lisa G.;
Ramirez, Christina J.;
Phelps, Patricia;
Aviram, Maya;
Walczak, Marta;
Bar-Gal, Gila Kahila;
Ballif, Blake C.

Publication type:

Article

Folding thermodynamics of PET-hydrolyzing enzyme Cut190 depending on Ca<sup>2+</sup> concentration.

Published in:

Journal of Thermal Analysis & Calorimetry, 2019, v. 135, n. 5, p. 2655, doi. 10.1007/s10973-018-7447-9

By:

Inaba, Satomi;
Kamiya, Narutoshi;
Bekker, Gert-Jan;
Kawai, Fusako;
Oda, Masayuki

Publication type:

Article

DNA mutational analysis of type 1 and type 3 gaucher patients: How well do mutations predict phenotype?

Published in:

Human Mutation, 1994, v. 3, n. 1, p. 25, doi. 10.1002/humu.1380030105

By:

Sidransky, Ellen;
Bottler, Anja;
Stubblefield, Barbara;
Ginns, Edward I.

Publication type:

Article

FACILITATE: A real-world, multicenter, prospective study investigating the utility of a rapid, fully automated real-time PCR assay versus local reference methods for detecting epidermal growth factor receptor variants in NSCLC.

Published in:

Pathology & Oncology Research, 2023, p. 01, doi. 10.3389/pore.2023.1610707

By:

Behnke, Anke;
Cayre, Anne;
De Maglio, Giovanna;
Giannini, Giuseppe;
Habran, Lionel;
Tarsitano, Marina;
Chetta, Massimiliano;
Cappellen, David;
Lespagnol, Alexandra;
Le Naoures, Cecile;
Massazza, Gabriella;
Destro, Annarita;
Bonzheim, Irina;
Rau, Achim;
Battmann, Achim;
Kah, Bettina;
Watkin, Emmanuel;
Hummel, Michael

Publication type:

Article

Whole-exome sequencing identifies key mutated genes in T790M wildtype/<italic>cMET</italic>-unamplified lung adenocarcinoma with acquired resistance to first-generation <italic>EGFR</italic> tyrosine kinase inhibitors.

Published in:

Journal of Cancer Research & Clinical Oncology, 2018, v. 144, n. 6, p. 1079, doi. 10.1007/s00432-018-2634-4

By:

Li, Chenguang;
Liu, Hailin;
Zhang, Bin;
Gong, Liqun;
Su, Yanjun;
Zhang, Zhenfa;
Wang, Changli

Publication type:

Article

High MLL2 expression predicts poor prognosis and promotes tumor progression by inducing EMT in esophageal squamous cell carcinoma.

Published in:

Journal of Cancer Research & Clinical Oncology, 2018, v. 144, n. 6, p. 1025, doi. 10.1007/s00432-018-2625-5

By:

Abudureheman, Abulajiang;
Ainiwaer, Julaiti;
Hou, Zhichao;
Niyaz, Madiniyat;
Turghun, Abdugheni;
Hasim, Ayshamgul;
Zhang, Haiping;
Lu, Xiaomei;
Sheyhidin, Ilyar

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

Synergistic Antitumor Effect of BKM120 with Prima-1<sup>Met</sup> Via Inhibiting PI3K/AKT/mTOR and CPSF4/hTERT Signaling and Reactivating Mutant P53.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2018, v. 45, n. 5, p. 1772, doi. 10.1159/000487786

By:

Li, Zongjuan;
Xu, Xiangdong;
Li, Yizhuo;
Zou, Kun;
Zhang, Zhuo;
Xu, Xiaoying;
Liao, Yina;
Zhao, Xinrui;
Jiang, Wei;
Yu, Wendan;
Guo, Wei;
Chen, Yiming;
Li, Yixin;
Chen, Miao;
Deng, Wu-guo;
Li, Liren;
Zou, Lijuan

Publication type:

Article

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

smCounter2: an accurate low-frequency variant caller for targeted sequencing data with unique molecular identifiers.

Published in:

Bioinformatics, 2019, v. 35, n. 8, p. 1299, doi. 10.1093/bioinformatics/bty790

By:

Xu, Chang;
Gu, Xiujing;
Padmanabhan, Raghavendra;
Wu, Zhong;
Peng, Quan;
DiCarlo, John;
Wang, Yexun

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

Blood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer.

Published in:

NPJ Precision Oncology, 2019, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41698-019-0090-5

By:

Medford, Arielle J.;
Dubash, Taronish D.;
Juric, Dejan;
Spring, Laura;
Niemierko, Andrzej;
Vidula, Neelima;
Peppercorn, Jeffrey;
Isakoff, Steven;
Reeves, Brittany A.;
LiCausi, Joseph A.;
Wesley, Benjamin;
Malvarosa, Giuliana;
Yuen, Megan;
Wittner, Ben S.;
Lawrence, Michael S.;
Iafrate, A. John;
Ellisen, Leif;
Moy, Beverly;
Toner, Mehmet;
Maheswaran, Shyamala

Publication type:

Article

DNA Mutations May Not Be the Cause of Cancer.

Published in:

Oncology & Therapy, 2017, v. 5, n. 1, p. 85, doi. 10.1007/s40487-017-0047-1

By:

Adjiri, Adouda

Publication type:

Article

Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

Published in:

2018

By:

Katki, Hormuzd A;
Greene, Mark H;
Achatz, Maria Isabel

Publication type:

journal article

Engineered XylE as a tool for mechanistic investigation and ligand discovery of the glucose transporters GLUTs.

Published in:

Cell Discovery, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41421-019-0082-1

By:

Jiang, Xin;
Wu, Jianping;
Ke, Meng;
Zhang, Shuo;
Yuan, Yafei;
Lin, Jason Ye;
Yan, Nieng

Publication type:

Article

Editorial.

Published in:

Biomedical Research Journal, 2016, v. 3, n. 1, p. 1, doi. 10.4103/2349-3666.240601

By:

Saranath, Dhananjaya;
Khanna, Aparna

Publication type:

Article

Improving the value of molecular testing: current status and opportunities in colorectal cancer precision medicine.

Published in:

Cancer Biology & Medicine, 2024, v. 21, n. 1, p. 21, doi. 10.20892/j.issn.2095-3941.2023.0293

By:

Haiyun Li;
Linwei Guo;
Chenchen Wang;
Xin Hu;
Ye Xu

Publication type:

Article

Next-generation sequencing and its clinical application.

Published in:

Cancer Biology & Medicine, 2019, v. 16, n. 1, p. 4, doi. 10.20892/j.issn.2095-3941.2018.0055

By:

Dahui Qin

Publication type:

Article

Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Published in:

Scientific Reports, 2015, p. 13115, doi. 10.1038/srep13115

By:

Guo, Jun;
Cai, Lun;
Jia, Lixin;
Li, Xiaoyan;
Xi, Xin;
Zheng, Shuai;
Liu, Xuxia;
Piao, Chunmei;
Liu, Tingting;
Sun, Zhongsheng;
Cai, Tao;
Du, Jie

Publication type:

Article

Corrigendum: Variability in mutational fitness effects prevents full lethal transitions in large quasispecies populations.

Published in:

Scientific Reports, 2015, p. 11167, doi. 10.1038/srep11167

By:

Sardanyés, Josep;
Simó, Carles;
Martínez, Regina;
Solé, Ricard V.;
Elena, Santiago F.

Publication type:

Article

Mutational Analysis of Intracellular Loops Identify Cross Talk with Nucleotide Binding Domains of Yeast ABC Transporter Cdr1p.

Published in:

Scientific Reports, 2015, p. 11211, doi. 10.1038/srep11211

By:

Shah, Abdul Haseeb;
Rawal, Manpreet Kaur;
Dhamgaye, Sanjiveeni;
Komath, Sneha Sudha;
Saxena, Ajay Kumar;
Prasad, Rajendra

Publication type:

Article

Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.

Published in:

Scientific Reports, 2015, p. 11291, doi. 10.1038/srep11291

By:

Zhang, Jia;
Tong, Hanxing;
Fu, Xi'an;
Zhang, Yong;
Liu, Jiangbo;
Cheng, Ruhong;
Liang, Jianying;
Peng, Jie;
Sun, Zhonghui;
Liu, Hong;
Zhang, Furen;
Lu, Weiqi;
Li, Ming;
Yao, Zhirong

Publication type:

Article

Structure of Slitrk2-PTPδ complex reveals mechanisms for splicing-dependent trans-synaptic adhesion.

Published in:

Scientific Reports, 2015, p. 9686, doi. 10.1038/srep09686

By:

Yamagata, Atsushi;
Sato, Yusuke;
Goto-Ito, Sakurako;
Uemura, Takeshi;
Maeda, Asami;
Shiroshima, Tomoko;
Yoshida, Tomoyuki;
Fukai, Shuya

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

A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.

Published in:

British Journal of Dermatology, 2016, v. 175, n. 4, p. 721, doi. 10.1111/bjd.14646

By:

Mayer, B.;
Silló, P.;
Mazán, M.;
Pintér, D.;
Medvecz, M.;
Has, C.;
Castiglia, D.;
Petit, F.;
Charlesworth, A.;
Hatvani, Zs.;
Pamjav, H.;
Kárpáti, S.

Publication type:

Article

The lesion, or the field, that is the question.

Published in:

British Journal of Dermatology, 2016, v. 175, n. 4, p. 668, doi. 10.1111/bjd.14733

By:

Gilaberte, Y.

Publication type:

Article

Revisiting neurocutaneous melanosis spectrum: do we have to undertake systematic magnetic resonance imaging in children with congenital melanocytic naevi?

Published in:

British Journal of Dermatology, 2015, v. 173, n. 3, p. 639, doi. 10.1111/bjd.13976

By:

Barbarot, S.

Publication type:

Article

Resolving quandaries: basaloid adenoid cystic carcinoma or breast cylindroma? The role of massively parallel sequencing.

Published in:

2016

By:

Fusco, Nicola;
Colombo, Pierre‐Emmanuel;
Martelotto, Luciano G;
De Filippo, Maria R;
Piscuoglio, Salvatore;
Ng, Charlotte K Y;
Lim, Raymond S;
Jacot, William;
Vincent‐Salomon, Anne;
Reis‐Filho, Jorge S;
Weigelt, Britta

Publication type:

Case Study

High-grade fetal adenocarcinoma of the lung is a tumour with a fetal phenotype that shows diverse differentiation, including high-grade neuroendocrine carcinoma: a clinicopathological, immunohistochemical and mutational study of 20 cases.

Published in:

Histopathology, 2015, v. 67, n. 6, p. 806, doi. 10.1111/his.12711

By:

Suzuki, Masaki;
Yazawa, Takuya;
Ota, Satoshi;
Morimoto, Junichi;
Yoshino, Ichiro;
Yamanaka, Shoji;
Inayama, Yoshiaki;
Kawabata, Yoshinori;
Shimizu, Yoshihiko;
Komatsu, Masayo;
Notohara, Kenji;
Koda, Kenji;
Nakatani, Yukio

Publication type:

Article

Epstein- Barr virus-associated lymphoepithelioma-like cholangiocarcinoma: a rare variant of intrahepatic cholangiocarcinoma with favourable outcome.

Published in:

Histopathology, 2014, v. 65, n. 5, p. 674, doi. 10.1111/his.12455

By:

Chan, Anthony W H;
Tong, Joanna H M;
Sung, Mandy Y M;
Lai, Paul B S;
To, Ka‐Fai

Publication type:

Article

Whole-genome-amplified DNA as a source for mutational analysis underestimates the frequency of mutations in pediatric acute myeloid leukemia.

Published in:

Leukemia (08876924), 2013, v. 27, n. 2, p. 510, doi. 10.1038/leu.2012.250

By:

Rosenquist, R;
Ehrencrona, H;
Hasle, H;
Palle, J;
Kanduri, M

Publication type:

Article

Somatic mutation footprinting reveals a unique tetranucleotide signature associated with intron- exon boundaries in lung cancer.

Published in:

Carcinogenesis, 2018, v. 39, n. 2, p. 225, doi. 10.1093/carcin/bgx133

By:

Wormald, Samuel;
Lerch, Anita;
Mouradov, Dmitri;
O'Connor, Liam

Publication type:

Article

DNA methylation signatures and coagulation factors in the peripheral blood leucocytes of epithelial ovarian cancer.

Published in:

Carcinogenesis, 2017, v. 38, n. 8, p. 797, doi. 10.1093/carcin/bgx057

By:

Lian Li;
Hong Zheng;
Yubei Huang;
Caiyun Huang;
Shuang Zhang;
Jing Tian;
Pei Li;
Sood, Anil K.;
Wei Zhang;
Kexin Chen

Publication type:

Article

Mutational and biochemical analysis of the DNA-entry nuclease EndA from Streptococcus pneumoniae.

Published in:

Nucleic Acids Research, 2011, v. 39, n. 2, p. 623, doi. 10.1093/nar/gkq802

By:

Midon, Marika;
Schäfer, Patrick;
Pingoud, Alfred;
Ghosh, Mahua;
Moon, Andrea F.;
Cuneo, Matthew J.;
London, Robert E.;
Meiss, Gregor

Publication type:

Article

Lifestyle - the road to Epigenetics.

Published in:

Biomirror, 2013, v. 4, n. 5, p. 32

By:

Saha, Rajarshi;
Hussain, Aabid

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

Influence of Electron-Holes on DNA Sequence-Specific Mutation Rates.

Published in:

Genome Biology & Evolution, 2018, v. 10, n. 4, p. 1039, doi. 10.1093/gbe/evy060

By:

Suárez-Villagrán, Martha Y.;
Azevedo, Ricardo B. R.;
Miller Jr, John H.

Publication type:

Article