Works matching DE "DNA mutational analysis"

Results: 524

Editorial: Recent advances in genomics and oncogenomics for personalized medicine.

Published in:

2025

By:

Koks, Sulev

Publication type:

Editorial

Ultrasensitive Detection of Mitochondrial DNA Mutation by Graphene Oxide/DNA Hydrogel Electrode.

Published in:

Advanced Functional Materials, 2014, v. 24, n. 44, p. 6905, doi. 10.1002/adfm.201402191

By:

Sun, Liping;
Hu, Nan;
Peng, Jian;
Chen, Liyu;
Weng, Jian

Publication type:

Article

DNA Mutation: Ultrasensitive Detection of Mitochondrial DNA Mutation by Graphene Oxide/DNA Hydrogel Electrode (Adv. Funct. Mater. 44/2014).

Published in:

Advanced Functional Materials, 2014, v. 24, n. 44, p. 6897, doi. 10.1002/adfm.201470285

By:

Sun, Liping;
Hu, Nan;
Peng, Jian;
Chen, Liyu;
Weng, Jian

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

Characterization and mutation analysis of a halotolerant serine protease from a new isolate of <italic>Bacillus subtilis</italic>.

Published in:

Biotechnology Letters, 2018, v. 40, n. 1, p. 189, doi. 10.1007/s10529-017-2459-2

By:

Takenaka, Shinji;
Yoshinami, Jyun;
Kuntiya, Ampin;
Techapun, Charin;
Leksawasdi, Noppol;
Seesuriyachan, Phisit;
Chaiyaso, Thanongsak;
Watanabe, Masanori;
Tanaka, Kosei;
Yoshida, Ken-ichi

Publication type:

Article

High frequency of mutant thiopurine S-methyltransferase genotypes in Mexican patients with systemic lupus erythematosus and rheumatoid arthritis.

Published in:

Clinical Rheumatology, 2018, v. 37, n. 4, p. 963, doi. 10.1007/s10067-017-3955-4

By:

Ramirez-Florencio, Mireya;
Jiménez-Morales, Silvia;
Barbosa-Cobos, Rosa Elda;
López-Cano, Daniela Josabeth;
Ramírez-Bello, Julian

Publication type:

Article

A Brazilian family with inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia linked to the <italic>VCP</italic> pGly97Glu mutation.

Published in:

Clinical Rheumatology, 2018, v. 37, n. 4, p. 1129, doi. 10.1007/s10067-017-3913-1

By:

Shinjo, Samuel Katsuyuki;
Oba-Shinjo, Sueli Mieko;
Lerario, Antonio Marcondes;
Marie, Suely Kazue Nagahashi

Publication type:

Article

Ablation of colorectal liver metastasis: Interaction of ablation margins and RAS mutation profiling on local tumour progression-free survival.

Published in:

2018

By:

Calandri, Marco;
Yamashita, Suguru;
Gazzera, Carlo;
Fonio, Paolo;
Veltri, Andrea;
Bustreo, Sara;
Sheth, Rahul A.;
Yevich, Steven M.;
Vauthey, Jean-Nicolas;
Odisio, Bruno C.

Publication type:

journal article

Creation, characterization and utilization of Cryptococcus neoformans mutants sensitive to micafungin.

Published in:

Current Genetics, 2017, v. 63, n. 6, p. 1093, doi. 10.1007/s00294-017-0713-8

By:

Toh-e, Akio;
Ohkusu, Misako;
Shimizu, Kiminori;
Yamaguchi, Masashi;
Ishiwada, Naruhiko;
Watanabe, Akira;
Kamei, Katsuhiko

Publication type:

Article

Evaluation of AgCl@SBA-15/IL nanoparticle-induced oxidative stress and DNA mutation in Escherichia coli.

Published in:

Applied Microbiology & Biotechnology, 2016, v. 100, n. 16, p. 7161, doi. 10.1007/s00253-016-7593-6

By:

Karimi, Farrokh;
Dabbagh, Somayyeh;
Alizadeh, Sina;
Rostamnia, Sadegh

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

Analysis of site-specific N-glycan remodeling in the endoplasmic reticulum and the Golgi.

Published in:

Glycobiology, 2015, v. 25, n. 12, p. 1335, doi. 10.1093/glycob/cwv058

By:

Ivan Hang;
Chia-wei Lin;
Grant, Oliver C.;
Fleurkens, Susanna;
Villiger, Thomas K.;
Soos, Miroslav;
Morbidelli, Massimo;
Woods, Robert J.;
Gauss, Robert;
Aebi, Markus

Publication type:

Article

Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02640-x

By:

Ekram, Samar N.;
Elemam, Omima;
Alandonisi, Munzir;
Flemban, Arwa;
Samkari, Jamil;
Zainuddin, Hassan H.;
Azher, Zohor;
Tashkandi, Emad;
Mufti, Ahmad;
Khogeer, Asim

Publication type:

Article

Tubular Dysfunction Mimicking Dent's Disease in 2 Infants Born with Extremely Low Birth Weight.

Published in:

Case Reports in Nephrology & Dialysis, 2017, v. 7, n. 1, p. 13, doi. 10.1159/000455828

By:

Awazu, Midori;
Arai, Mie;
Ohashi, Shoko;
Takahashi, Hirotaka;
Sekine, Takashi;
Ikeda, Kazushige

Publication type:

Article

Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients.

Published in:

Journal of Diabetes Research, 2017, p. 1, doi. 10.1155/2017/4683857

By:

Zhang, Yinan;
Du, Xiujuan;
Geng, Xinqian;
Chu, Chen;
Lu, Huijuan;
Shen, Yixie;
Chen, Ruihua;
Fang, Pingyan;
Feng, Yanmei;
Zhang, Xiaojie;
Chen, Yan;
Zhou, Yanping;
Wang, Congrong;
Jia, Weiping

Publication type:

Article

Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma.

Published in:

Genetics Research, 2020, p. 1, doi. 10.1017/S0016672320000038

By:

Laitman, Yael;
Tzur, Shay;
Attali, Ruben;
Tirosh, Amit;
Friedman, Eitan

Publication type:

Article

Conserved aspartate‐to‐glycine mutation in tyrosinase is associated with albino phenotype in domestic guinea pigs (Cavia porcellus).

Published in:

Animal Genetics, 2018, v. 49, n. 4, p. 354, doi. 10.1111/age.12683

By:

Yu, Feng;
Jiao, Shuyu;
Lai, Weining;
Liu, Zhengxi;
Zhu, Mingyuan;
Zhu, Wanju;
Bai, Chunyan;
Zhang, Yonghong;
Zhang, Jiabao;
Yan, Shouqing

Publication type:

Article

Assessment of natural variation in the first pore domain of the tomato HKT1;2 transporter and characterization of mutated versions of SlHKT1;2 expressed in Xenopus laevis oocytes and via complementation of the salt sensitive athkt1;1 mutant.

Published in:

Frontiers in Plant Science, 2014, v. 5, p. 1, doi. 10.3389/fpls.2014.00600

By:

Almeida, Pedro M. F.;
de Boer, Gert-Jan;
de Boer, Albertus H.

Publication type:

Article

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.

Published in:

Audiology Research, 2017, v. 7, n. 2, p. 56, doi. 10.4081/audiores.2017.189

By:

Soini, Heidi K.;
Karjalainen, Minna K.;
Hinttala, Reetta;
Rautio, Arja;
Hallman, Mikko;
Uusimaa, Johanna

Publication type:

Article

Bronchoscopic Re-biopsy for Mutational Analysis of Non-small Cell Lung Cancer.

Published in:

Lung (0341-2040), 2016, v. 194, n. 3, p. 371, doi. 10.1007/s00408-016-9864-5

By:

Kirita, Keisuke;
Izumo, Takehiro;
Matsumoto, Yuji;
Hiraishi, Yoshihisa;
Tsuchida, Takaaki

Publication type:

Article

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

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Published in:

Cancer Research & Treatment, 2023, v. 55, n. 2, p. 429, doi. 10.4143/crt.2022.891

By:

Moonsik Kim;
Changseon Lee;
Juyeon Hong;
Juhee Kim;
Ji Yun Jeong;
Jee-Young Park, Nora;
Ji-Eun Kim;
Ji Young Park

Publication type:

Article

TERT Promoter Mutations and Tumor Persistence/Recurrence in Papillary Thyroid Cancer.

Published in:

Cancer Research & Treatment, 2016, v. 48, n. 3, p. 942, doi. 10.4143/crt.2015.362

By:

Jae Kyung Myung;
Byung Kuk Kwak;
Jung Ah Lim;
Myung-Chul Lee;
Min Joo Kim

Publication type:

Article

Mathematical and computational analysis of CRISPR Cas9 sgRNA off-target homologies.

Published in:

International Journal of Biomathematics, 2017, v. 10, n. 6, p. -1, doi. 10.1142/S1793524517500851

By:

Zhou, Michael;
Li, Daisy;
Huan, Xiaoli;
Manthey, Joseph;
Lioutikova, Ekaterina;
Zhou, Hong

Publication type:

Article

The Peptide Network between Tetanus Toxin and Human Proteins Associated with Epilepsy.

Published in:

Epilepsy Research & Treatment, 2014, p. 1, doi. 10.1155/2014/236309

By:

Lucchese, Guglielmo;
Spinosa, Jean Pierre;
Kanduc, Darja

Publication type:

Article

Semi-random mutagenesis profile of BCR-ABL during imatinib resistance acquirement in K562 cells.

Published in:

Molecular Medicine Reports, 2017, v. 16, n. 6, p. 9409, doi. 10.3892/mmr.2017.7835

By:

YAN DONG;
XIAOTONG GAO;
YINGXIN ZHAO;
MENGYING WEI;
LINGMIN XU;
GUODONG YANG;
LI LIU

Publication type:

Article

Mutational spectrum of CENP-B box and α-satellite DNA on chromosome 21 in Down syndrome children.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 4, p. 2313, doi. 10.3892/mmr.2017.6247

By:

QIAN CHEN;
BIN TAN;
JUN-LIN HE;
XUE-QING LIU;
XUE-MEI CHEN;
RU-FEI GAO;
JING ZHU;
YING-XIONG WANG;
HONG-BO QI

Publication type:

Article

Allelic RNA Motifs in Regulating Systemic Trafficking of Potato Spindle Tuber Viroid.

Published in:

Viruses (1999-4915), 2018, v. 10, n. 4, p. 160, doi. 10.3390/v10040160

By:

Takeda, Ryuta;
Zirbel, Craig L.;
Leontis, Neocles B.;
Wang, Ying;
Ding, Biao

Publication type:

Article

Profiling lung adenocarcinoma by liquid biopsy: can one size fit all?

Published in:

Cancer Nanotechnology, 2016, v. 7, n. 1, p. 1, doi. 10.1186/s12645-016-0023-8

By:

Clifford, Harry;
Cassidy, Amy;
Vaughn, Courtney;
Tsai, Evaline;
Seres, Bianka;
Patel, Nirmesh;
O'Neill, Hannah;
Hewage, Emil;
Cassidy, John

Publication type:

Article

Histone H3.5 forms an unstable nucleosome and accumulates around transcription start sites in human testis.

Published in:

Epigenetics & Chromatin, 2016, v. 9, p. 1, doi. 10.1186/s13072-016-0051-y

By:

Takashi Urahama;
Akihito Harada;
Kazumitsu Maehara;
Naoki Horikoshi;
Koichi Sato;
Yuko Sato;
Koji Shiraishi;
Norihiro Sugino;
Akihisa Osakabe;
Hiroaki Tachiwana;
Wataru Kagawa;
Hiroshi Kimura;
Yasuyuki Ohkawa;
Hitoshi Kurumizaka

Publication type:

Article

Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00698-w

By:

Gazola, Antonia A.;
Lautert-Dutra, William;
Archangelo, Leticia Frohlich;
Reis, Rodolfo B. dos;
Squire, Jeremy A.

Publication type:

Article

Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Published in:

Journal of Hematology & Oncology, 2017, v. 10, p. 1, doi. 10.1186/s13045-017-0438-7

By:

Juskevicius, Darius;
Jucker, David;
Klingbiel, Dirk;
Mamot, Christoph;
Dirnhofer, Stephan;
Tzankov, Alexandar

Publication type:

Article

Sex, butterflies and molecular biology: when pigmentation met mimicry.

Published in:

Pigment Cell & Melanoma Research, 2014, v. 27, n. 4, p. 507, doi. 10.1111/pcmr.12260

By:

ffrench ‐ Constant, Richard H.

Publication type:

Article

Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Published in:

Pediatric Rheumatology, 2017, v. 15, p. 1, doi. 10.1186/s12969-017-0215-8

By:

Arowolo, Afolake T.;
Adeola, Henry A.;
Khumalo, Nonhlanhla P.

Publication type:

Article

James V. Neel and Yuri E. Dubrova: Cold War Debates and the Genetic Effects of Low-Dose Radiation.

Published in:

Journal of the History of Biology, 2015, v. 48, n. 1, p. 67, doi. 10.1007/s10739-014-9385-0

By:

Goldstein, Donna;
Stawkowski, Magdalena

Publication type:

Article

Mechanism of Thymopentin Alleviating Cisplatin-Induced Premature Ovarian Failure by Reducing Endoplasmic Reticulum Stress in Granulosa Cells.

Published in:

Indian Journal of Pharmaceutical Sciences, 2023, v. 85, n. 6, p. 1766, doi. 10.36468/pharmaceutical-sciences.1233

By:

SONG, J.;
LI CHEN;
WU, G.;
SHUANG LIANG;
ZHENFANG XIE

Publication type:

Article

Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes for mutations and copy number variations in solid tumours.

Published in:

British Journal of Cancer, 2014, v. 111, n. 10, p. 2014, doi. 10.1038/bjc.2014.518

By:

Singh, R R;
Patel, K P;
Routbort, M J;
Lu, X;
Manekia, J;
Abraham, R;
Reddy, N G;
Barkoh, B A;
Veliyathu, J;
Medeiros, L J;
Luthra, R;
Aldape, K

Publication type:

Article

TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations.

Published in:

British Journal of Cancer, 2014, v. 111, n. 10, p. 2024, doi. 10.1038/bjc.2014.538

By:

Labussière, M;
Gleize, V;
Giry, M;
Mangesius, S;
Bruno, A;
Mokhtari, K;
Di Stefano, A L;
Boisselier, B;
Paterra, R;
Finocchiaro, G;
Marie, Y;
Rahimian, A;
Houlston, R S;
Hoang-Xuan, K;
Idbaih, A;
Delattre, J-Y;
Sanson, M

Publication type:

Article

Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 5, p. e53, doi. 10.1111/epi.12967

By:

Trivisano, Marina;
Terracciano, Alessandra;
Milano, Teresa;
Cappelletti, Simona;
Pietrafusa, Nicola;
Bertini, Enrico Silvio;
Vigevano, Federico;
Specchio, Nicola

Publication type:

Article

The Jack Pribaz Foundation and KCNQ2.org.

Published in:

Epilepsia (Series 4), 2015, v. 56, n. 5, p. 682, doi. 10.1111/epi.12900

By:

Pribaz, Elizabeth;
Pribaz, Mike

Publication type:

Article

Genomic characterization of chronic lymphocytic leukemia (CLL) in radiation-exposed Chornobyl cleanup workers.

Published in:

2018

By:

Ojha, Juhi;
Dyagil, Iryna;
Finch, Stuart C.;
Reiss, Robert F.;
de Smith, Adam J.;
Gonseth, Semira;
Zhou, Mi;
Hansen, Helen M.;
Sherborne, Amy L.;
Nakamura, Jean;
Bracci, Paige M.;
Gudzenko, Nataliya;
Hatch, Maureen;
Babkina, Nataliya;
Little, Mark P.;
Chumak, Vadim V.;
Walsh, Kyle M.;
Bazyka, Dimitry;
Wiemels, Joseph L.;
Zablotska, Lydia B.

Publication type:

journal article

Primary failure of eruption: Clinical and genetic findings in the mixed dentition.

Published in:

Angle Orthodontist, 2018, v. 88, n. 3, p. 275, doi. 10.2319/062717-430.1

By:

Grippaudo, Cristina;
Cafiero, Concetta;
D'Apolito, Isabella;
Ricci, Beatrice;
Frazier-Bowers, Sylvia A.

Publication type:

Article

The Arabidopsis Kelch Repeat F-box E3 Ligase ARKP1 Plays a Positive Role for the Regulation of Abscisic Acid Signaling.

Published in:

Plant Molecular Biology Reporter, 2016, v. 34, n. 3, p. 582, doi. 10.1007/s11105-015-0942-2

By:

Li, Ying;
Liu, Zhibin;
Wang, Jianmei;
Li, Xufeng;
Yang, Yi

Publication type:

Article

Mutations in the TP53 gene affected recruitment of 53BP1 protein to DNA lesions, but level of 53BP1 was stable after γ-irradiation that depleted MDC1 protein in specific TP53 mutants.

Published in:

Histochemistry & Cell Biology, 2017, v. 148, n. 3, p. 239, doi. 10.1007/s00418-017-1567-3

By:

Suchánková, Jana;
Legartová, Soňa;
Ručková, Eva;
Vojtěšek, Bořivoj;
Kozubek, Stanislav;
Bártová, Eva

Publication type:

Article

Treatment strategies for inherited optic neuropathies: past, present and future.

Published in:

Eye (0950-222X), 2014, v. 28, n. 5, p. 521, doi. 10.1038/eye.2014.37

By:

Yu-Wai-Man, P;
Votruba, M;
Moore, A T;
Chinnery, P F

Publication type:

Article

MRI Features Associated with TERT Promoter Mutation Status in Glioblastoma.

Published in:

2019

By:

Ivanidze, Jana;
Lum, Mark;
Kovanlikaya, Ilhami;
Chiang, Gloria C.;
Pisapia, David;
Magge, Rajiv;
Fine, Howard A.;
Ramakrishna, Rohan

Publication type:

journal article

About molecular profile of lung cancer in Tunisian patients.

Published in:

Journal of Immunoassay & Immunochemistry, 2018, v. 39, n. 1, p. 99, doi. 10.1080/15321819.2017.1407339

By:

Mezni, Faouzi;
Mlika, Mona;
Boussen, Hamouda;
Ghedira, Habib;
Fenniche, Soraya;
Faten, Talmoudi;
Loriot, Marie-Anne

Publication type:

Article

A Course-Based Undergraduate Research Experience Investigating p300 Bromodomain Mutations.

Published in:

Biochemistry & Molecular Biology Education, 2016, v. 44, n. 1, p. 68, doi. 10.1002/bmb.20927

By:

Shanle, Erin K.;
Tsun, Ian K.;
Strahl, Brian D.

Publication type:

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