Works matching DE "DNA mutational analysis"

Results: 519

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

Clinical features and outcomes in large granular lymphocyte leukemia − associated pure red cell aplasia with STAT3 mutation.

Published in:

Annals of Hematology, 2025, v. 104, n. 4, p. 2351, doi. 10.1007/s00277-025-06371-5

By:

Liu, Xiaoqing;
Chai, Xingxing;
Yu, Qingling;
Wang, Wei;
Long, Qiqiang;
Gong, Yuemin;
Zhang, Yawen;
Qiao, Chun;
Hao, Jianping;
He, Guangsheng

Publication type:

Article

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

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

Mutational analysis of the active site residues of a d-psicose 3-epimerase from Agrobacterium tumefaciens.

Published in:

Biotechnology Letters, 2010, v. 32, n. 2, p. 261, doi. 10.1007/s10529-009-0148-5

By:

Kim, Hye-Jung;
Yeom, Soo-Jin;
Kim, Kwangsoo;
Rhee, Sangkee;
Kim, Dooil;
Oh, Deok-Kun

Publication type:

Article

Target site mutations and cytochrome P450s confer resistance to fenoxaprop‐P‐ethyl and mesosulfuron‐methyl in Alopecurus aequalis.

Published in:

Pest Management Science, 2019, v. 75, n. 1, p. 204, doi. 10.1002/ps.5089

By:

Zhao, Ning;
Yan, Yanyan;
Ge, Lu'an;
Zhu, Baolin;
Liu, Weitang;
Wang, Jinxin

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

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

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

Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2017, v. 33, n. 1, p. 58, doi. 10.1111/phpp.12283

By:

Zhang, Jia;
Cheng, Ruhong;
Yu, Xia;
Sun, Zhonghui;
Li, Ming;
Yao, Zhirong

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

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

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0235-x

By:

King, Andrew;
Troakes, Claire;
Smith, Bradley;
Nolan, Matthew;
Curran, Olimpia;
Vance, Caroline;
Shaw, Christopher E.;
Al-Sarraj, Safa

Publication type:

Article

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 2, p. 223, doi. 10.1002/mgg3.198

By:

Sjursen, Wenche;
McPhillips, Mary;
Scott, Rodney J.;
Talseth‐Palmer, Bente A.

Publication type:

Article

Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 526, doi. 10.1002/mgg3.162

By:

Fan, Zi‐chuan;
Ni, Jin‐wen;
Yang, Lin;
Hu, Li‐yuan;
Ma, Si‐min;
Mei, Mei;
Sun, Bi‐jun;
Wang, Hui‐jun;
Zhou, Wen‐hao

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

UVA, metabolism and melanoma: UVA makes melanoma hungry for metastasis.

Published in:

Experimental Dermatology, 2018, v. 27, n. 9, p. 941, doi. 10.1111/exd.13561

By:

Kamenisch, York;
Ivanova, Irina;
Drexler, Konstantin;
Berneburg, Mark

Publication type:

Article

Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2018, v. 21, n. 2, p. 134, doi. 10.5223/pghn.2018.21.2.134

By:

Ferreira, Helena;
Ramos, Raquel Nuñez;
Quan, Cinthia Flores;
Ferreiro, Susana Redecillas;
Ruiz, Vanessa Cabello;
Goñi, Javi Juampérez;
Bernabeu, Jesus Quintero;
Cantón, Oscar Segarra;
Beltran, Marina Álvarez

Publication type:

Article

Biological significance of <italic>TERT</italic> promoter mutation in papillary urothelial neoplasm of low malignant potential.

Published in:

Histopathology, 2018, v. 72, n. 5, p. 795, doi. 10.1111/his.13441

By:

Wang, Chung‐Chieh;
Huang, Chao‐Yuan;
Jhuang, Yu‐Lin;
Chen, Chih‐Chi;
Jeng, Yung‐Ming

Publication type:

Article

Concordance in BRAF V600E status over time in malignant melanoma and corresponding metastases.

Published in:

Histopathology, 2018, v. 72, n. 5, p. 814, doi. 10.1111/his.13431

By:

Nielsen, Line B.;
Dabrosin, Nina;
Sloth, Karen;
Bønnelykke–Behrndtz, Marie L.;
Steiniche, Torben;
Lade‐Keller, Johanne

Publication type:

Article

High prevalence of Mi TF staining in undifferentiated pleomorphic sarcoma: caution in the use of melanocytic markers in sarcoma.

Published in:

Histopathology, 2017, v. 70, n. 5, p. 734, doi. 10.1111/his.13139

By:

Choy, Bonnie;
Hyjek, Elizabeth;
Montag, Anthony G;
Pytel, Peter;
Haydon, Rex;
Luu, Hue H;
Zhen, Chao J;
Long, Bradley C;
Kadri, Sabah;
Segal, Jeremy P;
Furtado, Larissa V;
Cipriani, Nicole A

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

STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.01080

By:

Goel, Shubham;
Sahu, Smrity;
Minz, Ranjana W.;
Singh, Surjit;
Suri, Deepti;
Oh, Young M.;
Rawat, Amit;
Sehgal, Shobha;
Saikia, Biman

Publication type:

Article

CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and substantial Proteome Alterations in Neutrophils.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00588

By:

Serwas, Nina K.;
Huemer, Jakob;
Dieckmann, Régis;
Mejstrikova, Ester;
Garncarz, Wojciech;
Litzman, Jiri;
Hoeger, Birgit;
Zapletal, Ondrej;
Janda, Ales;
Bennett, Keiryn L.;
Kain, Renate;
Kerjaschky, Dontscho;
Boztug, Kaan

Publication type:

Article

Targeting Sphingosine Kinase Isoforms Effectively Reduces Growth and Survival of Neoplastic Mast Cells With D816V-KIT.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00631

By:

Bandara, Geethani;
Muñoz-Cano, Rosa;
Tobío, Araceli;
Yin, Yuzhi;
Komarow, Hirsh D.;
Desai, Avanti;
Metcalfe, Dean D.;
Olivera, Ana

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

H syndrome: A rare case with homozygous mutation in SLC29A3 gene.

Published in:

Indian Journal of Paediatric Dermatology, 2020, v. 21, n. 4, p. 354, doi. 10.4103/ijpd.IJPD_58_20

By:

Srinivas, Sahana;
Thimmaiah, Sowjanya;
Venkatesan, Radha;
Palany, Raghupathy

Publication type:

Article

Inherited epidermolysis bullosa: A multisystem disease of skin and mucosae fragility.

Published in:

Indian Journal of Paediatric Dermatology, 2017, v. 18, n. 4, p. 267, doi. 10.4103/ijpd.IJPD_16_17

By:

Maldonado-Colín, Guadalupe;
Hernández-Zepeda, Carolina;
Durán-McKinster, Carola;
García-Romero, María Teresa

Publication type:

Article

Variations in brain DNA.

Published in:

Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00323

By:

Avila, Jesús;
Gómez-Ramos, Alberto;
Soriano, Eduardo

Publication type:

Article

HETEROZYGOTE HEMOGLOBIN G-COUSHATTA AS THE CAUSE OF A FALSELY DECREASED HEMOGLOBIN A1C IN AN ION-EXCHANGE HPLC METHOD.

Published in:

Journal of Medical Biochemistry, 2017, v. 36, n. 3, p. 270, doi. 10.1515/jomb-2017-0016

By:

Kurtoğlu, Ayşegül Uğur;
Eren, Esin;
Aslan, Vedat;
Erkal, Özgür;
Kurtoğlu, Erdal;
Yilmaz, Necat

Publication type:

Article

Predictive cytogenetic biomarkers for colorectal neoplasia in medium risk patients.

Published in:

Journal of Medicine & Life, 2015, v. 8, n. 3, p. 398

By:

Ionescu, E. M.;
Nicolaie, T.;
Ionescu, M. A.;
Becheanu, G.;
Andrei, F.;
Diculescu, M.;
Ciocirlan, M.

Publication type:

Article

Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report.

Published in:

2018

By:

Wu, Ruo-hao;
Li, Dong-fang;
Tang, Wen-ting;
Qiu, Kun-yin;
Li, Yu;
Liao, Xiong-yu;
Tang, Dan-xia;
Qin, Li-jun;
Deng, Bing-qing;
Luo, Xiang-yang

Publication type:

journal article

The Academy of Medical Sciences, Association of Medical Research Charities, Cancer Research UK, Biotechnology and Biological Sciences Research Council, Medical Research Council, Progress Educational Trust, Wellcome Trust, Wellcome Trust Sanger Institute (UK) Genome Editing in Human Cells - Initial Joint Statement

Published in:: Jahrbuch für Wissenschaft und Ethik, 2017, v. 21, n. 1, p. 245, doi. 10.1515/jwiet-2017-0115
Publication type:: Article

Mutagenesis of seed storage protein genes in Soybean using CRISPR/Cas9.

Published in:

BMC Research Notes, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13104-019-4207-2

By:

Li, Chenlong;
Nguyen, Vi;
Liu, Jun;
Fu, Wenqun;
Chen, Chen;
Yu, Kangfu;
Cui, Yuhai

Publication type:

Article

A Novel Mutation of ALDH5A1 Gene Associated With Succinic Semialdehyde Dehydrogenase Deficiency.

Published in:

2015

By:

Lin, Chun-Yen;
Weng, Wen-Chin;
Lee, Wang-Tso

Publication type:

Case Study

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Published in:

2017

By:

Tarailo-Graovac, Maja;
Drögemöller, Britt I.;
Wasserman, Wyeth W.;
Ross, Colin J. D.;
van den Ouweland, Ans M. W.;
Darin, Niklas;
Kollberg, Gittan;
van Karnebeek, Clara D. M.;
Blomqvist, Maria

Publication type:

journal article

Mutational analysis of human glutathione transferase A2-2 identifies structural elements supporting high activity with the prodrug azathioprine.

Published in:

PEDS: Protein Engineering, Design & Selection, 2012, v. 25, n. 4, p. 189, doi. 10.1093/protein/gzs006

By:

Modén, Olof;
Wei Zhang;
Mannervik, Bengt

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

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.

Published in:

Brain Pathology, 2017, v. 27, n. 4, p. 411, doi. 10.1111/bpa.12413

By:

Johann, Pascal D.;
Hovestadt, Volker;
Thomas, Christian;
Jeibmann, Astrid;
Heß, Katharina;
Bens, Susanne;
Oyen, Florian;
Hawkins, Cynthia;
Pierson, Christopher R.;
Aldape, Kenneth;
Kim, Sang‐Pyo;
Widing, Eva;
Sumerauer, David;
Hauser, Péter;
van Landeghem, Frank;
Ryzhova, Marina;
Korshunov, Andrey;
Capper, David;
Jones, David T.W.;
Pfister, Stefan M.

Publication type:

Article

Modeling tau pathology in human stem cell derived neurons.

Published in:

Brain Pathology, 2017, v. 27, n. 4, p. 525, doi. 10.1111/bpa.12521

By:

Wray, Selina

Publication type:

Article

Modeling Parkinson's disease with induced pluripotent stem cells harboring α-synuclein mutations.

Published in:

Brain Pathology, 2017, v. 27, n. 4, p. 545, doi. 10.1111/bpa.12526

By:

Singh Dolt, Karamjit;
Hammachi, Fella;
Kunath, Tilo

Publication type:

Article

Primary thyroid B‐cell lymphoma: molecular insights into its clonal evolution and relapse.

Published in:

Journal of Pathology, 2025, v. 265, n. 2, p. 123, doi. 10.1002/path.6380

By:

Tzioni, Maria‐Myrsini;
Watanabe, Natsuko;
Chen, Zi;
Wu, Fangtian;
Madej, Ewelina;
Makker, Jasmine;
Guo, Sarah;
Attygalle, Ayoma D;
Wotherspoon, Andrew;
Sugino, Kiminori;
Ito, Koichi;
Du, Ming‐Qing

Publication type:

Article

“Bad Luck Mutations”: DNA Mutations Are not the Whole Answer to Understanding Cancer Risk.

Published in:

Dose-Response, 2017, v. 15, n. 2, p. 1, doi. 10.1177/1559325817716585

By:

Trosko, James E.;
Carruba, Giuseppe

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