Works matching DE "SOMATIC mutation"

Results: 3807

Loss of the Y chromosome in coronary artery disease.

Published in:

European Heart Journal, 2025, v. 46, n. 17, p. 1617, doi. 10.1093/eurheartj/ehaf072

By:

Sano, Soichi;
Walsh, Kenneth

Publication type:

Article

Mosaic loss of Y chromosome and mortality after coronary angiography.

Published in:

European Heart Journal, 2025, v. 46, n. 17, p. 1603, doi. 10.1093/eurheartj/ehaf035

By:

Weyrich, Michael;
Zewinger, Stephen;
Sarakpi, Tamim;
Rasper, Tina;
Kleber, Marcus E;
Cremer, Sebastian;
Zanders, Lukas;
Fleck, Fenja;
Siegbahn, Agneta;
Wallentin, Lars;
Abplanalp, Wesley Tyler;
Nerbas, Linda;
Fay, Sandra;
Eberle, Aaron L;
Dimmeler, Stefanie;
März, Winfried;
Speer, Thimoteus;
Zeiher, Andreas M

Publication type:

Article

Allele frequency in thyroid cancer: mechanisms, challenges, and applications in cancer therapy.

Published in:

Thyroid Research, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13044-025-00237-8

By:

Huang, Jiayu;
Wang, Jiazhi;
Wang, Guangzhi;
Zhao, Yongfu

Publication type:

Article

Luck gone cold: A trifecta of B cell mutations associates with cryoglobulinemia.

Published in:

2025

By:

Chen, Kangzhi;
O'Connor, Kevin C.

Publication type:

Abstract

Global trends and research status in clonal hematopoiesis: a bibliometric analysis of the last 10 years.

Published in:

Discover Oncology, 2025, v. 16, n. 1, p. 1, doi. 10.1007/s12672-025-02517-z

By:

Luo, QingQing;
Yu, Li

Publication type:

Article

Author Index Volume 19 (2021).

Published in:: Journal of Bioinformatics & Computational Biology, 2021, v. 19, n. 6, p. 1, doi. 10.1142/S0219720021990018
Publication type:: Article

DNN-Boost: Somatic mutation identification of tumor-only whole-exome sequencing data using deep neural network and XGBoost.

Published in:

Journal of Bioinformatics & Computational Biology, 2021, v. 19, n. 6, p. 1, doi. 10.1142/S0219720021400175

By:

Maruf, Firda Aminy;
Pratama, Rian;
Song, Giltae

Publication type:

Article

Introduction to the Special Issue of the 18th Annual International RECOMB Satellite Workshop on Comparative Genomics.

Published in:

Journal of Bioinformatics & Computational Biology, 2021, v. 19, n. 6, p. 1, doi. 10.1142/S0219720021020030

By:

Williams, Rohan B. H.;
Zhang, Louxin

Publication type:

Article

A deep imputation and inference framework for estimating personalized and race-specific causal effects of genomic alterations on PSA.

Published in:

Journal of Bioinformatics & Computational Biology, 2021, v. 19, n. 4, p. 1, doi. 10.1142/S0219720021500165

By:

Chen, Zhong;
Cao, Bo;
Edwards, Andrea;
Deng, Hongwen;
Zhang, Kun

Publication type:

Article

Tissue-dependent somaclonal mutation frequencies and spectra enhanced by ion beam irradiation in chrysanthemum.

Published in:

Euphytica, 2015, v. 202, n. 3, p. 333, doi. 10.1007/s10681-014-1220-3

By:

Okamura, Masachika;
Hase, Yoshihiro;
Furusawa, Yoshiya;
Tanaka, Atsushi

Publication type:

Article

Limited accumulation of high-frequency somatic mutations in a 1700-year-old Osmanthus fragrans tree.

Published in:

Tree Physiology, 2022, v. 42, n. 10, p. 2040, doi. 10.1093/treephys/tpac058

By:

Duan, Yifan;
Yan, Jiping;
Zhu, Yue;
Zhang, Cheng;
Tao, Xiuhua;
Ji, Hongli;
Zhang, Min;
Wang, Xianrong;
Wang, Long

Publication type:

Article

Genomic drivers in craniopharyngiomas: Analysis of the AACR project GENIE database.

Published in:

Child's Nervous System, 2024, v. 40, n. 6, p. 1661, doi. 10.1007/s00381-024-06320-z

By:

Lehrich, M. Brandon;
Tong, C. L. Charles;
Hsu, P. K. Frank;
Kuan, C. Edward

Publication type:

Article

Progressive vascular tumor in infant: A case report and literature review of PIK3CA vascular malformation.

Published in:

2024

By:

Medina, Allison;
Zima, Laura;
Atkinson, Autumn;
Menon, Neethu M.;
Bhattacharjee, Meenakshi;
Bonfante, Eliana;
Sandberg, David I.;
Greives, Matthew R.;
Shah, Manish

Publication type:

Case Study

Angioarchitecture and genetic variants of spinal cord cavernous malformations and associated developmental venous anomalies: a case report.

Published in:

2023

By:

Ren, Jian;
Hong, Tao;
Zhang, Hongqi

Publication type:

Case Study

Hemangioblastoma and mosaic von Hippel Lindau disease: rare presentation and review of the literature.

Published in:

2023

By:

Whitman, Abbie;
Damodharan, Sudarshawn;
Bhatia, Ankush;
Puccetti, Diane;
Iskandar, Bermans

Publication type:

Case Study

De novo cerebral cavernous malformations with PIK3CA somatic mutation and EPHB4 germline mutation in a child with multiple developmental venous anomalies and cutaneous vascular malformations.

Published in:

Child's Nervous System, 2023, v. 39, n. 1, p. 265, doi. 10.1007/s00381-022-05570-z

By:

Ren, Jian;
Xiao, Xiao;
Tu, Tianqi;
Opoku, Isabella;
Zhang, Hongqi;
Zeng, Gao

Publication type:

Article

Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?

Published in:

Child's Nervous System, 2022, v. 38, n. 4, p. 705, doi. 10.1007/s00381-021-05436-w

By:

Harder, Anja

Publication type:

Article

TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma.

Published in:

Child's Nervous System, 2022, v. 38, n. 1, p. 77, doi. 10.1007/s00381-021-05399-y

By:

Sasaki, Tsuyoshi;
Uda, Takehiro;
Kuki, Ichiro;
Kunihiro, Noritsugu;
Okazaki, Shin;
Niida, Yo;
Goto, Takeo

Publication type:

Article

Evaluating H3F3A K27M and G34R/V somatic mutations in a cohort of pediatric brain tumors of different and rare histologies.

Published in:

Child's Nervous System, 2021, v. 37, n. 2, p. 375, doi. 10.1007/s00381-020-04852-8

By:

Oliveira, Vinicius Fernandes;
De Sousa, Graziella Ribeiro;
dos Santos, Antonio Carlos;
Saggioro, Fabiano Pinto;
Machado, Helio Rubens;
de Oliveira, Ricardo Santos;
Tone, Luiz Gonzaga;
Valera, Elvis Terci

Publication type:

Article

Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology.

Published in:

Child's Nervous System, 2020, v. 36, n. 5, p. 961, doi. 10.1007/s00381-020-04551-4

By:

Fohlen, Martine;
Harzallah, Ines;
Polivka, Marc;
Giuliano, Fabienne;
Pons, Linda;
Streichenberger, Nathalie;
Dorfmüller, Georg;
Touraine, Renaud

Publication type:

Article

A systematic profile of clinical inhibitors responsive to EGFR somatic amino acid mutations in lung cancer: implication for the molecular mechanism of drug resistance and sensitivity.

Published in:

Amino Acids, 2014, v. 46, n. 7, p. 1635, doi. 10.1007/s00726-014-1716-0

By:

Ai, Xinghao;
Sun, Yingjia;
Wang, Haidong;
Lu, Shun

Publication type:

Article

Low-temperature embryo incubation suppresses off-target mutagenesis during CRISPR-Cas9 genome editing in medaka (Oryzias latipes) and zebrafish (Danio rerio).

Published in:

Transgenic Research, 2025, v. 34, n. 1, p. 1, doi. 10.1007/s11248-025-00434-z

By:

Yamanaka, Takashi;
Sogo, Akiko;
Maegawa, Shingo;
Kinoshita, Masato

Publication type:

Article

Long-term (10-year) monitoring of transposon-mediated transgenic cattle.

Published in:

Transgenic Research, 2024, v. 33, n. 5, p. 503, doi. 10.1007/s11248-024-00401-0

By:

Yum, Soo-Young;
Choi, Bae Young;
Gim, Gyeong-Min;
Eom, Kyeong-Hyeon;
Lee, Seong-Beom;
Kim, Daehyun;
Lim, Euntaek;
Kim, Do-Yoon;
Heo, Seong-Eun;
Shim, Donghwan;
Jang, Goo

Publication type:

Article

Comparison of Genetic Mutations of Gastric Cancer Diagnosed before or after Helicobacter pylori Eradication and between Differentiated and Undifferentiated Types Using Next-Generation Sequencing.

Published in:

Digestive Diseases, 2025, v. 43, n. 2, p. 158, doi. 10.1159/000543645

By:

Kodama, Masaaki;
Oda, Manami;
Mizukami, Kazuhiro;
Ogawa, Ryo;
Hirashita, Yuka;
Fukuda, Masahide;
Okamoto, Kazuhisa;
Fukuda, Kensuke;
Fuchino, Takafumi;
Ozaka, Sotaro;
Okimoto, Tadayoshi;
Abe, Hisanori;
Inaba, Kazumi;
Tokoro, Masanori;
Arita, Keiko;
Nishikiori, Hidefumi;
Abe, Takashi;
Nagai, Takayuki;
Yamashita, Satoshi;
Murakami, Kazunari

Publication type:

Article

Somatic Mutations in the BRAF, KRAS, NRAS, EIF1AX, and TERT Genes: Diagnostic Value in Thyroid Neoplasms.

Published in:

Bulletin of Experimental Biology & Medicine, 2020, v. 169, n. 5, p. 669, doi. 10.1007/s10517-020-04951-1

By:

Kachko, V. A.;
Vanushko, V. E.;
Platonova, N. M.;
Abrosimov, A. Yu.;
Mel'nichenko, G. A.

Publication type:

Article

Detection of Rare Mutations by Routine Analysis of KRAS, NRAS, and BRAF Oncogenes.

Published in:

Bulletin of Experimental Biology & Medicine, 2017, v. 162, n. 3, p. 375, doi. 10.1007/s10517-017-3619-z

By:

Mikhailenko, D.;
Efremov, G.;
Safronova, N.;
Strelnikov, V.;
Alekseev, B.

Publication type:

Article

BLCA prognostic model creation and validation based on immune gene-metabolic gene combination.

Published in:

Discover Oncology, 2023, v. 14, n. 1, p. 1, doi. 10.1007/s12672-023-00853-6

By:

Yue, Shao-Yu;
Niu, Di;
Liu, Xian-Hong;
Li, Wei-Yi;
Ding, Ke;
Fang, Hong-Ye;
Wu, Xin-Dong;
Li, Chun;
Guan, Yu;
Du, He-Xi

Publication type:

Article

Somatic mutations may contribute to asymmetry in neurodegenerative disorders.

Published in:

Brain Communications, 2022, v. 4, n. 4, p. 1, doi. 10.1093/braincomms/fcac184

By:

Proukakis, Christos

Publication type:

Article

Mutation of P‐element somatic inhibitor induces male sterility in the diamondback moth, Plutella xylostella.

Published in:

Pest Management Science, 2021, v. 77, n. 7, p. 3588, doi. 10.1002/ps.6413

By:

Wang, Yaohui;
Xu, Xia;
Chen, Xi'en;
Li, Xiaowei;
Bi, Honglun;
Xu, Jun;
Zhu, Chenxu;
Niu, Changying;
Huang, Yongping

Publication type:

Article

Plant somatic mutations in nature conferring insect and herbicide resistance.

Published in:

Pest Management Science, 2019, v. 75, n. 1, p. 14, doi. 10.1002/ps.5157

By:

Simberloff, Daniel;
Leppanen, Christy

Publication type:

Article

Evolution of resistance to phytoene desaturase and protoporphyrinogen oxidase inhibitors - state of knowledge.

Published in:

Pest Management Science, 2014, v. 70, n. 9, p. 1358, doi. 10.1002/ps.3728

By:

Dayan, Franck E;
Owens, Daniel K;
Tranel, Patrick J;
Preston, Christopher;
Duke, Stephen O

Publication type:

Article

Enhancing the quality of panel-based tumor mutation burden assessment: a comprehensive study of real-world and in-silico outcomes.

Published in:

NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00504-1

By:

Zhang, Yuanfeng;
Wang, Duo;
Zhao, Zihong;
Peng, Rongxue;
Han, Yanxi;
Li, Jinming;
Zhang, Rui

Publication type:

Article

Fast, accurate, and racially unbiased pan-cancer tumor-only variant calling with tabular machine learning.

Published in:

NPJ Precision Oncology, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41698-022-00340-1

By:

McLaughlin, R. Tyler;
Asthana, Maansi;
Di Meo, Marc;
Ceccarelli, Michele;
Jacob, Howard J.;
Masica, David L.

Publication type:

Article

Favorable immune checkpoint inhibitor outcome of patients with melanoma and NSCLC harboring FAT1 mutations.

Published in:

NPJ Precision Oncology, 2022, v. 6, n. 1, p. 1, doi. 10.1038/s41698-022-00292-6

By:

Zhang, Wenjing;
Tang, Yunfeng;
Guo, Yuxian;
Kong, Yujia;
Shi, Fuyan;
Sheng, Chao;
Wang, Suzhen;
Wang, Qinghua

Publication type:

Article

Characterizing somatic mutations in ovarian cancer germline risk regions.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08072-1

By:

Lai, Ping-Hung;
Tyrer, Jonathan P.;
Pharoah, Paul;
Gayther, Simon A.;
Jones, Michelle R.;
Peng, Pei-Chen

Publication type:

Article

Next-Generation Sequencing in Sporadic Medullary Thyroid Cancer Patients: Mutation Profile and Disease Aggressiveness.

Published in:

Journal of the Endocrine Society, 2024, v. 8, n. 6, p. 1, doi. 10.1210/jendso/bvae048

By:

Shirali, Aditya S;
Hu, Mimi I;
Chiang, Yi-Ju;
Graham, Paul H;
Fisher, Sarah B;
Sosa, Julie Ann;
Perrier, Nancy;
Brown, Spandana;
Holla, Vijaykumar R;
Dadu, Ramona;
Busaidy, Naifa;
Sherman, Steven I;
Cabanillas, Maria;
Waguespack, Steven G;
Zafereo, Mark E;
Grubbs, Elizabeth G

Publication type:

Article

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 10, p. 1, doi. 10.1210/jendso/bvac127

By:

Flippo, Chelsi;
Kolli, Vipula;
Andrew, Melissa;
Berger, Seth;
Bhatti, Tricia;
Boyce, Alison M;
Casella, Daniel;
Collins, Michael T;
Délot, Emmanuèle;
Devaney, Joseph;
Hewitt, Stephen M;
Kolon, Thomas;
Mallappa, Ashwini;
White, Perrin C;
Merke, Deborah P;
Dauber, Andrew

Publication type:

Article

Effects of Wnt-β-Catenin Signaling and Sclerostin on the Phenotypes of Rat Pheochromocytoma PC12 Cells.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 10, p. 1, doi. 10.1210/jendso/bvac121

By:

Morimoto, Eisaku;
Inagaki, Kenichi;
Komatsubara, Motoshi;
Terasaka, Tomohiro;
Itoh, Yoshihiko;
Fujisawa, Satoshi;
Sasaki, Erika;
Nishiyama, Yuki;
Hara, Takayuki;
Wada, Jun

Publication type:

Article

Identification of Somatic Mutations in CLCN2 in Aldosterone-Producing Adenomas.

Published in:

Journal of the Endocrine Society, 2020, v. 4, n. 10, p. 1, doi. 10.1210/jendso/bvaa123

By:

Rege, Juilee;
Nanba, Kazutaka;
Blinder, Amy R;
Plaska, Samuel;
Udager, Aaron M;
Vats, Pankaj;
Kumar-Sinha, Chandan;
Giordano, Thomas J;
Rainey, William E;
Else, Tobias

Publication type:

Article

Rethinking the use of germline CHEK2 mutation as a marker for PARP inhibitor sensitivity.

Published in:

JNCI Cancer Spectrum, 2024, v. 8, n. 4, p. 1, doi. 10.1093/jncics/pkae045

By:

Hayman, Thomas J

Publication type:

Article

Prevalence of Estrogen Receptor Alpha (ESR1) Somatic Mutations in Breast Cancer.

Published in:

JNCI Cancer Spectrum, 2022, v. 6, n. 5, p. 1, doi. 10.1093/jncics/pkac060

By:

Kinslow, Connor J;
Tang, Ashley;
Chaudhary, Kunal R;
Cheng, Simon K

Publication type:

Article

Clonal hematopoiesis in cardiovascular aging: Insights from the verona heart study.

Published in:

GeroScience, 2025, v. 47, n. 2, p. 2149, doi. 10.1007/s11357-024-01367-x

By:

Kwiatkowska, Katarzyna Malgorzata;
Martinelli, Nicola;
Bertamini, Luca;
De Fanti, Sara;
Olivieri, Oliviero;
Sala, Claudia;
Castellani, Gastone;
Xumerle, Luciano;
Zago, Elisa;
Busti, Fabiana;
Giuliani, Cristina;
Garagnani, Paolo;
Girelli, Domenico

Publication type:

Article

Genomic instability and genetic heterogeneity in aging: insights from clonal hematopoiesis (CHIP), monoclonal gammopathy (MGUS), and monoclonal B-cell lymphocytosis (MBL).

Published in:

GeroScience, 2025, v. 47, n. 1, p. 703, doi. 10.1007/s11357-024-01374-y

By:

Kallai, Attila;
Ungvari, Zoltan;
Fekete, Mónika;
Maier, Andrea B.;
Mikala, Gabor;
Andrikovics, Hajnalka;
Lehoczki, Andrea

Publication type:

Article

Mitochondrial DNA copy number associated dementia risk by somatic mutations and frailty.

Published in:

GeroScience, 2025, v. 47, n. 1, p. 825, doi. 10.1007/s11357-024-01355-1

By:

Tian, Qu;
Zweibaum, David A.;
Qian, Yong;
Oppong, Richard F.;
Pilling, Luke C.;
Casanova, Francesco;
Atkins, Janice L.;
Melzer, David;
Ding, Jun;
Ferrucci, Luigi

Publication type:

Article

Somatic mutations in aging and disease.

Published in:

GeroScience, 2024, v. 46, n. 5, p. 5171, doi. 10.1007/s11357-024-01113-3

By:

Ren, Peijun;
Zhang, Jie;
Vijg, Jan

Publication type:

Article

Cell Tree Rings: the structure of somatic evolution as a human aging timer.

Published in:

GeroScience, 2024, v. 46, n. 3, p. 3005, doi. 10.1007/s11357-023-01053-4

By:

Csordas, Attila;
Sipos, Botond;
Kurucova, Terezia;
Volfova, Andrea;
Zamola, Frantisek;
Tichy, Boris;
Hicks, Damien G

Publication type:

Article

Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome.

Published in:

GeroScience, 2023, v. 45, n. 2, p. 1231, doi. 10.1007/s11357-022-00607-2

By:

Díez-Díez, Miriam;
Amorós-Pérez, Marta;
de la Barrera, Jorge;
Vázquez, Enrique;
Quintas, Ana;
Pascual-Figal, Domingo A.;
Dopazo, Ana;
Sánchez-Cabo, Fátima;
Kleinman, Monica E.;
Gordon, Leslie B.;
Fuster, Valentín;
Andrés, Vicente;
Fuster, José J.

Publication type:

Article

Molecular profiling of a bladder cancer with very high tumour mutational burden.

Published in:

Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-01883-x

By:

Scimeca, Manuel;
Bischof, Julia;
Bonfiglio, Rita;
Nale, Elisabetta;
Iacovelli, Valerio;
Carilli, Marco;
Vittori, Matteo;
Agostini, Massimiliano;
Rovella, Valentina;
Servadei, Francesca;
Giacobbi, Erica;
Candi, Eleonora;
Shi, Yufang;
Melino, Gerry;
Mauriello, Alessandro;
Bove, Pierluigi

Publication type:

Article

A BRCA2 germline mutation and high expression of immune checkpoints in a TNBC patient.

Published in:

Cell Death Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41420-023-01651-3

By:

Han, Yuyi;
Rovella, Valentina;
Smirnov, Artem;
Buonomo, Oreste Claudio;
Mauriello, Alessandro;
Perretta, Tommaso;
Shi, Yufang;
Woodmsith, Jonathan;
Bischof, Julia;
TOR CENTRE;
Bove, Pierluigi;
Juhl, Hartmut;
Scimeca, Manuel;
Sica, Giuseppe;
Tisone, Giuseppe;
Wang, Ying;
Giacobbi, Erica;
Materazzo, Marco;
Melino, Gerry;
Candi, Eleonora

Publication type:

Article

Activation-induced cytidine deaminase expression in patients with myelodysplastic syndrome and its relationship with prognosis and treatment.

Published in:

Turkish Journal of Medical Sciences, 2021, v. 51, n. 5, p. 2451, doi. 10.3906/sag-2101-81

By:

TORUN, Ege Sinan;
DAĞLAR ADAY, Aynur;
NALÇACI, Meliha

Publication type:

Article