Works matching Deletion mutation

Results: 5000

Combination of Hepatitis B Virus Pre-S2 Gene Deletion Mutation and Tumor-Node-Metastasis Stage Predicts Higher Hepatocellular Carcinoma Recurrence after Curative Surgical Resection.

Published in:

Biomedicines, 2023, v. 11, n. 3, p. 923, doi. 10.3390/biomedicines11030923

By:

Jeng, Long-Bin;
Li, Tsai-Chung;
Chan, Wen-Ling;
Teng, Chiao-Fang

Publication type:

Article

Identification of the novel deletion-type PML-RARA mutation associated with the retinoic acid resistance in acute promyelocytic leukemia.

Published in:

PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0204850

By:

Hattori, Hikaru;
Ishikawa, Yuichi;
Kawashima, Naomi;
Akashi, Akimi;
Yamaguchi, Yohei;
Harada, Yasuhiko;
Hirano, Daiki;
Adachi, Yoshiya;
Miyao, Kotaro;
Ushijima, Yoko;
Terakura, Seitaro;
Nishida, Tetsuya;
Matsushita, Tadashi;
Kiyoi, Hitoshi

Publication type:

Article

Complete response to afatinib in lung adenocarcinoma of epidermal growth factor receptor exon-19 deletion mutation and disease recurrence on drug discontinuation.

Published in:: Journal of Pharmacology & Pharmacotherapeutics, 2018, v. 9, n. 4, p. 191, doi. 10.4103/jpp.JPP_111_18
Publication type:: Article

De‐novo "germline second hit" loss‐of‐heterozygosity RBP3 deletion mutation causing recessive high myopia.

Published in:

Clinical Genetics, 2023, v. 104, n. 5, p. 571, doi. 10.1111/cge.14384

By:

Gombosh, Maya;
Yogev, Yuval;
Hadar, Noam;
Proskorovski‐Ohayon, Regina;
Aharoni, Sarit;
Gradstein, Libe;
Birk, Ohad S.

Publication type:

Article

Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.

Published in:

Clinical Genetics, 2013, v. 84, n. 3, p. 276, doi. 10.1111/cge.12059

By:

Xiao, J;
Nance, MA;
LeDoux, MS

Publication type:

Article

Increased plasma levels of monocyte chemoattractant protein‐1 in patients with hepatitis B virus pre‐S2 gene deletion mutation predict a higher risk of hepatocellular carcinoma recurrence after curative surgical resection.

Published in:

Cancer (0008543X), 2023, v. 129, n. 17, p. 2621, doi. 10.1002/cncr.34815

By:

Jeng, Long‐Bin;
Li, Tsai‐Chung;
Wang, John;
Teng, Chiao‐Fang

Publication type:

Article

线粒体 DNA4977bp 大片缺失突变与喉癌的相关性研究..

Published in:

Progress in Modern Biomedicine, 2020, v. 20, n. 18, p. 3430, doi. 10.13241/j.cnki.pmb.2020.18.006

By:

张姝;
孙娟;
徐凌;
王博谦;
赵斐斐;
王薇

Publication type:

Article

A novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.

Published in:

Neurology Asia, 2021, v. 26, n. 2, p. 427

By:

Orooj, Fizza;
Umm-e-Kalsoom;
XiaoChu Zhao;
Ahmad, Arsalan;
Ahmed, Imran Nazir;
Faheem, Muhammad;
Hassan, Muhammad Jawad;
Minasian, Berge A.

Publication type:

Article

Correlation Analysis Reveals an Important Role of GC Content in Accumulation of Deletion Mutations in the Coding Region of Angiosperm Plastomes.

Published in:

Journal of Molecular Evolution, 2021, v. 89, n. 1/2, p. 73, doi. 10.1007/s00239-020-09987-5

By:

Yu, Ying;
Li, Hong-Tao;
Wu, Yu-Huan;
Li, De-Zhu

Publication type:

Article

A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria.

Published in:

Journal of Genetics, 2014, v. 93, n. 2, p. 523, doi. 10.1007/s12041-014-0392-x

By:

LI, WEI-WEI;
WU, QIU-YUE;
LI, NA;
DENG, DE-QUAN;
ZHANG, RU-SONG;
CUI, YING-XIA;
LI, XIAO-JUN;
XIA, XIN-YI

Publication type:

Article

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Published in:

Diagnostic Pathology, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1746-1596-8-78

By:

Ur Rahman, Obaid;
Khawar, Nadeem;
Khan, Muhammad Aman;
Ahmed, Jawad;
Khattak, Kamran;
Al-Aama, Jumana Yousuf;
Naeem, Muhammad;
Jelani, Musharraf

Publication type:

Article

Japanese amyotrophic lateral sclerosis patient with learning disabilities with a deletion mutation in the C-terminal of the FUS/ TLS gene.

Published in:

Neurology & Clinical Neuroscience, 2015, v. 3, n. 5, p. 192, doi. 10.1111/ncn3.180

By:

Onohara, Akiko;
Koh, Kishin;
Nagasaka, Takamura;
Shindo, Kazumasa;
Kato, Masaaki;
Aoki, Masashi;
Takiyama, Yoshihisa

Publication type:

Article

The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men.

Published in:

Journal of Assisted Reproduction & Genetics, 2015, v. 32, n. 5, p. 807, doi. 10.1007/s10815-015-0443-0

By:

Khosronezhad, Nahid;
Hosseinzadeh Colagar, Abasalt;
Mortazavi, Seyed

Publication type:

Article

P-loop，Bet v 1结构域的缺失及突变对GmPR10 和 Gly m 4l 抑制大豆疫霉菌能力的影响.

Published in:

Chinese Journal of Oil Crop Sciences, 2020, v. 42, n. 5, p. 818, doi. 10.19802/j.issn.1007-9084.2019235

By:

方馨;
范素杰;
秋义明;
宋波;
刘珊珊;
吴俊江;
张淑珍;
徐鹏飞

Publication type:

Article

Structural characterization of EGFR exon 19 deletion mutation using molecular dynamics simulation.

Published in:

PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0222814

By:

Tamirat, Mahlet Z.;
Koivu, Marika;
Elenius, Klaus;
Johnson, Mark S.

Publication type:

Article

Mitochondrial DNA 4977bp Deletion Mutation in Peripheral Blood Reflects Atrial Remodeling in Patients with Non-Valvular Atrial Fibrillation.

Published in:

Yonsei Medical Journal, 2015, v. 56, n. 1, p. 53, doi. 10.3349/ymj.2015.56.1.53

By:

Jihei Sara Lee;
Young-Guk Ko;
Kyoung-Jin Shin;
Sook-Kyoung Kim;
Jae Hyung Park;
Ki-Cheol Hwang;
Hui-Nam Pak

Publication type:

Article

Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7.

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1174925

By:

Cong Zhou;
Hongmei Zhu;
Qinqin Xiang;
Jingqun Mai;
Xihan Wang;
Jing Wang;
Shanling Liu

Publication type:

Article

Evolution of the Insertion-Deletion Mutation Rate Across the Tree of Life.

Published in:

G3: Genes | Genomes | Genetics, 2016, v. 6, n. 8, p. 2583, doi. 10.1534/g3.116.030890

By:

Way Sung;
Ackerman, Matthew S.;
Dillon, Marcus M.;
Platt, Thomas G.;
Fuqua, Clay;
Cooper, Vaughn S.;
Lynch, Michael

Publication type:

Article

Skeletal muscle mitochondrial DNA copy number and mitochondrial DNA deletion mutation frequency as predictors of physical performance in older men and women.

Published in:

GeroScience, 2021, v. 43, n. 3, p. 1253, doi. 10.1007/s11357-021-00351-z

By:

Herbst, Allen;
Prior, Steven J.;
Lee, Cathy C.;
Aiken, Judd M.;
McKenzie, Debbie;
Hoang, Austin;
Liu, Nianjun;
Chen, Xiwei;
Xun, Pengcheng;
Allison, David B.;
Wanagat, Jonathan

Publication type:

Article

Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1600

By:

Zhang, Zhen;
Pan, Chaolan;
Wei, Ruoqu;
Li, Huaguo;
Yang, Yijun;
Chen, Jiawen;
Li, Ming;
Yao, Zhirong

Publication type:

Article

Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.

Published in:

Australasian Journal of Dermatology, 2016, v. 57, n. 2, p. 150, doi. 10.1111/ajd.12407

By:

Guevara, Bryan Edgar K;
Hsu, Chao‐Kai;
Liu, Lu;
Feast, Alice;
Alabado, Karen Lee P;
Lacuesta, Maricarr Pamela M;
Lee, Julia Yu‐Yun;
McGrath, John A

Publication type:

Article

Absence of NOTCH1 mutation and presence of CDKN2A deletion predict progression of esophageal lesions.

Published in:

Journal of Pathology, 2022, v. 258, n. 1, p. 38, doi. 10.1002/path.5970

By:

Liu, Mengfei;
Liu, Ying;
Zhou, Ren;
Liu, Zhen;
Guo, Chuanhai;
Xu, Ruiping;
Li, Fenglei;
Liu, Anxiang;
Yang, Haijun;
Zhang, Sanshen;
Shen, Lin;
Duan, Liping;
Wu, Qi;
Zhao, Meng;
Su, Hong;
Liu, Fangfang;
Pan, Yaqi;
Cai, Hong;
He, Zhonghu;
Ke, Yang

Publication type:

Article

Impact of gross total resection in patients with WHO grade III glioma harboring the IDH 1/2 mutation without the 1p/19q co-deletion.

Published in:

Journal of Neuro-Oncology, 2016, v. 129, n. 3, p. 505, doi. 10.1007/s11060-016-2201-2

By:

Kawaguchi, Tomohiro;
Sonoda, Yukihiko;
Shibahara, Ichiyo;
Saito, Ryuta;
Kanamori, Masayuki;
Kumabe, Toshihiro;
Tominaga, Teiji

Publication type:

Article

Two cases of in-frame deletion mutation in juxtamembrane domain of the FLT3.

Published in:

2016

By:

Shin, Sang-Yong;
Lee, Seung-Tae;
Park, Chang-Hun;
Kim, Hee-Jin;
Kim, Sun-Hee

Publication type:

Video Game Review

An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.

Published in:

Tohoku Journal of Experimental Medicine, 2022, v. 258, n. 3, p. 183, doi. 10.1620/tjem.2022.J076

By:

Yuji Matsumoto;
Yohei Ikezumi;
Tomomi Kondoh;
Katsuyuki Yokoi;
Yoko Nakajima;
Naonori Kumagai;
Takema Kato;
Hiroki Kurahashi;
Tetsuya Ito

Publication type:

Article

Resistance mechanism of the oncogenic β3‐αC deletion mutation in BRAF kinase to dabrafenib and vemurafenib revealed by molecular dynamics simulations and binding free energy calculations.

Published in:

Chemical Biology & Drug Design, 2019, v. 93, n. 2, p. 177, doi. 10.1111/cbdd.13399

By:

Niu, Yuzhen;
Zhang, Yan;
Yao, Xiaojun

Publication type:

Article

Genome-wide microhomologies enable precise template-free editing of biologically relevant deletion mutations.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-12829-8

By:

Grajcarek, Janin;
Monlong, Jean;
Nishinaka-Arai, Yoko;
Nakamura, Michiko;
Nagai, Miki;
Matsuo, Shiori;
Lougheed, David;
Sakurai, Hidetoshi;
Saito, Megumu K.;
Bourque, Guillaume;
Woltjen, Knut

Publication type:

Article

Correlation of plasma erlotinib trough concentration with skin rash in Chinese NSCLC patients harboring exon 19 deletion mutation.

Published in:

2018

By:

Xiang, Daxiong;
Liao, Dehua;
Yao, Dunwu;
Liu, Ni;
Cao, Lizhi;
Yang, Nong;
Zhang, Yongchang;
Jiang, Wenjuan;
Zhou, Chunhua

Publication type:

journal article

Detection of 15-bp Deletion Mutation within PLAG1 Gene and Its Effects on Growth Traits in Goats.

Published in:

Animals (2076-2615), 2021, v. 11, n. 7, p. 2064, doi. 10.3390/ani11072064

By:

Wei, Zhenyu;
Wang, Ke;
Wu, Hui;
Wang, Zhen;
Pan, Chuanying;
Chen, Hong;
Lan, Xianyong

Publication type:

Article

Effects of the scid mutation on X-ray-induced deletions in the brain and spleen of gpt delta mice.

Published in:

Genes & Environment, 2020, v. 42, n. 1, p. 1, doi. 10.1186/s41021-020-00158-y

By:

Masumura, Kenichi;
Yatagai, Fumio;
Ochiai, Masako;
Nakagama, Hitoshi;
Nohmi, Takehiko

Publication type:

Article

Concomitant 1p36 deletion and TNFRSF14 mutations in primary cutaneous follicle center lymphoma frequently expressing high levels of EZH2 protein.

Published in:

2018

By:

Gángó, Ambrus;
Bátai, Bence;
Varga, Martin;
Kapczár, Dóra;
Papp, Gergő;
Marschalkó, Márta;
Kuroli, Enikő;
Schneider, Tamás;
Csomor, Judit;
Matolcsy, András;
Bödör, Csaba;
Szepesi, Ágota

Publication type:

journal article

Ganciclovir‐resistant post‐transplant cytomegalovirus infection due to combined deletion mutation at codons 595‐596 of the UL97 gene.

Published in:

Transplant Infectious Disease, 2019, v. 21, n. 6, p. N.PAG, doi. 10.1111/tid.13168

By:

Leung, Po Yee Mia;
Tran, Thomas;
Testro, Adam;
Paizis, Kathy;
Kwong, Jason;
Whitlam, John B.

Publication type:

Article

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 569, doi. 10.1038/jhg.2014.74

By:

Wang, Ying;
Koh, Kishin;
Miwa, Michiaki;
Yamashiro, Nobuo;
Shindo, Kazumasa;
Takiyama, Yoshihisa

Publication type:

Article

Remdesivir does not affect mitochondrial DNA copy number or deletion mutation frequency in aged male rats: A short report.

Published in:

PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0271850

By:

Herbst, Allen;
Choi, Solbie;
Hoang, Austin N.;
Kim, Chiye;
Martinez Moreno, Diana;
McKenzie, Debbie;
Aiken, Judd M.;
Wanagat, Jonathan

Publication type:

Article

The Effect of Mitochondrial DNA Half-Life on Deletion Mutation Proliferation in Long Lived Cells.

Published in:

Acta Biotheoretica, 2021, v. 69, n. 4, p. 671, doi. 10.1007/s10441-021-09417-z

By:

Holt, Alan G.;
Davies, Adrian M.

Publication type:

Article

Combination of preS Deletions and A1762T/G1764A Mutations in HBV Subgenotype C2 Increases the Risk of Developing HCC.

Published in:

Intervirology, 2012, v. 55, n. 4, p. 296, doi. 10.1159/000329941

By:

Lee, Myoung Ha;
Kim, Do Young;
Kim, Ja Kyung;
Chang, Hye Young;
Kang, Se Hun;
Ryu, Han Jak;
Ju, Hye-Lim;
Kim, Seung Up;
Lee, Jung Min;
Park, Jun Yong;
Han, Kwang-Hyub;
Chon, Chae Yoon;
Ahn, Sang Hoon

Publication type:

Article

Prognostic significance of KIT exon 11 deletion mutation in intermediate-risk gastrointestinal stromal tumor.

Published in:

Asia Pacific Journal of Clinical Oncology, 2017, v. 13, n. 3, p. 115, doi. 10.1111/ajco.12603

By:

Quek, Richard;
Farid, Mohamad;
Kanjanapan, Yada;
Lim, Cindy;
Tan, Iain Beehuat;
Kesavan, Sittampalam;
Lim, Tony Kiat Hon;
Oon, Lynette Lin‐Ean;
Goh, Brian KP;
Chan, Weng Hoong;
Teo, Melissa;
Chung, Alexander YF;
Ong, Hock Soo;
Wong, Wai Keong;
Tan, Patrick;
Yip, Desmond

Publication type:

Article

Evolution recovers the fitness of Acinetobacter baylyi strains with large deletions through mutations in deletion-specific targets and global post-transcriptional regulators.

Published in:

PLoS Genetics, 2024, v. 20, n. 9, p. 1, doi. 10.1371/journal.pgen.1011306

By:

Gifford, Isaac;
Suárez, Gabriel A.;
Barrick, Jeffrey E.

Publication type:

Article

Evaluation of the role of EGFR exon 19 747–750 deletion mutation and plasma amino acid profile in the development of lung cancer.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09941-4

By:

Saleem, Tahia H.;
Elkhayat, Hussein;
Farouk, Ahmed;
Gabra, Fify Alfy;
Omar, Esraa A.;
Kamel, Amira A.

Publication type:

Article

Editorial: HBeAg‐Positive Chronic Hepatitis B With Low HBsAg Levels—Exploring Clinical Significance of preS2 Deletion Mutations. Authors' Reply.

Published in:

2025

By:

Chen, Yuxin;
Huang, Rui;
Wu, Chao;
Liu, Yong

Publication type:

Editorial

Functional Characterization of a Novel <i>KCNJ11</i> in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K<sub>ATP</sub> Gain of Channel Activity and Loss of Channel Expression

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063758

By:

Lin, Yu-Wen;
Li, Anlong;
Grasso, Valeria;
Battaglia, Domenica;
Crinò, Antonino;
Colombo, Carlo;
Barbetti, Fabrizio;
Nichols, Colin G.

Publication type:

Article

Mitochondrial Biogenesis Drives a Vicious Cycle of Metabolic Insufficiency and Mitochondrial DNA Deletion Mutation Accumulation in Aged Rat Skeletal Muscle Fibers.

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059006

By:

Herbst, Allen;
Johnson, Chad J.;
Hynes, Kayla;
McKenzie, Debbie;
Aiken, Judd M.

Publication type:

Article

Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of TERT Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer.

Published in:

Diagnostics (2075-4418), 2021, v. 11, n. 1, p. 4, doi. 10.3390/diagnostics11010004

By:

Han, Jiheun;
Oh, Young Lyun;
Kim, Jung-Sun

Publication type:

Article

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT-2 gene deletion mutation.

Published in:

Molecular Medicine Reports, 2022, v. 25, n. 4, p. N.PAG, doi. 10.3892/mmr.2022.12657

By:

Wang, Wentao;
Yang, Mingyuan;
Shen, Yuhang;
Chen, Kai;
Wu, Donghua;
Yang, Changwei;
Bai, Jinyi;
He, Dawei;
Gao, Jun

Publication type:

Article

LMP1-EBV Gene Deletion Mutations and HLA Genotypes of Nasopharyngeal Cancer Patients in Vietnam.

Published in:

Pathophysiology, 2023, v. 30, n. 1, p. 1, doi. 10.3390/pathophysiology30010001

By:

Trinh, Cua Thi Hong;
Tran, Dung Ngoc;
Nguyen, Linh Thi Thao;
Tran, Nghia Tin;
Nguyen, Minh Trinh Gia;
Nguyen, Vy Tran Phuong;
Vu, Nhung Thi Hong;
Dang, Khanh Duy;
Van Vo, Kha;
Chau, Hoa Chieu;
Phan, Phi Thi Phi;
Truc Phuong, Mai Huynh

Publication type:

Article

Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3.

Published in:

Modern Rheumatology, 2021, v. 31, n. 2, p. 473, doi. 10.1080/14397595.2020.1719595

By:

Maho Shimizu;
Tadashi Matsubayashi;
Hidenori Ohnishi;
Mina Nakama;
Kazushi Izawa;
Yoshitaka Honda;
Ryuta Nishikomori

Publication type:

Article

Peptide nucleic acid clamp polymerase chain reaction reveals a deletion mutation of the BRAF gene in papillary thyroid carcinoma: A case report.

Published in:

2013

By:

YONG-WHA LEE

Publication type:

Case Study

Piebaldism resulting from a novel deletion mutation of KIT gene in a five‐generation Chinese family.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 1, p. 232, doi. 10.1111/ced.14834

By:

Chen, Y. J.;
Diao, P.;
Wan, R. Y.;
Li, L.

Publication type:

Article

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.

Published in:

Eye (0950-222X), 2014, v. 28, n. 11, p. 1394, doi. 10.1038/eye.2014.238

By:

Huang, Y;
Mei, L;
Gui, B;
Su, W;
Liang, D;
Wu, L;
Pan, Q

Publication type:

Article

Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 5, p. 1, doi. 10.1002/mgg3.2144

By:

Fei, Yangfan;
Liu, Lv;
Wu, Lixia;
Wang, Ou;
Xing, Xiaoping;
Li, Aiping;
Huang, Lingyi

Publication type:

Article