Works matching Mutation

Results: 5000

FOLLICULAR CYST ASSOCIATED WITH A DE NOVO EDA MUTATION: A CASE REPORT.

Published in:

International Arab Journal of Dentistry, 2021, v. 12, n. 2, p. 108

By:

Khalil, Rami Abou;
Yammine, Tony;
Mokbel, Nadim;
Farra, Chantal;
Chakar, Carole

Publication type:

Article

Mutations du gène ESR1 : du fondamental à la clinique.

Published in:

Oncologie (Tech Science Press), 2019, v. 21, n. 1-4, p. 29, doi. 10.3166/onco-2019-0027

By:

Massard, V.;
Harlé, A.;
Uwer, L.;
Merlin, J.-L.

Publication type:

Article

Des mutations de KRAS aux mutations de RAS : vers une meilleure définition de la réponse aux anticorps anti-EGFR dans le cancer colorectal métastatique.

Published in:

Oncologie (Tech Science Press), 2014, v. 16, n. 2/3, p. 120, doi. 10.1007/s10269-014-2376-4

By:

Lièvre, A.

Publication type:

Article

A case of CD5-positive hairy cell leukemia with BRAF V600E mutation and lymph node involvement; Unique case report and review of the literature.

Published in:

Canadian Journal of Pathology, 2022, v. 14, n. 1, p. 44

By:

Javidiparsijani, Sara;
Xiaomin Zheng;
Arbini, Arnaldo A.

Publication type:

Article

ERG11 mutations and upregulation in clinical itraconazole-resistant isolates of Candida krusei.

Published in:

Canadian Journal of Microbiology, 2016, v. 62, n. 11, p. 938, doi. 10.1139/cjm-2016-0055

By:

Feng, Wenli;
Yang, Jing;
Wang, Yiru;
Chen, Jinyu;
Xi, Zhiqin;
Qiao, Zusha

Publication type:

Article

Muskeldystrophie infolge Anoctamin-5-Mutationen.

Published in:

Der Nervenarzt, 2011, v. 82, n. 12, p. 1596, doi. 10.1007/s00115-011-3325-4

By:

Deschauer, M.;
Joshi, P.R.;
Gläser, D.;
Hanisch, F.;
Stoltenburg, G.;
Zierz, S.

Publication type:

Article

The hooded mutant of Lathyrus odoratus (Fabaceae) is associated with a cycloidea gene mutation.

Published in:

Botany, 2018, v. 96, n. 1, p. 47, doi. 10.1139/cjb-2017-0097

By:

Woollacott, Christine;
Cronk, Quentin C.B.

Publication type:

Article

Do cardiac actin mutations lead to altered actomyosin interactions?

Published in:

Biochemistry & Cell Biology, 2015, v. 93, n. 4, p. 330, doi. 10.1139/bcb-2014-0156

By:

Dahari, Marissa;
Dawson, John F.

Publication type:

Article

Characterization of human mutations in phosphorylatable amino acids of the cytosolic regulatory tail of SLC9A1<sup>1</sup>.

Published in:

Biochemistry & Cell Biology, 2014, v. 92, n. 6, p. 524, doi. 10.1139/bcb-2014-0071

By:

Alves, Claudia;
Ma, Yike;
Li, Xiuju;
Fliegel, Larry

Publication type:

Article

Mechanism of a novel missense mutation, p.V174M, of the human connexin31 ( GJB3) in causing nonsyndromic hearing loss.

Published in:

Biochemistry & Cell Biology, 2014, v. 92, n. 4, p. 251, doi. 10.1139/bcb-2013-0126

By:

Li, Tung-Cheng;
Kuan, Yu-Hsiang;
Ko, Tzu-Yu;
Li, Chuan;
Yang, Jiann-Jou

Publication type:

Article

Clonal hematopoiesis as a paradigm for age-associated somatic mutations and their impact on organ function and cancer risk.

Published in:

Canadian Journal of Pathology, 2022, v. 14, n. 3, p. 8

By:

Lopes, Olivia M.;
Rauh, Michael J.

Publication type:

Article

Identification of the genomic mutation in Epha4<sup> rb-2J/rb-2J</sup> mice.

Published in:

Genome, 2016, v. 59, n. 7, p. 439, doi. 10.1139/gen-2015-0142

By:

Mohd-Zin, Siti W.;
Abdullah, Nor-Linda;
Abdullah, Aminah;
Greene, Nicholas D.E.;
Cheah, Pike-See;
Ling, King-Hwa;
Yusof, Hadri;
Marwan, Ahmed I.;
Williams, Sarah M.;
York, Kerri T.;
Ahmad-Annuar, Azlina;
Abdul-Aziz, Noraishah M.;
Cristescu, M.E.

Publication type:

Article

A genetic linkage map of Pleurotus pulmonarius based on AFLP markers, and localization of the gene region for the sporeless mutation.

Published in:

Genome, 2009, v. 52, n. 5, p. 438, doi. 10.1139/G09-021

By:

Okuda, Yasuhito;
Murakami, Shigeyuki;
Matsumoto, Teruyuki

Publication type:

Article

Somatic chimerism, genetic inheritance, and mapping of the fleshless berry (flb) mutation in grapevine (Vitis vinifera L.).

Published in:

Genome, 2006, v. 49, n. 7, p. 721, doi. 10.1139/G06-034

By:

Fernandez, L.;
Doligez, A.;
Lopez, G.;
Thomas, M. R.;
Bouquet, A.;
Torregrosa, L.

Publication type:

Article

Map positions of third chromosomal female sterile and lethal mutations of Drosophila melanogaster.

Published in:

Genome, 2004, v. 47, n. 5, p. 832, doi. 10.1139/G04-052

By:

Schuetze, Christopher;
Peters, Michelle;
Jia-Jen Duong;
Cavey, Matthieu;
Dörig, Ruth;
Lasko, Paul;
Suter, Beat

Publication type:

Article

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.

Published in:

Canadian Journal of Physiology & Pharmacology, 2015, v. 93, n. 7, p. 569, doi. 10.1139/cjpp-2014-0527

By:

Ördög, Balázs;
Hategan, Lidia;
Kovács, Mária;
Seprényi, György;
Kohajda, Zsófia;
Nagy, István;
Hegedűs, Zoltán;
Környei, László;
Jost, Norbert;
Katona, Márta;
Szekeres, Miklós;
Forster, Tamás;
Papp, Julius Gy.;
Varró, András;
Sepp, Róbert

Publication type:

Article

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.

Published in:

Diagnostic Pathology, 2016, v. 11, p. 1, doi. 10.1186/s13000-016-0498-y

By:

Chkioua, Latifa;
Khedhiri, Souhir;
Hafsi, Hind;
Grissa, Oussama;
Turkia, Hadhami Ben;
Miled, Abdelhedi;
Laradi, Sandrine;
Froissart, Roseline;
Alif, Najat

Publication type:

Article

Knockdown resistance mutations contributing to pyrethroid resistance in Aedes aegypti population, Saudi Arabia.

Published in:

Eastern Mediterranean Health Journal, 2019, v. 25, n. 12, p. 905, doi. 10.26719/emhj.19.081

By:

Dafalla, Ommer;
Alsheikh, Adel;
Mohammed, Waheed;
Shrwani, Khalid;
Alsheikh, Feras;
Hobani, Yahya;
Noureldin, Elsiddig

Publication type:

Article

Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family.

Published in:

Canadian Journal of Neurological Sciences, 2016, v. 43, n. 6, p. 833, doi. 10.1017/cjn.2016.17

By:

Tian, Xiaojie;
Wang, Min;
Zhang, Kaiyuan;
Zhang, Xinqing

Publication type:

Article

EXPRESSIVITY OF TOCOPHEROL MUTATIONS IN SUNFLOWER.

Published in:

Helia, 2006, v. 29, n. 45, p. 55, doi. 10.2298/HEL0645055D

By:

Demurin, Ya. N.;
Efimenko, S. G.;
Peretyagina, T. M.

Publication type:

Article

GENE LINKAGE TEST FOR imr WITH ol, tph1 AND tph2 MUTATIONS IN SUNFLOWER.

Published in:

Helia, 2006, v. 29, n. 44, p. 41, doi. 10.2298/HEL0644041D

By:

Demurin, Ya. N.;
Borisenko, O. M.;
Peretyagina, T. M.;
Perstenyeva, A. A.

Publication type:

Article

Cx26 Gene Mutations in Idiopathic Progressive Hearing Loss.

Published in:

Journal of Otolaryngology, 2005, v. 34, n. 2, p. 126, doi. 10.2310/7070.2005.04017

By:

Ravecca, Francesca;
Berrettini, Stefano;
Forli, Francesca;
Marcaccini, Mirella;
Casani, Augusta;
Baldinotti, Fulvia;
Fogli, Antonella;
Siciliano, Gabriel;
Simi, Paola

Publication type:

Article

Computational study on the molecular mechanisms of drug resistance of Narlaprevir due to V36M, R155K, V36M+R155K, T54A, and A156T mutations of HCV NS3/4A protease.

Published in:

Biochemistry & Cell Biology, 2014, v. 92, n. 5, p. 357, doi. 10.1139/bcb-2014-0039

By:

Wang, Huiqun;
Geng, Lingling;
Chen, Bo-Zhen;
Ji, Mingjuan

Publication type:

Article

Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation.

Published in:

Basic & Clinical Andrology, 2024, v. 34, n. 1, p. 1, doi. 10.1186/s12610-024-00240-3

By:

Xia, Huaqiang;
Zhang, Juan;
Mao, Wuyuan;
Yi, Kangle;
Wang, Teng;
Liao, Lingyan

Publication type:

Article

A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia.

Published in:

Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2023.1265022

By:

Zhuanghui Hao;
Juan Li;
Feng Gao;
Weixiao Ren;
Xiaomei Lu;
Jinyi Feng;
Chen Zhang;
Sicheng Bian;
Juan Xie;
Ming Luo;
Jianmei Chang;
Wanfang Yang;
Ruixia Hou;
Muyey, Daniel Muteb;
Jing Xu;
Jiangxia Cui;
Xiuhua Chen;
Hongwei Wang

Publication type:

Article

A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.814295

By:

Guo, Danxia;
Zheng, Yingchun;
Gan, Zhongzhi;
Guo, Yingying;
Jiang, Sijie;
Yang, Fang;
Xiong, Fu;
Zheng, Hua

Publication type:

Article

Length, orientation, and plant host influence the mutation frequency in microsatellites.

Published in:

Genome, 2006, v. 49, n. 11, p. 1366, doi. 10.1139/G06-099

By:

Azaiez, Aïda;
Bouchard, Éric F.;
Jean, Martine;
Belzile, François J.

Publication type:

Article

Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.

Published in:

Brazilian Journal of Biology, 2023, v. 83, p. 1, doi. 10.1590/1519-6984.246040

By:

Batool, T.;
Irshad, S.;
Mahmood, K.

Publication type:

Article

Somatic mutations substantially increase the per‐generation mutation rate in the conifer Picea sitchensis.

Published in:

Evolution Letters, 2019, v. 3, n. 4, p. 348, doi. 10.1002/evl3.121

By:

Hanlon, Vincent C. T.;
Otto, Sarah P.;
Aitken, Sally N.

Publication type:

Article

In silico analysis of IL7RA missense mutations in lung, breast and skin cancers.

Published in:

Trakya University Journal of Natural Sciences, 2025, v. 26, n. 1, p. 9, doi. 10.23902/trkjnat.1545678

By:

Keskin, Zeynep Tokcaer

Publication type:

Article

BLM mutation is associated with increased tumor mutation burden and improved survival after immunotherapy across multiple cancers.

Published in:

Cancer Medicine, 2024, v. 13, n. 1, p. 1, doi. 10.1002/cam4.6716

By:

Huiping Shi;
Liang Gao;
Hong Yin;
Min Jiang

Publication type:

Article

Dural Venous Sinus Thrombosis and Papilledema Related to JAK2 Mutation: A Case Series.

Published in:

Canadian Journal of Neurological Sciences, 2023, v. 50, n. 2, p. 194, doi. 10.1017/cjn.2021.512

By:

Donaldson, Laura;
Dhoot, Arjan S.;
Margolin, Edward

Publication type:

Article

High specificity of head circumference to recognize N540K mutation in hypochondroplasia.

Published in:

Annals of Human Biology, 2005, v. 32, n. 6, p. 782, doi. 10.1080/03014460500268481

By:

Fano, Virginia;
Gravina, Luis Pablo;
Pino, Mariana Del;
Chertkoff, Lilien;
Barreiro, Cristina;
Lejarraga, Horacio

Publication type:

Article

Evolutionary dependency of cancer mutations in gene pairs inferred by nonsynonymous-synonymous mutation ratios.

Published in:

Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01376-7

By:

Han, Dong-Jin;
Kim, Sunmin;
Lee, Seo-Young;
Moon, Youngbeen;
Kang, Su Jung;
Yoo, Jinseon;
Jeong, Hye Young;
Cho, Hae Jin;
Jeon, Jeong Yang;
Sim, Byeong Chang;
Kim, Jaehoon;
Lee, Seungho;
Xi, Ruibin;
Kim, Tae-Min

Publication type:

Article

Precise Identification of Recurrent Somatic Mutations in Oral Cancer Through Whole-Exome Sequencing Using Multiple Mutation Calling Pipelines.

Published in:

Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.741626

By:

Lin, Li-Han;
Chou, Chung-Hsien;
Cheng, Hui-Wen;
Chang, Kuo-Wei;
Liu, Chung-Ji

Publication type:

Article

Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00829

By:

Hu, Zhe-Yu;
Liu, Liping;
Xie, Ning;
Lu, Jun;
Liu, Zhentian;
Tang, Yu;
Wang, Yikai;
Yang, Jianbo;
Ouyang, Quchang

Publication type:

Article

Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211→Term).

Published in:

British Journal of Haematology, 2001, v. 114, n. 2, p. 369, doi. 10.1046/j.1365-2141.2001.02932.x

By:

Takamiya, Osamu;
Okimoto, Yuri

Publication type:

Article

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

Published in:

Neurogenetics, 2005, v. 6, n. 2, p. 85, doi. 10.1007/s10048-005-0211-x

By:

Finckh, Ulrich;
Kuschel, Christian;
Anagnostouli, Maria;
Patsouris, Efstratios;
Pantes, George;
Gatzonis, Stylianos;
Kapaki, Elisabeth;
Davaki, Panagiota;
Lamszus, Katrin;
Stavrou, Dimitrios;
Gal, Andreas

Publication type:

Article

Toward Improving the Quality of Mutation Operator and Test Case Effectiveness in Higher-Order Mutation Testing.

Published in:

Vietnam Journal of Computer Science (World Scientific), 2022, v. 9, n. 4, p. 511, doi. 10.1142/S2196888822500282

By:

Do, Van-Nho;
Nguyen, Quang-Vu;
Nguyen, Thanh-Binh

Publication type:

Article

Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation.

Published in:

Journal of Investigative Medicine High Impact Case Reports, 2024, p. 1, doi. 10.1177/23247096241286370

By:

Chan, Kok Hoe;
Clavijo, Nicolas Duque;
Ayala, Gustavo;
Hall, Ryan;
Wray, Curtis;
Cen, Putao

Publication type:

Article

Next Generation Sequencing Based Forward Genetic Approaches for Identification and Mapping of Causal Mutations in Crop Plants: A Comprehensive Review.

Published in:

Plants (2223-7747), 2020, v. 9, n. 10, p. 1355, doi. 10.3390/plants9101355

By:

Sahu, Parmeshwar K.;
Sao, Richa;
Mondal, Suvendu;
Vishwakarma, Gautam;
Gupta, Sudhir Kumar;
Kumar, Vinay;
Singh, Sudhir;
Sharma, Deepak;
Das, Bikram K.

Publication type:

Article

Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.

Published in:

Oncology Letters, 2019, v. 17, n. 3, p. 3350

By:

Cui, Yanzhi;
Wang, Yanyan;
Zhang, Ningzhi;
He, Jun;
Huang, Hui;
Liu, Fengling;
Wei, Suju;
Dong, Qian;
Wu, Jing;
Lin, Keke;
Chen, Weixi;
Xiang, Jiale;
Jin, Hui;
Peng, Zhiyu;
Zhao, Qiang;
Li, Wei;
Jiang, Da;
Banerjee, Santasree

Publication type:

Article

A novel melting curve-based method for detecting c-kit mutations in acute myeloid leukemia.

Published in:

Oncology Letters, 2014, v. 8, n. 1, p. 99, doi. 10.3892/ol.2014.2128

By:

QUANYI LU;
XIAO HUANG;
HUAYING CHEN;
XIAOMIN ZHAO

Publication type:

Article

Association Between Patient Characteristics and Diet Profile with Kirsten Rat Sarcoma (KRAS) and Neuroblastoma Rat Sarcoma (NRAS) Gene Mutation in Colorectal Cancer.

Published in:

Indonesian Journal of Gastroenterology, Hepatology & Digestive Endoscopy, 2019, v. 20, n. 1, p. 2

By:

Praja, Dedy Indra;
Helena;
Pratomo, Bogi

Publication type:

Article

Corrigendum: Association of LRP1B Mutation With Tumor Mutation Burden and Outcomes in Melanoma and Non-small Cell Lung Cancer Patients Treated With Immune Check-Point Blockades.

Published in:

2019

By:

Chen, Hao;
Chong, Wei;
Wu, Qian;
Yao, Yueliang;
Mao, Min;
Wang, Xin

Publication type:

Correction Notice

MUTATION TESTING: OBJECT-ORIENTED MUTATION AND TESTING TOOLS.

Published in:

Journal of Information Technology & Applications, 2011, v. 1, n. 2, p. 105

By:

Ivanković, Z.;
Markoski, B.;
Radosav, D.

Publication type:

Article

PTPN11 mutation with additional somatic alteration indicates unfavorable outcome in juvenile myelomonocytic leukemia: a retrospective clinical study from a single center.

Published in:

2020

By:

Miao, Yan;
Li, Benshang;
Ding, Lixia;
Zhu, Hua;
Luo, Changying;
Wang, Jianmin;
Luo, Chengjuan;
Chen, Jing

Publication type:

journal article

IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.763349

By:

Cheng, Peng;
Chen, Kun;
Zhang, Shu;
Mu, Ke-tao;
Liang, Shuang;
Zhang, Ying

Publication type:

Article

The Segregation of p.Arg68Ter- CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene.

Published in:

Genes, 2024, v. 15, n. 5, p. 588, doi. 10.3390/genes15050588

By:

Tlili, Abdelaziz;
Mutery, Abdullah Al;
Chouchen, Jihen

Publication type:

Article

c.1439delA frameshift deletion mutation in familial adenomatous polyposis.

Published in:

OncoTargets & Therapy, 2018, v. 11, p. 8987, doi. 10.2147/OTT.S183153

By:

Ma, De-Jian;
Wang, Bi-Shi;
Yue, Jin-Bo;
Li, Zeng-Jun;
Sun, Yan-Lai

Publication type:

Article