Works about MUTANT proteins

Results: 1787

2 个非综合征型先天缺牙家系的 MSX1 基因突变检测与分析.

Published in:

Journal of Prevention & Treatment For Stomatological Diseases, 2025, v. 33, n. 5, p. 359, doi. 10.12016/j.issn.2096-1456.202440524

By:

丁婷婷;
刘浩辰

Publication type:

Article

Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.

Published in:

Neurological Sciences, 2025, v. 46, n. 6, p. 2809, doi. 10.1007/s10072-024-07974-y

By:

Liu, Juan;
Hu, Jihong;
Duan, Yaqin;
Tan, Yaqiong;
Gao, Quwen;
Wu, Gefei

Publication type:

Article

Transcriptional repression of autophagy and lysosome biogenesis.

Published in:

Autophagy, 2025, v. 21, n. 6, p. 1379, doi. 10.1080/15548627.2025.2465404

By:

Kim, Jaebeom;
Yu, Young Suk;
Kim, Keun Il;
Baek, Sung Hee

Publication type:

Article

Tumor progression locus 2, a new potential prognostic factor and therapeutic target in activated B-cell-like diffuse large B-cell lymphoma.

Published in:

Blood Cancer Journal, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41408-025-01299-5

By:

Yoshifuji, Kota;
Motomura, Yotaro;
Saito, Makiko;
Kawade, Genji;
Watabe, Shiori;
Yamamoto, Kouhei;
Soejima, Mai;
Nogami, Ayako;
Aoyama, Satoru;
Mori, Takehiko;
Nagao, Toshikage

Publication type:

Article

Impact of nonsynonymous single nucleotide polymorphisms in PROCR gene on protein stability and thrombotic risk: a molecular dynamic approach.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1580993

By:

Abuagla, Hytham Ahmed;
Adam, Khalid Mohamed;
Elangeeb, Mohamed E.;
Ahmed, Elsadig Mohamed;
Ali, Elshazali W.;
Edris, Ali M.;
MohamedAhmed, Abubakr Ali Elamin;
Eltieb, Elmoiz Idris;
Khalid, Tarig Babikir Algak;
Elamin, Bahaeldin K.;
Osman, Hiba Mahgoub Ali;
Idris, Ebtehal Salih

Publication type:

Article

Distinct modes of interaction within eIF4F-like complexes and susceptibility to the RocA inhibitor for the Trypanosoma brucei EIF4AI translation initiation factor.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0322812

By:

Moura, Danielle M. N.;
Soares, Amanda L.;
da Silva, Adalúcia;
Ribeiro, João L. A. B.;
Sunter, Jack D.;
Assis, Ludmila A.;
Carrington, Mark;
de Melo Neto, Osvaldo P.

Publication type:

Article

Computational Analysis of Mutations in WNT10A Gene and Its Structural and Functional Consequences in Tooth Agenesis.

Published in:

Journal of Computational Biophysics & Chemistry, 2025, v. 24, n. 8, p. 1079, doi. 10.1142/S2737416525500115

By:

Kamaraj, Balu;
AlHumaid, Jehan;
Alsubaie, Abeer M.;
Verma, Kanika;
Abdelsalam, Maha;
Vasudevan, Karthick

Publication type:

Article

Establishing a Mouse Model of NL3R617W-Associated Autism Spectrum Disorder for a Functional Study.

Published in:

Actas Espanolas de Psiquiatria, 2025, v. 53, n. 2, p. 253, doi. 10.62641/aep.v53i2.1780

By:

Wei Gao;
Qiao Cai;
Xiaoming Ying;
Bei Zhao

Publication type:

Article

Stuck in Traffic—Myosin Motors Ease Gridlock in the Loop.

Published in:

Function, 2025, v. 6, n. 1, p. 1, doi. 10.1093/function/zqaf008

By:

Curry, Joshua N;
McCormick, James A

Publication type:

Article

The Significance of the M6 and M8 Membrane Segments in the Biogenesis and Functioning of the Yeast PMA1 H+-ATPase.

Published in:

Microbiology (00262617), 2025, v. 94, n. 2, p. 227, doi. 10.1134/S0026261724608984

By:

Petrov, V. V.

Publication type:

Article

Correction: Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.

Published in:

2025

By:

Liang, Xiongda;
Si, Jiameng;
Xie, Hongting;
Guan, Yuqing;
Lin, Wanying;
Lin, Zezhang;
Zheng, Ganwei;
Wei, Xiaofeng;
Xiong, Xingbang;
Zhuang, Zhengfei;
Shang, Xuan

Publication type:

Correction Notice

Shared-weight graph framework for comprehensive protein stability prediction across diverse mutation types.

Published in:

Briefings in Bioinformatics, 2025, v. 26, n. 2, p. 1, doi. 10.1093/bib/bbaf190

By:

Li, Gen;
Yao, Sijie;
Fan, Long

Publication type:

Article

Retraction: PER-TIM Interactions with the Photoreceptor Cryptochrome Mediate Circadian Temperature Responses in Drosophila.

Published in:

PLoS Biology, 2016, v. 14, n. 2, p. 1, doi. 10.1371/journal.pbio.1002403

By:

Kaushik, Rachna;
Nawathean, Pipat;
Busza, Ania;
Murad, Alejandro;
Emery, Patrick;
Rosbash, Michael

Publication type:

Article

Weak temperature dependence of P H recombination in mutant Rhodobacter sphaeroides reaction centers.

Published in:

Photosynthesis Research, 2016, v. 128, n. 3, p. 243, doi. 10.1007/s11120-016-0239-9

By:

Gibasiewicz, Krzysztof;
Białek, Rafał;
Pajzderska, Maria;
Karolczak, Jerzy;
Burdziński, Gotard;
Jones, Michael;
Brettel, Klaus

Publication type:

Article

Characterization of a Synechocystis sp. PCC 6803 double mutant lacking the CyanoP and Ycf48 proteins of Photosystem II.

Published in:

Photosynthesis Research, 2015, v. 124, n. 2, p. 217, doi. 10.1007/s11120-015-0122-0

By:

Jackson, Simon;
Eaton-Rye, Julian

Publication type:

Article

Differentially expressed genes related to the formation of russet fruit skin in a mutant of 'Dangshansuli' pear ( Pyrus bretchnederi Rehd.) determined by suppression subtractive hybridization.

Published in:

Euphytica, 2014, v. 196, n. 2, p. 285, doi. 10.1007/s10681-013-1032-x

By:

Heng, Wei;
Liu, Li;
Wang, Meng-dong;
Jia, Bing;
Liu, Pu;
Ye, Zhen-feng;
Zhu, Li-wu

Publication type:

Article

Development of Bacillus subtilis mutants to produce tryptophan in pigs.

Published in:

Biotechnology Letters, 2017, v. 39, n. 2, p. 289, doi. 10.1007/s10529-016-2245-6

By:

Bjerre, Karin;
Cantor, Mette;
Nørgaard, Jan;
Poulsen, Hanne;
Blaabjerg, Karoline;
Canibe, Nuria;
Jensen, Bent;
Stuer-Lauridsen, Birgitte;
Nielsen, Bea;
Derkx, Patrick

Publication type:

Article

Site-directed mutagenesis in bacteriorhodopsin mutants and their characterization for bioelectrical and biotechnological equipment.

Published in:

Biotechnology Letters, 2012, v. 34, n. 3, p. 455, doi. 10.1007/s10529-011-0731-4

By:

Saeedi, Pardis;
Moosaabadi, Jafar;
Sebtahmadi, Seyed;
Behmanesh, Mehrdad;
Mehrabadi, Jalil

Publication type:

Article

ISL1 loss-of-function mutation contributes to congenital heart defects.

Published in:

Heart & Vessels, 2019, v. 34, n. 4, p. 658, doi. 10.1007/s00380-018-1289-z

By:

Ma, Lan;
Wang, Juan;
Li, Li;
Qiao, Qi;
Di, Ruo-Min;
Li, Xiu-Mei;
Xu, Ying-Jia;
Zhang, Min;
Li, Ruo-Gu;
Qiu, Xing-Biao;
Li, Xun;
Yang, Yi-Qing

Publication type:

Article

H3K27M, IDH1, and ATRX expression in pediatric GBM and their clinical and prognostic significance.

Published in:

Child's Nervous System, 2019, v. 35, n. 9, p. 1537, doi. 10.1007/s00381-019-04222-z

By:

Uppar, Alok Mohan;
Sugur, Harsha;
Prabhuraj, A. R.;
Rao, M. Bhaskara;
Devi, B. Indira;
Sampath, S.;
Arivazhagan, A.;
Santosh, Vani

Publication type:

Article

Effect of (R)-2-Amino-6-(1R,2S)-1,2-Dihydroxypropyl)-5,6,7,8-Tetrahydropterin-4(3H)-One and Its Structural Analogues on the Temperature Stability of Tryptophan Hydroxylase 2 with the P447R Mutation.

Published in:

Bulletin of Experimental Biology & Medicine, 2024, v. 176, n. 6, p. 756, doi. 10.1007/s10517-024-06103-1

By:

Arefieva, A. B.;
Komleva, P. D.;
Gubina, M.;
Kulikov, A. V.

Publication type:

Article

Morphofunctional Differences of Micronuclei in Cultures of Human p53-Positive and p53-Negative Tumor Cells.

Published in:

Bulletin of Experimental Biology & Medicine, 2019, v. 167, n. 6, p. 813, doi. 10.1007/s10517-019-04629-3

By:

Sutyagina, O. I.;
Kisurina-Evgenieva, O. P.

Publication type:

Article

Effect of Mutations in SOD1 and C9orf72 Genes on Autophagy in Lymphomonocytes in Myotrophic Lateral Sclerosis.

Published in:

Bulletin of Experimental Biology & Medicine, 2019, v. 167, n. 5, p. 667, doi. 10.1007/s10517-019-04595-w

By:

Kochergin, I. A.;
Shpilyukova, Yu. A.;
Lysogorskaia, E. V.;
Abramycheva, N. Yu.;
Zakharova, M. N.;
Illarioshkin, S. N.

Publication type:

Article

Morphofunctional Differences of Micronuclei in Cultures of Human p53-Positive and p53-Negative Tumor Cells.

Published in:

Bulletin of Experimental Biology & Medicine, 2019, v. 166, n. 6, p. 813, doi. 10.1007/s10517-019-04629-3

By:

Sutyagina, O. I.;
Kisurina-Evgenieva, O. P.

Publication type:

Article

Effect of Mutations in SOD1 and C9orf72 Genes on Autophagy in Lymphomonocytes in Myotrophic Lateral Sclerosis.

Published in:

Bulletin of Experimental Biology & Medicine, 2019, v. 166, n. 6, p. 667, doi. 10.1007/s10517-019-04595-w

By:

Kochergin, I. A.;
Shpilyukova, Yu. A.;
Lysogorskaia, E. V.;
Abramycheva, N. Yu.;
Zakharova, M. N.;
Illarioshkin, S. N.

Publication type:

Article

Regression modelling of conditional morphogene expression links and quantifies the impact of growth rate, fitness and macromorphology with protein secretion in Aspergillus niger.

Published in:

Biotechnology for Biofuels & Bioproducts, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13068-023-02345-9

By:

Cairns, Timothy C.;
de Kanter, Tom;
Zheng, Xiaomei Z.;
Zheng, Ping;
Sun, Jibin;
Meyer, Vera

Publication type:

Article

The arabinose transporter MtLat-1 is involved in hemicellulase repression as a pentose transceptor in Myceliophthora thermophila.

Published in:

Biotechnology for Biofuels & Bioproducts, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13068-023-02305-3

By:

Gu, Shuying;
Zhao, Zhen;
Xue, Fanglei;
Liu, Defei;
Liu, Qian;
Li, Jingen;
Tian, Chaoguang

Publication type:

Article

Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays.

Published in:

Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae410

By:

Landles, Christian;
Osborne, Georgina F;
Phillips, Jemima;
Canibano-Pico, Maria;
Nita, Iulia M;
Ali, Nadira;
Bobkov, Konstantin;
Greene, Jonathan R;
Sathasivam, Kirupa;
Bates, Gillian P

Publication type:

Article

Mutation in PgABCC2 confers low‐level resistance to Cry1Ac in pink bollworm.

Published in:

Pest Management Science, 2024, v. 80, n. 7, p. 3326, doi. 10.1002/ps.8036

By:

Wang, Ling;
Xu, Min;
He, Lu;
Wei, Wei;
Xu, Dong;
Cong, Shengbo;
Liu, Kaiyu;
Wan, Peng

Publication type:

Article

The determination of Plutella xylostella (L.) GSTs (PxGSTs) involved in the detoxification metabolism of Tolfenpyrad.

Published in:

Pest Management Science, 2020, v. 76, n. 12, p. 4036, doi. 10.1002/ps.5958

By:

Li, Yifan;
Sun, Hong;
Tian, Zhen;
Su, Xinxin;
Li, Yue;
Ye, Xuan;
Zhou, Yifei;
Zheng, Shengli;
Liu, Jiyuan;
Zhang, Yalin

Publication type:

Article

Integrated molecular characterisation of endometrioid ovarian carcinoma identifies opportunities for stratification.

Published in:

NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00187-y

By:

Hollis, Robert L.;
Stanley, Barbara;
Thomson, John P.;
Churchman, Michael;
Croy, Ian;
Rye, Tzyvia;
Bartos, Clare;
Nussey, Fiona;
Mackean, Melanie;
Meynert, Alison M.;
Semple, Colin A.;
Gourley, Charlie;
Herrington, C. Simon

Publication type:

Article

Neurodegenerative disease: hunting out the NUB1 of the matter.

Published in:

2013

By:

Flight, Monica Hoyos

Publication type:

journal article

Improving the Synthesis Efficiency of Amino Acids by Analyzing the Key Sites of Intracellular Self-Assembly of Artificial Cellulosome.

Published in:

Fermentation (Basel), 2024, v. 10, n. 5, p. 229, doi. 10.3390/fermentation10050229

By:

Li, Nan;
Yang, Lu;
Ren, Xiankun;
Du, Peng;
Li, Piwu;
Su, Jing;
Xiao, Jing;
Wang, Junqing;
Wang, Ruiming

Publication type:

Article

Structure and Properties of Starch in Rice Double Mutants Lacking Starch Synthase (SS) IIa and Starch Branching Enzyme (BE) IIb.

Published in:

Journal of Applied Glycoscience, 2021, v. 68, n. 2, p. 31, doi. 10.5458/jag.jag.JAG-2021_0002

By:

Tamami Ida;
Naoko Crofts;
Satoko Miura;
Ryo Matsushima;
Naoko Fujita

Publication type:

Article

The Bradyrhizobium diazoefficiens two-component system NtrYX has a key role in symbiotic nitrogen fixation of soybean plants and cbb3 oxidase expression in bacteroids.

Published in:

Plant & Soil, 2019, v. 440, n. 1/2, p. 167, doi. 10.1007/s11104-019-04067-0

By:

López, María Florencia;
Hegel, Valeria A.;
Torres, María Jesús;
García, Alba Hidalgo;
Delgado, María J.;
López-García, Silvina L.

Publication type:

Article

Investigating the physiological role of S199A and S199D mutants of PHF6 protein in T-cell acute lymphoblastic leukemia.

Published in:

Turkish Journal of Medical Sciences, 2023, v. 53, n. 5, p. 1234, doi. 10.55730/1300-0144.5689

By:

ERDOĞAN, Gökçe;
ÖZEŞ, Osman Nidai;
KÜPESİZ, Alphan;
YOLDAŞ, Şükran Burçak

Publication type:

Article

Natural and Synthetic Inhibitors of Heat Shock Protein 90 Chaperone in Cancer Treatment.

Published in:

Indian Journal of Pharmaceutical Education & Research, 2024, v. 58, n. 2, p. 401, doi. 10.5530/ijper.58.2.45

By:

Ravula, Shravanthi;
Akula, Sravani;
Kancha, Rama Krishna

Publication type:

Article

Design of ALK Inhibitors for Non-Small Cell Lung Cancer – A Fragment Based Approach.

Published in:

Indian Journal of Pharmaceutical Education & Research, 2020, v. 54, n. 1, p. 114, doi. 10.5530/ijper.54.1.14

By:

Jain, Anika;
James, Nivya;
Shanthi, Veerapapillai;
Ramanathan, Karuppasamy

Publication type:

Article

In-Silico Evaluation, Chemical Reactivity, and Covalent Docking Study of Various Quinazolines and Pyridopyrimidines as Inhibitors for the Epidermal Growth Factor Receptor.

Published in:

Polycyclic Aromatic Compounds, 2024, v. 44, n. 5, p. 3532, doi. 10.1080/10406638.2023.2237628

By:

Khelfaoui, Hadjer;
Harkati, Dalal;
Saleh, Basil A.;
Hewitt, Natalie L.;
Alnajjar, Radwan;
El-Hiti, Gamal A.

Publication type:

Article

Synthesis, DFT and In Silico Anti-COVID Evaluation of Novel Tetrazole Analogues.

Published in:

Polycyclic Aromatic Compounds, 2023, v. 43, n. 3, p. 1941, doi. 10.1080/10406638.2022.2036778

By:

Devasia, Jyothis;
Chinnam, Sampath;
Khatana, Kavita;
Shakya, Sonam;
Joy, Francis;
Rudrapal, Mithun;
Nizam, Aatika

Publication type:

Article

甜味蛋白monellin高甜度、强热稳定性突变体的分子构建及性质研究.

Published in:

Journal of Chinese Institute of Food Science & Technology / Zhongguo Shipin Xuebao, 2024, v. 24, n. 8, p. 53, doi. 10.16429/j.1009-7848.2024.08.005

By:

刘毅;
卢尚阳;
王语晴;
刘波

Publication type:

Article

基于质谱的蛋白质绝对定量研究策略和建议.

Published in:

Journal of Chinese Mass Spectrometry Society, 2021, v. 42, n. 2, p. 101, doi. 10.7538/zpxb.2020.0028

By:

沈枫林;
熊悦婷;
刘晓慧;
杨秡原

Publication type:

Article

Characterization of CcTFL1 Governing Plant Architecture in Pigeon pea (Cajanus cajan (L.) Millsp.).

Published in:

Plants (2223-7747), 2023, v. 12, n. 11, p. 2168, doi. 10.3390/plants12112168

By:

Mendapara, Isha;
Modha, Kaushal;
Patel, Sunayan;
Parekh, Vipulkumar;
Patel, Ritesh;
Chauhan, Digvijay;
Bardhan, Kirti;
Siddiqui, Manzer H.;
Alamri, Saud;
Rahman, Md Atikur

Publication type:

Article

The Arabidopsis Rho of Plants GTPase ROP1 Is a Potential Calcium-Dependent Protein Kinase (CDPK) Substrate.

Published in:

Plants (2223-7747), 2021, v. 10, n. 10, p. 2053, doi. 10.3390/plants10102053

By:

Ménesi, Dalma;
Klement, Éva;
Ferenc, Györgyi;
Fehér, Attila

Publication type:

Article

An extracellular vesicular mutant KRAS‐associated protein complex promotes lung inflammation and tumor growth.

Published in:

Journal of Extracellular Vesicles, 2023, v. 12, n. 2, p. 1, doi. 10.1002/jev2.12307

By:

Sriwastva, Mukesh K.;
Teng, Yun;
Mu, Jingyao;
Xu, Fangyi;
Kumar, Anil;
Sundaram, Kumaran;
Malhotra, Rajiv Kumar;
Xu, Qingbo;
Hood, Joshua L.;
Zhang, Lifeng;
Yan, Jun;
Merchant, Michael L.;
Park, Juw Won;
Dryden, Gerald W.;
Egilmez, Nejat K.;
Zhang, Huang‐Ge

Publication type:

Article

Biosynthetic neoantigen displayed on bacteria derived vesicles elicit systemic antitumour immunity.

Published in:

Journal of Extracellular Vesicles, 2022, v. 11, n. 12, p. 1, doi. 10.1002/jev2.12289

By:

Meng, Fanqiang;
Li, Liyan;
Zhang, Zhirang;
Lin, Zhongda;
Zhang, Jinxie;
Song, Xiao;
Xue, Tianyuan;
Xing, Chenyang;
Liang, Xin;
Zhang, Xudong

Publication type:

Article

Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.96831

By:

Djebar, Morgane;
Anselme, Isabelle;
Pezeron, Guillaume;
Bardet, Pierre-Luc;
Cantaut-Belarif, Yasmine;
Eschstruth, Alexis;
López-Santos, Diego;
Le Ribeuz, Hélène;
Jenett, Arnim;
Khoury, Hanane;
Veziers, Joelle;
Parmentier, Caroline;
Hirschler, Aurélie;
Carapito, Christine;
Bachmann-Gagescu, Ruxandra;
Schneider-Maunoury, Sylvie;
Vesque, Christine

Publication type:

Article

Modulation of biophysical properties of nucleocapsid protein in the mutant spectrum of SARS-CoV- 2.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.94836

By:

Ai Nguyen;
Huaying Zhao;
Myagmarsuren, Dulguun;
Srinivasan, Sanjana;
Di Wu;
Jiji Chen;
Piszczek, Grzegorz;
Schuck, Peter

Publication type:

Article

Scavenger receptor endocytosis controls apical membrane morphogenesis in the Drosophila airways.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.84974

By:

Pinheiro, Ana Sofia;
Tsarouhas, Vasilios;
Senti, Kirsten André;
Arefin, Badrul;
Samakovlis, Christos

Publication type:

Article

RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70059

By:

Liu, Qian;
Li, Feifei;
Ruan, Qin;
Wang, Nana;
Fan, Zhengjun

Publication type:

Article