Works matching DE "MUTANT proteins"

Results: 1801

Modulating autophagy in KRAS mutant colorectal cancer using combination of oncolytic reovirus and carbamazepine.

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0326029

By:

Shaykevich, Aaron;
Chae, Danbee;
Silverman, Isaac;
Goel, Sanjay;
Maitra, Radhashree

Publication type:

Article

Acquired Resistance to Decitabine Associated with the Deoxycytidine Kinase A180P Mutation: Implications for the Order of Hypomethylating Agents in Myeloid Malignancies Treatment.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5083, doi. 10.3390/ijms26115083

By:

Simonicova, Kristina;
Janotka, Lubos;
Kavcova, Helena;
Borovska, Ivana;
Sulova, Zdena;
Breier, Albert;
Messingerova, Lucia

Publication type:

Article

Regulation of N‐Glycosylation of CDNF on Its Protein Stability and Function in Hypoxia/Reoxygenation Model of H9C2 Cells.

Published in:

Cell Biology International, 2025, v. 49, n. 5, p. 472, doi. 10.1002/cbin.70000

By:

Huang, Qingwen;
Dong, Haibin;
Jia, Wenjuan;
Ren, Yanxin;
Li, Wei;
Zhong, Lin;
Gong, Lei;
Yang, Jun

Publication type:

Article

A de novo SALL4 mutation causes unilateral renal agenesis by misregulating genes involved in kidney development.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03833-x

By:

Zhao, Rong;
Fan, Yali;
Li, Jieyan;
Li, Lin;
Yin, Chenghong

Publication type:

Article

Structural and Functional Analysis of the Human IQSEC2 S1474Qfs*133 Mutation.

Published in:

Biomolecules (2218-273X), 2025, v. 15, n. 5, p. 635, doi. 10.3390/biom15050635

By:

Israel, Yonat;
Lowenkamp, Aaron;
Shokhen, Michael;
Netser, Shai;
Wagner, Shlomo;
Zarowin, Joseph;
Orth, Shaun;
Borisov, Veronika;
Lache, Orit;
Levy, Nina S.;
Levy, Andrew P.

Publication type:

Article

Gα13 Promotes Clonogenic Growth by Increasing Tolerance to Oxidative Metabolic Stress in Prostate Cancer Cells.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4883, doi. 10.3390/ijms26104883

By:

Wu, Di;
Lim, Wei Kiang;
Chai, Xiaoran;
Seshachalam, Veerabrahma Pratap;
Rasheed, Suhail Ahmed Kabeer;
Ghosh, Sujoy;
Casey, Patrick J.

Publication type:

Article

A Novel KGD-Based αIIbβ3 Antagonist Prevents Arterial Thrombosis While Preserving Hemostasis and Avoiding Thrombocytopenia.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4530, doi. 10.3390/ijms26104530

By:

Kuo, Yu-Ju;
Chung, Ching-Hu;
Chen, Chun-Chao;
Liu, Ju-Chi;
Chiou, Kuan-Rau;
Sheu, Joen-Rong;
Chuang, Woei-Jer;
Huang, Tur-Fu

Publication type:

Article

Fluorescence Lifetime Multiplexing with Fluorogen-Activating FAST Protein Variants and Red-Shifted Arylidene–Imidazolone Derivative as Fluorogen.

Published in:

Biosensors (2079-6374), 2025, v. 15, n. 5, p. 274, doi. 10.3390/bios15050274

By:

Gilvanov, Aidar R.;
Myasnyanko, Ivan N.;
Goncharuk, Sergey A.;
Goncharuk, Marina V.;
Kublitski, Vadim S.;
Bodunova, Daria V.;
Sidorenko, Svetlana V.;
Maksimov, Eugene G.;
Baranov, Mikhail S.;
Bogdanova, Yulia A.

Publication type:

Article

Getting your vitamins-out.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 6, p. 656, doi. 10.1038/nsmb.2609

By:

Chen, Inês

Publication type:

Article

Novel WEE2 compound heterozygous mutations identified in patients with fertilization failure or poor fertilization.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 11, p. 2861, doi. 10.1007/s10815-021-02285-z

By:

Jin, Jiamin;
Tong, Xiaomei;
Zhang, Yin-Li;
Yang, Weijie;
Ma, Yerong;
Ren, Peipei;
Zhou, Feng;
Zhang, Songying

Publication type:

Article

A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 6, p. 1459, doi. 10.1007/s10815-021-02136-x

By:

Wang, Jing;
Yang, Xiaoyu;
Sun, Xueping;
Ma, Long;
Yin, Yaoxue;
He, Guoxiang;
Zhang, Yuan;
Zhou, Jie;
Cai, Lingbo;
Liu, Jiayin;
Ma, Xiang

Publication type:

Article

A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 5, p. 1239, doi. 10.1007/s10815-021-02107-2

By:

Sun, Yiming;
Zeng, Yang;
Chen, Hua;
Zhou, Zhou;
Fu, Jing;
Sang, Qing;
Wang, Lei;
Sun, Xiaoxi;
Chen, Biaobang;
Xu, Congjian

Publication type:

Article

A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 4, p. 949, doi. 10.1007/s10815-021-02075-7

By:

Lu, Mengmeng;
Kong, Shuai;
Xiang, Mingfei;
Wang, Yu;
Zhang, Jingjing;
Duan, Zongliu;
Zha, Xiaomin;
Wang, Fengsong;
Cao, Yunxia;
Zhu, Fuxi

Publication type:

Article

Clinical and genetic analysis of cytochrome P450 oxidoreductase (POR) deficiency in a female and the analysis of a novel POR intron mutation causing alternative mRNA splicing: Overall analysis of a female with POR deficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 10, p. 2503, doi. 10.1007/s10815-020-01899-z

By:

Zhang, Tao;
Li, Zhou;
Ren, Xinling;
Huang, Bo;
Zhu, Guijin;
Yang, Wei;
Jin, Lei

Publication type:

Article

Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 443, doi. 10.1007/s10815-019-01675-8

By:

Peng, Tianliu;
Lv, Chao;
Tan, Hangjing;
Huang, Jiafeng;
He, Hailun;
Wang, Yan;
Zeng, Minghua;
Yi, Dajing;
Li, Jie;
Deng, Hongwen;
Shi, Xiaobo;
Xiao, Hongmei

Publication type:

Article

Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 9, p. 1957, doi. 10.1007/s10815-019-01553-3

By:

Zhou, Xiaopei;
Zhu, Lixia;
Hou, Meiqi;
Wu, Yanling;
Li, Zhou;
Wang, Jiarui;
Liu, Zhenxing;
Zhang, Dazhi;
Jin, Lei;
Zhang, Xianqin

Publication type:

Article

Effective detection of BRAF<sup>V595E</sup> mutation in canine urothelial and prostate carcinomas using immunohistochemistry.

Published in:

Veterinary & Comparative Oncology, 2024, v. 22, n. 2, p. 295, doi. 10.1111/vco.12978

By:

Aeschlimann, Leonore;
Kehl, Alexandra;
Guscetti, Franco;
Posthaus, Caroline;
Aupperle‐Lellbach, Heike;
Rottenberg, Sven;
de Brot, Simone

Publication type:

Article

Molecular characterization of canine SHP2 mutants and anti‐tumour effect of SHP2 inhibitor, SHP099, in a xenograft mouse model of canine histiocytic sarcoma.

Published in:

Veterinary & Comparative Oncology, 2022, v. 20, n. 1, p. 109, doi. 10.1111/vco.12751

By:

Tani, Hiroyuki;
Miyamoto, Ryo;
Nagashima, Tomokazu;
Michishita, Masaki;
Tamura, Kyoichi;
Bonkobara, Makoto

Publication type:

Article

The Role of the NDQ Motif in Sodium-Pumping Rhodopsins.

Published in:

Angewandte Chemie, 2015, v. 127, n. 39, p. 11698, doi. 10.1002/ange.201504549

By:

Inoue, Keiichi;
Konno, Masae;
Abe-Yoshizumi, Rei;
Kandori, Hideki

Publication type:

Article

Concerted Asynchronous Hula-Twist Photoisomerization in the S65T/H148D Mutant of Green Fluorescent Protein.

Published in:

Angewandte Chemie, 2014, v. 126, n. 33, p. 8793, doi. 10.1002/ange.201405303

By:

Zhang, Qiangqiang;
Chen, Xuebo;
Cui, Ganglong;
Fang, Wei ‐ Hai;
Thiel, Walter

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

Annexin-A5 monomer as a membrane repair agent for the treatment of renal ischemia-reperfusion injury.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09606-2

By:

Dong, Yushan;
Jia, Zhuoxuan;
Kang, Bijun;
Zhang, Wenjie

Publication type:

Article

A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09469-7

By:

Li, Zhongxia;
Xu, Ke;
Zhou, Zhumei;
Liang, Chi;
Gu, Weiyue;
Ran, Jianyu

Publication type:

Article

Expression and functional analysis of two mutant proteins generated from an elicitin, ParA1 produced by Phytophthora parasitica.

Published in:

European Journal of Plant Pathology, 2016, v. 146, n. 2, p. 383, doi. 10.1007/s10658-016-0924-8

By:

Wang, Xiaoli;
Hu, Youdong;
Shi, Yingying;
Xiong, Qingping;
Wang, Jizhong;
Zhou, Qing;
Zhao, Xirong;
Wang, Yunpeng

Publication type:

Article

Characterization of the copper-sensing transcriptional regulator CopR from the hyperthermophilic archeaon Thermococcus onnurineus NA1.

Published in:

BioMetals, 2019, v. 32, n. 6, p. 923, doi. 10.1007/s10534-019-00223-2

By:

Kim, Seo-Yeon;
Jeong, Hong Joo;
Kim, Minwook;
Choi, Ae Ran;
Kim, Min-Sik;
Kang, Sung Gyun;
Lee, Sung-Jae

Publication type:

Article

Cancer-associated mutations in protein kinase C theta are loss-of-function.

Published in:

Biochemical Journal, 2024, v. 481, n. 12, p. 759, doi. 10.1042/bcj20240148

By:

Hodapp, Stefanie J.;
Gravel, Nathan;
Kannan, Natarajan;
Newton, Alexandra C.

Publication type:

Article

Dynamic regulation of RAS and RAS signaling.

Published in:

Biochemical Journal, 2023, v. 480, n. 1, p. 1, doi. 10.1042/BCJ20220234

By:

Kolch, Walter;
Berta, Dénes;
Rosta, Edina

Publication type:

Article

Conserved L464 in p97 D1-D2 linker is critical for p97 cofactor regulated ATPase activity.

Published in:

Biochemical Journal, 2021, v. 478, n. 17, p. 3185, doi. 10.1042/BCJ20210288

By:

Xiaoyi Zhang;
Lin Gui;
Shan Li;
Nandi, Purbasha;
Columbres, Rod Carlo;
Wong, Daniel E.;
Moen, Derek R.;
Lin, Henry J.;
Po-Lin Chiu;
Tsui-Fen Chou

Publication type:

Article

Abiological catalysis by myoglobin mutant with a genetically incorporated unnatural amino acid.

Published in:

Biochemical Journal, 2021, v. 478, n. 9, p. 1795, doi. 10.1042/BCJ20210091

By:

Chand, Subhash;
Ray, Sriparna;
Yadav, Poonam;
Samanta, Susruta;
Pierce, Brad S.;
Perera, Roshan

Publication type:

Article

Mg-protoporphyrin IX monomethyl ester cyclase from Rhodobacter capsulatus: radical SAM-dependent synthesis of the isocyclic ring of bacteriochlorophylls.

Published in:

Biochemical Journal, 2020, v. 477, n. 23, p. 4635, doi. 10.1042/BCJ20200761

By:

Wiesselmann, Milan;
Hebecker, Stefanie;
Acuña, José M. Borrero-de;
Nimtz, Manfred;
Bollivar, David;
Jänsch, Lothar;
Moser, Jürgen;
Jahn, Dieter

Publication type:

Article

Characterization of Streptococcus pneumoniae PriA helicase and its ATPase and unwinding activities in DNA replication restart.

Published in:

Biochemical Journal, 2020, v. 477, n. 19, p. 3911, doi. 10.1042/BCJ20200269

By:

Min-Guan Lin;
Yi-Ching Li;
Chwan-Deng Hsiao

Publication type:

Article

Phosphatase-defective DevS sensor kinase mutants permit constitutive expression of DevR-regulated dormancy genes in Mycobacterium tuberculosis.

Published in:

Biochemical Journal, 2020, v. 477, n. 9, p. 1669, doi. 10.1042/BCJ20200113

By:

Kumari, Priyanka;
Kumar, Sudhir;
Kaur, Kohinoor;
Gupta, Umesh Datta;
Bhagyawant, Sameer Suresh;
Tyagi, Jaya Sivaswami

Publication type:

Article

PROXiMATE: a database of mutant protein-protein complex thermodynamics and kinetics.

Published in:

Bioinformatics, 2017, v. 33, n. 17, p. 2787, doi. 10.1093/bioinformatics/btx312

By:

Jemimah, Sherlyn;
Yugandhar, K.;
Gromiha, M. Michael

Publication type:

Article

SKEMPI: a Structural Kinetic and Energetic database of Mutant Protein Interactions and its use in empirical models.

Published in:

Bioinformatics, 2012, v. 28, n. 20, p. 2600, doi. 10.1093/bioinformatics/bts489

By:

Moal, Iain H.;
Fernández-Recio, Juan

Publication type:

Article

Effect of Mitochondrial DNA T15663C Mutation on Type 2 Diabetes Mellitus and Cataract Patients, Molecular Dynamics Simulation Study.

Published in:

Trends in Sciences, 2024, v. 21, n. 10, p. 1, doi. 10.48048/tis.2024.8195

By:

Rahmadanthi, Fanny Rizki;
Maulana, Ahmad Fariz;
Destiarani, Wanda;
Gaffar, Shabarni;
Maksum, Iman Permana

Publication type:

Article

DnaK response to expression of protein mutants is dependent on translation rate and stability.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03542-2

By:

Christensen, Signe;
Rämisch, Sebastian;
André, Ingemar

Publication type:

Article

Oligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03259-2

By:

Young, Kelly Z.;
Rojas Ramírez, Carolina;
Keep, Simon G.;
Gatti, John R.;
Lee, Soo Jung;
Zhang, Xiaojie;
Ivanova, Magdalena I.;
Ruotolo, Brandon T.;
Wang, Michael M.

Publication type:

Article

A cell-based multiplex immunoassay platform using fluorescent protein-barcoded reporter cell lines.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02881-w

By:

Song, Shengli;
Manook, Miriam;
Kwun, Jean;
Jackson, Annette M.;
Knechtle, Stuart J.;
Kelsoe, Garnett

Publication type:

Article

Structural Evaluation and Conformational Dynamics of ZNF141 T474I Mutation Provoking Postaxial Polydactyly Type A.

Published in:

Bioengineering (Basel), 2022, v. 9, n. 12, p. 749, doi. 10.3390/bioengineering9120749

By:

Ali, Yasir;
Ahmad, Faisal;
Ullah, Muhammad Farhat;
Haq, Noor Ul;
Haq, M. Inam Ul;
Aziz, Abdul;
Zouidi, Ferjeni;
Khan, M. Ijaz;
Eldin, Sayed M.

Publication type:

Article

Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1420, doi. 10.3390/jcm8091420

By:

Cabasso, Or;
Paul, Sumit;
Dorot, Orly;
Maor, Gali;
Krivoruk, Olga;
Pasmanik-Chor, Metsada;
Mirzaian, Mina;
Ferraz, Maria;
Aerts, Johannes;
Horowitz, Mia

Publication type:

Article

Defective Motile Cilia in Prickle2-Deficient Mice.

Published in:

Journal of Neurogenetics, 2014, v. 28, n. 1/2, p. 146, doi. 10.3109/01677063.2014.885966

By:

Sowers, Levi P.;
Yin, Terry;
Mahajan, Vinit B.;
Bassuk, Alexander G.

Publication type:

Article

Isolation and Selection of Protein-Rich Mutants of Chlorella vulgaris by Fluorescence-Activated Cell Sorting with Enhanced Biostimulant Activity to Germinate Garden Cress Seeds.

Published in:

Plants (2223-7747), 2024, v. 13, n. 17, p. 2441, doi. 10.3390/plants13172441

By:

Trovão, Mafalda;
Schüler, Lisa;
Pedroso, Humberto;
Reis, Ana;
Santo, Gonçalo Espírito;
Barros, Ana;
Correia, Nádia;
Ribeiro, Joana;
Bombo, Gabriel;
Gama, Florinda;
Viana, Catarina;
Costa, Monya M.;
Ferreira, Sara;
Cardoso, Helena;
Varela, João;
Silva, Joana;
Freitas, Filomena;
Pereira, Hugo

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

A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 1, p. 137, doi. 10.1002/acn3.52262

By:

Yang, Li;
Wan, Xingyu;
Hua, Ran;
Jiang, Junhong;
Wang, Baotian;
Tao, Rui;
Wu, De

Publication type:

Article

Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1909, doi. 10.1002/acn3.52113

By:

Hsiao, Cheng‐Tsung;
Tsai, Tzu‐Yun;
Shen, Ting‐Yi;
Tsai, Yu‐Shuen;
Liao, Yi‐Chu;
Lee, Yi‐Chung;
Tsai, Pei‐Chien

Publication type:

Article

Protein kinetics of superoxide dismutase‐1 in familial and sporadic amyotrophic lateral sclerosis.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 1012, doi. 10.1002/acn3.51784

By:

Ly, Cindy V.;
Ireland, Margaret D.;
Self, Wade K.;
Bollinger, James;
Jockel‐Balsarotti, Jennifer;
Herzog, Hillary;
Allred, Peggy;
Miller, Leah;
Doyle, Michael;
Anez‐Bruzual, Isabel;
Trikamji, Bhavesh;
Hyman, Ted;
Kung, Tyler;
Nicholson, Katherine;
Bucelli, Robert C.;
Patterson, Bruce W.;
Bateman, Randall J.;
Miller, Timothy M.

Publication type:

Article

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 1910, doi. 10.1002/acn3.51682

By:

Han, Xiaochen;
Zhan, Feixia;
Yao, Yuxin;
Cao, Li;
Liu, Jianguo;
Yao, Sheng

Publication type:

Article

Clinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2121, doi. 10.1002/acn3.51467

By:

Tsai, Pei‐Chien;
Fuh, Jong‐Ling;
Yang, Chih‐Chao;
Chang, Anna;
Lien, Li‐Ming;
Wang, Pei‐Ning;
Lai, Kuan‐Lin;
Tsai, Yu‐Shuen;
Lee, Yi‐Chung;
Liao, Yi‐Chu

Publication type:

Article