Works about NONSENSE mutation

Results: 1145

Two Novel Protein‐Truncating Variants in NLRP2 and Their Functional Impacts on the Subcortical Maternal Complex.

Published in:

Clinical Genetics, 2025, v. 108, n. 2, p. 179, doi. 10.1111/cge.14718

By:

Yalcin, Zeynep;
Gao, Zheng;
Abdelrazek, Ibrahim M.;
Bareke, Eric;
Majewski, Jacek;
Abdalla, Ebtesam;
Tan, Seang‐Lin;
Li, Lei;
Slim, Rima

Publication type:

Article

Selective Translational Repression of Truncated Proteins from Frameshift Mutation-Derived mRNAs in Tumors.

Published in:

PLoS Biology, 2007, v. 5, n. 5, p. e109, doi. 10.1371/journal.pbio.0050109

By:

Kwon Tae You;
Long Shan Li;
Nam-Gyun Kim;
Hyun Ju Kang;
Kwi Hye Koh;
Yong-Joon Chwae;
Kyoung Mi Kim;
Yoon Ki Kim;
Sung Mi Park;
Sung Key Jang;
Hoguen Kim

Publication type:

Article

Role of VHL-JAK-STAT signaling pathway in central nervous system hemangioblastoma associated with von Hippel-Lindau disease.

Published in:

Journal of Neuro-Oncology, 2020, v. 148, n. 1, p. 29, doi. 10.1007/s11060-020-03506-8

By:

Kanno, Hiroshi;
Yoshizumi, Tetsuya;
Shinonaga, Masamichi;
Kubo, Atsuhiko;
Murata, Hidetoshi;
Yao, Masahiro

Publication type:

Article

Identification of a novel germline SMARCB1 nonsense mutation in a family manifesting both schwannomatosis and unilateral vestibular schwannoma.

Published in:

2015

By:

Wu, Jian;
Kong, Mingxiang;
Bi, Qing

Publication type:

Letter

Dysfunction of Ras-GAP protein AfgapA contributes to hypoxia fitness in Aspergillus fumigatus.

Published in:

Current Genetics, 2022, v. 68, n. 5/6, p. 593, doi. 10.1007/s00294-022-01249-9

By:

Bian, Cai;
Kusuya, Yoko;
Hagiwara, Daisuke;
Ban, Sayaka;
Lu, Yu;
Nagayama, Masaki;
Takahashi, Hiroki

Publication type:

Article

Nonsense codon suppression in fission yeast due to mutations of tRNA and translation release factor Sup35 (eRF3).

Published in:

Current Genetics, 2015, v. 61, n. 2, p. 165, doi. 10.1007/s00294-014-0465-7

By:

Protacio, Reine;
Storey, Aaron;
Davidson, Mari;
Wahls, Wayne

Publication type:

Article

Ultrastructural Analyses of Deciduous Teeth Affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation.

Published in:

Cells Tissues Organs, 2010, v. 191, n. 3, p. 235, doi. 10.1159/000252801

By:

El-Sayed, W.;
Shore, R. C.;
Parry, D. A.;
Inglehearn, C. F.;
Mighell, A. J.

Publication type:

Article

A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality.

Published in:

Cardiology, 2019, v. 144, n. 1/2, p. 53, doi. 10.1159/000502972

By:

Maeda, Yoshichika;
Takasawa, Kei;
Ishii, Taku;
Nagashima, Ayako;
Mouri, Mariko;
Kunieda, Junko;
Morisaki, Hiroko;
Ito, Takashi;
Mori, Masaaki;
Kashimada, Kenichi;
Doi, Shozaburo;
Morio, Tomohiro

Publication type:

Article

Therapeutic Strategies in Duchenne Muscular Dystrophy.

Published in:

European Journal of Translational & Clinical Medicine, 2023, v. 6, p. 17

By:

Śledzińska, Karolina

Publication type:

Article

The MRN complex maintains the biliary-derived hepatocytes in liver regeneration through ATR-Chk1 pathway.

Published in:

NPJ Regenerative Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41536-023-00294-3

By:

Song, Jingmei;
Ma, Jianlong;
Liu, Xing;
Huang, Zhuofu;
Li, Lianghui;
Li, Linke;
Luo, Lingfei;
Ni, Rui;
He, Jianbo

Publication type:

Article

Humerus shape evolved in cetaceans under relaxed selection and random drift.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07952-w

By:

Ghazali, Maria;
Davydenko, Svitozar;
Telizhenko, Valeriia;
Otriazhyi, Pavlo;
Vishnyakova, Karina;
Bukhsianidze, Maia;
Solis-Añorve, Azucena;
Dzeverin, Igor;
Gol'din, Pavel

Publication type:

Article

Multiple mutations in polyketide synthase led to disruption of Psittacofulvin production across diverse parrot species.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07537-7

By:

Ghosh Roy, Shatadru;
Brejcha, Jindřich;
Maršík, Petr;
Bakhrat, Anna;
Abdu, Moty;
Arbore, Roberto;
Araújo, Pedro Miguel;
Afonso, Sandra;
Carneiro, Miguel;
Grossman-Haham, Iris;
Abdu, Uri

Publication type:

Article

大肠杆菌噬菌体抗性菌株与其敏感菌株的比较研究.

Published in:

Chinese Journal of Preventive Veterinary Medicine / Zhongguo Yufang Shouyi Xuebao, 2022, v. 44, n. 2, p. 134, doi. 10.3969/j.issn.1008-0589.202106001

By:

崔嘉琪;
孙蓉蓉;
张灿;
刘文华;
邹玲;
任慧英

Publication type:

Article

Primary Coenzyme Q10 Deficiency-Related Ataxias.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2391, doi. 10.3390/jcm13082391

By:

Lopriore, Piervito;
Vista, Marco;
Tessa, Alessandra;
Giuntini, Martina;
Caldarazzo Ienco, Elena;
Mancuso, Michelangelo;
Siciliano, Gabriele;
Santorelli, Filippo Maria;
Orsucci, Daniele

Publication type:

Article

Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1498, doi. 10.3390/jcm13051498

By:

Eid, Alen T.;
Eid, Kevin Toni;
Odom, James Vernon;
Hinkle, David;
Leys, Monique

Publication type:

Article

Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes.

Published in:

2023

By:

Zhou, Jianying;
Zhang, Hang;
Qin, Yao;
Liu, Ting

Publication type:

Case Study

A Novel Splicing Mutation in the ACVRL1/ALK1 Gene as a Cause of HHT2.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 11, p. 3053, doi. 10.3390/jcm11113053

By:

Errasti Díaz, Suriel;
Peñalva, Mercedes;
Recio-Poveda, Lucía;
Vilches, Susana;
Casado-Vela, Juan;
Pérez Pérez, Julián;
Botella, Luisa María;
Albiñana, Virginia;
Cuesta, Angel M.

Publication type:

Article

Screening Readthrough Compounds to Suppress Nonsense Mutations: Possible Application to β-Thalassemia.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 289, doi. 10.3390/jcm9020289

By:

Borgatti, Monica;
Altamura, Emiliano;
Salvatori, Francesca;
D'Aversa, Elisabetta;
Altamura, Nicola

Publication type:

Article

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 146, doi. 10.3390/jcm9010146

By:

Kataoka, Hiroshi;
Fukuoka, Hinata;
Makabe, Shiho;
Yoshida, Rie;
Teraoka, Atsuko;
Ushio, Yusuke;
Akihisa, Taro;
Manabe, Shun;
Sato, Masayo;
Mitobe, Michihiro;
Tsuchiya, Ken;
Nitta, Kosaku;
Mochizuki, Toshio

Publication type:

Article

An autosomal recessive mutation in PYGM causes myophosphorylase deficiency in composite cattle.

Published in:

Journal of Animal Science, 2024, v. 102, p. 39, doi. 10.1093/jas/skae234.044

By:

Batt, Mackenzie C.;
Venzor, Leila G.;
Gardner, Keri;
Reith, Rachel R.;
Roberts, Kelsey A.;
Herrera, Nicolas J.;
Fuller, Anna M.;
Sullivan, Gary A.;
Mulliniks, Travis;
Spangler, Matthew L.;
Valberg, Stephanie J.;
Steffen, David J.;
Petersen, Jessica L.

Publication type:

Article

Three Pediatric Patients with Congenital Nephrogenic Diabetes Insipidus due to AVPR2 Nonsense Mutations and Different Clinical Manifestations: A Case Report.

Published in:

2023

By:

Watanabe, Hijiri;
Tamura, Hiroshi;
Furuie, Keishiro;
Kuraoka, Shohei;
Nakazato, Hitoshi

Publication type:

Case Study

PAX2 Mutation-Related Oligomeganephronia in a Young Adult Patient.

Published in:

Case Reports in Nephrology & Dialysis, 2020, v. 10, n. 3, p. 163, doi. 10.1159/000510841

By:

Bitó, László;
Kalmár, Tibor;
Maróti, Zoltán;
Turkevi-Nagy, Sándor;
Bereczki, Csaba;
Iványi, Béla

Publication type:

Article

Inhibition of the Phosphatidylinositol-3 Kinase Pathway Using Bimiralisib in Loss-of-Function NOTCH1-Mutant Head and Neck Cancer.

Published in:

Oncologist, 2022, v. 27, n. 12, p. 1004, doi. 10.1093/oncolo/oyac185

By:

Johnson, Faye M;
Janku, Filip;
Gouda, Mohamed A;
Tran, Hai T;
Kawedia, Jitesh D;
Schmitz, Debora;
Streefkerk, Hendrik;
Lee, J Jack;
Andersen, Clark R;
Deng, Defeng;
Rawal, Seema;
Shah, Pooja A;
El-Naggar, Adel K;
Johnson, Jason M;
Frederick, Mitchell J

Publication type:

Article

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.

Published in:

Genetics Research, 2023, v. 2023, p. 1, doi. 10.1155/2023/9999660

By:

Ali, Ghazanfar;
Sadia, Sadia;
Ain-ul- Batool, Syeda;
Azeem, Zahid;
Awan, Naheed Bashir;
Kazmi, Syed Akif Raza;
Ur- Rehman, Zia-;
Anjum, Zeeshan;
Ur- Rehman, Fazal-;
Wali, Abdul;
Khan, Kafaitullah;
Zaman, Nasib;
Ayub, Muhammad;
Sajid, Muhammad;
Hassan, Noor

Publication type:

Article

MLL3 regulates the CDKN2A tumor suppressor locus in liver cancer.

Published in:

eLife, 2023, p. 1, doi. 10.7554/eLife.80854

By:

Changyu Zhu;
Soto-Feliciano, Yadira M.;
Morris, John P.;
Chun-Hao Huang;
Koche, Richard P.;
Yu-jui Ho;
Banito, Ana;
Chun-Wei Chen;
Shroff, Aditya;
Tian, Sha;
Livshits, Geulah;
Chi-Chao Chen;
Fennell, Myles;
Armstrong, Scott A.;
Allis, C. David;
Tschaharganeh, Darjus F.;
Lowe, Scott W.

Publication type:

Article

Molecular dissection of two Pakistani families segregating Leukocyte Adhesion Deficiency Type-I.

Published in:

Journal of University Medical & Dental College, 2022, v. 13, n. 2, p. 367, doi. 10.37723/jumdc.v13i2.684

By:

Majeed, Farzana;
Zaman, Atteaya;
Moazzam, Saadia;
Anwar, Muhammad Zeeshan;
Shahzad, Muhammad Akram;
Iqbal, Momin;
Raza, Syed Irfan

Publication type:

Article

Dnali1 is required for sperm motility and male fertility in mice.

Published in:

Basic & Clinical Andrology, 2023, v. 33, n. 1, p. 1, doi. 10.1186/s12610-023-00205-y

By:

Zhou, Yiling;
Wang, Yaling;
Chen, Jingwen;
Wu, Bangguo;
Tang, Shuyan;
Zhang, Feng;
Liu, Chunyu;
Wang, Lingbo

Publication type:

Article

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep05616

By:

Zhi-Ping Tan;
Li Xie;
Yao Deng;
Jin-Lan Chen;
Wei-Zhi Zhang;
Jian Wang;
Jin-Fu Yang;
Yi-Feng Yang

Publication type:

Article

A Randomized, Double‐Blind, Placebo‐Controlled, Multiple Dose Escalation Study to Evaluate the Safety and Pharmacokinetics of ELX‐02 in Healthy Subjects.

Published in:

Clinical Pharmacology in Drug Development, 2021, v. 10, n. 8, p. 859, doi. 10.1002/cpdd.914

By:

Leubitz, Andi;
Vanhoutte, Frederic;
Hu, Ming‐yi;
Porter, Kaela;
Gordon, Efrat;
Tencer, Kathleen;
Campbell, Kathleen;
Banks, Kate;
Haverty, Tom

Publication type:

Article

Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses of ELX‐02, a Potential Treatment for Genetic Disorders Caused by Nonsense Mutations, in Healthy Volunteers.

Published in:

Clinical Pharmacology in Drug Development, 2019, v. 8, n. 8, p. 984, doi. 10.1002/cpdd.647

By:

Leubitz, Andi;
Frydman‐Marom, Anat;
Sharpe, Neal;
Duzer, John;
Campbell, Kathleen C.M.;
Vanhoutte, Frédéric

Publication type:

Article

Ataluren Pharmacokinetics in Healthy Japanese and Caucasian Subjects.

Published in:

Clinical Pharmacology in Drug Development, 2019, v. 8, n. 2, p. 172, doi. 10.1002/cpdd.645

By:

Kong, Ronald;
Laskin, Oscar L.;
Kaushik, Diksha;
Jin, Fengbin;
Ma, Jiyuan;
McIntosh, Joseph;
Souza, Marcio;
Almstead, Neil

Publication type:

Article

Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy.

Published in:

Animal Genetics, 2021, v. 52, n. 5, p. 714, doi. 10.1111/age.13118

By:

Urkasemsin, G.;
Pongpanich, M.;
Sariya, L.;
Kongcharoen, A.;
Buddhirongawatr, R.;
Rungarunlert, S.;
Ferreira, J. N.;
Chetruengchai, W.;
Phokaew, C.;
Srichomthong, C.;
Shotelersuk, V.

Publication type:

Article

Targeted sequencing reveals candidate causal variants for dairy bull subfertility.

Published in:

Animal Genetics, 2021, v. 52, n. 4, p. 509, doi. 10.1111/age.13089

By:

Abdollahi‐Arpanahi, R.;
Pacheco, H. A.;
Peñagaricano, F.

Publication type:

Article

Three novel nonsense mutations of prolactin receptor found in heat‐tolerant Bos taurus breeds of the Caribbean Basin.

Published in:

Animal Genetics, 2021, v. 52, n. 1, p. 132, doi. 10.1111/age.13027

By:

Flórez Murillo, Julio M.;
Landaeta‐Hernández, Antonio J.;
Kim, Eui‐Soo;
Bostrom, Jonathan R.;
Larson, Sabreena A.;
Pérez O'Brien, Ana M.;
Montero‐Urdaneta, Merilio A.;
Garcia, José F.;
Sonstegard, Tad S.

Publication type:

Article

A novel homozygous nonsense mutation in ITGB4 gene causes epidermolysis bullosa in Mouton Vendéen sheep.

Published in:

Animal Genetics, 2021, v. 52, n. 1, p. 138, doi. 10.1111/age.13026

By:

Fabre, Stéphane;
Chantepie, Louise;
Plisson‐Petit, Florence;
Sarry, Julien;
Woloszyn, Florent;
Genet, Carine;
Drouilhet, Laurence;
Tosser‐Klopp, Gwenola

Publication type:

Article

Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene.

Published in:

Animal Genetics, 2020, v. 51, n. 1, p. 106, doi. 10.1111/age.12877

By:

Mármol‐Sánchez, E.;
Luigi‐Sierra, M.G.;
Quintanilla, R.;
Amills, M.

Publication type:

Article

A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility.

Published in:

Animal Genetics, 2019, v. 50, n. 5, p. 543, doi. 10.1111/age.12825

By:

Jaffey, J. A.;
Bullock, G.;
Teplin, E.;
Guo, J.;
Villani, N. A.;
Mhlanga‐Mutangadura, T.;
Schnabel, R. D.;
Cohn, L. A.;
Johnson, G. S.

Publication type:

Article

Dermatosparaxis in White Dorper sheep: confirmation of a causative nonsense mutation in ADAMTS2.

Published in:

Animal Genetics, 2017, v. 48, n. 6, p. 729, doi. 10.1111/age.12591

By:

Joller, Sara;
Berenguer Veiga, Inês;
Drögemüller, Cord

Publication type:

Article

To pace or not to pace: a pilot study of four- and five-gaited Icelandic horses homozygous for the DMRT3 'Gait Keeper' mutation.

Published in:

Animal Genetics, 2017, v. 48, n. 6, p. 694, doi. 10.1111/age.12610

By:

Jäderkvist Fegraeus, K.;
Hirschberg, I.;
Árnason, T.;
Andersson, L.;
Velie, B. D.;
Andersson, L. S.;
Lindgren, G.

Publication type:

Article

Combinatorial biosynthesis of novel gentamicin derivatives with nonsense mutation readthrough activity and low cytotoxicity.

Published in:

Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2025.1575840

By:

Yang, Lihua;
Zhai, Hang;
Tian, Tingting;
Liu, Botong;
Ni, Xianpu;
Xia, Huanzhang

Publication type:

Article

Complement C1s deficiency in a male Caucasian patient with systemic lupus erythematosus: a case report.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2023.1257525

By:

Kleer, Jessica S.;
Skattum, Lillemor;
Dubler, Denise;
Fischer, Ingeborg;
Zgraggen, Armin;
Mundwiler, Esther;
Min Jeong Kim;
Trendelenburg, Marten

Publication type:

Article

Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1307558

By:

Laffer, Björn;
Lenders, Malte;
Ehlers-Jeske, Elvira;
Heidenreich, Karin;
Brand, Eva;
Köhl, Jörg

Publication type:

Article

Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1306338

By:

Lin-Yan Hu;
Lin Wan;
Qiu-Hong Wang;
Xiu-Yu Shi;
Yan Meng;
Xiao-Fan Yang;
Guang Yang;
Li-Ping Zou

Publication type:

Article

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.

Published in:

Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1252765

By:

Chai Teng Chear;
Ismail, Intan Hakimah;
Kwai Cheng Chan;
Noh, Lokman Mohd;
Kassim, Asiah;
Latiff, Amir Hamzah Abdul;
Gill, Sandeep Singh;
Ramly, Nazatul Haslina;
Kah Kee Tan;
Sundaraj, Charlotte;
Chong Ming Choo;
Mohamed, Sharifah Adlena Syed;
Baharin, Mohd Farid;
Zamri, Amelia Suhana;
Syed Yahya, Sharifah Nurul Husna;
Bin Mohamad, Saharuddin;
Ripen, Adiratna Mat

Publication type:

Article

FANCA Gene Mutations in North African Fanconi Anemia Patients.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.610050

By:

Ben Haj Ali, Abir;
Messaoud, Olfa;
Elouej, Sahar;
Talmoudi, Faten;
Ayed, Wiem;
Mellouli, Fethi;
Ouederni, Monia;
Hadiji, Sondes;
De Sandre-Giovannoli, Annachiara;
Delague, Valérie;
Lévy, Nicolas;
Bogliolo, Massimo;
Surrallés, Jordi;
Abdelhak, Sonia;
Amouri, Ahlem

Publication type:

Article

A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00755

By:

Wang, Chen-Yu;
Chen, Ya-Qin;
Jin, Jie-Yuan;
Du, Ran;
Fan, Liang-Liang;
Xiang, Rong

Publication type:

Article

Progress in the Enzymology of the Mitochondrial Diseases of Lipoic Acid Requiring Enzymes.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00510

By:

Cronan, John E.

Publication type:

Article

46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2019.01350

By:

Deng, Jianlian;
Zhang, Haoqing;
Li, Caiyun;
Huang, Hui;
Liu, Saijun;
Yang, Huanming;
Xie, Kaili;
Wang, Qiong;
Lei, Dongzhu;
Wu, Jing

Publication type:

Article

Genetic Characterization of the Factor VIII Gene in a Cohort of Colombian Patients with Severe Hemophilia A with Inhibitors.

Published in:

Hematology Reports, 2022, v. 14, n. 2, p. 149, doi. 10.3390/hematolrep14020022

By:

Doncel, Samuel Sarmiento;
Diaz Mosquera, Gina Alejandra;
Pelaez, Ronald Guillermo;
Cortes, Javier Mauricio;
Rico, Carol Agudelo;
Cadavid, Francisco Javier Meza;
Plazas, Nelson Ramirez;
Amar, Ivan Alfredo Perdomo;
Peña Siado, Jorge Enrique;
Rey, Fabian Andres Parrado;
Alberto Montaño, Cesar;
Villadiego, Alexys Maza

Publication type:

Article

Identification of a nonsense mutation in feline ABCB1.

Published in:

Journal of Veterinary Pharmacology & Therapeutics, 2015, v. 38, n. 5, p. 429, doi. 10.1111/jvp.12212

By:

Mealey, K. L.;
Burke, N. S.

Publication type:

Article