Works about GAIN-of-function mutations

Results: 981

A gain-of-function positive-selection expression plasmid that enables high-efficiency cloning.

Published in:

Biotechnology Letters, 2015, v. 37, n. 2, p. 383, doi. 10.1007/s10529-014-1673-4

By:

Prosser, Gareth;
Williams, Elsie;
Sissons, Jack;
Walmsley, Katherine;
Parker, Madeleine;
Ackerley, David

Publication type:

Article

STAT5b gain-of-function disease in a child with mycobacterial osteomyelitis of the skull: rare presentation of an emerging disease entity.

Published in:

Child's Nervous System, 2023, v. 39, n. 8, p. 2071, doi. 10.1007/s00381-023-05997-y

By:

Kobets, Andrew J.;
Ahmad, Samuel;
Boyke, Andre;
Oriko, David;
Holland, Ryan;
Eisenberg, Rachel;
Alavi, Seyed Ahmad Naseri;
Abbott, Rick

Publication type:

Article

Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement.

Published in:

Child's Nervous System, 2015, v. 31, n. 1, p. 129, doi. 10.1007/s00381-014-2559-4

By:

Bosemani, Thangamadhan;
Orman, Gunes;
Hergan, Benedikt;
Carson, Kathryn;
Huisman, Thierry;
Poretti, Andrea

Publication type:

Article

Role of senataxin in R-loop-mediated neurodegeneration.

Published in:

Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae239

By:

Kannan, Annapoorna;
Leela, Shyni Gangadharan;
Branzei, Dana;
Gangwani, Laxman

Publication type:

Article

SRC-RAC1 signaling drives drug resistance to BRAF inhibition in de-differentiated cutaneous melanomas.

Published in:

NPJ Precision Oncology, 2022, v. 6, n. 1, p. 1, doi. 10.1038/s41698-022-00310-7

By:

Zhu, Eliot Y.;
Riordan, Jesse D.;
Vanneste, Marion;
Henry, Michael D.;
Stipp, Christopher S.;
Dupuy, Adam J.

Publication type:

Article

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac042

By:

Elston, Marianne S;
Elajnaf, Taha;
Hannan, Fadil M;
Thakker, Rajesh V

Publication type:

Article

Comparative analysis of the molecular and physiological consequences of constitutive SKN-1 activation.

Published in:

GeroScience, 2023, v. 45, n. 6, p. 3359, doi. 10.1007/s11357-023-00937-9

By:

Ramos, Carmen M.;
Curran, Sean P.

Publication type:

Article

The musculoskeletal system diseases in pregnant women with high infection risk and the single nucleotide rs1544410 polymorphism of the calcitriol receptor gene.

Published in:

Bol Sustavy Pozvonochnik, 2023, v. 13, n. 1, p. 23, doi. 10.22141/pjs.13.1.2023.354

By:

Manasova, G. S.;
Didenkul, N. V.;
Zhovtenko, O. V.;
Derishov, S. V.;
Chumak, Z. V.

Publication type:

Article

Initial alpha-1 antitrypsin screening in Turkish patients with chronic obstructive pulmonary disease.

Published in:

Turkish Journal of Medical Sciences, 2023, v. 53, n. 4, p. 1012, doi. 10.55730/1300-0144.5665

By:

ÖNÜR, Seda Tural

Publication type:

Article

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review.

Published in:

Turkish Journal of Medical Sciences, 2020, v. 50, p. 1591, doi. 10.3906/sag-2008-11

By:

TUFAN, Abdurrahman;
LACHMANN, Helen J.

Publication type:

Article

The metabolic reprogramming and vulnerability of SF3B1 mutations.

Published in:

Molecular & Cellular Oncology, 2020, v. 7, n. 3, p. 1, doi. 10.1080/23723556.2019.1697619

By:

Dalton, W. Brian

Publication type:

Article

TCM informatics and phenomics: genetic mutation of symptoms and biological basis of TCM patterns.

Published in:

Journal of Beijing University of Traditional Chinese Medicine, 2022, n. 2, p. 140, doi. 10.3969/j.issn.1006-2157.2022.02.007

By:

ZUO Ling;
CHEN Jianxin;
WANG Wei;
WANG Sijia;
ZHANG Kunlin

Publication type:

Article

Gain-of-Function Research: Ethical Analysis.

Published in:

Science & Engineering Ethics, 2016, v. 22, n. 4, p. 923, doi. 10.1007/s11948-016-9810-1

By:

Selgelid, Michael

Publication type:

Article

The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adults.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.89967

By:

Nakhe, Arya Y.;
Dadi, Prasanna K.;
Jinsun Kim;
Dickerson, Matthew T.;
Behera, Soma;
Dobson, Jordyn R.;
Shrestha, Shristi;
Cartailler, Jean-Philippe;
Sampson, Leesa;
Magnuson, Mark A.;
Jacobson, David A.

Publication type:

Article

Pain triangle phenomenon in possible association with SCN9A: A case report.

Published in:

2022

By:

Sopacua, Maurice;
Hoeijmakers, Janneke G. J.;
van der Kooi, Anneke J.;
Merkies, Ingemar S. J.;
Faber, Catharina G.

Publication type:

Case Study

Gain‐of‐function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1587

By:

Sekula, Raymond F.;
Deeley, Kathleen;
Denwood, Hayley;
Vieira, Alexandre R.

Publication type:

Article

Fam83h null mice support a neomorphic mechanism for human ADHCAI.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 46, doi. 10.1002/mgg3.178

By:

Wang, Shih‐Kai;
Hu, Yuanyuan;
Yang, Jie;
Smith, Charles E.;
Richardson, Amelia S;
Yamakoshi, Yasuo;
Lee, Yuan‐Ling;
Seymen, Figen;
Koruyucu, Mine;
Gencay, Koray;
Lee, Moses;
Choi, Murim;
Kim, Jung‐Wook;
Hu, Jan C‐C.;
Simmer, James P.

Publication type:

Article

Missense mutations in spike protein of SARS‐CoV‐2 delta variant contribute to the alteration in viral structure and interaction with hACE2 receptor.

Published in:

Immunity, Inflammation & Disease, 2022, v. 10, n. 9, p. 1, doi. 10.1002/iid3.683

By:

Mahmood, Tousif Bin;
Hossan, Mohammad Imran;
Mahmud, Shafi;
Shimu, Mst. Sharmin Sultana;
Alam, Md. Jahidul;
Bhuyan, Md. Mahfuzur Rahman;
Emran, Talha Bin

Publication type:

Article

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.

Published in:

Experimental Dermatology, 2019, v. 28, n. 10, p. 1106, doi. 10.1111/exd.13542

By:

Easton, Jennifer A.;
Albuloushi, Ahmad K.;
Kamps, Miriam A. F.;
Brouns, Gladys H. M. R.;
Broers, Jos L. V.;
Coull, Barry J.;
Oji, Vincent;
van Geel, Michel;
van Steensel, Maurice A. M.;
Martin, Patricia E.

Publication type:

Article

Clinical Snippets.

Published in:: Experimental Dermatology, 2019, v. 28, n. 1, p. i, doi. 10.1111/exd.13866
Publication type:: Article

Increase in NRAS mutant allele percentage during metastatic melanoma progression.

Published in:

2016

By:

Funck‐Brentano, Elisa;
Hélias‐Rodzewicz, Zofia;
Longvert, Christine;
Mokhtari, Karima;
Saiag, Philippe;
Emile, Jean‐François

Publication type:

Other

Endogenous chondroitin extends the lifespan and healthspan in C. elegans.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55417-7

By:

Shibata, Yukimasa;
Tanaka, Yuri;
Sasakura, Hiroyuki;
Morioka, Yuki;
Sassa, Toshihiro;
Fujii, Shion;
Mitsuzumi, Kaito;
Ikeno, Masashi;
Kubota, Yukihiko;
Kimura, Kenji;
Toyoda, Hidenao;
Takeuchi, Kosei;
Nishiwaki, Kiyoji

Publication type:

Article

Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53588-x

By:

Hussain, Rashid;
Lim, Chiao Xin;
Shaukat, Zeeshan;
Islam, Anowarul;
Caseley, Emily A.;
Lippiat, Jonathan D.;
Rychkov, Grigori Y.;
Ricos, Michael G.;
Dibbens, Leanne M.

Publication type:

Article

Mutational landscape of cancer-driver genes across human cancers.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-39608-2

By:

Sinkala, Musalula

Publication type:

Article

Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K<sup>+</sup> channel subunits in cancers: role in drug-disease interactions.

Published in:

Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1115543

By:

Maqoud, Fatima;
Zizzo, Nicola;
Attimonelli, Marcella;
Tinelli, Antonella;
Passantino, Giuseppe;
Antonacci, Marina;
Ranieri, Girolamo;
Tricarico, Domenico

Publication type:

Article

Differential effects of ELX/TEZ/IVA on organ-specific CFTR function in two patients with the rare CFTR splice mutations c.273+1G>A and c.165-2A>G.

Published in:

Frontiers in Pharmacology, 2023, v. 14, p. 1, doi. 10.3389/fphar.2023.1153656

By:

Pallenberg, Sophia T.;
Held, Inka;
Dopfer, Christian;
Minso, Rebecca;
Nietert, Manuel M.;
Hansen, Gesine;
Tümmler, Burkhard;
Dittrich, Anna-Maria

Publication type:

Article

Development in Detection Methods for the Expression of Surface-Displayed Proteins.

Published in:

Frontiers in Microbiology, 2022, v. 13, p. 1, doi. 10.3389/fmicb.2022.899578

By:

Ma, Chenglong;
Jiang, Chunyang;
Zhao, Dongping;
Li, Shuhao;
Li, Ronggui;
Li, Lei

Publication type:

Article

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Published in:

Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01433

By:

Zimmerman, Ofer;
Olbrich, Peter;
Freeman, Alexandra F.;
Rosen, Lindsey B.;
Uzel, Gulbu;
Zerbe, Christa S.;
Rosenzweig, Sergio D.;
Kuehn, Hye Sun;
Holmes, Kevin L.;
Stephany, David;
Ding, Li;
Sampaio, Elizabeth P.;
Hsu, Amy P.;
Holland, Steven M.

Publication type:

Article

Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02172

By:

Jhamnani, Rekha D.;
Nunes-Santos, Cristiane J.;
Bergerson, Jenna;
Rosenzweig, Sergio D.

Publication type:

Article

Novel gain‐of‐function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree.

Published in:

Nephrology, 2021, v. 26, n. 12, p. 1018, doi. 10.1111/nep.13963

By:

Liu, Zhiying;
Zhang, Haiyan;
Zhao, Shipeng;
Zhang, Qian;
Zhang, Ruixiao;
Han, Yue;
Shao, Leping;
Zhao, Xiangzhong

Publication type:

Article

The Thyrotropin Receptor Mutation Database Update.

Published in:

Thyroid, 2020, v. 30, n. 6, p. 931, doi. 10.1089/thy.2019.0807

By:

Stephenson, Alexandra;
Lau, Lorraine;
Eszlinger, Markus;
Paschke, Ralf

Publication type:

Article

Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.

Published in:

Thyroid, 2020, v. 30, n. 4, p. 640, doi. 10.1089/thy.2019.0471

By:

França, Monica M.;
Levine, Robert L.;
Pappa, Theodora;
Ilaka-Chibuluzo, Sandra;
Rothberger, Gary D.;
Dumitrescu, Alexandra M.;
Refetoff, Samuel

Publication type:

Article

Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-44990-0

By:

Molina-López, Cristina;
Hurtado-Navarro, Laura;
García, Carlos J.;
Angosto-Bazarra, Diego;
Vallejo, Fernando;
Tapia-Abellán, Ana;
Marques-Soares, Joana R.;
Vargas, Carmen;
Bujan-Rivas, Segundo;
Tomás-Barberán, Francisco A.;
Arostegui, Juan I.;
Pelegrin, Pablo

Publication type:

Article

Multiple independent losses of the biosynthetic pathway for two tropane alkaloids in the Solanaceae family.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-44246-3

By:

Yang, Jiao;
Wu, Ying;
Zhang, Pan;
Ma, Jianxiang;
Yao, Ying Jun;
Ma, Yan Lin;
Zhang, Lei;
Yang, Yongzhi;
Zhao, Changmin;
Wu, Jihua;
Fang, Xiangwen;
Liu, Jianquan

Publication type:

Article

Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-43475-w

By:

Sampedro-Castañeda, Marisol;
Baltussen, Lucas L.;
Lopes, André T.;
Qiu, Yichen;
Sirvio, Liina;
Mihaylov, Simeon R.;
Claxton, Suzanne;
Richardson, Jill C.;
Lignani, Gabriele;
Ultanir, Sila K.

Publication type:

Article

Mechanism of outer membrane destabilization by global reduction of protein content.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40396-6

By:

Mikheyeva, Irina V.;
Sun, Jiawei;
Huang, Kerwyn Casey;
Silhavy, Thomas J.

Publication type:

Article

Structural basis of HIV-1 Vif-mediated E3 ligase targeting of host APOBEC3H.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40955-x

By:

Ito, Fumiaki;
Alvarez-Cabrera, Ana L.;
Kim, Kyumin;
Zhou, Z. Hong;
Chen, Xiaojiang S.

Publication type:

Article

Context-defined cancer co-dependency mapping identifies a functional interplay between PRC2 and MLL-MEN1 complex in lymphoma.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39990-5

By:

Chen, Xiao;
Li, Yinglu;
Zhu, Fang;
Xu, Xinjing;
Estrella, Brian;
Pazos II, Manuel A.;
McGuire, John T.;
Karagiannis, Dimitris;
Sahu, Varun;
Mustafokulov, Mustafo;
Scuoppo, Claudio;
Sánchez-Rivera, Francisco J.;
Soto-Feliciano, Yadira M.;
Pasqualucci, Laura;
Ciccia, Alberto;
Amengual, Jennifer E.;
Lu, Chao

Publication type:

Article

TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39345-0

By:

Kwon, Do Hoon;
Zhang, Feng;
McCray, Brett A.;
Feng, Shasha;
Kumar, Meha;
Sullivan, Jeremy M.;
Im, Wonpil;
Sumner, Charlotte J.;
Lee, Seok-Yong

Publication type:

Article

Structural mechanisms of TRPM7 activation and inhibition.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38362-3

By:

Nadezhdin, Kirill D.;
Correia, Leonor;
Narangoda, Chamali;
Patel, Dhilon S.;
Neuberger, Arthur;
Gudermann, Thomas;
Kurnikova, Maria G.;
Chubanov, Vladimir;
Sobolevsky, Alexander I.

Publication type:

Article

Translational Advances in Oncogene and Tumor-Suppressor Gene Research.

Published in:

Cancers, 2025, v. 17, n. 6, p. 1008, doi. 10.3390/cancers17061008

By:

Stojchevski, Radoslav;
Sutanto, Edward Agus;
Sutanto, Rinni;
Hadzi-Petrushev, Nikola;
Mladenov, Mitko;
Singh, Sajal Raj;
Sinha, Jitendra Kumar;
Ghosh, Shampa;
Yarlagadda, Bhuvaneshwar;
Singh, Krishna Kumar;
Verma, Prashant;
Sengupta, Sonali;
Bhaskar, Rakesh;
Avtanski, Dimiter

Publication type:

Article

TPC2: From Blond Hair to Melanoma?

Published in:

Cancers, 2024, v. 16, n. 23, p. 4065, doi. 10.3390/cancers16234065

By:

Abrahamian, Carla;
Ouologuem, Lina;
Tang, Rachel;
Fröhlich, Thomas;
Bartel, Karin;
Grimm, Christian

Publication type:

Article

The Acquisition of Complement-Dependent Cytotoxicity by the Type II Anti-CD20 Therapeutic Antibody Obinutuzumab.

Published in:

Cancers, 2024, v. 16, n. 1, p. 49, doi. 10.3390/cancers16010049

By:

Kuźniewska, Alicja;
Majeranowski, Alan;
Henry, Sara;
Kowalska, Daria;
Stasiłojć, Grzegorz;
Urban, Aleksandra;
Zaucha, Jan M.;
Okrój, Marcin

Publication type:

Article

Sidedness-Dependent Prognostic Impact of Gene Alterations in Metastatic Colorectal Cancer in the Nationwide Cancer Genome Screening Project in Japan (SCRUM-Japan GI-SCREEN).

Published in:

Cancers, 2023, v. 15, n. 21, p. 5172, doi. 10.3390/cancers15215172

By:

Kajiwara, Takeshi;
Nishina, Tomohiro;
Yamashita, Riu;
Nakamura, Yoshiaki;
Shiozawa, Manabu;
Yuki, Satoshi;
Taniguchi, Hiroya;
Hara, Hiroki;
Ohta, Takashi;
Esaki, Taito;
Shinozaki, Eiji;
Takashima, Atsuo;
Yamamoto, Yoshiyuki;
Yamazaki, Kentaro;
Yoshino, Takayuki;
Hyodo, Ichinosuke

Publication type:

Article

Adefovir Dipivoxil as a Therapeutic Candidate for Medullary Thyroid Carcinoma: Targeting RET and STAT3 Proto-Oncogenes.

Published in:

Cancers, 2023, v. 15, n. 7, p. 2163, doi. 10.3390/cancers15072163

By:

Alqahtani, Tariq;
Kumarasamy, Vishnu;
Alghamdi, Sahar Saleh;
Suliman, Rasha Saad;
Bin Saleh, Khalid;
Alrashed, Mohammed A.;
Aldhaeefi, Mohammed;
Sun, Daekyu

Publication type:

Article

In Vivo Application of CRISPR/Cas9 Revealed Implication of Foxa1 and Foxp1 in Prostate Cancer Proliferation and Epithelial Plasticity.

Published in:

Cancers, 2022, v. 14, n. 18, p. N.PAG, doi. 10.3390/cancers14184381

By:

Cai, Huiqiang;
Agersnap, Simon N.;
Sjøgren, Amalie;
Simonsen, Mikkel K.;
Blaavand, Mathilde S.;
Jensen, Ulrikke V.;
Thomsen, Martin K.

Publication type:

Article

Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma.

Published in:

Cancers, 2022, v. 14, n. 2, p. 421, doi. 10.3390/cancers14020421

By:

Alaña, Lide;
Nunes-Xavier, Caroline E.;
Zaldumbide, Laura;
Martin-Guerrero, Idoia;
Mosteiro, Lorena;
Alba-Pavón, Piedad;
Villate, Olatz;
García-Obregón, Susana;
González-García, Hermenegildo;
Herraiz, Raquel;
Astigarraga, Itziar;
Pulido, Rafael;
García-Ariza, Miguel

Publication type:

Article

TYK2: An Upstream Kinase of STATs in Cancer.

Published in:

Cancers, 2019, v. 11, n. 11, p. 1728, doi. 10.3390/cancers11111728

By:

Wöss, Katharina;
Simonović, Natalija;
Strobl, Birgit;
Macho-Maschler, Sabine;
Müller, Mathias

Publication type:

Article

The DEP1 Mutation Improves Stem Lodging Resistance and Biomass Saccharification by Affecting Cell Wall Biosynthesis in Rice.

Published in:

Rice (19398425), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12284-024-00712-0

By:

Wang, Ye;
Wang, Meihan;
Yan, Xia;
Chen, Kaixuan;
Tian, Fuhao;
Yang, Xiao;
Cao, Liyu;
Ruan, Nan;
Dang, Zhengjun;
Yin, Xuelin;
Huang, Yuwei;
Li, Fengcheng;
Xu, Quan

Publication type:

Article

Gain of Function: Experimental Applications Relating to Potentially Pandemic Pathogens.

Published in:: Jahrbuch für Wissenschaft und Ethik, 2017, v. 22, n. 1, p. 395, doi. 10.1515/jwiet-2017-0017
Publication type:: Article