Works matching DE "GAIN-of-function mutations"

Results: 993

CTNNB1 syndrome mouse models.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 390, doi. 10.1007/s00335-025-10105-3

By:

Lainšček, Duško;
Forstnerič, Vida;
Miroševič, Špela

Publication type:

Article

Precision targeting of β-catenin induces tumor reprogramming and immunity in hepatocellular cancers.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60457-2

By:

Lehrich, Brandon M.;
Delgado, Evan R.;
Yasaka, Tyler M.;
Liu, Silvia;
Cao, Catherine;
Liu, Yuqing;
Taheri, Mohammad N.;
Guan, Xiangnan;
Koeppen, Hartmut;
Singh, Sucha;
Meadows, Vik;
Liu, Jia-Jun;
Singh-Varma, Anya;
Krutsenko, Yekaterina;
Poddar, Minakshi;
Hitchens, T. Kevin;
Foley, Lesley M.;
Liang, Binyong;
Rialdi, Alex;
Rai, Ravi P.

Publication type:

Article

The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations.

Published in:

2025

By:

Kaufmann, Lukas;
Beichler, Christine;
Blatterer, Jasmin;
Janisch, Ingrid;
Csapó, Bence;
Schreiner, Elisabeth;
Verheyen, Sarah;
Geigl, Jochen B.;
Windpassinger, Christian

Publication type:

Case Study

An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 2, p. 270, doi. 10.1093/jbmr/zjae199

By:

Benson, Matthew R;
Wyatt, Rachael A;
Levine, Michael A;
Gorvin, Caroline M

Publication type:

Article

A Canine c-kit Novel Mutation Isolated from a Gastrointestinal Stromal Tumor (GIST) Retains the Ability to Form Dimers but Lacks Autophosphorylation.

Published in:

Animals (2076-2615), 2025, v. 15, n. 10, p. 1444, doi. 10.3390/ani15101444

By:

Shimakawa, Kei;
Doge, So;
Michishita, Masaki;
Tanabe, Eri;
Tajima, Tsuyoshi;
Kobayashi, Masato;
Bonkobara, Makoto;
Watanabe, Masami;
Ochiai, Kazuhiko;
Tanaka, Yoshikazu

Publication type:

Article

Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.

Published in:

Neurology India, 2023, v. 71, n. 6, p. 1307, doi. 10.4103/0028-3886.391362

By:

Bhattacharjee, Shakya;
Paramanandam, Vijayshankar

Publication type:

Article

A Novel Mutation in an MNGIE Patient Presenting with More Prominent Neurological Symptoms than GI Symptoms.

Published in:

Neurology India, 2023, v. 71, n. 2, p. 323, doi. 10.4103/0028-3886.375429

By:

Xiaoyan Chen;
Xiaoyi Xiong;
Shu Liu;
Chunmei Duan;
Rui Xu;
Qingwu Yang

Publication type:

Article

Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.

Published in:

Mycopathologia, 2023, v. 188, n. 1/2, p. 87, doi. 10.1007/s11046-022-00685-y

By:

Wang, Xu;
Zhao, Weiwei;
Chen, Feng;
Zhou, Peiru;
Yan, Zhimin

Publication type:

Article

Development of activation-tagged gain-of-functional mutants in indica rice line (BPT 5204) for sheath blight resistance.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-09194-7

By:

Gandikota, Mahendranath;
Krishnakanth Yadav, T.;
Maram, Raghurami Reddy;
Kalluru, Sudhamani;
Sena, M. Balachandran;
Siddiq, E. A.;
kalinati Narasimhan, Yamini;
Vemireddy, Lakshminarayana R.;
Ghanta, Anuradha

Publication type:

Article

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.

Published in:

Osteoporosis International, 2024, v. 35, n. 8, p. 1395, doi. 10.1007/s00198-024-07080-x

By:

Ren, Na;
Lv, Shanshan;
Li, Xiang;
Shao, Chong;
Wang, Ziyuan;
Mei, Yazhao;
Yang, Wendi;
Fu, Wenzhen;
Hu, Yunqiu;
Sha, Ling;
Hu, Weiwei;
Zhang, Zhenlin;
Wang, Chun

Publication type:

Article

Single-residue mutation in protein kinase C toggles between cancer and neurodegeneration.

Published in:

Biochemical Journal, 2023, v. 480, n. 16, p. 1299, doi. 10.1042/BCJ20220397

By:

Jones, Alexander C.;
Kornev, Alexandr P.;
Jui-Hung Weng;
Manning, Gerard;
Taylor, Susan S.;
Newton, Alexandra C.

Publication type:

Article

PINK1-dependent phosphorylation of Serine111 within the SF3 motif of Rab GTPases impairs effector interactions and LRRK2-mediated phosphorylation at Threonine72.

Published in:

Biochemical Journal, 2020, v. 477, n. 9, p. 1651, doi. 10.1042/BCJ20190664

By:

Vieweg, Sophie;
Mulholland, Katie;
Bräuning, Bastian;
Kachariya, Nitin;
Yu-Chiang Lai;
Toth, Rachel;
Singh, Pawan Kishor;
Volpi, Ilaria;
Sattler, Michael;
Groll, Michael;
Itzen, Aymelt;
Muqit, Miratul M. K.

Publication type:

Article

SegAnnDB: interactive Web-based genomic segmentation.

Published in:

Bioinformatics, 2014, v. 30, n. 11, p. 1539, doi. 10.1093/bioinformatics/btu072

By:

Hocking, Toby D.;
Boeva, Valentina;
Rigaill, Guillem;
Schleiermacher, Gudrun;
Janoueix-Lerosey, Isabelle;
Delattre, Olivier;
Richer, Wilfrid;
Bourdeaut, Franck;
Suguro, Miyuki;
Seto, Masao;
Bach, Francis;
Vert, Jean-Philippe

Publication type:

Article

Treatment of IDH-mutant glioma in the INDIGO era.

Published in:

NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00646-2

By:

Lin, Mathew D.;
Tsai, Alexander C.-Y.;
Abdullah, Kalil G.;
McBrayer, Samuel K.;
Shi, Diana D.

Publication type:

Article

TP53 gain-of-function mutations promote osimertinib resistance via TNF-α–NF-κB signaling in EGFR-mutated lung cancer.

Published in:

NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00557-2

By:

Ibusuki, Ritsu;
Iwama, Eiji;
Shimauchi, Atsushi;
Tsutsumi, Hirono;
Yoneshima, Yasuto;
Tanaka, Kentaro;
Okamoto, Isamu

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

SEPT14 Mutations and Teratozoospermia: Genetic Effects on Sperm Head Morphology and DNA Integrity.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1297, doi. 10.3390/jcm8091297

By:

Wang, Ya-Yun;
Lai, Tsung-Hsuan;
Chen, Mei-Feng;
Lee, Hui-Ling;
Kuo, Pao-Lin;
Lin, Ying-Hung

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

Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations.

Published in:

2024

By:

Barış, Safa;
Chatila, Talal A.

Publication type:

Case Study

STAT1/STAT3 Gain of Function and Mechanisms of Immune Dysregulation.

Published in:

Turkish Journal of Immunology, 2024, v. 12, p. 47, doi. 10.4274/tji.galenos.2023.52386

By:

Kıykım, Ayça

Publication type:

Article

KCNQ2‐DEE: developmental or epileptic encephalopathy?

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 666, doi. 10.1002/acn3.51316

By:

Berg, Anne T.;
Mahida, Sonal;
Poduri, Annapurna

Publication type:

Article

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2384, doi. 10.1002/acn3.50930

By:

Naumann, Marcel;
Peikert, Kevin;
Günther, Rene;
Kooi, Anneke J.;
Aronica, Eleonora;
Hübers, Annemarie;
Danel, Veronique;
Corcia, Philippe;
Pan‐Montojo, Francisco;
Cirak, Sebahattin;
Haliloglu, Göknur;
Ludolph, Albert C.;
Goswami, Anand;
Andersen, Peter M.;
Prudlo, Johannes;
Wegner, Florian;
Van Damme, Philip;
Weishaupt, Jochen H.;
Hermann, Andreas

Publication type:

Article

Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 2066, doi. 10.1002/acn3.50902

By:

Shen, Xin‐Ming;
Milone, Margherita;
Wang, Hang‐Long;
Banwell, Brenda;
Selcen, Duygu;
Sine, Steven M.;
Engel, Andrew G.

Publication type:

Article

Spatiotemporal formation of the large vacuole regulated by the BIN2-VLG module is required for female gametophyte development in Arabidopsis.

Published in:

Plant Cell, 2023, v. 35, n. 4, p. 1241, doi. 10.1093/plcell/koad007

By:

Hu, Li-Qin;
Yu, Shi-Xia;
Xu, Wan-Yue;
Zu, Song-Hao;
Jiang, Yu-Tong;
Shi, Hao-Tian;
Zhang, Yan-Jie;
Xue, Hong-Wei;
Wang, Ying-Xiang;
Lin, Wen-Hui

Publication type:

Article

Dt2 Is a Gain-of-Function MADS-Domain Factor Gene That Specifies Semideterminacy in Soybean.

Published in:

Plant Cell, 2014, v. 26, n. 7, p. 2831, doi. 10.1105/tpc.114.126938

By:

Ping, Jieqing;
Liu, Yunfeng;
Sun, Lianjun;
Zhao, Meixia;
Li, Yinghui;
She, Maoyun;
Sui, Yi;
Lin, Feng;
Liu, Xiaodong;
Tang, Zongxiang;
Nguyen, Hanh;
Tian, Zhixi;
Qiu, Lijuan;
Nelson, Randall L.;
Clemente, Thomas E.;
Specht, James E.;
Ma, Jianxin

Publication type:

Article

Dominant Point Mutation in a RINGv E3 Ubiquitin Ligase Homoeologous Gene Leads to Cleistogamy in Brassica napus.

Published in:

Plant Cell, 2012, v. 24, n. 12, p. 4875, doi. 10.1105/tpc.112.104315

By:

Lu, Yun-Hai;
Arnaud, Dominique;
Belcram, Harry;
Falentin, Cyril;
Rouault, Patricia;
Piel, Nathalie;
Lucas, Marie-Odile;
Just, Jérémy;
Renard, Michel;
Delourme, Régine;
Chalhoub, Boulos

Publication type:

Article

Rhizobial and Fungal Symbioses Show Different Requirements for Calmodulin Binding to Calcium Calmodulin–Dependent Protein Kinase in Lotus japonicus.

Published in:

Plant Cell, 2012, v. 24, n. 1, p. 304, doi. 10.1105/tpc.111.092197

By:

Shimoda, Yoshikazu;
Han, Lu;
Yamazaki, Toshimasa;
Suzuki, Rintaro;
Hayashi, Makoto;
Imaizumi-Anraku, Haruko

Publication type:

Article

Gain-of-Function Mutation of Arabidopsis Lipid Transfer Protein 5 Disturbs Pollen Tube Tip Growth and Fertilization.

Published in:

Plant Cell, 2009, v. 21, n. 12, p. 3902, doi. 10.1105/tpc.109.070854

By:

Chae, Keun;
Kieslich, Chris A.;
Morikis, Dimitrios;
Kim, Seung-Chul;
Lord, Elizabeth M.

Publication type:

Article

Dysautonomia and response to guanfacine in individuals with an SCN9A variant.

Published in:

Clinical Autonomic Research, 2024, v. 34, n. 2, p. 303, doi. 10.1007/s10286-024-01029-0

By:

Palma, Jose-Alberto

Publication type:

Article

Gene X Two Triple Mutations Predominance on Chronic Hepatitis B Virus in Padang, West Sumatra, Indonesia.

Published in:

Indonesian Journal of Gastroenterology, Hepatology & Digestive Endoscopy, 2022, v. 23, n. 2, p. 106, doi. 10.24871/2322022206-211

By:

Ave, Afida Razuna;
Putra, Andani Eka;
Miro, Saptino

Publication type:

Article

Analysis of copy number variation in men with non‐obstructive azoospermia.

Published in:

Andrology, 2022, v. 10, n. 8, p. 1593, doi. 10.1111/andr.13267

By:

Wyrwoll, M. J.;
Wabschke, R.;
Röpke, A.;
Wöste, M.;
Ruckert, C.;
Perrey, S.;
Rotte, N.;
Hardy, J.;
Astica, L.;
Lupiáñez, D. G.;
Wistuba, J.;
Westernströer, B.;
Schlatt, S.;
Berman, A. J.;
Müller, A. M.;
Kliesch, S.;
Yatsenko, A. N.;
Tüttelmann, F.;
Friedrich, C.

Publication type:

Article

Immunodeficiency and disorders of immune dysregulation.

Published in:

Pediatric Allergy & Immunology, 2020, v. 31, p. 8, doi. 10.1111/pai.13163

By:

Delmonte, Ottavia Maria

Publication type:

Article

Novel STAT1 gain-of-function mutation and suppurative infections.

Published in:

Pediatric Allergy & Immunology, 2016, v. 27, n. 2, p. 220, doi. 10.1111/pai.12496

By:

Giardino, Giuliana;
Somma, Domenico;
Cirillo, Emilia;
Ruggiero, Giuseppina;
Terrazzano, Giuseppe;
Rubino, Valentina;
Ursini, Matilde Valeria;
Vairo, Donatella;
Badolato, Raffaele;
Carsetti, Rita;
Leonardi, Antonio;
Puel, Anne;
Pignata, Claudio

Publication type:

Article

The effect of amyotrophic lateral sclerosis-linked exogenous SOD1-G93A on electrophysiological properties and intracellular calcium in cultured rat astrocytes.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016, v. 17, n. 5/6, p. 443, doi. 10.3109/21678421.2016.1143516

By:

Milošević, Milena;
Bataveljić, Danijela;
Nikolić, Ljiljana;
Bijelić, Dunja;
Andjus, Pavle

Publication type:

Article

Preclinical Animal Models to Investigate the Role of Na v 1.7 Ion Channels in Pain.

Published in:

Life (2075-1729), 2025, v. 15, n. 4, p. 640, doi. 10.3390/life15040640

By:

Yogi, Alvaro;
Banderali, Umberto;
Moreno, Maria J.;
Martina, Marzia

Publication type:

Article

An Update on the Structure of hERG.

Published in:

Frontiers in Pharmacology, 2020, p. 1, doi. 10.3389/fphar.2019.01572

By:

Butler, Andrew;
Helliwell, Matthew V.;
Zhang, Yihong;
Hancox, Jules C.;
Dempsey, Christopher E.

Publication type:

Article

Antibacterial activity of novel linear polyamines against Staphylococcus aureus.

Published in:

Frontiers in Microbiology, 2022, v. 13, p. 1, doi. 10.3389/fmicb.2022.948343

By:

Douglas, Edward J. A.;
Alkhzem, Abdulaziz H.;
Wonfor, Toska;
Shuxian Li;
Woodman, Timothy J.;
Blagbrough, Ian S.;
Laabei, Maisem

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

Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.

Published in:

Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02742

By:

Cabral-Marques, Otavio;
Schimke, Lena F.;
de Oliveira, Edgar Borges;
El Khawanky, Nadia;
Ramos, Rodrigo Nalio;
Al-Ramadi, Basel K.;
Segundo, Gesmar Rodrigues Silva;
Ochs, Hans D.;
Condino-Neto, Antonio

Publication type:

Article

Non-parametric Heat Map Representation of Flow Cytometry Data: Identifying Cellular Changes Associated With Genetic Immunodeficiency Disorders.

Published in:

Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.02134

By:

Ellyard, Julia I.;
Tunningley, Robert;
Lorenzo, Ayla May;
Jiang, Simon H.;
Cook, Amelia;
Chand, Rochna;
Talaulikar, Dipti;
Hatch, Ann-Maree;
Wilson, Anastasia;
Vinuesa, Carola G.;
Cook, Matthew C.;
Fulcher, David A.

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

Gain-of-function TLR7 and loss-of-function A20 gene variants identify a novel pathway for Mendelian lupus and lupus nephritis.

Published in:

Clinical Kidney Journal, 2022, v. 15, n. 11, p. 1973, doi. 10.1093/ckj/sfac152

By:

Villalvazo, Priscila;
Carriazo, Sol;
Rojas-Rivera, Jorge;
Ramos, Adrián M;
Ortiz, Alberto;
Perez-Gomez, Maria Vanessa

Publication type:

Article

Masking by hypokalemia—primary aldosteronism with undetectable aldosterone.

Published in:

Clinical Kidney Journal, 2021, v. 14, n. 4, p. 1269, doi. 10.1093/ckj/sfaa150

By:

Boyle, Rebecca A;
Baker, Jessica E;
Charu, Vivek;
Rainey, William E;
Bhalla, Vivek

Publication type:

Article

Clinical and Complement Long-Term Follow-Up of a Pediatric Patient with C3 Mutation-Related Atypical Hemolytic Uremic Syndrome.

Published in:

Case Reports in Nephrology, 2018, p. 1, doi. 10.1155/2018/3810249

By:

Bjerre, Anna;
Bergseth, Grethe;
Ludviksen, Judith Krey;
Stokke, Arne;
Bosnes, Vidar;
Karpman, Diana;
Mollnes, Tom Eirik

Publication type:

Article

Paediatrics and genetics.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 1, p. 194, doi. 10.1093/ced/llae314

By:

O'Malley, Seán;
Collins, Sinead

Publication type:

Article

A case of Olmsted syndrome with dramatic response to erlotinib.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 12, p. 1755, doi. 10.1093/ced/llae193

By:

Oldham, Jaimie;
O'Toole, Edel

Publication type:

Article

Granulomatous rosacea: a clue to the diagnosis of STAT1 gain of function in a child with immunodeficiency.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 5, p. 516, doi. 10.1093/ced/llad442

By:

Bonino, Cecilia Buján;
Arias, Noelia Moreiras;
Rico, María López-Pardo;
Franco, Montserrat López;
Loidi, Lourdes;
Peñaranda, José Manuel Suárez;
Osorio, Igor Vázquez

Publication type:

Article

A novel candidate gene in autosomal dominant facial pruritus.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 1, p. 184, doi. 10.1111/ced.14883

By:

Thompson, B. A.;
Dear, K.;
Donaldson, E.;
Nixon, R.;
Winship, I. M.

Publication type:

Article

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 1, p. 103, doi. 10.1111/ced.14384

By:

Mohamad, J.;
Samuelov, L.;
Malki, L.;
Peled, A.;
Pavlovsky, M.;
Malovitski, K.;
Taiber, S.;
Adir, N.;
Rabinowitz, T.;
Shomron, N.;
Milner, J. D.;
Lestringant, G.;
Sarig, O.;
Sprecher, E.

Publication type:

Article