Works matching DE "GAIN-of-function mutations"
Results: 953
Inactive and active states and supramolecular organization of GPCRs: insights from computational modeling.
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- Journal of Computer-Aided Molecular Design, 2006, v. 20, n. 7/8, p. 449, doi. 10.1007/s10822-006-9064-0
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- Article
Current therapy of KRAS-mutant lung cancer.
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- Cancer & Metastasis Reviews, 2020, v. 39, n. 4, p. 1159, doi. 10.1007/s10555-020-09903-9
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- Article
A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation.
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- Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 3, p. 529, doi. 10.1007/s00424-013-1337-6
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- Article
STAT5b gain-of-function disease in a child with mycobacterial osteomyelitis of the skull: rare presentation of an emerging disease entity.
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- Child's Nervous System, 2023, v. 39, n. 8, p. 2071, doi. 10.1007/s00381-023-05997-y
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- Article
Recurrent neomorphic mutations of MTOR in central nervous system and testicular germ cell tumors may be targeted for therapy.
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- Acta Neuropathologica, 2016, v. 131, n. 6, p. 889, doi. 10.1007/s00401-016-1557-x
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- Article
Angiopoietin-2-induced blood-brain barrier compromise and increased stroke size are rescued by VE-PTP-dependent restoration of Tie2 signaling.
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- Acta Neuropathologica, 2016, v. 131, n. 5, p. 753, doi. 10.1007/s00401-016-1551-3
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- Article
Gain-of-function p53 mutants co-opt chromatin pathways to drive cancer growth.
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- Nature, 2015, v. 525, n. 7568, p. 206, doi. 10.1038/nature15251
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- Article
Corrigendum: Endocrinization of FGF1 produces a neomorphic and potent insulin sensitizer.
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- Nature, 2015, v. 520, n. 7547, p. 388, doi. 10.1038/nature14304
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- Article
Endocrinization of FGF1 produces a neomorphic and potent insulin sensitizer.
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- Nature, 2014, v. 513, n. 7518, p. 436, doi. 10.1038/nature13540
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- Article
Cell competition is a tumour suppressor mechanism in the thymus.
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- Nature, 2014, v. 509, n. 7501, p. 465, doi. 10.1038/nature13317
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- Article
Chiari I Malformation With Concomitant Nonfunctioning Pituitary and Adrenal Tumors.
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- JCEM Case Reports, 2024, v. 2, n. 6, p. 1, doi. 10.1210/jcemcr/luae113
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- Article
Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc Shortening.
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- Biochemistry (00062979), 2024, v. 89, n. 3, p. 543, doi. 10.1134/S000629792403012X
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- Article
ENCEFALOPATIA EPILÉPTICA E DO DESENVOLVIMENTO ASSOCIADA A VARIANTE NO GENE KCNA2: UM RELATO DE CASO.
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- Revista Foco (Interdisciplinary Studies Journal), 2024, v. 17, n. 11, p. 1, doi. 10.54751/revistafoco.v17n11-245
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- Publication type:
- Article
Long QT syndrome type 3 gain-of-function of Na<sub>v</sub>1.5 increases ventricular fibroblasts proliferation and pro-fibrotic factors.
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- Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07636-5
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- Article
Initial alpha-1 antitrypsin screening in Turkish patients with chronic obstructive pulmonary disease.
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- Turkish Journal of Medical Sciences, 2023, v. 53, n. 4, p. 1012, doi. 10.55730/1300-0144.5665
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- Article
Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review.
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- Turkish Journal of Medical Sciences, 2020, v. 50, p. 1591, doi. 10.3906/sag-2008-11
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- Article
KCNN4 links PIEZO-dependent mechanotransduction to NLRP3 inflammasome activation.
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- Science Immunology, 2023, v. 8, n. 90, p. 1, doi. 10.1126/sciimmunol.adf4699
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- Article
Ikaros is a principal regulator of Aire<sup>+</sup> mTEC homeostasis, thymic mimetic cell diversity, and central tolerance.
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- Science Immunology, 2023, v. 8, n. 88, p. 1, doi. 10.1126/sciimmunol.abq3109
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- Article
The Structural and Functional Study of Efflux Pumps Belonging to the RND Transporters Family from Gram-Negative Bacteria.
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- Antibiotics (2079-6382), 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/antibiotics11040429
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- Article
The metabolic reprogramming and vulnerability of SF3B1 mutations.
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- Molecular & Cellular Oncology, 2020, v. 7, n. 3, p. 1, doi. 10.1080/23723556.2019.1697619
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- Article
靶向TRPA1 通道的药物开发研究进展.
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- Progress in Modern Biomedicine, 2019, v. 19, n. 5, p. 996, doi. 10.13241/j.cnki.pmb.2019.05.045
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- Article
An Activating Mutation in ERK Causes Hyperplastic Tumors in a scribble Mutant Tissue in Drosophila.
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- Genetics, 2020, v. 214, n. 1, p. 109, doi. 10.1534/genetics.119.302794
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- Publication type:
- Article
A tumor suppressor role for EZH2 in diffuse midline glioma pathogenesis.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01336-5
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- Publication type:
- Article
TP53 wild-type/PPM1D mutant diffuse intrinsic pontine gliomas are sensitive to a MDM2 antagonist.
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- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01270-y
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- Article
New somatic TERT promoter variants enhance the Telomerase activity in Glioblastoma.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01022-4
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- Article
Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 12, p. 907, doi. 10.3390/brainsci10120907
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- Article
Polypeptide Substrate Accessibility Hypothesis: Gain-of-Function R206H Mutation Allosterically Affects Activin Receptor-like Protein Kinase Activity.
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- Biomolecules (2218-273X), 2023, v. 13, n. 7, p. 1129, doi. 10.3390/biom13071129
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- Article
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
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- Biomolecules (2218-273X), 2022, v. 12, n. 8, p. 1030, doi. 10.3390/biom12081030
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- Article
Expression of a PCSK9 Gain-of-Function Mutation in C57BL/6J Mice to Facilitate Angiotensin II-Induced AAAs.
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- Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070915
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- Article
Thyroid carcinoma‐featured telomerase activation and telomere maintenance: Biology and translational/clinical significance.
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- Clinical & Translational Medicine, 2022, v. 12, n. 11, p. 1, doi. 10.1002/ctm2.1111
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- Article
Basal astrocyte and microglia activation in the central nervous system of Familial Hemiplegic Migraine Type I mice.
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- 2019
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- Publication type:
- journal article
A Gain-of-Function Mutant of IAA15 Inhibits Lateral Root Development by Transcriptional Repression of LBD Genes in Arabidopsis.
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- Frontiers in Plant Science, 2020, v. 11, p. N.PAG, doi. 10.3389/fpls.2020.01239
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- Article
A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia.
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- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2023.1265022
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- Article
A bacterial enzyme may correct 2-HG accumulation in human cancers.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1235191
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- Article
Transcriptome analysis reveals effects of leukemogenic SHP2 mutations in biosynthesis of amino acids signaling.
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- Frontiers in Oncology, 2023, v. 13, p. 1, doi. 10.3389/fonc.2023.1090542
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- Article
Targeting mutant p53-R248W reactivates WT p53 function and alters the oncometabolic profile.
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- Frontiers in Oncology, 2023, v. 13, p. 1, doi. 10.3389/fonc.2022.1094210
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- Article
Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1155883
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- Publication type:
- Article
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1183273
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- Publication type:
- Article
CARD11 gain-of-function mutation drives cell- autonomous accumulation of PD-1<sup>+</sup> ICOS<sup>high</sup> activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells.
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- Frontiers in Immunology, 2023, v. 14, p. 01, doi. 10.3389/fimmu.2023.1095257
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- Publication type:
- Article
Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi--Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.
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- Frontiers in Immunology, 2023, v. 13, p. 01, doi. 10.3389/fimmu.2022.1033513
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- Publication type:
- Article
NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1007705
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- Article
Strong inflammatory signatures in the neutrophils of PAMI syndrome.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.926087
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- Article
Case Report: Association between cyclic neutropenia and SRP54 deficiency.
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- 2022
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- Publication type:
- Case Study
STAT3 gain-of-function is not responsible for low total IgE levels in patients with autoimmune chronic spontaneous urticaria.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.902652
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- Publication type:
- Article
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.917601
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- Publication type:
- Article
Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.890073
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- Publication type:
- Article
A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.866638
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- Article
Report of a Father With Congenital Bilateral Absence of the Vas Deferens Fathering a Child With Beare–Stevenson Syndrome.
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- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00104
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- Publication type:
- Article
Clinical and Complement Long-Term Follow-Up of a Pediatric Patient with C3 Mutation-Related Atypical Hemolytic Uremic Syndrome.
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- Case Reports in Nephrology, 2018, p. 1, doi. 10.1155/2018/3810249
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- Article
The identification of critical time windows of postnatal root elongation in response to Wnt/β‐catenin signaling.
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- Oral Diseases, 2022, v. 28, n. 2, p. 442, doi. 10.1111/odi.13753
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- Publication type:
- Article