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Optical coherence tomography assessment of disease activity in cryopyrin‐associated periodic syndrome.
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- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16301
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- Article
Germline variants of DNA repair and immune genes in lymphoma from lymphoma‐cancer families.
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- International Journal of Cancer, 2024, v. 155, n. 1, p. 93, doi. 10.1002/ijc.34892
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- Article
Host JAK-STAT activity is a target of parasitoid wasp virulence strategies.
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- PLoS Pathogens, 2024, v. 0, n. 7, p. 1, doi. 10.1371/journal.ppat.1012349
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- Article
Rare histologic transformation of a CTNNB1 (β-catenin) mutated prostate cancer with aggressive clinical course.
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- Diagnostic Pathology, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13000-024-01511-3
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- Article
SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01929-0
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- Article
Unveiling myeloid transformation: T‐LGLL with eosinophilia masking myeloid‐associated STAT5B mutation culminating in AML.
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- British Journal of Haematology, 2024, v. 204, n. 6, p. 2487, doi. 10.1111/bjh.19421
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- Article
GNAS mutation inhibits growth and induces phosphodiesterase 4D expression in colorectal cancer cell lines.
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- International Journal of Cancer, 2024, v. 154, n. 11, p. 1987, doi. 10.1002/ijc.34865
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- Article
Structure–Activity Relationship Studies in a Series of Xanthine Inhibitors of SLACK Potassium Channels.
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- Molecules, 2024, v. 29, n. 11, p. 2437, doi. 10.3390/molecules29112437
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- Article
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
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- Science Translational Medicine, 2024, v. 16, n. 748, p. 1, doi. 10.1126/scitranslmed.adk1358
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- Article
The DEP1 Mutation Improves Stem Lodging Resistance and Biomass Saccharification by Affecting Cell Wall Biosynthesis in Rice.
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- Rice (19398425), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12284-024-00712-0
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- Article
Phenotypic characterization and candidate gene analysis of a short kernel and brassinosteroid insensitive mutant from hexaploid oat (Avena sativa).
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- Frontiers in Plant Science, 2024, p. 01, doi. 10.3389/fpls.2024.1358490
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- 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
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- Article
Granulomatous rosacea: a clue to the diagnosis of STAT1 gain of function in a child with immunodeficiency.
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- Clinical & Experimental Dermatology, 2024, v. 49, n. 5, p. 516, doi. 10.1093/ced/llad442
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- Article
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: A Calcium Channelopathy?
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- Epilepsy Currents, 2024, v. 24, n. 3, p. 191, doi. 10.1177/15357597241249045
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- Article
Newly Identified KCNA3 Gene Variants Put the "Excite"-ment Back in Kv1.3 Channelopathy.
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- Epilepsy Currents, 2024, v. 24, n. 3, p. 200, doi. 10.1177/15357597241234244
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- Article
Study of the genetic association between selected 3q29 region genes and schizophrenia and autism spectrum disorder in the Japanese population.
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- Nagoya Journal of Medical Science, 2024, v. 86, n. 2, p. 216, doi. 10.18999/nagjms.86.2.216
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- Article
Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
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- BMC Ophthalmology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12886-024-03419-4
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- Article
A gain-of-function mutation in zinc cluster transcription factor Rob1 Drives Candida albicans adaptive growth in the cystic fibrosis lung environment.
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- PLoS Pathogens, 2024, v. 20, n. 4, p. 1, doi. 10.1371/journal.ppat.1012154
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- Article
STAT1/STAT3 Gain of Function and Mechanisms of Immune Dysregulation.
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- Turkish Journal of Immunology, 2024, v. 12, p. 47, doi. 10.4274/tji.galenos.2023.52386
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- Article
Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations.
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- 2024
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- Case Study
Long‐Term Downregulation of the Sodium Channel Gene Scn8a Is Therapeutic in Mouse Models of SCN8A Epilepsy.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 4, p. 754, doi. 10.1002/ana.26861
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- Article
Dysautonomia and response to guanfacine in individuals with an SCN9A variant.
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- Clinical Autonomic Research, 2024, v. 34, n. 2, p. 303, doi. 10.1007/s10286-024-01029-0
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- Article
Duodenal gastrointestinal stromal tumor presenting with life‐threatening upper GI bleeding in a young patient: A case report and literature review.
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- 2024
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- Case Study
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 4, p. 1351, doi. 10.1007/s00417-023-06309-5
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- Article
Updates on Genetic Hearing Loss: From Diagnosis to Targeted Therapies.
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- Journal of Audiology & Otology, 2024, v. 28, n. 2, p. 88, doi. 10.7874/jao.2024.00157
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- Article
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
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- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01684-y
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- Article
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF.
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- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01687-9
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- Article
Periodontal disease in patients with WHIM syndrome.
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- Journal of Clinical Periodontology, 2024, v. 51, n. 4, p. 464, doi. 10.1111/jcpe.13940
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- Article
Risk Factors of Thrombophilia-Related Mutations for Early and Late Pregnancy Loss.
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- Medicina (1010660X), 2024, v. 60, n. 4, p. 521, doi. 10.3390/medicina60040521
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- Article
A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.
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- Neurological Sciences, 2024, v. 45, n. 4, p. 1749, doi. 10.1007/s10072-024-07334-w
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- Article
Association between de novo variants of nuclear-encoded mitochondrial-related genes and undiagnosed developmental disorder and autism.
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- QJM: An International Journal of Medicine, 2024, v. 117, n. 4, p. 269, doi. 10.1093/qjmed/hcad249
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- Article
5,6-dimethylxanthenone-4- acetic acid (DMXAA), a partial STING agonist, competes for human STING activation.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1353336
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- Article
Development of activation-tagged gain-of-functional mutants in indica rice line (BPT 5204) for sheath blight resistance.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-023-09194-7
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- Article
TP53 gain-of-function mutations promote osimertinib resistance via TNF-α–NF-κB signaling in EGFR-mutated lung cancer.
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- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00557-2
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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
Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency.
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- Journal of Clinical Immunology, 2024, v. 44, n. 3, p. 1, doi. 10.1007/s10875-024-01667-z
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- Article
Clinical and genetic features of patients suffering from CMT4J.
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- Journal of Neurology, 2024, v. 271, n. 3, p. 1355, doi. 10.1007/s00415-023-12076-4
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- Article
A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family.
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- Pakistan Journal of Medical Sciences, 2024, v. 40, n. 4, p. 782, doi. 10.12669/pjms.40.4.8707
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- Article
Spontaneous clinical remission of Nagashima‐type palmoplantar keratoderma in a patient of Korean descent with a heterozygous SERPINB7 mutation.
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- Pediatric Dermatology, 2024, v. 41, n. 2, p. 369, doi. 10.1111/pde.15511
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- Article
Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China.
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- Turkish Journal of Pediatrics, 2024, v. 66, n. 2, p. 191, doi. 10.24953/turkjpediatr.2024.4593
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- Article
Endogenous chondroitin extends the lifespan and healthspan in C. elegans.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55417-7
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- Article
Activation of gp130 signaling in T cells drives T<sub>H</sub>17-mediated multi-organ autoimmunity.
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- Science Signaling, 2024, v. 17, n. 824, p. 1, doi. 10.1126/scisignal.adc9662
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- Article
Drosophila expressing mutant human KCNT1 transgenes make an effective tool for targeted drug screening in a whole animal model of KCNT1-epilepsy.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53588-x
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- 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
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- Article
The gain-of-function mutation blf13 in the barley orthologue of the rice growth regulator NARROW LEAF1 is associated with increased leaf width.
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- Journal of Experimental Botany, 2024, v. 75, n. 3, p. 850, doi. 10.1093/jxb/erad403
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- Article
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
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- Annals of Neurology, 2024, v. 95, n. 2, p. 365, doi. 10.1002/ana.26826
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- Article
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 202, doi. 10.1111/cge.14439
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- Article
Aggressive Lymphoplasmacytic Neoplasm With an Unusual In-frame Deletion of MYD88 Associated With TRAF3 and TP53 Mutations and Complex Karyotype.
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- International Journal of Surgical Pathology, 2024, v. 32, n. 1, p. 5, doi. 10.1177/10668969231168359
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- Article
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway.
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- Journal of Pathology, 2024, v. 262, n. 2, p. 147, doi. 10.1002/path.6219
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- Article
Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2023.1320514
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- Article