Found: 106
Select item for more details and to access through your institution.
Gene, Protein, and in Silico Analyses of FoxO, an Evolutionary Conserved Transcription Factor in the Sea Urchin Paracentrotus lividus.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1078, doi. 10.3390/genes15081078
- By:
- Publication type:
- Article
Galectin-1 and Its Involvement in Hepatocellular Carcinoma Aggressiveness.
- Published in:
- Molecular Medicine, 2010, v. 16, n. 3/4, p. 102, doi. 10.2119/molmed.2009.00119
- By:
- Publication type:
- Article
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 8, p. 1511, doi. 10.1002/ajh.27350
- By:
- Publication type:
- Article
Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers.
- Published in:
- American Journal of Hematology, 2023, v. 98, n. 6, p. E130, doi. 10.1002/ajh.26901
- By:
- Publication type:
- Article
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
- Published in:
- American Journal of Hematology, 2023, v. 98, n. 4, p. E72, doi. 10.1002/ajh.26863
- By:
- Publication type:
- Article
Recommendations for diagnosis and treatment of methemoglobinemia.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 12, p. 1666, doi. 10.1002/ajh.26340
- By:
- Publication type:
- Article
Uridine treatment normalizes the congenital dyserythropoietic anemia typeII‐like hematological phenotype in a patient with homozygous mutation in the CAD gene.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 11, p. 1423, doi. 10.1002/ajh.25946
- By:
- Publication type:
- Article
Gain‐of‐function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 2, p. 188, doi. 10.1002/ajh.25683
- By:
- Publication type:
- Article
The BMP‐SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE‐A260S variant.
- Published in:
- American Journal of Hematology, 2019, v. 94, n. 11, p. 1227, doi. 10.1002/ajh.25613
- By:
- Publication type:
- Article
Genotype‐phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
- Published in:
- American Journal of Hematology, 2018, v. 93, n. 12, p. 1509, doi. 10.1002/ajh.25276
- By:
- Publication type:
- Article
Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias.
- Published in:
- American Journal of Hematology, 2018, v. 93, n. 5, p. 672, doi. 10.1002/ajh.25058
- By:
- Publication type:
- Article
Hereditary stomatocytosis: An underdiagnosed condition.
- Published in:
- American Journal of Hematology, 2018, v. 93, n. 1, p. 107, doi. 10.1002/ajh.24929
- By:
- Publication type:
- Article
Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 10, p. E607, doi. 10.1002/ajh.24853
- By:
- Publication type:
- Article
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 10, p. 921, doi. 10.1002/ajh.24117
- By:
- Publication type:
- Article
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores.
- Published in:
- American Journal of Hematology, 2014, v. 89, n. 10, p. E169, doi. 10.1002/ajh.23800
- By:
- Publication type:
- Article
Inherited hematological disorders due to defects in coat protein (COP)II complex.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 2, p. 135, doi. 10.1002/ajh.23292
- By:
- Publication type:
- Article
Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia.
- Published in:
- American Journal of Hematology, 2013, v. 88, n. 1, p. 66, doi. 10.1002/ajh.23357
- By:
- Publication type:
- Article
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
- Published in:
- American Journal of Hematology, 2011, v. 86, n. 9, p. 727, doi. 10.1002/ajh.22096
- By:
- Publication type:
- Article
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene.
- Published in:
- American Journal of Hematology, 2010, v. 85, n. 12, p. 915, doi. 10.1002/ajh.21866
- By:
- Publication type:
- Article
Titanium dioxide nanoparticles stimulate sea urchin immune cell phagocytic activity involving TLR/p38 MAPK-mediated signalling pathway.
- Published in:
- Scientific Reports, 2015, p. 14492, doi. 10.1038/srep14492
- By:
- Publication type:
- Article
Gene Expression Profiling of NFATc1-Knockdown in RAW 264.7 Cells: An Alternative Pathway for Macrophage Differentiation.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 2, p. 131, doi. 10.3390/cells8020131
- By:
- Publication type:
- Article
Neuronal hemoglobin affects dopaminergic cells' response to stress.
- Published in:
- Cell Death & Disease, 2017, v. 8, n. 1, p. e2538, doi. 10.1038/cddis.2016.458
- By:
- Publication type:
- Article
Plant Essential Oils as Biocides in Sustainable Strategies for the Conservation of Cultural Heritage.
- Published in:
- Sustainability (2071-1050), 2023, v. 15, n. 11, p. 8522, doi. 10.3390/su15118522
- By:
- Publication type:
- Article
Comparison Between Hospitalized Patients Affected or Not Affected by Coronavirus Disease 2019.
- Published in:
- 2021
- By:
- Publication type:
- Letter to the Editor
Relationship between Mediterranean diet and time in therapeutic range in atrial fibrillation patients taking vitamin K antagonists.
- Published in:
- EP: Europace, 2015, v. 17, n. 8, p. 1223, doi. 10.1093/europace/euv127
- By:
- Publication type:
- Article
Special Issue on "Insights on Ecotoxicological Effects of Anthropogenic Contaminants in Aquatic Organisms".
- Published in:
- Toxics, 2023, v. 11, n. 4, p. 311, doi. 10.3390/toxics11040311
- By:
- Publication type:
- Article
Gene Expression Analysis of the Stress Response to Lithium, Nickel, and Zinc in Paracentrotus lividus Embryos.
- Published in:
- Toxics, 2022, v. 10, n. 6, p. N.PAG, doi. 10.3390/toxics10060325
- By:
- Publication type:
- Article
MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 8, p. 518, doi. 10.1038/jhg.2010.62
- By:
- Publication type:
- Article
Reflexões sobre a prática da psicopedagogia e sua conexão com a Psicanálise.
- Published in:
- Trivium (2176-4891), 2015, v. 7, n. 2, p. 286, doi. 10.18379/2176-4891.2015v2p.286
- By:
- Publication type:
- Article
Inflammation and the Potential Implication of Macrophage-Microglia Polarization in Human ASD: An Overview.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2703, doi. 10.3390/ijms24032703
- By:
- Publication type:
- Article
Time to Effective Therapy Is an Important Determinant of Survival in Bloodstream Infections Caused by Vancomycin-Resistant Enterococcus spp.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11925, doi. 10.3390/ijms231911925
- By:
- Publication type:
- Article
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1304, doi. 10.3390/ijms23031304
- By:
- Publication type:
- Article
The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9548, doi. 10.3390/ijms22179548
- By:
- Publication type:
- Article
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5372, doi. 10.3390/ijms22105372
- By:
- Publication type:
- Article
RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 15, p. 5577, doi. 10.3390/ijms21155577
- By:
- Publication type:
- Article
Evolutionary conserved pathway of the innate immune response after a viral insult in Paracentrotus lividus sea urchin.
- Published in:
- International Journal of Immunogenetics, 2019, v. 46, n. 3, p. 192, doi. 10.1111/iji.12424
- By:
- Publication type:
- Article
Transcriptional increase and misexpression of 14-3-3 epsilon in sea urchin embryos exposed to UV-B.
- Published in:
- Cell Stress & Chaperones, 2010, v. 15, n. 6, p. 993, doi. 10.1007/s12192-010-0210-1
- By:
- Publication type:
- Article
The peculiar heme pocket of the 2/2 hemoglobin of cold-adapted Pseudoalteromonas haloplanktis TAC125.
- Published in:
- Journal of Biological Inorganic Chemistry (JBIC), 2011, v. 16, n. 2, p. 299, doi. 10.1007/s00775-010-0726-y
- By:
- Publication type:
- Article
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 130, doi. 10.3390/genes15010130
- By:
- Publication type:
- Article
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 958, doi. 10.3390/genes12070958
- By:
- Publication type:
- Article
The TNFRSF13C H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 881, doi. 10.3390/genes12060881
- By:
- Publication type:
- Article
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
- Published in:
- Nature Genetics, 2009, v. 41, n. 8, p. 936, doi. 10.1038/ng.405
- By:
- Publication type:
- Article
Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives.
- Published in:
- European Journal of Clinical Pharmacology, 2011, v. 67, p. 17, doi. 10.1007/s00228-010-0931-1
- By:
- Publication type:
- Article
Effects of UV-B radiation on development and hsp70 expression in sea urchin cleavage embryos.
- Published in:
- 2007
- By:
- Publication type:
- Correction notice
Effects of UV-B radiation on development and hsp70 expression in sea urchin cleavage embryos.
- Published in:
- Marine Biology, 2006, v. 149, n. 1, p. 79, doi. 10.1007/s00227-005-0213-0
- By:
- Publication type:
- Article
Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00872
- By:
- Publication type:
- Article
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 359, doi. 10.1111/cge.13600
- By:
- Publication type:
- Article
P3-418: A cerebellar variant of Alzheimer’s disease caused by presenilin 1 S170F mutation
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P3-418: A cerebellar variant of Alzheimer’s disease caused by presenilin 1 S170F mutation
- Published in:
- 2006
- By:
- Publication type:
- Abstract
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00864-x
- By:
- Publication type:
- Article