Found: 46
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Functional characterization of p.Pro409His variant in HNF1A, a hypomorphic mutation involved in pancreatic β-cell dysfunction.
- Published in:
- Acta Diabetologica, 2019, v. 56, n. 8, p. 883, doi. 10.1007/s00592-019-01298-6
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- Publication type:
- Article
The Role of MicroRNAs in Cancer Susceptibility.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/591931
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- Publication type:
- Article
Inhibition of SGK1 ameliorates ventriculomegaly in a genetic rat model via regulation of TRPV4 in the choroid plexus.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R2334
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- Publication type:
- Article
A Case of Premature Ovarian Failure in a 33-Year-Old Woman.
- Published in:
- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/573841
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- Publication type:
- Article
Kinase Inhibitors in Genetic Diseases.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5276, doi. 10.3390/ijms24065276
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- Publication type:
- Article
A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 855, doi. 10.1002/acn3.51040
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- Publication type:
- Article
Iron and Ferritin Modulate MHC Class I Expression and NK Cells Recognition.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00224
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- Publication type:
- Article
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.
- Published in:
- 2024
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- Publication type:
- Case Study
The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 80, doi. 10.3390/genes14010080
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- Publication type:
- Article
Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
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- Genes, 2022, v. 13, n. 7, p. 1286, doi. 10.3390/genes13071286
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- Article
A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.
- Published in:
- 2021
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- Publication type:
- Case Study
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1395, doi. 10.3390/genes12091395
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- Publication type:
- Article
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.
- Published in:
- Genes, 2020, v. 11, n. 5, p. 525, doi. 10.3390/genes11050525
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- Publication type:
- Article
Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734809
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- Publication type:
- Article
The Emerging Role of SGK1 (Serum- and Glucocorticoid-Regulated Kinase 1) in Major Depressive Disorder: Hypothesis and Mechanisms.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00826
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- Publication type:
- Article
P-155: Relationship between ACE-gene polymorphism and insulin resistance in never treated hypertensive patients.
- Published in:
- American Journal of Hypertension, 2001, v. 14, p. 82A, doi. 10.1016/S0895-7061(01)01764-2
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- Publication type:
- Article
Relationship between Angiotensin-Converting Enzyme Gene Polymorphism and Insulin Resistance in Never-Treated Hypertensive Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 1, p. 172, doi. 10.1210/jcem.86.1.7117
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- Publication type:
- Article
Effect of digestible carbohydrates on glucose control in insulin-dependent diabetic patients.
- Published in:
- 1984
- By:
- Publication type:
- journal article
SGK1 affects RAN/RANBP1/RANGAP1 via SP1 to play a critical role in pre-miRNA nuclear export: a new route of epigenomic regulation.
- Published in:
- Scientific Reports, 2017, p. 45361, doi. 10.1038/srep45361
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- Publication type:
- Article
Th17-Gene Expression Profile in Patients with Chronic Venous Disease and Venous Ulcers: Genetic Modulations and Preliminary Clinical Evidence.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070902
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- Publication type:
- Article
Relative resistance of SGK1 knockout mice against chemical carcinogenesis.
- Published in:
- IUBMB Life, 2009, v. 61, n. 7, p. 768, doi. 10.1002/iub.209
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- Publication type:
- Article
Interleukin 27 polymorphisms in HCV RNA positive patients: is there an impact on response to interferon therapy?
- Published in:
- 2014
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- Publication type:
- journal article
Interleukin 27 polymorphisms in HCV RNA positive patients: is there an impact on response to interferon therapy?
- Published in:
- BMC Infectious Diseases, 2014, v. 14, n. 1, p. S5, doi. 10.1186/1471-2334-14-S5-S5
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- Publication type:
- Article
Natural history and clinical response: "it's the virus, stupid, or is it the host?".
- Published in:
- 2012
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- Publication type:
- journal article
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0062-x
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- Publication type:
- Article
Inhibition of serum- and glucocorticoid-induced kinase 1 ameliorates hydrocephalus in preclinical models.
- Published in:
- Fluids & Barriers of the CNS, 2023, v. 20, n. 1, p. 1, doi. 10.1186/s12987-023-00461-0
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- Publication type:
- Article
The human asparaginase enzyme (ASPG) inhibits growth in leukemic cells.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0178174
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- Publication type:
- Article
Insulin-Induced Phosphorylation of the Beta-4 Integrin Subunit Expressed on Murine Metastatic Carcinoma Cells.
- Published in:
- Molecular Carcinogenesis, 1989, v. 2, n. 6, p. 361, doi. 10.1002/mc.2940020611
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- Publication type:
- Article
The SGK1 Kinase Inhibitor SI113 Sensitizes Theranostic Effects of the <sup>64</sup>CuCl<sub>2</sub> in Human Glioblastoma Multiforme Cells.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2017, v. 43, n. 1, p. 108, doi. 10.1159/000480328
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- Publication type:
- Article
SGK1, the New Player in the Game of Resistance: Chemo-Radio Molecular Target and Strategy for Inhibition.
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- Cellular Physiology & Biochemistry (Karger AG), 2016, v. 39, n. 5, p. 1863, doi. 10.1159/000447885
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- Publication type:
- Article
SI113, a Specific Inhibitor of the Sgk1 Kinase Activity that Counteracts Cancer Cell Proliferation.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2015, v. 35, n. 5, p. 2006, doi. 10.1159/000374008
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- Publication type:
- Article
60kDa Lysophospholipase, a New Sgk1 Molecular Partner Involved in the Regulation of ENaC.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2010, v. 26, n. 4/5, p. 587, doi. 10.1159/000322326
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- Publication type:
- Article
RANBP1, a member of the nuclear-cytoplasmic trafficking-regulator complex, is the terminal-striking point of the SGK1-dependent Th17<sup>+</sup> pathological differentiation.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1213805
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- Publication type:
- Article
RANBP1 (RAN Binding Protein 1): The Missing Genetic Piece in Cancer Pathophysiology and Other Complex Diseases.
- Published in:
- Cancers, 2023, v. 15, n. 2, p. 486, doi. 10.3390/cancers15020486
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- Publication type:
- Article
The Role of Mitochondrial Hexokinase in Neoplastic Phenotype and Its Sensitivity to Lonidamine <sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1988, v. 551, n. 1, p. 358, doi. 10.1111/j.1749-6632.1988.tb22362.x
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- Publication type:
- Article
The small molecule SI113 hinders epithelial‐to‐mesenchymal transition and subverts cytoskeletal organization in human cancer cells.
- Published in:
- Journal of Cellular Physiology, 2019, v. 234, n. 12, p. 22529, doi. 10.1002/jcp.28816
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- Publication type:
- Article
The SGK1 inhibitor SI113 induces autophagy, apoptosis, and endoplasmic reticulum stress in endometrial cancer cells.
- Published in:
- Journal of Cellular Physiology, 2017, v. 232, n. 12, p. 3735, doi. 10.1002/jcp.25850
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- Publication type:
- Article
Detection of Phosphorylated Insulin Receptor in Colorectal Adenoma and Adenocarcinoma: Implications for Prognosis and Clinical Outcome.
- Published in:
- Journal of Cellular Physiology, 2015, v. 230, n. 3, p. 562, doi. 10.1002/jcp.24733
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- Publication type:
- Article
Sgk1 activates MDM2-dependent p53 degradation and affects cell proliferation, survival, and differentiation.
- Published in:
- Journal of Molecular Medicine, 2009, v. 87, n. 12, p. 1221, doi. 10.1007/s00109-009-0525-5
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- Publication type:
- Article
IL-2 signals through Sgk1 and inhibits proliferation and apoptosis in kidney cancer cells.
- Published in:
- Journal of Molecular Medicine, 2007, v. 85, n. 7, p. 707, doi. 10.1007/s00109-007-0205-2
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- Publication type:
- Article
The SGK1 Kinase Inhibitor SI113 Sensitizes Theranostic Effects of the <sup>64</sup>CuCl<sub>2</sub> in Human Glioblastoma Multiforme Cells.
- Published in:
- Annals of Nutrition & Metabolism, 2017, p. 108, doi. 10.1159/000480328
- By:
- Publication type:
- Article
Determination of SGK1 mRNA in non-small cell lung cancer samples underlines high expression in squamous cell carcinomas.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2012, v. 31, n. 1, p. 1, doi. 10.1186/1756-9966-31-4
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- Publication type:
- Article
Real‐life 3D therapy failure: Analysis of NS5A 93H RAS plus 108 K polymorphism in complex with ombitasvir by molecular modeling.
- Published in:
- Journal of Medical Virology, 2018, v. 90, n. 7, p. 1257, doi. 10.1002/jmv.25073
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- Publication type:
- Article
The kinase inhibitor SI113 induces autophagy and synergizes with quinacrine in hindering the growth of human glioblastoma multiforme cells.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2019, v. 38, n. 1, p. N.PAG, doi. 10.1186/s13046-019-1212-1
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- Publication type:
- Article
RFX-1, a putative alpha Adducin interacting protein in a human kidney library
- Published in:
- FEBS Letters, 2005, v. 579, n. 28, p. 6439, doi. 10.1016/j.febslet.2005.10.040
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- Publication type:
- Article
Protein tyrosine phosphatase PTPRJ is negatively regulated by microRNA-328.
- Published in:
- FEBS Journal, 2013, v. 280, n. 2, p. 401, doi. 10.1111/j.1742-4658.2012.08624.x
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- Publication type:
- Article