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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
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 highly malignant phenotype of anaplastic thyroid carcinoma cell lines is recessive.
- Published in:
- European Journal of Endocrinology, 2000, v. 143, n. 4, p. 515, doi. 10.1530/eje.0.1430515
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- Publication type:
- Article
Iodide symporter gene expression in normal and transformed rat thyroid cells.
- Published in:
- European Journal of Endocrinology, 1999, v. 140, n. 5, p. 447, doi. 10.1530/eje.0.1400447
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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
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
Commentary: Case report: Mesothelioma and BAP1 tumor predisposition syndrome: implications for public health.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1279786
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- Publication type:
- Article
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice.
- Published in:
- Nature Medicine, 2005, v. 11, n. 7, p. 765, doi. 10.1038/nm1254
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- Publication type:
- Article
Targeted Disruption of the Murine Homeodomain-Interacting Protein Kinase-2 Causes Growth Deficiency In Vivo and Cell Cycle Arrest In Vitro.
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- DNA & Cell Biology, 2009, v. 28, n. 4, p. 161, doi. 10.1089/dna.2008.0778
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- Publication type:
- Article
Genetic Ablation of Ptprj, a Mouse Cancer Susceptibility Gene, Results in Normal Growth and Development and Does Not Predispose to Spontaneous Tumorigenesis.
- Published in:
- DNA & Cell Biology, 2006, v. 25, n. 6, p. 376, doi. 10.1089/dna.2006.25.376
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- Publication type:
- 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
Inhibitory Effects of Peroxisome Proliferator-Activated Receptor γ on Thyroid Carcinoma Cell Growth.
- Published in:
- 2002
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- Publication type:
- journal article
The Phosphotyrosine Phosphatase η Mediates Somatostatin Inhibition of Glioma Proliferation via the Dephosphorylation of ERK½.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1030, n. 1, p. 264, doi. 10.1196/annals.1329.033
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- Publication type:
- Article
Múltiples caminos a la tesina.
- Published in:
- Cuestiones de Sociologia: Revista de Estudios Sociales, 2024, n. 29, p. 1, doi. 10.24215/23468904e170
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- Publication type:
- Article
Deporte: la dinámica de lo analizable.
- Published in:
- Cuestiones de Sociologia: Revista de Estudios Sociales, 2018, v. 18, p. 120, doi. 10.24215/23468904e047
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- Publication type:
- Article
Somos socios cadetes, todavía no nos pasaron a pleno: institucionalización y desafíos actuales del campo de Estudios Sociales del Deporte. Entrevista a Pablo Alabarces.
- Published in:
- Cuestiones de Sociologia: Revista de Estudios Sociales, 2018, v. 18, p. 102, doi. 10.24215/23468904e060
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- Publication type:
- Article
Deporte y emociones. Un estudio comparativo a partir del golf, el fútbol y la natación.
- Published in:
- Cuestiones de Sociologia: Revista de Estudios Sociales, 2018, v. 18, p. 62, doi. 10.24215/23468904e053
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- Publication type:
- Article
Sociologías pragmatistas: continuidades entre postulados teóricos y operaciones metodológicas.
- Published in:
- Cuestiones de Sociologia: Revista de Estudios Sociales, 2017, n. 16, p. 1, doi. 10.24215/23468904e027
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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
The rat tyrosine phosphatase?increases cell adhesion by activating c-Src through dephosphorylation of its inhibitory phosphotyrosine residue.
- Published in:
- Oncogene, 2005, v. 24, n. 19, p. 3187, doi. 10.1038/sj.onc.1208510
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- Publication type:
- Article
The tyrosine phosphatase PTPRJ/DEP-1 genotype affects thyroid carcinogenesis.
- Published in:
- Oncogene, 2004, v. 23, n. 52, p. 8432, doi. 10.1038/sj.onc.1207766
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- Publication type:
- Article
Cloning and molecular characterization of a novel gene strongly induced by the adenovirus E1A gene in rat thyroid cells.
- Published in:
- Oncogene, 2003, v. 22, n. 7, p. 1087, doi. 10.1038/sj.onc.1206194
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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
Li–Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.
- Published in:
- Cancers, 2022, v. 14, n. 15, p. 3664, doi. 10.3390/cancers14153664
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- Publication type:
- Article
Human herpesvirus-6 reactivation in a longitudinal study of two HIV-1 infected patients.
- Published in:
- Journal of Medical Virology, 1997, v. 51, n. 4, p. 259, doi. 10.1002/(SICI)1096-9071(199704)51:4<259::AID-JMV1>3.0.CO;2-4
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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
Restoration of receptor-type protein tyrosine phosphatase ? function inhibits human pancreatic carcinoma cell growth in vitro and in vivo.
- Published in:
- Carcinogenesis, 2004, v. 25, n. 11, p. 2107, doi. 10.1093/carcin/bgh224
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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
The Eighth Fibronectin Type III Domain of Protein Tyrosine Phosphatase Receptor J Influences the Formation of Protein Complexes and Cell Localization.
- Published in:
- Journal of Biochemistry, 2009, v. 145, n. 3, p. 377, doi. 10.1093/jb/mvn175
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- Publication type:
- Article
Correction: Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
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
Fhit-Fdxr interaction in the mitochondria: modulation of reactive oxygen species generation and apoptosis in cancer cells.
- Published in:
- Cell Death & Disease, 2019, v. 10, n. 3, p. 1, doi. 10.1038/s41419-019-1414-7
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- Publication type:
- Article
In vitro Antiviral Activity of Distamycin A against Clinical Isolates of Herpes Simplex Virus 1 and 2 from Transplanted Patients.
- Published in:
- Intervirology, 2008, v. 51, n. 3, p. 166, doi. 10.1159/000148199
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- Publication type:
- Article
"Cómo intentar atrapar nubes con una red". De las definiciones objetivas a las prácticas de producción cultural de las clases medias.
- Published in:
- Sociohistórica: Cuadernos del CISH, 2010, v. 27, p. 219
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- Publication type:
- Article
DNA Damage, Homology-Directed Repair, and DNA Methylation.
- Published in:
- PLoS Genetics, 2007, v. 3, n. 7, p. e110, doi. 10.1371/journal.pgen.0030110
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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
- By:
- 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.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1286, doi. 10.3390/genes13071286
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- Publication type:
- Article
A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.
- Published in:
- 2021
- By:
- 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
40 Years of RAS—A Historic Overview.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 681, doi. 10.3390/genes12050681
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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
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
Adult-Onset Case of Female Idiopathic Hypogonadotropic Hypogonadism and Ataxia: Genetic Background.
- Published in:
- Endocrines, 2024, v. 5, n. 3, p. 334, doi. 10.3390/endocrines5030024
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- Publication type:
- Article
Gynecomastia and Leydigioma: An Unexpected Case Report Outcome.
- Published in:
- Endocrines, 2023, v. 4, n. 3, p. 656, doi. 10.3390/endocrines4030046
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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
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
- By:
- Publication type:
- Article
Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Correction: DNA Damage, Homology-Directed Repair, and DNA Methylation.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice