Detalhe da pesquisa
1.
Kinase Inhibitors in Genetic Diseases.
Int J Mol Sci
; 24(6)2023 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982349
2.
Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report.
BMC Ophthalmol
; 21(1): 284, 2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34301208
3.
Correction: DNA Damage, Homology-Directed Repair, and DNA Methylation.
PLoS Genet
; 13(2): e1006605, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28187196
4.
Correction: Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report.
BMC Ophthalmol
; 24(1): 26, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243158
5.
SI113, a specific inhibitor of the Sgk1 kinase activity that counteracts cancer cell proliferation.
Cell Physiol Biochem
; 35(5): 2006-18, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25871776
6.
Early molecular and behavioral response to lipopolysaccharide in the WAG/Rij rat model of absence epilepsy and depressive-like behavior, involves interplay between AMPK, AKT/mTOR pathways and neuroinflammatory cytokine release.
Brain Behav Immun
; 42: 157-68, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24998197
7.
Metabolic drives affecting Th17/Treg gene expression changes and differentiation: impact on immune-microenvironment regulation.
APMIS
; 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38239016
8.
Fhit interaction with ferredoxin reductase triggers generation of reactive oxygen species and apoptosis of cancer cells.
J Biol Chem
; 292(34): 14279, 2017 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28842474
9.
RANBP1 (RAN Binding Protein 1): The Missing Genetic Piece in Cancer Pathophysiology and Other Complex Diseases.
Cancers (Basel)
; 15(2)2023 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672435
10.
RANBP1, a member of the nuclear-cytoplasmic trafficking-regulator complex, is the terminal-striking point of the SGK1-dependent Th17+ pathological differentiation.
Front Immunol
; 14: 1213805, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37441077
11.
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice.
Nat Med
; 11(7): 765-73, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15924147
12.
Li-Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.
Cancers (Basel)
; 14(15)2022 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35954327
13.
The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.
Genes (Basel)
; 14(1)2022 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672821
14.
Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
Genes (Basel)
; 13(7)2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886069
15.
Th17-Gene Expression Profile in Patients with Chronic Venous Disease and Venous Ulcers: Genetic Modulations and Preliminary Clinical Evidence.
Biomolecules
; 12(7)2022 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35883458
16.
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.
Genes (Basel)
; 12(9)2021 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573377
17.
Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li-Fraumeni Syndrome.
Front Genet
; 12: 734809, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34539758
18.
A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5.
Genes (Basel)
; 12(10)2021 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680898
19.
60kDa lysophospholipase, a new Sgk1 molecular partner involved in the regulation of ENaC.
Cell Physiol Biochem
; 26(4-5): 587-96, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21063096
20.
DNA damage, homology-directed repair, and DNA methylation.
PLoS Genet
; 3(7): e110, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17616978