Detalhe da pesquisa
1.
Human Bronchial Epithelial Cell Transcriptome Changes in Response to Serum from Patients with Different Status of Inflammation.
Lung
; 202(2): 157-170, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38494528
2.
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Int J Mol Sci
; 24(16)2023 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37628828
3.
Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.
Int J Mol Sci
; 24(15)2023 Aug 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37569847
4.
Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways.
Int J Mol Sci
; 23(18)2022 Sep 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36142337
5.
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Int J Mol Sci
; 23(16)2022 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36012761
6.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Am J Med Genet A
; 185(3): 877-883, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33346930
7.
New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
Am J Respir Cell Mol Biol
; 63(4): 444-451, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32515985
8.
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
J Hum Genet
; 65(2): 165-174, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31772335
9.
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Am J Respir Cell Mol Biol
; 58(6): 706-716, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29232161
10.
Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene.
J Hum Genet
; 61(5): 463-6, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26763876
11.
NAFLD and AATD Are Two Diseases with Unbalanced Lipid Metabolism: Similarities and Differences.
Biomedicines
; 11(7)2023 Jul 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37509601
12.
Mice inflammatory responses to inhaled aerosolized LPS: effects of various forms of human alpha1-antitrypsin.
J Leukoc Biol
; 113(1): 58-70, 2023 01 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36822165
13.
miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease.
Arch Bronconeumol
; 57(7): 457-463, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35698951
14.
The Delivery of α1-Antitrypsin Therapy Through Transepidermal Route: Worthwhile to Explore.
Front Pharmacol
; 11: 983, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32719598
15.
Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.
Hepatol Int
; 14(1): 127-137, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31832977
16.
miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease.
Arch Bronconeumol (Engl Ed)
; 2020 May 18.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-32439252
17.
Clinical Significance of SERPINA1 Gene and Its Encoded Alpha1-antitrypsin Protein in NSCLC.
Cancers (Basel)
; 11(9)2019 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31487965
18.
Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene.
PLoS One
; 12(1): e0170533, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28107454
19.
miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease / El miR-320c regula la expresión del gen SERPINA1 y se induce en pacientes con enfermedad pulmonar
Arch. bronconeumol. (Ed. impr.)
; 57(7): 457-463, Jul. 2021. ilus, tab, graf
Artigo
Inglês
| IBECS (Espanha) | ID: ibc-211730
20.
Synchronous loss of quasispecies memory in parallel viral lineages: a deterministic feature of viral quasispecies.
J Mol Biol
; 333(3): 553-63, 2003 Oct 24.
Artigo
Inglês
| MEDLINE | ID: mdl-14556744