Detalhe da pesquisa
1.
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Hum Mol Genet
; 33(7): 612-623, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38176734
2.
AlphaFold2-guided description of CoBaHMA, a novel family of bacterial domains within the heavy-metal-associated superfamily.
Proteins
; 92(6): 776-794, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258321
3.
Intergenic ORFs as elementary structural modules of de novo gene birth and protein evolution.
Genome Res
; 31(12): 2303-2315, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34810219
4.
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Blood
; 139(16): 2427-2440, 2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35007328
5.
A sequence-based foldability score combined with AlphaFold2 predictions to disentangle the protein order/disorder continuum.
Proteins
; 91(4): 466-484, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36306150
6.
Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases.
Int J Mol Sci
; 24(2)2023 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674751
7.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Hum Mol Genet
; 29(6): 907-922, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985013
8.
Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR.
Cell Mol Life Sci
; 78(23): 7813-7829, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714360
9.
Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.
Int J Mol Sci
; 23(24)2022 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555865
10.
In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.
Int J Mol Sci
; 23(18)2022 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36142670
11.
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
Transfusion
; 61(8): 2468-2476, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34110623
12.
Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203920
13.
Structure-Based Understanding of ABCA3 Variants.
Int J Mol Sci
; 22(19)2021 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638622
14.
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Blood
; 132(12): 1318-1331, 2018 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29914977
15.
Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.
FASEB J
; 33(12): 14625-14635, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690120
16.
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
Liver Int
; 40(8): 1917-1925, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32433800
17.
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
Mol Genet Metab
; 128(3): 342-351, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30660387
18.
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.
Transfusion
; 59(4): 1367-1375, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30811032
19.
Combining theoretical and experimental data to decipher CFTR 3D structures and functions.
Cell Mol Life Sci
; 75(20): 3829-3855, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779042
20.
Order in Disorder as Observed by the "Hydrophobic Cluster Analysis" of Protein Sequences.
Proteomics
; 18(21-22): e1800054, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30299594