Detalhe da pesquisa
1.
Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs.
Nucleic Acids Res
; 52(10): 5959-5974, 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38426935
2.
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Clin Genet
; 104(5): 542-553, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526466
3.
RNA kink-turns are highly anisotropic with respect to lateral displacement of the flanking stems.
Biophys J
; 121(5): 705-714, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35122735
4.
Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.
Epilepsy Behav
; 128: 108564, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065395
5.
Importance of base-pair opening for mismatch recognition.
Nucleic Acids Res
; 48(20): 11322-11334, 2020 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33080020
6.
A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome.
Int J Mol Sci
; 23(2)2022 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055070
7.
Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia.
Platelets
; 32(6): 838-841, 2021 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32819174
8.
Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia.
Ann Hematol
; 98(2): 423-435, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30368590
9.
High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.
RNA Biol
; 16(10): 1364-1376, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213135
10.
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Platelets
; 29(8): 827-833, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30332551
11.
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Gen Physiol Biophys
; 36(4): 361-371, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653649
12.
Wobble pairs of the HDV ribozyme play specific roles in stabilization of active site dynamics.
Phys Chem Chem Phys
; 17(8): 5887-900, 2015 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25631765
13.
Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.
Haematologica
; 104(1): e32-e34, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30337362
14.
Structure and mechanical properties of the ribosomal L1 stalk three-way junction.
Nucleic Acids Res
; 40(13): 6290-303, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451682
15.
Unveiling the dynamics and molecular landscape of a rare chronic lymphocytic leukemia subpopulation driving refractoriness: insights from single-cell RNA sequencing.
Mol Oncol
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38770541
16.
Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.
Front Genet
; 14: 1123914, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470035
17.
Molecular dynamics simulations suggest that RNA three-way junctions can act as flexible RNA structural elements in the ribosome.
Nucleic Acids Res
; 38(18): 6247-64, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20507916
18.
Dynamics of the base of ribosomal A-site finger revealed by molecular dynamics simulations and Cryo-EM.
Nucleic Acids Res
; 38(4): 1325-40, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19952067
19.
Phylogenetic Reassessment, Taxonomy, and Biogeography of Codinaea and Similar Fungi.
J Fungi (Basel)
; 7(12)2021 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34947079
20.
Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact.
Front Genet
; 11: 691, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32695144