Search details
1.
Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.
Blood
; 2024 Mar 21.
Article
in English
| MEDLINE | ID: mdl-38513239
2.
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.
Am J Hum Genet
; 103(3): 440-447, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30146126
3.
Characterization of human telomere RNA G-quadruplex structures in vitro and in living cells using 19F NMR spectroscopy.
Nucleic Acids Res
; 45(9): 5501-5511, 2017 May 19.
Article
in English
| MEDLINE | ID: mdl-28180296
4.
RNAcentral: a comprehensive database of non-coding RNA sequences.
Nucleic Acids Res
; 45(D1): D128-D134, 2017 01 04.
Article
in English
| MEDLINE | ID: mdl-27794554
5.
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models.
Biochem Biophys Res Commun
; 495(2): 1839-1845, 2018 01 08.
Article
in English
| MEDLINE | ID: mdl-29225165
6.
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.
J Hum Genet
; 62(4): 473-480, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-27928163
7.
scaRNAs regulate splicing and vertebrate heart development.
Biochim Biophys Acta
; 1852(8): 1619-29, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25916634
8.
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Br J Haematol
; 168(6): 854-64, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25424902
9.
Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.
RNA Biol
; 12(4): 426-34, 2015.
Article
in English
| MEDLINE | ID: mdl-25849198
10.
Dissecting the protein-RNA interface: the role of protein surface shapes and RNA secondary structures in protein-RNA recognition.
Nucleic Acids Res
; 40(8): 3299-306, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22199255
11.
Loss of ribosomal RNA modification causes developmental defects in zebrafish.
Nucleic Acids Res
; 40(1): 391-8, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-21908402
12.
The NPC motif of aquaporin-11, unlike the NPA motif of known aquaporins, is essential for full expression of molecular function.
J Biol Chem
; 286(5): 3342-50, 2011 Feb 04.
Article
in English
| MEDLINE | ID: mdl-21118806
13.
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
Haematologica
; 102(3): e93-e96, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27909223
14.
Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia.
Br J Haematol
; 152(5): 648-54, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21223253
15.
Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.
Hum Mol Genet
; 17(20): 3204-11, 2008 Oct 15.
Article
in English
| MEDLINE | ID: mdl-18653748
16.
Prokaryotic ribosomal RNA stimulates zebrafish embryonic innate immune system.
BMC Res Notes
; 13(1): 6, 2020 Jan 03.
Article
in English
| MEDLINE | ID: mdl-31900206
17.
Analysis of ribosomal protein gene structures: implications for intron evolution.
PLoS Genet
; 2(3): e25, 2006 Mar.
Article
in English
| MEDLINE | ID: mdl-16518464
18.
Zebrafish Models of Diamond-Blackfan Anemia: A Tool for Understanding the Disease Pathogenesis and Drug Discovery.
Pharmaceuticals (Basel)
; 12(4)2019 Oct 09.
Article
in English
| MEDLINE | ID: mdl-31600948
19.
Age- and α-Synuclein-Dependent Degeneration of Dopamine and Noradrenaline Neurons in the Annual Killifish Nothobranchius furzeri.
Cell Rep
; 26(7): 1727-1733.e6, 2019 02 12.
Article
in English
| MEDLINE | ID: mdl-30759385
20.
Abnormal development of zebrafish after knockout and knockdown of ribosomal protein L10a.
Sci Rep
; 9(1): 18130, 2019 12 02.
Article
in English
| MEDLINE | ID: mdl-31792295