Detalhe da pesquisa
1.
Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Blood Cells Mol Dis
; 106: 102838, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38413287
2.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
Blood
; 139(21): 3111-3126, 2022 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35213692
3.
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Hum Mutat
; 43(3): 389-402, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34961992
4.
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
5.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet
; 105(5): 1040-1047, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630789
6.
The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNA.
Nucleic Acids Res
; 48(2): 830-846, 2020 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799605
7.
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Nucleic Acids Res
; 48(2): 770-787, 2020 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799629
8.
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
PLoS Genet
; 15(2): e1007917, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30707697
9.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 103(6): 930-947, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503522
10.
RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.
PLoS Genet
; 14(3): e1007226, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518074
11.
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Am J Hum Genet
; 100(3): 506-522, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257692
12.
Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation.
Nucleic Acids Res
; 45(11): 6822-6836, 2017 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28402503
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29225165
14.
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Haematologica
; 103(6): 949-958, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599205
15.
Structure of a human pre-40S particle points to a role for RACK1 in the final steps of 18S rRNA processing.
Nucleic Acids Res
; 44(17): 8465-78, 2016 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27530427
16.
The Genetic Landscape of Diamond-Blackfan Anemia.
Am J Hum Genet
; 104(2): 356, 2019 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735661
17.
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
Gastroenterology
; 147(3): 595-598.e5, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24941021
18.
Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA.
Nucleic Acids Res
; 41(8): 4709-23, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23482395
19.
Post-mitotic dynamics of pre-nucleolar bodies is driven by pre-rRNA processing.
J Cell Sci
; 125(Pt 19): 4532-42, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22767511
20.
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Hum Genet
; 132(11): 1265-74, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812780