Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.
Hum Mol Genet
; 32(6): 984-997, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36255738
3.
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Am J Hum Genet
; 109(4): 571-586, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240055
4.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206744
5.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; 26(7): 101125, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522068
6.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
; 146(4): 1420-1435, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718090
7.
Prothoracicotropic hormone modulates environmental adaptive plasticity through the control of developmental timing.
Development
; 145(6)2018 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29467242
8.
Novel role of dynamin-related-protein 1 in dynamics of ER-lipid droplets in adipose tissue.
FASEB J
; 34(6): 8265-8282, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32294302
9.
De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.
medRxiv
; 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260438
10.
Sphingolipids in neurodegenerative diseases.
Front Neurosci
; 17: 1137893, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36875645
11.
COL3A1, COL5A1 and COL6A2 serve as potential molecular biomarkers for osteoarthritis based on weighted gene coexpression network analysis bioinformatics analysis.
Exp Ther Med
; 26(5): 540, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37869636
12.
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
medRxiv
; 2023 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37502976
13.
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Elife
; 122023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38079206
14.
Hypoxia-induced up-regulation of aquaporin-1 protein in prostate cancer cells in a p38-dependent manner.
Cell Physiol Biochem
; 29(1-2): 269-80, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22415096
15.
Role of vimentin in the inhibitory effects of low-molecular-weight heparin on PC-3M cell adhesion to, and migration through, endothelium.
J Pharmacol Exp Ther
; 339(1): 82-92, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21733881
16.
Coordination among multiple receptor tyrosine kinase signals controls Drosophila developmental timing and body size.
Cell Rep
; 36(9): 109644, 2021 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469735
17.
Control of the insect metamorphic transition by ecdysteroid production and secretion.
Curr Opin Insect Sci
; 43: 11-20, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32950745
18.
Developmental Maturation: Drosophila AstA Signaling Provides a Kiss to Grow Up.
Curr Biol
; 29(5): R161-R164, 2019 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836086
19.
A Tissue- and Temporal-Specific Autophagic Switch Controls Drosophila Pre-metamorphic Nutritional Checkpoints.
Curr Biol
; 29(17): 2840-2851.e4, 2019 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422886
20.
Body Size and Tissue-Scaling Is Regulated by Motoneuron-Derived Activinß in Drosophila melanogaster.
Genetics
; 213(4): 1447-1464, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585954