Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Identifying causal serum protein-cardiometabolic trait relationships using whole genome sequencing.
Hum Mol Genet
; 32(8): 1266-1275, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349687
3.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Hum Mol Genet
; 32(17): 2717-2734, 2023 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369025
4.
Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction.
PLoS Genet
; 18(5): e1010190, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35533204
5.
Knockout mouse models as a resource for the study of rare diseases.
Mamm Genome
; 34(2): 244-261, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37160609
6.
Tick-tock hedgehog-mutual crosstalk with liver circadian clock promotes liver steatosis.
J Hepatol
; 70(6): 1192-1202, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30711403
7.
LncRNA U90926 is dispensable for the development of obesity-associated phenotypes in vivo.
Physiol Rep
; 12(1): e15901, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38171546
8.
AOX delays the onset of the lethal phenotype in a mouse model of Uqcrh (complex III) disease.
Biochim Biophys Acta Mol Basis Dis
; 1869(7): 166760, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230398
9.
Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk.
Dis Model Mech
; 15(3)2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964047
10.
Dietary intervention improves health metrics and life expectancy of the genetically obese Titan mouse.
Commun Biol
; 5(1): 408, 2022 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35505192
11.
Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice.
Nat Commun
; 13(1): 6830, 2022 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369285
12.
Disruption of paternal circadian rhythm affects metabolic health in male offspring via nongerm cell factors.
Sci Adv
; 7(22)2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34039610
13.
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.
EMBO Mol Med
; 13(12): e14397, 2021 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750991
14.
iTAG-RNA Isolates Cell-Specific Transcriptional Responses to Environmental Stimuli and Identifies an RNA-Based Endocrine Axis.
Cell Rep
; 30(9): 3183-3194.e4, 2020 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32130917
15.
Increased estrogen to androgen ratio enhances immunoglobulin levels and impairs B cell function in male mice.
Sci Rep
; 10(1): 18334, 2020 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110090
16.
METTL6 is a tRNA m3C methyltransferase that regulates pluripotency and tumor cell growth.
Sci Adv
; 6(35): eaaz4551, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32923617
17.
Double knock-out of Hmga1 and Hipk2 genes causes perinatal death associated to respiratory distress and thyroid abnormalities in mice.
Cell Death Dis
; 10(10): 747, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31582725
18.
High mobility group A1 protein modulates autophagy in cancer cells.
Cell Death Differ
; 24(11): 1948-1962, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777374
19.
Hmga1 null mouse embryonic fibroblasts display downregulation of spindle assembly checkpoint gene expression associated to nuclear and karyotypic abnormalities.
Cell Cycle
; 15(6): 812-8, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26889953
20.
Deregulation of HMGA1 expression induces chromosome instability through regulation of spindle assembly checkpoint genes.
Oncotarget
; 6(19): 17342-53, 2015 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26009897