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.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 105(4): 844-864, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154558
6.
A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice.
Cell
; 137(5): 961-71, 2009 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19490899
7.
Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction.
Mamm Genome
; 34(2): 229-243, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565314
8.
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
9.
Dietary digestible carbohydrates are associated with higher prevalence of asthma in humans and with aggravated lung allergic inflammation in mice.
Allergy
; 78(5): 1218-1233, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36424672
10.
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Mamm Genome
; 32(5): 332-349, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043061
11.
Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data.
PLoS Biol
; 16(4): e2005019, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659570
12.
Epigenetic alterations in longevity regulators, reduced life span, and exacerbated aging-related pathology in old father offspring mice.
Proc Natl Acad Sci U S A
; 115(10): E2348-E2357, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29467291
13.
A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes.
Mamm Genome
; 31(1-2): 30-48, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060626
14.
Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS.
Acta Neuropathol
; 140(2): 121-142, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32562018
15.
Murine tissue factor disulfide mutation causes a bleeding phenotype with sex specific organ pathology and lethality.
Haematologica
; 105(10): 2484-2495, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054088
16.
Glutathione peroxidase 4 and vitamin E control reticulocyte maturation, stress erythropoiesis and iron homeostasis.
Haematologica
; 105(4): 937-950, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31248967
17.
Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.
J Inherit Metab Dis
; 42(5): 839-849, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31111503
18.
Faim2 contributes to neuroprotection by erythropoietin in transient brain ischemia.
J Neurochem
; 145(3): 258-270, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315561
19.
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Biochem Biophys Res Commun
; 503(4): 2770-2777, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100055
20.
Functional compensation among HMGN variants modulates the DNase I hypersensitive sites at enhancers.
Genome Res
; 25(9): 1295-308, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26156321