Detalhe da pesquisa
1.
The rRNA m6A methyltransferase METTL5 is involved in pluripotency and developmental programs.
Genes Dev
; 34(9-10): 715-729, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32217665
2.
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
3.
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
4.
A rationale for considering heart/brain axis control in neuropsychiatric disease.
Mamm Genome
; 34(2): 331-350, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36538124
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.
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
7.
Soft windowing application to improve analysis of high-throughput phenotyping data.
Bioinformatics
; 36(5): 1492-1500, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591642
8.
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
9.
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
10.
The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.
EMBO Rep
; 18(11): 2015-2029, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28893864
11.
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
12.
Interplay between H1 and HMGN epigenetically regulates OLIG1&2 expression and oligodendrocyte differentiation.
Nucleic Acids Res
; 45(6): 3031-3045, 2017 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923998
13.
Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.
EMBO J
; 33(18): 2020-39, 2014 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25063673
14.
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
15.
Lifetime study in mice after acute low-dose ionizing radiation: a multifactorial study with special focus on cataract risk.
Radiat Environ Biophys
; 57(2): 99-113, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29327260
16.
Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.
Genome Res
; 24(4): 592-603, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24642863
17.
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.
Acta Neuropathol
; 134(2): 241-254, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28409281
18.
Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice.
J Biomed Sci
; 24(1): 57, 2017 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28818080
19.
Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
Mamm Genome
; 27(11-12): 587-598, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671791
20.
MiR-34a deficiency accelerates medulloblastoma formation in vivo.
Int J Cancer
; 136(10): 2293-303, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348795