Detalhe da pesquisa
1.
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Cell
; 186(6): 1162-1178.e20, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36931244
2.
Pluripotency of a founding field: rebranding developmental biology.
Development
; 151(3)2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38345109
3.
TMED2 binding restricts SMO to the ER and Golgi compartments.
PLoS Biol
; 20(3): e3001596, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353806
4.
Fibroblast Growth Factor 6.
Differentiation
; 137: 100780, 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38626632
5.
Sf3b4 regulates chromatin remodeler splicing and Hox expression.
Differentiation
; 131: 59-73, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167859
6.
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
Hum Mol Genet
; 30(9): 739-757, 2021 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33601405
7.
Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion.
Int J Mol Sci
; 23(16)2022 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012294
8.
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Dev Dyn
; 249(8): 924-945, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32315467
9.
TMED2/emp24 is required in both the chorion and the allantois for placental labyrinth layer development.
Dev Biol
; 444(1): 20-32, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30236446
10.
Transmembrane emp24 domain proteins in development and disease.
Genet Res (Camb)
; 101: e14, 2019 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31878985
11.
Low Dietary Folate Interacts with MTHFD1 Synthetase Deficiency in Mice, a Model for the R653Q Variant, to Increase Incidence of Developmental Delays and Defects.
J Nutr
; 148(4): 501-509, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659962
12.
Editorial from the new Editors-in-Chief of 'Differentiation'.
Differentiation
; 124: 60, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35219897
13.
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
Am J Med Genet A
; 170(9): 2310-21, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375131
14.
MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
Birth Defects Res A Clin Mol Teratol
; 103(12): 1031-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26408344
15.
The Mmachc gene is required for pre-implantation embryogenesis in the mouse.
Mol Genet Metab
; 112(3): 198-204, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889031
16.
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
J Med Genet
; 50(2): 80-90, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23231787
17.
During embryogenesis, esrp1 expression is restricted to a subset of epithelial cells and is associated with splicing of a number of developmentally important genes.
Dev Dyn
; 242(3): 281-90, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23233200
18.
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
Am J Hum Genet
; 87(4): 553-9, 2010 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20887961
19.
The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.
Mol Genet Metab
; 107(3): 368-74, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022071
20.
The imperative for scientific societies to change the face of academia: Recommendations for immediate action.
Anat Rec (Hoboken)
; 305(4): 1019-1031, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418322