Detalhe da pesquisa
1.
Gene- and Species-Specific Hox mRNA Translation by Ribosome Expansion Segments.
Mol Cell
; 80(6): 980-995.e13, 2020 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202249
2.
Direct identification of A-to-I editing sites with nanopore native RNA sequencing.
Nat Methods
; 19(7): 833-844, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35697834
3.
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Nucleic Acids Res
; 51(14): 7269-7287, 2023 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334829
4.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1301-1317, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038740
5.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
6.
Specialized ribosomes: a new frontier in gene regulation and organismal biology.
Nat Rev Mol Cell Biol
; 13(6): 355-69, 2012 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-22617470
7.
Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in Xenopus.
BMC Biol
; 21(1): 251, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946231
8.
A novel variant in AFF3 underlying isolated syndactyly.
Clin Genet
; 103(3): 341-345, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273379
9.
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
J Hum Genet
; 67(5): 253-259, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34857885
10.
RNA regulons in Hox 5' UTRs confer ribosome specificity to gene regulation.
Nature
; 517(7532): 33-8, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25409156
11.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Res
; 47(6): 2822-2839, 2019 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30698748
12.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Am J Hum Genet
; 100(4): 659-665, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28318499
13.
FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
J Biol Chem
; 293(25): 9841-9853, 2018 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29748383
14.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1356, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214448
15.
Cis-regulatory RNA elements that regulate specialized ribosome activity.
RNA Biol
; 12(10): 1083-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26327194
16.
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Nat Commun
; 14(1): 5466, 2023 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37749075
17.
HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring.
Nat Commun
; 13(1): 3583, 2022 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35739109
18.
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome.
Biomedicines
; 9(7)2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34209568
19.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nat Genet
; 49(2): 249-255, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28067911