Detalhe da pesquisa
1.
A mutation in F-actin polymerization factor suppresses the distal arthrogryposis type 5 PIEZO2 pathogenic variant in Caenorhabditis elegans.
Development
; 151(4)2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38349741
2.
Allele-specific mitochondrial stress induced by Multiple Mitochondrial Dysfunctions Syndrome 1 pathogenic mutations modeled in Caenorhabditis elegans.
PLoS Genet
; 17(8): e1009771, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34449775
3.
A complement factor H homolog, heparan sulfation, and syndecan maintain inversin compartment boundaries in C. elegans cilia.
Proc Natl Acad Sci U S A
; 118(16)2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33859044
4.
Loss of the seipin gene perturbs eggshell formation in Caenorhabditiselegans.
Development
; 147(20)2020 10 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820022
5.
Mutation of NEKL-4/NEK10 and TTLL genes suppress neuronal ciliary degeneration caused by loss of CCPP-1 deglutamylase function.
PLoS Genet
; 16(10): e1009052, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33064774
6.
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Hum Mol Genet
; 26(11): 2118-2132, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369379
7.
Novel functions for the RNA-binding protein ETR-1 in Caenorhabditis elegans reproduction and engulfment of germline apoptotic cell corpses.
Dev Biol
; 429(1): 306-320, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28648844
8.
From phenologs to silent suppressors: Identifying potential therapeutic targets for human disease.
Mol Reprod Dev
; 84(11): 1118-1132, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28834577
9.
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans.
Dis Model Mech
; 17(6)2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38454882
10.
International Cohort of Neonatal Timothy Syndrome.
Neonatology
; 121(3): 388-395, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38211567
11.
A Natural History Study of Timothy Syndrome.
medRxiv
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38826393
12.
Protein phosphatase 5 is a negative regulator of separase function during cortical granule exocytosis in C. elegans.
J Cell Sci
; 124(Pt 17): 2903-13, 2011 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21878498
13.
Evaluation of the Fluids Mixing Enclosure System for Life Science Experiments During a Commercial Caenorhabditis elegans Spaceflight Experiment.
Adv Space Res
; 51(12): 2241-2250, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794777
14.
Transmembrane protein 120A (TMEM-120A/TACAN) coordinates with PIEZO channel during Caenorhabditis elegans reproductive regulation.
G3 (Bethesda)
; 14(1)2023 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38051962
15.
copa-1 mutants experience heightened endoplasmic reticulum stress sensitivity in a C. elegans COPA Syndrome model.
MicroPubl Biol
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748043
16.
Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in C. elegans.
bioRxiv
; 2023 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37790539
17.
A missense mutation in the C. elegans src-2 tyrosine-protein kinase reduces brood size and enhances embryonic morphogenesis defects in src-1(RNAi) conditions.
MicroPubl Biol
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37497183
18.
Mutation in F-actin Polymerization Factor Suppresses Distal Arthrogryposis Type 5 (DA5) PIEZO2 Pathogenic Variant in Caenorhabditis elegans.
bioRxiv
; 2023 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37546771
19.
Using CRISPR knock-in of fluorescent tags to examine isoform-specific expression of EGL-19 in C. elegans.
MicroPubl Biol
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746064
20.
Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1.
Dis Model Mech
; 16(2)2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645076