Detalhe da pesquisa
1.
Systematic expression analysis of plasticity-related genes in mouse brain development brings PRG4 into play.
Dev Dyn
; 251(4): 714-728, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622503
2.
Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.
Int J Mol Sci
; 23(13)2022 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806195
3.
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
J Hum Genet
; 66(12): 1159-1167, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211111
4.
The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.
Int J Mol Sci
; 22(7)2021 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33808286
5.
Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants.
J Bacteriol
; 202(5)2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843798
6.
Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa.
J Gene Med
; 22(10): e3211, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367544
7.
Translational Read-Through Therapy of RPGR Nonsense Mutations.
Int J Mol Sci
; 21(22)2020 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33182541
8.
Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
Int J Mol Sci
; 21(12)2020 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32599915
9.
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Am J Med Genet A
; 179(12): 2447-2453, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512363
10.
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Mol Biol Rep
; 46(4): 4507-4516, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270756
11.
A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1.
Lipids Health Dis
; 18(1): 146, 2019 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31248418
12.
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.
Int J Mol Sci
; 19(3)2018 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518907
13.
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
Hum Mol Genet
; 22(16): 3218-26, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23578822
14.
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Ann Neurol
; 75(1): 147-54, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24272827
15.
Rich microbial and depolymerising diversity in Antarctic krill gut.
Microbiol Spectr
; 12(4): e0403523, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466097
16.
In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina.
Cells
; 12(6)2023 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980294
17.
Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations.
Life Sci Alliance
; 6(10)2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541846
18.
Sensitive and selective phenol sensing in denitrifying Aromatoleum aromaticum EbN1T.
Microbiol Spectr
; 11(6): e0210023, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823660
19.
mRNA splicing is modulated by intronic microRNAs.
iScience
; 26(10): 107723, 2023 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37692287
20.
Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.
Mol Ther
; 19(5): 936-41, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21326217