Detalhe da pesquisa
1.
Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues.
Development
; 150(13)2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37376888
2.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397207
3.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clin Genet
; 103(3): 330-334, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273371
4.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Proc Natl Acad Sci U S A
; 117(2): 1113-1118, 2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879347
5.
microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs.
RNA
; 26(11): 1575-1588, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32660984
6.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Am J Hum Genet
; 103(4): 612-620, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269812
7.
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Proc Natl Acad Sci U S A
; 115(49): 12489-12494, 2018 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30446612
8.
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Hum Mol Genet
; 26(23): 4657-4667, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973549
9.
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.
Proc Natl Acad Sci U S A
; 111(27): 9893-8, 2014 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-24946806
10.
WT1 regulates murine hematopoiesis via maintenance of VEGF isoform ratio.
Blood
; 122(2): 188-92, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23699597
11.
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Mol Genet Genomic Med
; 9(12): e1603, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486889
12.
Increased hippocampal excitability in miR-324-null mice.
Sci Rep
; 11(1): 10452, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34001919
13.
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.
Sci Rep
; 9(1): 10828, 2019 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31346239
14.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Eur J Hum Genet
; 26(12): 1791-1796, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30002499
15.
Expression profiling of antisense transcripts on DNA arrays.
Physiol Genomics
; 28(3): 294-300, 2007 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-17105753
16.
Mice lacking the 68-amino-acid, mammal-specific N-terminal extension of WT1 develop normally and are fertile.
Mol Cell Biol
; 23(7): 2608-13, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12640141
17.
Faithful expression of a tagged Fugu WT1 protein from a genomic transgene in zebrafish: efficient splicing of pufferfish genes in zebrafish but not mice.
Nucleic Acids Res
; 31(11): 2795-802, 2003 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12771206
18.
K-ras proto-oncogene exhibits tumor suppressor activity as its absence promotes tumorigenesis in murine teratomas.
Mol Cancer Res
; 1(11): 820-5, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-14517344
19.
Effects on kidney disease, fertility and development in mice inheriting a protein-truncating Denys-Drash syndrome allele (Wt1tmT396).
Transgenic Res
; 17(3): 459-75, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18040647
20.
Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.
Hum Mol Genet
; 12(18): 2379-94, 2003 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12915483