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1.
Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues.
Development
; 150(13)2023 07 01.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35397207
3.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clin Genet
; 103(3): 330-334, 2023 03.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32660984
6.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Hum Mutat
; 42(10): 1221-1228, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34212438
7.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Am J Hum Genet
; 103(4): 612-620, 2018 10 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30269812
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30446612
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28973549
10.
Disposition and metabolism of [14C]-galunisertib, a TGF-ßRI kinase/ALK5 inhibitor, following oral administration in healthy subjects and mechanistic prediction of the effect of itraconazole on galunisertib pharmacokinetics.
Xenobiotica
; 48(4): 382-399, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28436712
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24946806
12.
Biomarker and Histopathology Evaluation of Patients with Recurrent Glioblastoma Treated with Galunisertib, Lomustine, or the Combination of Galunisertib and Lomustine.
Int J Mol Sci
; 18(5)2017 May 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28481241
13.
WT1 regulates murine hematopoiesis via maintenance of VEGF isoform ratio.
Blood
; 122(2): 188-92, 2013 Jul 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-23699597
14.
Defining a therapeutic window for the novel TGF-ß inhibitor LY2157299 monohydrate based on a pharmacokinetic/pharmacodynamic model.
Br J Clin Pharmacol
; 77(5): 796-807, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24868575
15.
Biochemical and functional interaction between ZNF224 and ZNF255, two members of the Kruppel-like zinc-finger protein family and WT1 protein isoforms.
Hum Mol Genet
; 19(18): 3544-56, 2010 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-20591825
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33486889
17.
Increased hippocampal excitability in miR-324-null mice.
Sci Rep
; 11(1): 10452, 2021 05 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-34001919
18.
Population pharmacokinetics and exposure-overall survival analysis of the transforming growth factor-ß inhibitor galunisertib in patients with pancreatic cancer.
Cancer Chemother Pharmacol
; 84(5): 1003-1015, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-31482224
19.
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.
Sci Rep
; 9(1): 10828, 2019 07 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-31346239
20.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Eur J Hum Genet
; 26(12): 1791-1796, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30002499