Detalhe da pesquisa
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-22863007
2.
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Hum Mol Genet
; 31(9): 1357-1369, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740236
3.
Mitigation of portal fibrosis and cholestatic liver disease in ANKS6-deficient livers by macrophage depletion.
FASEB J
; 36(2): e22157, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032404
4.
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1.
Kidney Int
; 102(5): 1042-1056, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931300
5.
Loss of Anks6 leads to YAP deficiency and liver abnormalities.
Hum Mol Genet
; 29(18): 3064-3080, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886109
6.
Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.
Pediatr Nephrol
; 36(11): 3515-3527, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33479824
7.
Delayed onset of smooth muscle cell differentiation leads to hydroureter formation in mice with conditional loss of the zinc finger transcription factor gene Gata2 in the ureteric mesenchyme.
J Pathol
; 248(4): 452-463, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30916783
8.
Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.
J Am Soc Nephrol
; 30(3): 393-405, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737270
9.
Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys.
Kidney Int
; 96(2): 320-326, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31248650
10.
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Am J Hum Genet
; 96(1): 81-92, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557784
11.
Nephric duct insertion requires EphA4/EphA7 signaling from the pericloacal mesenchyme.
Development
; 141(17): 3420-30, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25139858
12.
Osteoclast stimulation factor 1 (Ostf1) KNOCKOUT increases trabecular bone mass in mice.
Mamm Genome
; 28(11-12): 498-514, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28936620
13.
A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis.
J Am Soc Nephrol
; 27(12): 3552-3559, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27026368
14.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney Int
; 89(2): 468-475, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489029
15.
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
Am J Hum Genet
; 93(4): 672-86, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24094744
16.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Am J Hum Genet
; 93(5): 915-25, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24140113
17.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Am J Hum Genet
; 93(2): 336-45, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891469
18.
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.
Biochim Biophys Acta
; 1842(1): 1-6, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24140869
19.
Canonical Wnt signaling regulates smooth muscle precursor development in the mouse ureter.
Development
; 139(17): 3099-108, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22833126
20.
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.
J Am Soc Nephrol
; 25(11): 2573-83, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24722439