Search details
1.
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Cell
; 150(3): 533-48, 2012 Aug 03.
Article
in English
| MEDLINE | ID: mdl-22863007
2.
Advances and potential of regenerative medicine in pediatric nephrology.
Pediatr Nephrol
; 39(2): 383-395, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37400705
3.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Kidney Int
; 104(5): 995-1007, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37598857
4.
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies.
Mol Cell
; 51(4): 423-39, 2013 Aug 22.
Article
in English
| MEDLINE | ID: mdl-23973373
5.
Inactivation of Apoptosis Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisis.
Kidney Int
; 95(4): 846-858, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30770218
6.
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
J Cell Sci
; 128(24): 4550-9, 2015 Dec 15.
Article
in English
| MEDLINE | ID: mdl-26546361
7.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
J Med Genet
; 53(1): 62-72, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26490104
8.
Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.
PLoS Genet
; 10(10): e1004594, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25340510
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.
Article
in English
| MEDLINE | ID: mdl-24946806
10.
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Am J Med Genet A
; 170(6): 1566-9, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26892345
11.
Nephronophthisis: should we target cysts or fibrosis?
Pediatr Nephrol
; 31(4): 545-54, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26219413
12.
DL-propargylglycine reduces blood pressure and renal injury but increases kidney weight in angiotensin-II infused rats.
Nitric Oxide
; 49: 56-66, 2015 Sep 15.
Article
in English
| MEDLINE | ID: mdl-26192363
13.
Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.
J Am Soc Nephrol
; 25(11): 2573-83, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-24722439
14.
DNA methylation levels within the CD14 promoter region are lower in placentas of mothers living on a farm.
Allergy
; 67(7): 895-903, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22564189
15.
Primary cilia suppress Ripk3-mediated necroptosis.
Cell Death Discov
; 8(1): 477, 2022 Dec 02.
Article
in English
| MEDLINE | ID: mdl-36460631
16.
Soft, Dynamic Hydrogel Confinement Improves Kidney Organoid Lumen Morphology and Reduces Epithelial-Mesenchymal Transition in Culture.
Adv Sci (Weinh)
; 9(20): e2200543, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35567354
17.
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLoS One
; 14(5): e0216705, 2019.
Article
in English
| MEDLINE | ID: mdl-31095607
18.
Urine-derived cells: a promising diagnostic tool in Fabry disease patients.
Sci Rep
; 8(1): 11042, 2018 07 23.
Article
in English
| MEDLINE | ID: mdl-30038331
19.
Environmental Influences on Endothelial to Mesenchymal Transition in Developing Implanted Cardiovascular Tissue-Engineered Grafts.
Tissue Eng Part B Rev
; 22(1): 58-67, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26414174
20.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
Nat Cell Biol
; 18(1): 122-31, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26595381