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1.
Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
Proc Natl Acad Sci U S A
; 119(18): e2115960119, 2022 05 03.
Article
in English
| MEDLINE | ID: mdl-35482924
2.
The renal inflammatory network of nephronophthisis.
Hum Mol Genet
; 31(13): 2121-2136, 2022 07 07.
Article
in English
| MEDLINE | ID: mdl-35043953
3.
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.
Article
in English
| MEDLINE | ID: mdl-31879347
4.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
; 101(5): 803-814, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100091
5.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet
; 100(2): 323-333, 2017 02 02.
Article
in English
| MEDLINE | ID: mdl-28089251
6.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet
; 12(3): e1005894, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26967905
7.
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Am J Hum Genet
; 94(2): 288-94, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24439109
8.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Nat Genet
; 39(7): 875-81, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17558409
9.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet
; 100(2): 372, 2017 02 02.
Article
in English
| MEDLINE | ID: mdl-28157543
10.
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
J Am Soc Nephrol
; 25(11): 2435-43, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-24876116
11.
Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.
Hum Mol Genet
; 20(13): 2611-27, 2011 Jul 01.
Article
in English
| MEDLINE | ID: mdl-21498478
12.
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
Nat Genet
; 32(2): 300-5, 2002 Oct.
Article
in English
| MEDLINE | ID: mdl-12244321
13.
The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia.
J Cell Sci
; 123(Pt 10): 1785-95, 2010 May 15.
Article
in English
| MEDLINE | ID: mdl-20427320
14.
Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.
Hum Mol Genet
; 18(24): 4711-23, 2009 Dec 15.
Article
in English
| MEDLINE | ID: mdl-19755384
15.
Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity.
J Cell Biol
; 198(5): 927-40, 2012 Sep 03.
Article
in English
| MEDLINE | ID: mdl-22927466
16.
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
Hum Mol Genet
; 14(5): 645-56, 2005 Mar 01.
Article
in English
| MEDLINE | ID: mdl-15661758
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