Detalhe da pesquisa
1.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Proc Natl Acad Sci U S A
; 120(9): e2102569120, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802443
2.
Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.
Nucleic Acids Res
; 51(2): 712-727, 2023 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537210
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482924
4.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
J Med Genet
; 60(3): 294-300, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790350
5.
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Hum Mol Genet
; 28(16): 2720-2737, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31042281
6.
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Hum Mol Genet
; 28(5): 778-795, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388224
7.
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Hum Mol Genet
; 27(2): 266-282, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121203
8.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet
; 100(2): 323-333, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28089251
9.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Am J Hum Genet
; 98(5): 971-980, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108797
10.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS Genet
; 12(3): e1005894, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26967905
11.
Hepatocyte growth factor signaling in intrapancreatic ductal cells drives pancreatic morphogenesis.
PLoS Genet
; 9(7): e1003650, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23935514
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-17558409
13.
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.
Am J Hum Genet
; 100(2): 372, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28157543
14.
Sox9b is a key regulator of pancreaticobiliary ductal system development.
PLoS Genet
; 8(6): e1002754, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22719264
15.
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.
Front Mol Biosci
; 10: 1254691, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916190
16.
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Eur J Med Genet
; 66(11): 104852, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758168
17.
A missense mutation in the proprotein convertase gene furinb causes hepatic cystogenesis during liver development in zebrafish.
Hepatol Commun
; 6(11): 3083-3097, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36017776
18.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-19755384
19.
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
PLoS One
; 15(7): e0235655, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32628740
20.
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.
Nat Commun
; 6: 8666, 2015 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26487268