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.
A defective structural zipper in photoreceptors causes inherited blindness.
PLoS Biol
; 20(6): e3001672, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714125
3.
PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion.
Hum Mol Genet
; 31(15): 2560-2570, 2022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253837
4.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
5.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Proc Natl Acad Sci U S A
; 117(18): 9922-9931, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312818
6.
Moonlighting of mitotic regulators in cilium disassembly.
Cell Mol Life Sci
; 78(11): 4955-4972, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33860332
7.
A look into retinal organoids: methods, analytical techniques, and applications.
Cell Mol Life Sci
; 78(19-20): 6505-6532, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420069
8.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
PLoS Genet
; 15(4): e1008088, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034465
9.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
PLoS Genet
; 14(8): e1007602, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30148830
10.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228333
11.
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Am J Hum Genet
; 101(5): 824-832, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106825
12.
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
Am J Hum Genet
; 101(1): 23-36, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28625504
13.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
14.
Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis.
J Cell Sci
; 131(16)2018 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054381
15.
Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
Hum Mol Genet
; 26(21): 4190-4202, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973524
16.
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Am J Hum Genet
; 99(3): 770-776, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588451
17.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833328
18.
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.
Mol Ther
; 26(6): 1581-1593, 2018 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29673930
19.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Am J Hum Genet
; 97(6): 904-13, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637980
20.
Fluid shear stress increases transepithelial transport of Ca2+ in ciliated distal convoluted and connecting tubule cells.
FASEB J
; 31(5): 1796-1806, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28100643