Detalhe da pesquisa
1.
Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport.
EMBO J
; 43(7): 1257-1272, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38454149
2.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
3.
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Hum Mol Genet
; 27(11): 1927-1940, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29635513
4.
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
PLoS Genet
; 13(3): e1006679, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301481
5.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
6.
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.
Hum Mol Genet
; 22(19): 3858-68, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716571
7.
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
Am J Hum Genet
; 91(5): 897-905, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063620
8.
How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?
Philos Trans R Soc Lond B Biol Sci
; 379(1900): 20230045, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38432317
9.
A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis.
Sci Rep
; 13(1): 6783, 2023 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37100808
10.
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
Cells
; 12(22)2023 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37998397
11.
Putative roles of cilia in polycystic kidney disease.
Biochim Biophys Acta
; 1812(10): 1256-62, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21586324
12.
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
Hum Mutat
; 32(4): E2069-78, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412941
13.
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
EBioMedicine
; 71: 103530, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34455394
14.
Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction.
Nephrol Dial Transplant
; 25(1): 54-60, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19745106
15.
Generating Mutant Renal Cell Lines Using CRISPR Technologies.
Methods Mol Biol
; 2067: 323-340, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701460
16.
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Sci Rep
; 10(1): 13763, 2020 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792680
17.
Stochastic processes in development and disease.
Philos Trans R Soc Lond B Biol Sci
; 379(1900): 20230043, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38432319
18.
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.
F1000Res
; 8: 273, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231513
19.
An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.
Mol Syndromol
; 10(1-2): 98-114, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976283
20.
Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.
Elife
; 72018 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29658880