Detalhe da pesquisa
1.
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Blood
; 141(22): 2713-2726, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952639
2.
The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.
Hum Mol Genet
; 31(22): 3777-3788, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35660865
3.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Am J Hum Genet
; 106(6): 779-792, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413283
4.
The pentose phosphate pathway constitutes a major metabolic hub in pathogenic Francisella.
PLoS Pathog
; 17(8): e1009326, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34339477
5.
Three-dimensional architecture of nephrons in the normal and cystic kidney.
Kidney Int
; 99(3): 632-645, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137337
6.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Am J Hum Genet
; 102(2): 266-277, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395073
7.
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.
Hum Mol Genet
; 27(1): 1-13, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040558
8.
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.
Hum Mol Genet
; 27(15): 2689-2702, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29771326
9.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Am J Hum Genet
; 101(6): 1006-1012, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198720
10.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28757203
11.
XPO1 regulates erythroid differentiation and is a new target for the treatment of ß-thalassemia.
Haematologica
; 105(9): 2240-2249, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054049
12.
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
FASEB J
; 33(2): 2707-2718, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303737
13.
Kinesin-1 Is a New Actor Involved in Platelet Secretion and Thrombus Stability.
Arterioscler Thromb Vasc Biol
; 38(5): 1037-1051, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29519941
14.
LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.
Traffic
; 16(2): 191-203, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425525
15.
Experimental Evidence of Bacterial Colonization of Human Coronary Microvasculature and Myocardial Tissue during Meningococcemia.
Infect Immun
; 84(10): 3017-23, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27481255
16.
Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex.
Blood
; 119(17): 3879-89, 2012 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22308290
17.
PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritis.
J Clin Invest
; 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38842935
18.
Mitochondrial dynamics and metabolic regulation control T cell fate in the thymus.
Front Immunol
; 14: 1270268, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288115
19.
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Biomed Pharmacother
; 163: 114813, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37150031
20.
The AMPK-Sirtuin 1-YAP axis is regulated by fluid flow intensity and controls autophagy flux in kidney epithelial cells.
Nat Commun
; 14(1): 8056, 2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38052799