Detalhe da pesquisa
1.
Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema.
Physiol Rev
; 101(4): 1809-1871, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33507128
2.
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Hum Mol Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676400
3.
Cytokine-Mediated Degradation of the Transcription Factor ERG Impacts the Pulmonary Vascular Response to Systemic Inflammatory Challenge.
Arterioscler Thromb Vasc Biol
; 43(8): 1412-1428, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317853
4.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
5.
Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?
J Physiol
; 596(6): 985-992, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29331020
6.
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.
Int J Mol Sci
; 19(8)2018 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30071673
7.
Novel domain architectures and functional determinants in atypical annexins revealed by phylogenomic analysis.
Biol Chem
; 398(7): 751-763, 2017 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002020
8.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1376-1377, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040196
9.
The transcription factor Erg controls endothelial cell quiescence by repressing activity of nuclear factor (NF)-κB p65.
J Biol Chem
; 287(15): 12331-42, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22337883
10.
Cytokine-Mediated Degradation of the Transcription Factor ERG Impacts the Pulmonary Vascular Response to Systemic Inflammatory Challenge.
bioRxiv
; 2023 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798267
11.
P-selectin mobility undergoes a sol-gel transition as it diffuses from exocytosis sites into the cell membrane.
Nat Commun
; 13(1): 3031, 2022 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35641503
12.
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nat Commun
; 10(1): 1951, 2019 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028252
13.
Deciphering function and mechanism of calcium-binding proteins from their evolutionary imprints.
Biochim Biophys Acta
; 1763(11): 1238-49, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17092580
14.
VIPAR, a quantitative approach to 3D histopathology applied to lymphatic malformations.
JCI Insight
; 2(16)2017 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28814672
15.
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
J Clin Invest
; 126(8): 3080-8, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27400125
16.
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nat Commun
; 6: 8085, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333996