Detalhe da pesquisa
1.
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
PLoS Genet
; 18(4): e1010192, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482848
2.
Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles.
Int J Mol Sci
; 24(22)2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003660
3.
An Unusual Case of Transient Cardiac Calcification Identified on Antenatal Echocardiography: A Generalized Arterial Calcification of Infancy (GACI) Like Presentation.
Calcif Tissue Int
; 111(6): 646-652, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36220940
4.
Hereditary Disorders of Cardiovascular Calcification.
Arterioscler Thromb Vasc Biol
; 41(1): 35-47, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33176451
5.
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Clin Genet
; 97(1): 209-221, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497877
6.
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
Am J Hum Genet
; 96(2): 275-82, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620204
7.
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Curr Osteoporos Rep
; 15(4): 255-270, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28585220
8.
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Hum Mutat
; 37(11): 1190-1201, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27467858
9.
Lmbrd1 expression is essential for the initiation of gastrulation.
J Cell Mol Med
; 20(8): 1523-33, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061115
10.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Am J Hum Genet
; 90(1): 25-39, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22209248
11.
Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.
Circ Res
; 109(5): 578-92, 2011 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21852556
12.
A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method.
J Clin Endocrinol Metab
; 107(1): 109-118, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498693
13.
Npp1 promotes atherosclerosis in ApoE knockout mice.
J Cell Mol Med
; 15(11): 2273-83, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21477221
14.
Expression of NPP1 is regulated during atheromatous plaque calcification.
J Cell Mol Med
; 15(2): 220-31, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20015201
15.
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.
Eur J Pediatr
; 170(12): 1585-90, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21932012
16.
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
J Bone Miner Res
; 36(11): 2193-2202, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34355424
17.
TIP47, a lipid cargo protein involved in macrophage triglyceride metabolism.
Arterioscler Thromb Vasc Biol
; 29(5): 767-73, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19286631
18.
Reversion of arterial calcification by elastin-targeted DTPA-HSA nanoparticles.
Eur J Pharm Biopharm
; 150: 108-119, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32151731
19.
Alkaline Phosphatases Account for Low Plasma Levels of Inorganic Pyrophosphate in Chronic Kidney Disease.
Front Cell Dev Biol
; 8: 586831, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33425894
20.
Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line.
Stem Cell Res
; 46: 101855, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32512309