The Noonan Syndrome Gene
Animals
Blood Vessels
/ abnormalities
Carcinoma, Lewis Lung
/ metabolism
Disease Models, Animal
Endosomal Sorting Complexes Required for Transport
/ metabolism
Endosomes
/ genetics
Endothelial Cells
/ drug effects
Haploinsufficiency
HeLa Cells
Hemorrhage
/ genetics
Humans
Lymphokines
/ genetics
Mice, Inbred C57BL
Mice, Knockout
Neovascularization, Pathologic
Noonan Syndrome
/ drug therapy
Phosphorylation
Platelet-Derived Growth Factor
/ genetics
Protein Kinase Inhibitors
/ pharmacology
Protein Transport
Quinazolines
/ pharmacology
Signal Transduction
Transcription Factors
/ deficiency
Ubiquitination
Vascular Endothelial Growth Factor Receptor-2
/ antagonists & inhibitors
Vascular Malformations
/ drug therapy
Noonan syndrome
cardiovascular disease
endothelial cells
tight junctions
ubiquitin
Journal
Circulation research
ISSN: 1524-4571
Titre abrégé: Circ Res
Pays: United States
ID NLM: 0047103
Informations de publication
Date de publication:
08 05 2020
08 05 2020
Historique:
pubmed:
17
3
2020
medline:
25
2
2021
entrez:
17
3
2020
Statut:
ppublish
Résumé
Noonan syndrome (NS) is one of the most frequent genetic disorders. Bleeding problems are among the most common, yet poorly defined complications associated with NS. A lack of consensus on the management of bleeding complications in patients with NS indicates an urgent need for new therapeutic approaches. Bleeding disorders have recently been described in patients with NS harboring mutations of LZTR1 (leucine zipper-like transcription regulator 1), an adaptor for CUL3 (CULLIN3) ubiquitin ligase complex. Here, we assessed the pathobiology of LZTR1-mediated bleeding disorders. Whole-body and vascular specific knockout of
Identifiants
pubmed: 32175818
doi: 10.1161/CIRCRESAHA.119.315730
pmc: PMC8575076
mid: NIHMS1750194
doi:
Substances chimiques
Endosomal Sorting Complexes Required for Transport
0
LZTR1 protein, mouse
0
Lymphokines
0
Pdgfd protein, mouse
0
Platelet-Derived Growth Factor
0
Protein Kinase Inhibitors
0
Quinazolines
0
Transcription Factors
0
Kdr protein, mouse
EC 2.7.10.1
Vascular Endothelial Growth Factor Receptor-2
EC 2.7.10.1
cediranib
NQU9IPY4K9
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1379-1393Subventions
Organisme : NHLBI NIH HHS
ID : R13 HL147501
Pays : United States
Références
J Biol Chem. 2016 May 6;291(19):10032-45
pubmed: 26884340
Dev Cell. 2009 Nov;17(5):712-23
pubmed: 19922875
Science. 2018 Dec 7;362(6419):1177-1182
pubmed: 30442762
Nat Genet. 2013 Oct;45(10):1141-9
pubmed: 23917401
Prenat Diagn. 1999 Jul;19(7):642-7
pubmed: 10419612
Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):E3119-27
pubmed: 23071298
J Clin Invest. 2016 Aug 1;126(8):2989-3005
pubmed: 27348588
World J Gastroenterol. 2007 Dec 7;13(45):5979-84
pubmed: 18023086
Pediatrics. 2014 May;133(5):e1299-304
pubmed: 24753526
Nature. 2010 May 27;465(7297):487-91
pubmed: 20445540
FASEB J. 2019 Jan;33(1):1124-1137
pubmed: 30102570
Hypertension. 2018 Feb;71(2):e1-e8
pubmed: 29279311
Pediatr Crit Care Med. 2005 May;6(3):352-4
pubmed: 15857538
Nat Struct Mol Biol. 2009 Jul;16(7):754-62
pubmed: 19525971
Genesis. 2008 Feb;46(2):74-80
pubmed: 18257043
PLoS One. 2016 Dec 22;11(12):e0168294
pubmed: 28006827
Nat Commun. 2014 Sep 08;5:4832
pubmed: 25198863
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79
pubmed: 21396583
Cell Commun Signal. 2015 Apr 10;13:24
pubmed: 25889964
Clin Exp Ophthalmol. 2013 Jan-Feb;41(1):63-72
pubmed: 22594647
J Cell Sci. 2007 May 15;120(Pt 10):1818-28
pubmed: 17502486
J Hum Genet. 2016 Jan;61(1):33-9
pubmed: 26446362
Development. 2000 Sep;127(18):3941-6
pubmed: 10952892
Genet Med. 2019 Jan;21(1):260
pubmed: 29959388
Nat Protoc. 2014 Jul;9(7):1592-606
pubmed: 24922269
AJR Am J Roentgenol. 1980 Jan;134(1):75-80
pubmed: 6766041
Cell. 2017 Jun 15;169(7):1327-1341.e23
pubmed: 28622513
Semin Pediatr Neurol. 2015 Dec;22(4):240-58
pubmed: 26706012
Eur J Med Genet. 2020 Jan;63(1):103617
pubmed: 30664951
J Biol Chem. 2016 Aug 5;291(32):16892-903
pubmed: 27298320
Am J Physiol Lung Cell Mol Physiol. 2004 Jul;287(1):L134-42
pubmed: 15033636
Lancet. 2017 May 6;389(10081):1857-1858
pubmed: 28495170
J Cell Biol. 2001 Apr 30;153(3):543-53
pubmed: 11331305
Mol Cancer Ther. 2011 May;10(5):861-73
pubmed: 21441409
J Biol Chem. 2014 Feb 21;289(8):4906-18
pubmed: 24407285
J Cell Biol. 2013 Aug 5;202(3):527-43
pubmed: 23897888
Anticancer Res. 2009 Dec;29(12):5065-76
pubmed: 20044618
Nat Genet. 2001 Dec;29(4):465-8
pubmed: 11704759
J Blood Med. 2018 Oct 23;9:185-192
pubmed: 30464668
Science. 2015 Dec 18;350(6267):1548-51
pubmed: 26634441
Sci Rep. 2017 Mar 22;7:45035
pubmed: 28327657
Exp Cell Res. 2009 May 15;315(9):1601-9
pubmed: 18930045
Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2160-5
pubmed: 16461457
Biosci Rep. 2015 Aug 18;35(5):
pubmed: 26285805
Lancet. 1992 Jan 4;339(8784):19-21
pubmed: 1345952
Nat Protoc. 2011 Dec 22;7(1):89-104
pubmed: 22193302
Prenat Diagn. 2011 Sep;31(9):833-40
pubmed: 21706501
Nat Commun. 2019 May 28;10(1):2350
pubmed: 31138815
Curr Opin Oncol. 2010 Jul;22(4):351-5
pubmed: 20485168
Lancet. 2013 Jan 26;381(9863):333-42
pubmed: 23312968
Acta Paediatr. 1996 Oct;85(10):1181-5
pubmed: 8922080
Genet Med. 2018 Oct;20(10):1175-1185
pubmed: 29469822
Pediatrics. 2007 Jun;119(6):e1325-31
pubmed: 17515436
Am J Med Genet. 1987 Aug;27(4):841-56
pubmed: 3321992
Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4470-5
pubmed: 27044097
PLoS Genet. 2018 Jun 22;14(6):e1007456
pubmed: 29933386
Clin Genet. 2019 Jun;95(6):693-703
pubmed: 30859559
Eur J Hum Genet. 2015 Jul;23(7):963-8
pubmed: 25335493
Sci Signal. 2017 Jan 31;10(464):
pubmed: 28143902
Nat Med. 2004 Aug;10(8):849-57
pubmed: 15273746
Hum Genet. 2019 Jan;138(1):21-35
pubmed: 30368668