Detalhe da pesquisa
1.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426733
2.
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Am J Hum Genet
; 97(6): 837-47, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637977
3.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498505
4.
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
Am J Hum Genet
; 89(5): 595-606, 2011 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019272
5.
FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function.
Bone Rep
; 18: 101668, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909664
6.
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Hum Mutat
; 33(4): 665-73, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190451
7.
TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.
J Recept Signal Transduct Res
; 32(3): 150-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22414221
8.
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970420
9.
Tissue-type plasminogen activator requires a co-receptor to enhance NMDA receptor function.
J Neurochem
; 107(4): 1091-101, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18796005
10.
Two conserved regions within the tissue-type plasminogen activator gene promoter mediate regulation by brain-derived neurotrophic factor.
FEBS J
; 274(9): 2411-23, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17419735
11.
Oncostatin M is a neuroprotective cytokine that inhibits excitotoxic injury in vitro and in vivo.
FASEB J
; 20(13): 2369-71, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17023520
12.
1 kb of 5' flanking sequence from mouse MC4R gene is sufficient for tissue specific expression in a transgenic mouse.
Mol Cell Endocrinol
; 239(1-2): 63-71, 2005 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15950372