Detalhe da pesquisa
1.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34186028
2.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
3.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
medRxiv
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496416
4.
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
medRxiv
; 2023 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37662408
5.
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Neuron
; 109(2): 241-256.e9, 2021 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33220177
6.
cPGES/p23 is required for glucocorticoid receptor function and embryonic growth but not prostaglandin E2 synthesis.
Mol Cell Biol
; 27(12): 4416-30, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17438133
7.
ß-arrestin deficiency protects against pulmonary fibrosis in mice and prevents fibroblast invasion of extracellular matrix.
Sci Transl Med
; 3(74): 74ra23, 2011 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21411739
8.
Prostaglandin E2 protects lower airways against bronchoconstriction.
Am J Physiol Lung Cell Mol Physiol
; 290(1): L105-13, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16113047
9.
COX-2-derived prostacyclin protects against bleomycin-induced pulmonary fibrosis.
Am J Physiol Lung Cell Mol Physiol
; 291(2): L144-56, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16473862
10.
15-Hydroxyprostaglandin dehydrogenase is an in vivo suppressor of colon tumorigenesis.
Proc Natl Acad Sci U S A
; 103(32): 12098-102, 2006 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-16880406