Detalhe da pesquisa
1.
A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.
J Pediatr
; 219: 196-201.e1, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32037152
2.
Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome.
Pediatr Blood Cancer
; 66(5): e27597, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30604473
3.
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.
Br J Haematol
; 185(3): 627-630, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30198570
4.
Phospholipase C-ß3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells.
J Immunol
; 186(8): 4946-58, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21411730
5.
Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients.
Am J Med Genet A
; 158A(3): 567-73, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22315206
6.
Modulators of sphingolipid metabolism reduce lung inflammation.
Am J Respir Cell Mol Biol
; 45(4): 825-33, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21659660
7.
Trimethylangelicin reduces IL-8 transcription and potentiates CFTR function.
Am J Physiol Lung Cell Mol Physiol
; 300(3): L380-90, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21148790
8.
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Blood Cells Mol Dis
; 60: 33-5, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519942
9.
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
Clin Chem Lab Med
; 49(1): 49-54, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21077791
10.
Virtual screening against nuclear factor κB (NF-κB) of a focus library: Identification of bioactive furocoumarin derivatives inhibiting NF-κB dependent biological functions involved in cystic fibrosis.
Bioorg Med Chem
; 18(23): 8341-9, 2010 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20980154
11.
Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.
Br J Haematol
; 165(4): 573-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24484588
12.
Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.
BMJ Open
; 9(1): e022617, 2019 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30782681
13.
Transcription factor oligodeoxynucleotides to NF-kappaB inhibit transcription of IL-8 in bronchial cells.
Am J Respir Cell Mol Biol
; 39(1): 86-96, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18258920
14.
Docking of molecules identified in bioactive medicinal plants extracts into the p50 NF-kappaB transcription factor: correlation with inhibition of NF-kappaB/DNA interactions and inhibitory effects on IL-8 gene expression.
BMC Struct Biol
; 8: 38, 2008 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-18768082
15.
Pyrogallol, an active compound from the medicinal plant Emblica officinalis, regulates expression of pro-inflammatory genes in bronchial epithelial cells.
Int Immunopharmacol
; 8(12): 1672-80, 2008 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-18760383
16.
Anti-inflammatory effect of miglustat in bronchial epithelial cells.
J Cyst Fibros
; 7(6): 555-65, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18815075
17.
Incidence of Shwachman-Diamond syndrome.
Pediatr Blood Cancer
; 59(7): 1334-5, 2012 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887728
18.
ß-Sitosterol Reduces the Expression of Chemotactic Cytokine Genes in Cystic Fibrosis Bronchial Epithelial Cells.
Front Pharmacol
; 8: 236, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28553226
19.
The GCC repeat length in the 5'UTR of MRP1 gene is polymorphic: a functional characterization of its relevance for cystic fibrosis.
BMC Med Genet
; 7: 7, 2006 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-16464259
20.
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
Hum Mutat
; 25(4): 410, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15776428