Detalles de la búsqueda
1.
Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.
J Clin Immunol
; 42(4): 783-797, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35257272
2.
Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia.
Clin Immunol
; 230: 108802, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34298181
3.
Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity.
J Allergy Clin Immunol
; 146(5): 967-983, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32827505
4.
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999-2019).
J Clin Immunol
; 40(7): 1026-1037, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32803625
5.
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
J Med Genet
; 56(5): 308-316, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30819809
6.
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.
Mol Cell Biochem
; 438(1-2): 153-166, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28744812
7.
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Int J Mol Sci
; 17(8)2016 Jul 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-27483260
8.
Centrosomal Che-1 protein is involved in the regulation of mitosis and DNA damage response by mediating pericentrin (PCNT)-dependent Chk1 protein localization.
J Biol Chem
; 288(32): 23348-57, 2013 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-23798705
9.
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.
Mol Vis
; 20: 325-33, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24672218
10.
Forward subtractive libraries containing genes transactivated by dexamethasone in ataxia-telangiectasia lymphoblastoid cells.
Mol Cell Biochem
; 392(1-2): 13-30, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24627244
11.
Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility.
Arch Ital Urol Androl
; 86(3): 171-4, 2014 Sep 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-25308578
12.
Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.
J Biol Chem
; 287(49): 41352-63, 2012 Nov 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-23055520
13.
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.
Mov Disord
; 27(10): 1312-6, 2012 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22927201
14.
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
J Cell Biol
; 177(6): 969-79, 2007 Jun 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-17562789
15.
Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone.
Front Genet
; 12: 759467, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34759960
16.
Identification of a potential "hotspot" DNA region in the RUNX1 gene targeted by mitoxantrone in therapy-related acute myeloid leukemia with t(16;21) translocation.
Genes Chromosomes Cancer
; 48(3): 213-21, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19023877
17.
Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells.
Biochim Biophys Acta
; 1777(1): 66-73, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18047827
18.
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Ann Hum Genet
; 73(Pt 5): 532-9, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19691550
19.
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
Am J Med Genet A
; 149A(11): 2452-6, 2009 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19839044
20.
Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38.
PLoS One
; 14(5): e0216668, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31107893