Detalles de la búsqueda
1.
Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
Am J Hematol
; 93(4): 527-536, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29285795
2.
Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
Genes Chromosomes Cancer
; 56(1): 51-58, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27553422
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30198570
4.
A systems radiation biology approach to unravel the role of chronic low-dose-rate gamma-irradiation in inducing premature senescence in endothelial cells.
PLoS One
; 17(3): e0265281, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35286349
5.
Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta.
Matrix Biol
; 98: 1-20, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33798677
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24484588
7.
Predicting DNA damage foci and their experimental readout with 2D microscopy: a unified approach applied to photon and neutron exposures.
Sci Rep
; 9(1): 14019, 2019 09 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-31570741
8.
MODELLING γ-H2AX FOCI INDUCTION TO MIMIC LIMITATIONS IN THE SCORING TECHNIQUE.
Radiat Prot Dosimetry
; 183(1-2): 121-125, 2019 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30520984
9.
A Co-culture Method to Investigate the Crosstalk Between X-ray Irradiated Caco-2 Cells and PBMC.
J Vis Exp
; (131)2018 01 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-29443050
10.
Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.
Gene
; 647: 85-92, 2018 Mar 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29305977
11.
The Interplay between Radioresistant Caco-2 Cells and the Immune System Increases Epithelial Layer Permeability and Alters Signaling Protein Spectrum.
Front Immunol
; 8: 223, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28316601
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