List of works by Stefano Regis

A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.

scientific article published on November 2010

An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient ⬇️

scientific article published on August 1, 1995

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

Cell-Laden Hydrogel as a Clinical-Relevant 3D Model for Analyzing Neuroblastoma Growth, Immunophenotype, and Susceptibility to Therapies

scientific article published on 09 August 2019

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.

scientific article

Imatinib and Nilotinib Off-Target Effects on Human NK Cells, Monocytes, and M2 Macrophages.

scientific article published on 12 July 2017

Molecular Mechanisms Directing Migration and Retention of Natural Killer Cells in Human Tissues

scientific article published on 11 October 2018

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

scientific article

New Insights and Perspectives in Fanconi Anemia Research

scientific article published on 08 February 2019

Novel Immunoregulatory Functions of IL-18, an Accomplice of TGF-β1

scientific article published on 11 January 2019

Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation

scientific article

TGF-β1 Downregulates the Expression of CX3CR1 by Inducing miR-27a-5p in Primary Human NK Cells.

scientific article published on 25 July 2017

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