S. Regis

发表

PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.

S. Regis, S. Grossi, F. Corsolini, 2009, Biochimica et biophysica acta.

Molecular analysis of ARSA and PSAP genes in twenty‐one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles

G. Uziel, C. Rosano, S. Regis, 2008, Human mutation.

Main NK cell receptors and their ligands: regulation by microRNAs

S. Regis, C. Bottino, R. Castriconi, 2018 .

An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity

S. Regis, F. Corsolini, M. Filocamo, 1999, European Journal of Human Genetics.

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

S. Regis, F. Corsolini, M. Filocamo, 2002, Human Genetics.

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

Franco Locatelli, Mario Cazzola, Roberta Castriconi, 2017, The Journal of Immunology.

A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A

P. Degan, S. Regis, F. Corsolini, 2021, Metabolites.

NK Cell Function Regulation by TGF-β-Induced Epigenetic Mechanisms

S. Regis, C. Bottino, R. Castriconi, 2020, Frontiers in Immunology.

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

S. Regis, C. Bottino, R. Castriconi, 2018, Front. Immunol..

miR-24-3p down-regulates the expression of the apoptotic factors FasL and BIM in human natural killer cells.

S. Regis, C. Bottino, R. Castriconi, 2022, Cellular signalling.

Diagnosis of Pelizaeus–Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR

S. Regis, S. Grossi, R. Biancheri, 2005, Neurogenetics.

Movement and mood disorder in two brothers with Gaucher disease

M. Raja, E. Sidransky, S. Regis, 2007, Clinical genetics.

Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome

S. Regis, F. Corsolini, M. Filocamo, 2003, American journal of medical genetics. Part A.

Evidence for a Founder Effect in Sicilian Patients with Glycogen Storage Disease Type II

S. Regis, M. Filocamo, G. Bonuccelli, 2000, Human Heredity.

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

S. Regis, F. Corsolini, M. Filocamo, 2006, Molecular Genetics and Metabolism.

Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping

S. Regis, S. Grossi, F. Corsolini, 2014, Clinical genetics.

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

S. Regis, F. Corsolini, M. Filocamo, 2002, Human mutation.

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

S. Regis, M. Filocamo, N. Loberto, 2012, Journal of Inherited Metabolic Disease.

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

D. Cooper, M. Mort, B. Bembi, 2010, Human mutation.

Molecular characterization of 22 novel UDP‐N‐acetylglucosamine‐1‐phosphate transferase α‐ and β‐subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

D. Cooper, T. Beccari, C. Rosano, 2009, Human mutation.

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.

S. Regis, F. Corsolini, M. Filocamo, 2008, Molecular genetics and metabolism.

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

E. Maestrini, S. Rivella, S. Bione, 1994, Nature Genetics.

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.

F. Zara, C. Bruno, S. Regis, 2006, Biochemical and biophysical research communications.

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

S. Regis, M. Filocamo, M. Duca, 2003, Human Genetics.

Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications

E. Bertini, G. Uziel, S. Regis, 2008, Clinical genetics.

A Novel Polymorphic AP‐1 Binding Element of the GFAP Promoter is Associated with Different Allelic Transcriptional Activities

R. Ravazzolo, D. Pareyson, S. Regis, 2010, Annals of human genetics.

Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia

S. Regis, F. Caroli, P. Gandullia, 1999, Journal of Inherited Metabolic Disease.

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011, Orphanet journal of rare diseases.

Molecular Genetic Analysis of the PLP 1 Gene in 38 Families with PLP 1-related disorders : Identification and Functional Characterization of 11 Novel PLP 1 Mutations

E. Bertini, D. Cooper, M. Mort, 2011 .

Characterization of iduronate‐2‐sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR‐based method

S. Regis, F. Corsolini, M. Filocamo, 2005, Human mutation.

Prenatal diagnosis of Pelizaeus‐Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

S. Regis, F. Corsolini, M. Filocamo, 2001, Prenatal diagnosis.

Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation

D. Cooper, S. Regis, S. Grossi, 2013, PloS one.

Enigmatic In Vivo iduronate‐2‐sulfatase (IDS) mutant transcript correction to wild‐type in Hunter syndrome

D. Cooper, B. Bembi, S. Regis, 2010, Human mutation.

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts

B. Bembi, S. Regis, M. Filocamo, 2006, Journal of Molecular Medicine.

Screening of 25 Italian patients with Niemann‐Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1

S. Regis, S. Grossi, F. Corsolini, 2004, Human mutation.

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles

K. Vlahovicek, B. Bembi, E. Buratti, 2009, neurogenetics.

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

S. Regis, C. Bottino, R. Castriconi, 2019, Cancers.

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms

S. Regis, F. Corsolini, M. Filocamo, 1998, Human Genetics.

This information is current as Macrophages Human NK Cells , Monocytes , and M 2 Imatinib and Nilotinib Off-Target Effects on

M. Cazzola, S. Regis, A. Moretta, 2017 .

The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.

S. Regis, F. Corsolini, M. Filocamo, 2001, Biochimica et biophysica acta.

A deletion involving exons 2–4 in the iduronate‐2‐sulfatase gene of a patient with intermediate Hunter syndrome

S. Regis, F. Corsolini, M. Filocamo, 1998, Clinical genetics.

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

S. Regis, M. Filocamo, G. Serra, 1995, Human Genetics.

A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient

S. Regis, M. Filocamo, R. Gatti, 1997, Clinical genetics.

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

S. Regis, A. Moretta, C. Bottino, 2017, Front. Immunol..

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

S. Regis, F. Corsolini, M. Filocamo, 1996, Journal of medical genetics.

Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1

P. Degan, S. Regis, F. Corsolini, 2023, International journal of molecular sciences.

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene

S. Regis, M. Filocamo, G. Parenti, 2001 .

Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia

S. Regis, F. Corsolini, S. Ravera, 2023, Antioxidants.

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

C. Rosano, S. Regis, F. Corsolini, 2007 .

New Insights and Perspectives in Fanconi Anemia Research.

P. Degan, S. Regis, S. Ravera, 2019, Trends in molecular medicine.

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

D. Olive, S. Scaglione, S. Regis, 2019, Front. Immunol..

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.

C. Rosano, S. Regis, F. Corsolini, 2007, Human mutation.

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

S. Regis, F. Corsolini, M. Filocamo, 2004, European Journal of Human Genetics.

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.

S. Regis, S. Grossi, M. Filocamo, 2014, Gene.

Genomic Structure of the Human UDP-GlcNAc:dolichol-P GlcNAc-1-P Transferase Gene

S. Regis, M. Filocamo, F. Caroli, 2002, DNA sequence : the journal of DNA sequencing and mapping.

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.

S. Regis, F. Corsolini, M. Filocamo, 2000, Blood cells, molecules & diseases.

Homozygosity for a non‐pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease

S. Regis, S. Grossi, M. Filocamo, 2005, American Journal of Medical Genetics. Part A.

A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene

S. Regis, M. Filocamo, G. Parenti, 2001, Journal of medical genetics.