Search Results - "Porro, Fabiola"
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B-cell receptor signaling and genetic lesions in TP53 and CDKN2A/CDKN2B cooperate in Richter transformation
Published in Blood (23-09-2021)“…B-cell receptor (BCR) signals play a critical role in the pathogenesis of chronic lymphocytic leukemia (CLL), but their role in regulating CLL cell…”
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Journal Article -
2
Promoterless gene targeting without nucleases rescues lethality of a Crigler‐Najjar syndrome mouse model
Published in EMBO molecular medicine (01-10-2017)“…Crigler‐Najjar syndrome type I (CNSI) is a rare monogenic disease characterized by severe neonatal unconjugated hyperbilirubinemia with a lifelong risk of…”
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3
Inhibition of SYK or BTK augments venetoclax sensitivity in SHP1-negative/BCL-2-positive diffuse large B-cell lymphoma
Published in Leukemia (01-10-2019)“…The BCL-2 inhibitor venetoclax has only limited activity in DLBCL despite frequent BCL-2 overexpression. Since constitutive activation of the B cell receptor…”
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4
CRISPR-Cas9-mediated somatic correction of a one-base deletion in the Ugt1a gene ameliorates hyperbilirubinemia in Crigler-Najjar syndrome mice
Published in Molecular therapy. Methods & clinical development (14-12-2023)“…(AAV)-mediated episomal gene replacement therapy for monogenic liver disorders is currently limited in pediatric settings due to the loss of vector DNA,…”
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5
Promoterless Gene Targeting Approach Combined to CRISPR/Cas9 Efficiently Corrects Hemophilia B Phenotype in Neonatal Mice
Published in Frontiers in genome editing (11-03-2022)“…Many inborn errors of metabolism require life-long treatments and, in severe conditions involving the liver, organ transplantation remains the only curative…”
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6
Generation of Ugt1-deficient murine liver cell lines using TALEN technology
Published in PloS one (13-08-2014)“…The Crigler-Najjar Syndrome Type I (CNSI) is a rare genetic disorder caused by mutations in the Ugt1a1 gene. It is characterized by unconjugated…”
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7
A Major Fraction of Fibronectin Present in the Extracellular Matrix of Tissues Is Plasma-derived
Published in The Journal of biological chemistry (21-09-2007)“…The origin of the fibronectin (FN) found in the extracellular matrix of tissues has not been defined experimentally. Previous studies suggest that there is…”
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SHP1 Deficiency Is Responsible for the Constitutive Activation of the BCR Pathway in GCB DLBCL
Published in BLOOD (29-11-2018)“…Functional and transcriptional profiling studies have identified a subset of diffuse large B cell lymphoma (DLBCL) tumors that rely on B cell receptor (BCR)…”
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Journal Article Conference Proceeding -
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Regulated Splicing of the Fibronectin EDA Exon Is Essential for Proper Skin Wound Healing and Normal Lifespan
Published in The Journal of cell biology (07-07-2003)“…Fibronectins (FNs) are multifunctional high molecular weight glycoproteins present in the blood plasma and in the ECMs of tissues. The FN primary transcript…”
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Journal Article -
10
Characterization of the distal polyadenylation site of the ß-adducin (Add2) pre-mRNA
Published in PloS one (15-03-2013)“…Most genes have multiple polyadenylation sites (PAS), which are often selected in a tissue-specific manner, altering protein products and affecting mRNA…”
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Journal Article -
11
Absence of regulated splicing of fibronectin EDA exon reduces atherosclerosis in mice
Published in Atherosclerosis (01-04-2008)“…Abstract Atherosclerotic lesions are characterized by a profound alteration in the architecture of the arterial intima, with a marked increase of fibronectin…”
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12
TDP-43 regulates β-adducin (Add2) transcript stability
Published in RNA biology (03-10-2014)“…TDP-43 is an RNA-binding protein involved in several steps of mRNA metabolism including transcription, splicing and stability. It is also involved in ALS and…”
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13
Combined Genetic Lesions in TP53 and CDKN2A/CDKN2B Drive B Cell Receptor-Dependent/Costimulatory Signal-Independent Proliferation in Richter Syndrome
Published in Blood (05-11-2020)“…B cell receptor (BCR) signals play a critical role in the pathogenesis of chronic lymphocytic leukemia (CLL), but their role in regulating CLL cell…”
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Journal Article -
14
Coupling AAV-mediated promoterless gene targeting to SaCas9 nuclease to efficiently correct liver metabolic diseases
Published in JCI insight (08-08-2019)“…Non-integrative AAV-mediated gene therapy in the liver is effective in adult patients, but faces limitations in pediatric settings due to episomal DNA loss…”
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15
Serum IgM/Fcmr Interactions Inhibit BCR Signaling and Influence the Cinical Course of CLL
Published in Blood (29-11-2018)“…CLL cases display heterogeneous responses to B cell receptor (BCR) engagement which correlate with clinical course and survival. Typically, cases with more…”
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Journal Article -
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688. AAV8-Mediated Liver Gene Targeting Without Nucleases Rescues Lethality in a Mouse Model of the Crigler-Najjar Syndrome
Published in Molecular therapy (01-05-2015)Get full text
Journal Article -
17
Characterization of the Distal Polyadenylation Site of the ß-Adducin
Published in PloS one (15-03-2013)“…Most genes have multiple polyadenylation sites (PAS), which are often selected in a tissue-specific manner, altering protein products and affecting mRNA…”
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Journal Article -
18
Long-distance regulation of Add2 pre-mRNA3'end processing
Published in RNA biology (01-04-2013)“…Accurate 3'end processing depends on the correct recognition of polyadenylation regulatory elements by specific protein complexes. In addition to the…”
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Journal Article -
19
Long-distance regulation of Add2 pre-mRNA3′end processing
Published in RNA biology (01-04-2013)“…Accurate 3′end processing depends on the correct recognition of polyadenylation regulatory elements by specific protein complexes. In addition to the…”
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Journal Article -
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Characterization of the Distal Polyadenylation Site of the s-Adducin (Add2) Pre-mRNA. e58879
Published in PloS one (01-03-2013)“…Most genes have multiple polyadenylation sites (PAS), which are often selected in a tissue-specific manner, altering protein products and affecting mRNA…”
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