A5015830777- Cancer Genomics and Diagnostics
- Bioinformatics and Genomic Networks
- Lung Cancer Treatments and Mutations
- Epigenetics and DNA Methylation
- Amino Acid Enzymes and Metabolism
- BRCA gene mutations in cancer
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Genomics and Chromatin Dynamics
- Glycosylation and Glycoproteins Research
- Galectins and Cancer Biology
- Cancer-related gene regulation
- Genetic factors in colorectal cancer
- Monoclonal and Polyclonal Antibodies Research
- Folate and B Vitamins Research
- DNA Repair Mechanisms
- Ferroptosis and cancer prognosis
- Biomedical Research and Pathophysiology
- Biotechnology and Related Fields
- RNA Research and Splicing
- Polyamine Metabolism and Applications
- RNA regulation and disease
- Nutrition, Genetics, and Disease
- Coconut Research and Applications
- Genomic variations and chromosomal abnormalities
IFOM
2003-2021
European Institute of Oncology
2010
Telethon Institute Of Genetics And Medicine
1999-2001
Telethon Foundation
2001
Vitenparken
2000
Several mammalian sialidases have been described so far, suggesting the existence of numerous polypeptides with different tissue distributions, subcellular localizations and substrate specificities. Among these enzymes, plasma-membrane-associated sialidase(s) a pivotal role in modulating ganglioside content lipid bilayer, their involvement complex mechanisms governing cell-surface biological functions. Here we describe identification expression human sialidase, NEU3, isolated starting from...
Cystinuria (OMIM 220100) is a common recessive disorder of renal reabsorption cystine and dibasic amino acids that results in nephrolithiasis cystine. Mutations SLC3A1, which encodes rBAT, cause Type I cystinuria, mutations SLC7A9, putative subunit rBAT (bo,+AT), non-Type cystinuria. Here we describe the genomic structure SLC7A9 (13 exons) 28 new this gene that, together with seven previously reported, explain 79% alleles 61 cystinuria patients. These data demonstrate main gene. G105R,...
PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic these cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, cancer predisposition (BRCA2/FANCD1 PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without failure (BRCA1/FANCS). FANCM monoallelic have been reported as moderate factors for cancer, there are no reports any clinical...
Several mammalian sialidases have been described so far, suggesting the existence of numerous polypeptides with different tissue distributions, subcellular localizations and substrate specificities. Among these enzymes, plasma-membrane-associated sialidase(s) a pivotal role in modulating ganglioside content lipid bilayer, their involvement complex mechanisms governing cell-surface biological functions. Here we describe identification expression human sialidase, NEU3, isolated starting from...
Abstract The B cell receptor (BCR) is critical for mature lymphomas, serving as a therapeutic target. We show that high-grade lymphomas with MYC and BCL2 rearrangements (HGBCL-DH-BCL2) predominantly exhibit immunoglobulin heavy (IGH) chain silencing, leading to BCR shutdown. IGH-silenced HGBCL-DH-BCL2 (IGHUND) differ from IGH+ counterparts in germinal center-zone programs, expression, immune infiltrate. While favor IGM/IG-Kappa IGHUND complete IGH isotype switching IG-Lambda rearrangements....
<div>Abstract<p>Enhancers are noncoding regulatory DNA regions that modulate the transcription of target genes, often over large distances along with genomic sequence. Enhancer alterations have been associated various pathological conditions, including cancer. However, identification and characterization somatic mutations in a functional effect on tumorigenesis prognosis remain major challenge. Here, we present strategy for detecting characterizing enhancer genome-wide analysis...
Abstract Enhancers are noncoding regulatory DNA regions that modulate the transcription of target genes, often over large distances along with genomic sequence. Enhancer alterations have been associated various pathological conditions, including cancer. However, identification and characterization somatic mutations in a functional effect on tumorigenesis prognosis remain major challenge. Here, we present strategy for detecting characterizing enhancer genome-wide analysis patient cohorts,...
<div>Abstract<p>Enhancers are noncoding regulatory DNA regions that modulate the transcription of target genes, often over large distances along with genomic sequence. Enhancer alterations have been associated various pathological conditions, including cancer. However, identification and characterization somatic mutations in a functional effect on tumorigenesis prognosis remain major challenge. Here, we present strategy for detecting characterizing enhancer genome-wide analysis...