Marcella Cesana
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View article: Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center Open
Background Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic disorders (IMDs). Methods based on liquid chromatography/mass spectrometry (LC–MS/MS) analysis are viewed …
View article: TFEB controls syncytiotrophoblast formation and hormone production in placenta
TFEB controls syncytiotrophoblast formation and hormone production in placenta Open
View article: A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID Open
View article: Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment
Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment Open
Schizophrenia (SCZ) is a genetically heterogenous psychiatric disorder of highly polygenic nature. Correlative evidence from genetic studies indicate that the aggregated effects of distinct genetic risk factor combinations found in each pa…
View article: TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression
TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression Open
View article: Esrrb guides naive pluripotent cells through the formative transcriptional programme
Esrrb guides naive pluripotent cells through the formative transcriptional programme Open
View article: EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation
EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation Open
The stress-responsive transcription factor EB (TFEB) is a master controller of lysosomal biogenesis and autophagy and plays a major role in several cancer-associated diseases. TFEB is regulated at the posttranslational level by the nutrien…
View article: Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association Open
View article: MET Exon 14 Skipping: A Case Study for the Detection of Genetic Variants in Cancer Driver Genes by Deep Learning
MET Exon 14 Skipping: A Case Study for the Detection of Genetic Variants in Cancer Driver Genes by Deep Learning Open
Background: Disruption of alternative splicing (AS) is frequently observed in cancer and might represent an important signature for tumor progression and therapy. Exon skipping (ES) represents one of the most frequent AS events, and in non…
View article: MET Exon 14 Skipping: A Case Study for the Detection of Genetic Variants in Cancer Driver Genes by Deep Learning
MET Exon 14 Skipping: A Case Study for the Detection of Genetic Variants in Cancer Driver Genes by Deep Learning Open
Background: Disruption of alternative splicing (AS) is frequently observed in cancer and it might represent an important signature for tumor progression and therapy. Exon skipping (ES) represents one of the most frequent AS events and in n…
View article: MiT/ <scp>TFE</scp> factors control <scp>ER</scp> ‐phagy via transcriptional regulation of <scp>FAM</scp> 134B
MiT/ <span>TFE</span> factors control <span>ER</span> ‐phagy via transcriptional regulation of <span>FAM</span> 134B Open
View article: A substrate-specific mTORC1 pathway underlies Birt–Hogg–Dubé syndrome
A substrate-specific mTORC1 pathway underlies Birt–Hogg–Dubé syndrome Open
View article: TFEB Modulates p21/WAF1/CIP1 during the DNA Damage Response
TFEB Modulates p21/WAF1/CIP1 during the DNA Damage Response Open
The MiT/TFE family of transcription factors (MITF, TFE3, and TFEB), which control transcriptional programs for autophagy and lysosome biogenesis have emerged as regulators of energy metabolism in cancer. Thus, their activation increases ly…
View article: Esrrb Conveys Naïve Pluripotent Cells Through The Formative Transcriptional Program
Esrrb Conveys Naïve Pluripotent Cells Through The Formative Transcriptional Program Open
View article: The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling Open
Primary cilia are hair-like organelles that play crucial roles in vertebrate development, organogenesis and when dysfunctional result in pleiotropic human genetic disorders called ciliopathies, characterized by overlapping phenotypes, such…
View article: A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development
A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development Open
View article: Regulation of embryonic haematopoietic multipotency by EZH1
Regulation of embryonic haematopoietic multipotency by EZH1 Open
View article: Transcriptional and Chromatin Dynamics of Muscle Regeneration after Severe Trauma
Transcriptional and Chromatin Dynamics of Muscle Regeneration after Severe Trauma Open
View article: Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma
Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma Open
View article: Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma
Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma Open
Poor prognosis in neuroblastoma is associated with genetic amplification of MYCN. MYCN is itself a target of let-7, a tumour suppressor family of microRNAs implicated in numerous cancers. LIN28B, an inhibitor of let-7 biogenesis, is overex…
View article: Integrative Analyses of Human Reprogramming Reveal Dynamic Nature of Induced Pluripotency
Integrative Analyses of Human Reprogramming Reveal Dynamic Nature of Induced Pluripotency Open
View article: Integrative Analyses of Human Reprogramming Reveal Dynamic Nature of Induced Pluripotency
Integrative Analyses of Human Reprogramming Reveal Dynamic Nature of Induced Pluripotency Open