Lista de obras - Giulia Soldà - Dominio Público Uruguay

4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2019

A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest

scientific article published on 10 May 2018

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

artículo científico publicado en 2011

A transcriptional sketch of a primary human breast cancer by 454 deep sequencing

artículo científico publicado en 2009

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

artículo científico publicado en 2017

An Ariadne's thread to the identification and annotation of noncoding RNAs in eukaryotes.

scientific article published on 21 April 2009

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

scientific article published on 27 November 2014

DNAJC12 and dopa-responsive nonprogressive parkinsonism

artículo científico publicado en 2017

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

artículo científico publicado en 2013

Expression of distinct RNAs from 3' untranslated regions

artículo científico publicado en 2010

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

article

First Replication of the Involvement of in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

artículo científico publicado en 2018

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

artículo científico publicado en 2015

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

artículo científico publicado en 2013

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

artículo científico publicado en 2014

Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients

article

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

artículo científico publicado en 2011

Glucocerebrosidase mutations in primary parkinsonism

artículo científico publicado en 2014

Improving mRNA 5' coding sequence determination in the mouse genome

artículo científico publicado en 2014

In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs

artículo científico publicado en 2005

In-depth characterization of breast cancer tumor-promoting cell transcriptome by RNA sequencing and microarrays

artículo científico publicado en 2015

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

scientific article published on 17 December 2018

Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation

artículo científico publicado en 2008

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.

artículo científico publicado en 2015

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

artículo científico publicado en 2009

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect

artículo científico publicado en 2008

Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis

artículo científico publicado en 2014

No association of GBA mutations and multiple system atrophy.

artículo científico publicado en 2013

Non-random retention of protein-coding overlapping genes in Metazoa

artículo científico publicado en 2008

Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis

scientific article published on 01 May 2019

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

artículo científico publicado en 2022

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

artículo científico publicado en 2016

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

artículo científico publicado en 2015

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

artículo científico publicado en 2012

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

artículo científico publicado en 2017

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

artículo científico publicado en 2017

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD

scientific article published on 20 October 2020

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

artículo científico publicado en 2014

Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC

scientific article published on 07 April 2020

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

article

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

artículo científico publicado en 2016

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.

artículo científico publicado en 2017

Lista de obras de Giulia Soldà

4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy

A lysosome-plasma membrane-sphingolipid axis linking lysosomal storage to cell growth arrest

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

A transcriptional sketch of a primary human breast cancer by 454 deep sequencing

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

An Ariadne's thread to the identification and annotation of noncoding RNAs in eukaryotes.

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

DNAJC12 and dopa-responsive nonprogressive parkinsonism

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript

Expression of distinct RNAs from 3' untranslated regions

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

First Replication of the Involvement of in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

Glucocerebrosidase mutations in primary parkinsonism

Improving mRNA 5' coding sequence determination in the mouse genome

In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs

In-depth characterization of breast cancer tumor-promoting cell transcriptome by RNA sequencing and microarrays

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect

Next-generation sequencing analysis of miRNA expression in control and FSHD myogenesis

No association of GBA mutations and multiple system atrophy.

Non-random retention of protein-coding overlapping genes in Metazoa

Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

Tumor-derived prostaglandin E2 promotes p50 NF-κB-dependent differentiation of monocytic MDSC

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.