Lista de obras - Giuseppe Borsani - Dominio Público Uruguay

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish

artículo científico publicado en 2012

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

artículo científico publicado en 1999

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

artículo científico publicado en 1998

A practical guide to orient yourself in the labyrinth of genome databases ⬇️

artículo científico publicado el 1 de enero de 1998

Analysis of three μ1-AP1 subunits during zebrafish development

artículo científico publicado en 2013

Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca2+-dependent solute carrier gene family.

artículo científico publicado en 2005

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

artículo científico publicado en 2013

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

artículo científico publicado en 2011

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

artículo científico publicado en 1998

Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein

artículo científico publicado en 1995

Characterization of the AP-1 μ1A and μ1B adaptins in zebrafish (Danio rerio).

artículo científico publicado en 2010

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

artículo científico publicado en 1999

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

artículo científico publicado en 2008

Detection of beta-nerve growth factor mRNA in the human fetal brain.

artículo científico publicado en 1990

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

artículo científico publicado en 1995

Drosophila-related expressed sequences

artículo científico

EYA4, a novel vertebrate gene related to Drosophila eyes absent

artículo científico publicado en 1999

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

artículo científico publicado en 1998

Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6Bgenes ⬇️

artículo científico publicado el 28 de junio de 2013

Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops.

artículo científico publicado en 2011

Gene expression profile in fibroblasts of Huntington's disease patients and controls.

artículo científico publicado en 2013

Genetic and Physical Mapping of a Voltage-Dependent Chloride Channel Gene to Human 4q32 and to Mouse 8

article

How to get the best of dbEST

artículo científico publicado en 1998

Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.

artículo científico publicado en 2015

Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-

scientific journal article

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

artículo científico publicado en 2000

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

artículo científico publicado en 1996

Importance of different types of prior knowledge in selecting genome-wide findings for follow-up

artículo científico publicado en 2013

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization

artículo científico publicado en 2014

Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease

artículo científico publicado en 2015

Molecular cloning and biochemical characterization of sialidases from zebrafish (Danio rerio).

artículo científico publicado en 2007

Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family

artículo científico publicado en 2004

Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease

artículo científico publicado en 2014

NF-kappaB pathway: a target for preventing beta-amyloid (Abeta)-induced neuronal damage and Abeta42 production

artículo científico publicado en 2006

New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa ⬇️

artículo científico publicado el 30 de agosto de 2012

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

artículo científico publicado en 1999

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

artículo científico publicado en 2004

Properties of recombinant human cytosolic sialidase HsNEU2. The enzyme hydrolyzes monomerically dispersed GM1 ganglioside molecules

artículo científico publicado en 2003

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

artículo científico publicado en 2018

Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.

artículo científico publicado en 1997

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

artículo científico publicado en 1999

SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family

scientific journal article

SNP prioritization using a Bayesian probability of association

artículo científico publicado en 2012

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

artículo científico publicado en 2011

Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein

artículo científico publicado en 1998

Sialidase NEU3 is a peripheral membrane protein localized on the cell surface and in endosomal structures

artículo científico publicado en 2007

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

scientific journal article

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

artículo científico publicado en 2000

TargetFinder: searching annotated sequence databases for target genes of transcription factors

article

The amino acid transporter asc-1 is not involved in cystinuria

artículo científico publicado en 2004

The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation.

artículo científico publicado en 2000

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome

artículo científico publicado en 1998

The molecular bases of cystinuria and lysinuric protein intolerance.

artículo científico publicado en 2001

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype

artículo científico publicado en 2005

X chromosome gene dosage compensation in female mammals

article

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

artículo científico publicado en 1999

slc7a6os gene plays a critical role in defined areas of the developing CNS in zebrafish

artículo científico publicado en 2015

Lista de obras de Giuseppe Borsani

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

A practical guide to orient yourself in the labyrinth of genome databases ⬇️

Analysis of three μ1-AP1 subunits during zebrafish development

Cellular expression and alternative splicing of SLC25A23, a member of the mitochondrial Ca2+-dependent solute carrier gene family.

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein

Characterization of the AP-1 μ1A and μ1B adaptins in zebrafish (Danio rerio).

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

Detection of beta-nerve growth factor mRNA in the human fetal brain.

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

Drosophila-related expressed sequences

EYA4, a novel vertebrate gene related to Drosophila eyes absent

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6Bgenes ⬇️

Gallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops.

Gene expression profile in fibroblasts of Huntington's disease patients and controls.

Genetic and Physical Mapping of a Voltage-Dependent Chloride Channel Gene to Human 4q32 and to Mouse 8

How to get the best of dbEST

Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.

Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-

Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Importance of different types of prior knowledge in selecting genome-wide findings for follow-up

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization

Knock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN disease

Molecular cloning and biochemical characterization of sialidases from zebrafish (Danio rerio).

Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family

Molecular cloning and knockdown of galactocerebrosidase in zebrafish: new insights into the pathogenesis of Krabbe's disease

NF-kappaB pathway: a target for preventing beta-amyloid (Abeta)-induced neuronal damage and Abeta42 production

New Insights on the Sialidase Protein Family Revealed by a Phylogenetic Analysis in Metazoa ⬇️

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

Properties of recombinant human cytosolic sialidase HsNEU2. The enzyme hydrolyzes monomerically dispersed GM1 ganglioside molecules

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency

Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family

SNP prioritization using a Bayesian probability of association

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein

Sialidase NEU3 is a peripheral membrane protein localized on the cell surface and in endosomal structures

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

TargetFinder: searching annotated sequence databases for target genes of transcription factors

The amino acid transporter asc-1 is not involved in cystinuria

The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation.

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome

The molecular bases of cystinuria and lysinuric protein intolerance.

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype

X chromosome gene dosage compensation in female mammals

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

slc7a6os gene plays a critical role in defined areas of the developing CNS in zebrafish