Lista de obras - Gemma Marfany - Dominio Público Uruguay

Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

scientific article published on 21 September 2019

Analysis of nucleotide substitutions and amino acid conservation in the Drosophila Adh genomic region

artículo científico publicado en 1994

Assessing diversity in multiplex networks

artículo científico publicado en 2019

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

artículo científico publicado en 2009

Characterization and evolution of the Adh genomic region in Drosophila guanche and Drosophila madeirensis

artículo científico publicado en 1993

Characterization and molecular analysis of Adh retrosequences in species of the Drosophila obscura group

artículo científico publicado en 1997

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

artículo científico publicado en 2014

Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina.

artículo científico publicado en 2016

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

artículo científico publicado en 2010

Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates

artículo científico publicado en 2015

Effect of site-directed mutagenesis on conserved positions of Drosophila alcohol dehydrogenase

artículo científico publicado en 1993

Evidence for retrotranscription of protein-coding genes in the Drosophila subobscura genome

artículo científico publicado el 1 de diciembre de 1992

Evolutionarily conserved A-to-I editing increases protein stability of the alternative splicing factor Nova1.

artículo científico publicado en 2012

Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles

artículo científico publicado en 2016

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

article

Gene Editing in Humans: Towards a Global and Inclusive Debate for Responsible Research

artículo científico publicado en 2017

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

scientific article published on 04 May 2019

High copy number of highly similar mariner-like transposons in planarian (Platyhelminthe): evidence for a trans-phyla horizontal transfer.

artículo científico publicado en 1995

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.

artículo científico publicado en 2011

High-throughput approaches for the genetic diagnosis of retinal dystrophies.

artículo científico publicado en 2012

Homodimerization of presenilin N-terminal fragments is affected by mutations linked to Alzheimer's disease

artículo científico publicado en 2001

Identification of a Drosophila presenilin homologue: evidence of alternatively spliced forms

artículo científico publicado en 1998

Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

artículo científico publicado en 2009

Identification of proteolytic cleavage sites within the gag-analogue protein of Ty1 virus-like particles

artículo científico publicado en 1996

In Vitro Gene Delivery in Retinal Pigment Epithelium Cells by Plasmid DNA-Wrapped Gold Nanoparticles

article

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

scientific article published on 31 March 2020

Infiltration of mariner elements.

artículo científico publicado en 1993

Much to know about proteolysis: intricate proteolytic machineries compromise essential cellular functions

artículo científico publicado en 2008

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

artículo científico publicado en 2003

Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

artículo científico publicado en 2007

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

artículo científico publicado en 2016

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

artículo científico publicado en 2007

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.

artículo científico publicado en 2018

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

artículo científico publicado en 2008

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

artículo científico publicado en 2002

Origin and evolution of the chordate central nervous system: insights from amphioxus genoarchitecture.

artículo científico publicado en 2017

Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress

artículo científico publicado en 2009

Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance

artículo científico publicado en 2003

ParaHox genes in pancreatic cell cultures: effects on the insulin promoter regulation

artículo científico publicado en 2008

Pdx1-related homeodomain transcription factors are distinctly expressed in mouse adult pancreatic islets

scientific journal article

Putative role of SUMOylation in controlling the activity of deubiquitinating enzymes in cancer

artículo científico publicado en 2016

RPGeNet v2.0: expanding the universe of retinal disease gene interactions network

scientific article published on 01 January 2019

SUMO and ubiquitin paths converge.

artículo científico publicado en 2010

Searching for the boundaries: unlimited expansion of ubiquitin and ubiquitin-like signals in multiple cellular functions

artículo científico publicado en 2010

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

scientific journal article

Stepwise assembly of the Nova-regulated alternative splicing network in the vertebrate brain.

artículo científico publicado en 2011

Structural determinants within the subunit protein of Ty1 virus-like particles

artículo científico publicado en 1996

Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer

artículo científico publicado en 2012

The Adh genomic region of Drosophila ambigua: evolutionary trends in different species

artículo científico publicado en 1991

The Adh in Drosophila: chromosomal location and restriction analysis in species with different phylogenetic relationships

artículo científico publicado en 1991

The Drosophila subobscura Adh genomic region contains valuable evolutionary markers

artículo científico publicado en 1992

The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies

scientific article published on 23 April 2020

The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition.

artículo científico publicado en 2009

USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11.2

artículo científico publicado en 1999

Ubiquitin-specific protease 25 functions in Endoplasmic Reticulum-associated degradation

artículo científico publicado en 2012

mRNA expression analysis of the SUMO pathway genes in the adult mouse retina.

artículo científico publicado en 2015

Lista de obras de Gemma Marfany

Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

Analysis of nucleotide substitutions and amino acid conservation in the Drosophila Adh genomic region

Assessing diversity in multiplex networks

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

Characterization and evolution of the Adh genomic region in Drosophila guanche and Drosophila madeirensis

Characterization and molecular analysis of Adh retrosequences in species of the Drosophila obscura group

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina.

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Distilling a Visual Network of Retinitis Pigmentosa Gene-Protein Interactions to Uncover New Disease Candidates

Effect of site-directed mutagenesis on conserved positions of Drosophila alcohol dehydrogenase

Evidence for retrotranscription of protein-coding genes in the Drosophila subobscura genome

Evolutionarily conserved A-to-I editing increases protein stability of the alternative splicing factor Nova1.

Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

Gene Editing in Humans: Towards a Global and Inclusive Debate for Responsible Research

Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling

High copy number of highly similar mariner-like transposons in planarian (Platyhelminthe): evidence for a trans-phyla horizontal transfer.

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.

High-throughput approaches for the genetic diagnosis of retinal dystrophies.

Homodimerization of presenilin N-terminal fragments is affected by mutations linked to Alzheimer's disease

Identification of a Drosophila presenilin homologue: evidence of alternatively spliced forms

Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.

Identification of proteolytic cleavage sites within the gag-analogue protein of Ty1 virus-like particles

In Vitro Gene Delivery in Retinal Pigment Epithelium Cells by Plasmid DNA-Wrapped Gold Nanoparticles

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

Infiltration of mariner elements.

Much to know about proteolysis: intricate proteolytic machineries compromise essential cellular functions

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations.

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

Origin and evolution of the chordate central nervous system: insights from amphioxus genoarchitecture.

Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress

Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance

ParaHox genes in pancreatic cell cultures: effects on the insulin promoter regulation

Pdx1-related homeodomain transcription factors are distinctly expressed in mouse adult pancreatic islets

Putative role of SUMOylation in controlling the activity of deubiquitinating enzymes in cancer

RPGeNet v2.0: expanding the universe of retinal disease gene interactions network

SUMO and ubiquitin paths converge.

Searching for the boundaries: unlimited expansion of ubiquitin and ubiquitin-like signals in multiple cellular functions

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

Stepwise assembly of the Nova-regulated alternative splicing network in the vertebrate brain.

Structural determinants within the subunit protein of Ty1 virus-like particles

Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer

The Adh genomic region of Drosophila ambigua: evolutionary trends in different species

The Adh in Drosophila: chromosomal location and restriction analysis in species with different phylogenetic relationships

The Drosophila subobscura Adh genomic region contains valuable evolutionary markers

The Relevance of Oxidative Stress in the Pathogenesis and Therapy of Retinal Dystrophies

The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition.

USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11.2

Ubiquitin-specific protease 25 functions in Endoplasmic Reticulum-associated degradation

mRNA expression analysis of the SUMO pathway genes in the adult mouse retina.