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List of works by Gemma Marfany

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

scientific article published on January 1994

Assessing diversity in multiplex networks

scientific article published on 14 March 2019

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

scientific article

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

scientific article published on March 1993

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

scientific article published in December 1997

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

scientific article

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

scientific article published on January 2016

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

scientific article

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

scientific article published on 12 August 2015

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

scientific article published in March 1993

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

scientific article published on December 1, 1992

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

scientific article published in January 2012

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

scientific article

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.

scientific article published on 19 December 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.

scientific article published on May 1995

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

scientific article

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

scientific article published on January 2012

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

scientific article

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

scientific article published in January 1998

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

scientific article

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

scientific article published in December 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.

scientific article published on July 1993

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

scientific article published on October 2008

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 May 2007

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

scientific article

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

scientific article published in October 2008

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

scientific article

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

scientific article published in January 2017

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

scientific article

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

scientific article

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

scientific article published on 6 February 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

scientific article

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

scientific article published on 01 January 2019

SUMO and ubiquitin paths converge.

scientific article published on February 2010

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

scientific article published on 01 February 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.

scientific article

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

scientific article published in November 1996

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

scientific article

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

scientific article published on June 1991

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

scientific article published in June 1991

The Drosophila subobscura Adh genomic region contains valuable evolutionary markers

scientific article published on March 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.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 23 January 2015

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