List of works - Elisa Molinari

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

scientific article published on 01 August 2019

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

scientific article published on 11 September 2017

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

scientific article published on 27 September 2018

Cell preservation methods and its application to studying rare disease

scientific article published in April 2021

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

scientific article published on 14 August 2020

Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders

scientific article published on 05 March 2020

Embryonic and foetal expression patterns of the ciliopathy gene CEP164

scientific article published on 28 January 2020

Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease

scientific article published on 31 August 2017

FGF8, c-Abl and p300 participate in a pathway that controls stability and function of the ΔNp63α protein.

scientific article published on 24 April 2015

From disease modelling to personalised therapy in patients with CEP290 mutations

scientific article

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants ⬇️

scientific article published on 12 July 2018

Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.

scientific article published in January 2017

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

scientific article published on 26 December 2019

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

scientific article published on 16 November 2018

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

scientific article published on 25 July 2019

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

scientific article published in December 2021

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

scientific article published on 15 October 2020

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

scientific article published on 16 June 2020

Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies

scientific article published on 4 July 2019

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes

article

List of works by Elisa Molinari

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Cell preservation methods and its application to studying rare disease

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders

Embryonic and foetal expression patterns of the ciliopathy gene CEP164

Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease

FGF8, c-Abl and p300 participate in a pathway that controls stability and function of the ΔNp63α protein.

From disease modelling to personalised therapy in patients with CEP290 mutations

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants ⬇️

Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies

Using zebrafish to study the function of nephronophthisis and related ciliopathy genes