Publications by Dr Elisa Molinari - ePrints

Browsing publications by Dr Elisa Molinari.

Newcastle Authors	Title	Year
Becky Dewhurst Dr Elisa Molinari Professor John Sayer	Spheroids, organoids and kidneys-on-chips: how complex human cellular models have assisted in the study of kidney disease and renal ciliopathies	2023
Dr Eric Olinger Dr Elisa Molinari Miguel Barroso Gil Laura Powell Dr Colin Miles et al.	A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families	2021
Becky Dewhurst Dr Elisa Molinari Professor John Sayer	Cell preservation methods and its application to studying rare disease	2021
Dr Elisa Molinari Professor John Sayer	Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases	2021
Miguel Barroso Gil Dr Eric Olinger Dr Simon Ramsbottom Dr Elisa Molinari Dr Colin Miles et al.	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	2021
Intisar Al Alawi Dr Elisa Molinari Professor John Sayer	Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman	2020
Dr Elisa Molinari Professor John Sayer	Disease modeling to understand the pathomechanisms of human genetic kidney disorders	2020
Laura Devlin Dr Simon Ramsbottom Lynne Overman Dr Steven Lisgo Dr Gavin Clowry et al.	Embryonic and foetal expression patterns of the ciliopathy gene CEP164	2020
Laura Powell Miguel Barroso Gil Dr Gavin Clowry Laura Devlin Dr Elisa Molinari et al.	Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development	2020
Dr Simon Ramsbottom Professor Peter Thelwall Dr Katrina Wood Dr Gavin Clowry Laura Devlin et al.	Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome	2020
Dr Elisa Molinari Dr Shalabh Srivastava Becky Dewhurst Professor John Sayer	Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles	2020
Andrew Browning Dr Gustavo Figueiredo Dr Oliver Baylis Dr Emma Montgomery Dr Elisa Molinari et al.	A case of ocular cystinosis associated with two potentially severe CTNS mutations	2019
Dr Elisa Molinari Dr Simon Ramsbottom Professor John Sayer	A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling	2019
Dr Elisa Molinari Dr Simon Ramsbottom Dr Shalabh Srivastava Philip Booth Sumaya Alkanderi et al.	Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts	2019
Sumaya Alkanderi Dr Elisa Molinari Veronica Sammut Dr Simon Ramsbottom Dr Shalabh Srivastava et al.	ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition	2018
Dr Elisa Molinari Dr Holly Mabillard Dr Shalabh Srivastava Dr Katrina Wood Sumaya Alkanderi et al.	Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants	2018
Dr Shalabh Srivastava Dr Elisa Molinari Professor John Sayer	Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders	2018
Dr Simon Ramsbottom Dr Elisa Molinari Dr Shalabh Srivastava Sumaya Alkanderi Laura Devlin et al.	Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model	2018
Dr Simon Ramsbottom Dr Elisa Molinari Dr Shalabh Srivastava Sumaya Alkanderi Laura Devlin et al.	Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model	2018
Dr Elisa Molinari Dr Simon Ramsbottom Veronica Sammut Professor John Sayer	Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 1; referees: 1 approved, 2 approved with reservations]	2018
Dr Shalabh Srivastava Dr Simon Ramsbottom Dr Elisa Molinari Sumaya Alkanderi Professor Andrew Filby et al.	A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies	2017
Dr Elisa Molinari Professor John Sayer	Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease	2017
Dr Elisa Molinari Dr Shalabh Srivastava Professor John Sayer Dr Simon Ramsbottom	From disease modelling to personalised therapy in patients with CEP290 mutations	2017