Browse by UCL people
Group by: Type | Date
Jump to: Article | Conference item
Number of items: 10.
Article
Bryant, D;
Liu, Y;
Datta, S;
Hariri, H;
Seda, M;
Anderson, G;
Peskett, E;
... Stanier, PM; + view all
(2018)
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Human Molecular Genetics
, 27
(11)
pp. 1927-1940.
10.1093/hmg/ddy101.
|
|
Bryant, D;
Seda, M;
Peskett, E;
Maurer, C;
Pomeranz, G;
Ghosh, M;
Hawkins, TA;
... Stanier, P; + view all
(2020)
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Scientific Reports
, 10
(1)
, Article 13763. 10.1038/s41598-020-70797-2.
|
 |
|
Freke, Grace Mercedes;
Martins, Tiago;
Davies, Rosalind Jane;
Beyer, Tina;
Seda, Marian;
Peskett, Emma;
Haq, Naila;
... Jenkins, Dagan; + view all
(2023)
De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1.
Cells
, 12
(22)
, Article 2662. 10.3390/cells12222662.
|
|
Mukhopadhyay, Aakash G;
Toropova, Katerina;
Daly, Lydia;
Wells, Jennifer N;
Vuolo, Laura;
Mladenov, Miroslav;
Seda, Marian;
... Roberts, Anthony J; + view all
(2024)
Structure and tethering mechanism of dynein-2 intermediate chains in intraflagellar transport.
The EMBO Journal
10.1038/s44318-024-00060-1.
(In press).
|
|
Perretta Tejedor, N;
Freke, G;
Seda, M;
Long, D;
Jenkins, D;
(2020)
Generating mutant renal cell lines using CRISPR technologies.
Methods in Molecular Biology
, 2067
pp. 323-340.
10.1007/978-1-4939-9841-8_20.
|
|
Seda, M;
Crespo, B;
Corcelli, M;
Osborn, DP;
Jenkins, D;
(2023)
A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis.
Scientific Reports
, 13
(1)
, Article 6783. 10.1038/s41598-023-33589-y.
|
 |
|
Seda, M;
Geerlings, M;
Lim, P;
Jayabalan-Srikaran, J;
Cichon, A-C;
Scambler, PJ;
Beales, PL;
... Jenkins, D; + view all
(2019)
An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.
Molecuar Syndromology
, 10
(1-2)
10.1159/000491567.
(In press).
|
|
|
Seda, M;
Peskett, E;
Demetriou, C;
Bryant, D;
Moore, G;
Stanier, P;
Jenkins, D;
(2019)
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.
Child Health Open Research
, 8
, Article 273. 10.12688/f1000research.17314.1.
|
|
Conference item
|
Perretta Tejedor, N;
Barreira, E;
Seda, M;
Jenkins, D;
Woolf, AS;
Winyard, P;
Long, DA;
(2018)
Using CRISPR technology to generate models of polycystic kidney disease.
Presented at: Europhysiology 2018, London.
|
|
Perretta Tejedor, N;
Seda, M;
Jenkins, D;
Ronco, P;
Woolf, AS;
Winyard, P;
Long, DA;
(2019)
Vascular endothelial growth factor-C (VEGF-C) reduces cystogenesis in a human cellular model of polycystic kidney disease generated by CRISPR technology.
Presented at: UK Kidney Week 2019, Brighton, UK.
|
