Skip to main content

Research Repository

Advanced Search

All Outputs (26)

WT1 activates transcription of the splice factor kinase SRPK1 gene in PC3 and K562 cancer cells in the absence of corepressor BASP1 (2020)
Journal Article

Dysregulated alternative splicing plays a prominent role in all hallmarks of cancer. The splice factor kinase SRPK1 drives the activity of oncogenic splice factors such as SRSF1. SRSF1 in turn promotes the expression of splice isoforms that favour tu... Read More about WT1 activates transcription of the splice factor kinase SRPK1 gene in PC3 and K562 cancer cells in the absence of corepressor BASP1.

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy (2020)
Journal Article

Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in most populations. This remains a completely untreatable and incurable form o... Read More about Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa (2018)
Journal Article

© 2018, The Author(s). Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non-syndromic retinal disease. Here, we generate transcr... Read More about Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.

Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications (2018)
Journal Article

© 2018, Springer Science+Business Media, LLC, part of Springer Nature. Abstract: There is an incentive to functionalise hydroxyapatite (HA) for orthopaedic implant use with bioactive agents to encourage superior integration of the implants into host... Read More about Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications.

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes (2015)
Journal Article

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe the first whole genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining... Read More about A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes.

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway (2015)
Journal Article

© 2015. Published by The Company of Biologists Ltd. Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert synd... Read More about The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes (2015)
Journal Article

© 2015 Macmillan Publishers Limited. Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of... Read More about An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis (2015)
Journal Article

©2015. To investigate the contribution of ion channels to ciliogenesis, we carried out a small interfering RNA (siRNA)-based reverse genetics screen of all ion channels in the mouse genome in murine inner medullary collecting duct kidney cells. This... Read More about Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (2014)
Journal Article

Mitochondrial Ca 2+ uptake has key roles in cell life and death. Physiological Ca 2+ signaling regulates aerobic metabolism, whereas pathological Ca 2+ overload triggers cell death. Mitochondrial Ca 2+ uptake is mediated by the Ca 2+ uniporter comple... Read More about Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium (2013)
Journal Article

The multinational SYSCILIA consortium aims to gain a mechanistic understanding of the cilium. We utilize multiple parallel high-throughput (HTP) initiatives to develop predictive models of relationships between complex genotypes and variable phenotyp... Read More about The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium.

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome (2013)
Journal Article

Meckel-Gruber syndrome (MKS) is an embryonic lethal ciliopathy resulting from mutations in genes encoding proteins localising to the primary cilium. Mutations in the basal body protein MKS1 account for 7% of cases of MKS. The condition affects the de... Read More about Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel - Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and wnt signalling defects (2013)
Journal Article

The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS) and Joubert syndrome (JBTS) even at the inter-individual level within families. In humans, mu... Read More about Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel - Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and wnt signalling defects.

Meckel-Gruber syndrome (2013)
Book Chapter

Epidemiology, Clinical features, Range of the phenotype, Diagnosis, Interesring features of the condition, Genetics, Underlying ciliary defect, Physiological effect of the ciliary defect, Clinical management

Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies (2012)
Journal Article

HHARI (also known as ARIH1) is an ubiquitin-protein ligase and is the cognate of the E2, UbcH7 (UBE2L3). To establish a functional role for HHARI in cellular proliferation processes, we performed a reverse genetics screen that identified n=86/522 (16... Read More about Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies.