List of works - Christine Diggle

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development. ⬇️

scientific article

An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas ⬇️

scientific article

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

scientific article

DNA double strand break repair in human bladder cancer is error prone and involves microhomology-associated end-joining

scientific article published on 5 October 2004

Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes ⬇️

scientific article published on 08 August 2018

Development of a rapid, small-scale DNA repair assay for use on clinical samples

scientific article

Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy

scientific article

Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome

scientific article published on January 2013

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

scientific article

High-fat and high-sucrose (western) diet induces steatohepatitis that is dependent on fructokinase

scientific article published on 8 October 2013

Identification of genes up-regulated in urothelial tumors: the 67-kd laminin receptor and tumor-associated trypsin inhibitor

scientific article

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

scientific article published on 19 May 2011

In vitro studies on the relationship between polyunsaturated fatty acids and cancer: tumour or tissue specific effects?

scientific article

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

scientific article

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

scientific article

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

scientific article

Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice

scientific article

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

scientific article published on 29 May 2012

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype ⬇️

scientific article

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

scientific article published on April 2014

Role of PPARgamma and EGFR signalling in the urothelial terminal differentiation programme

scientific article published on 30 March 2004

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data

scientific article

Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome

scientific article

List of works by Christine Diggle

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development. ⬇️

An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas ⬇️

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

DNA double strand break repair in human bladder cancer is error prone and involves microhomology-associated end-joining

Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes ⬇️

Development of a rapid, small-scale DNA repair assay for use on clinical samples

Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy

Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

High-fat and high-sucrose (western) diet induces steatohepatitis that is dependent on fructokinase

Identification of genes up-regulated in urothelial tumors: the 67-kd laminin receptor and tumor-associated trypsin inhibitor

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

In vitro studies on the relationship between polyunsaturated fatty acids and cancer: tumour or tissue specific effects?

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype ⬇️

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

Role of PPARgamma and EGFR signalling in the urothelial terminal differentiation programme

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data

Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome