Lista de obras - Christine Diggle - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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 ⬇️

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Lista de obras de 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