ORCID Profile
0000-0003-0376-7736
Current Organisation
The University of Edinburgh
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Publisher: Springer Science and Business Media LLC
Date: 04-11-2022
DOI: 10.1038/S41467-022-34349-8
Abstract: Embryonic development is dictated by tight regulation of DNA replication, cell ision and differentiation. Mutations in DNA repair and replication genes disrupt this equilibrium, giving rise to neurodevelopmental disease characterized by microcephaly, short stature and chromosomal breakage. Here, we identify biallelic variants in two components of the RAD18-SLF1/2-SMC5/6 genome stability pathway, SLF2 and SMC5 , in 11 patients with microcephaly, short stature, cardiac abnormalities and anemia. Patient-derived cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy. To signify the importance of these segmented chromosomes, we have named this disorder Atelís (meaning - incomplete) Syndrome. Analysis of Atelís Syndrome cells reveals elevated levels of replication stress, partly due to a reduced ability to replicate through G-quadruplex DNA structures, and also loss of sister chromatid cohesion. Together, these data strengthen the functional link between SLF2 and the SMC5/6 complex, highlighting a distinct role for this pathway in maintaining genome stability.
Publisher: S. Karger AG
Date: 23-02-2013
DOI: 10.1159/000349989
Abstract: b i Background/Aims: /i /b Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. b i Methods: /i /b We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. b i Results: /i /b All patients had bi-allelic i FAM20A /i mutations segregating with the disease 20 different mutations were identified. b i Conclusions: /i /b This au-tosomal recessive disorder, also known as enamel renal syndrome, of i FAM20A /i causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all in iduals with biallelic i FAM20A /i mutations will eventually show nephrocalcinosis.
Publisher: Springer Science and Business Media LLC
Date: 24-06-2020
Publisher: Elsevier BV
Date: 02-2010
Publisher: American Association for the Advancement of Science (AAAS)
Date: 30-03-2016
DOI: 10.1126/SCITRANSLMED.AAF1471
Abstract: A mutation in pyrin that disrupts regulation leads to autoinflammatory disease.
Publisher: Public Library of Science (PLoS)
Date: 15-12-2020
DOI: 10.1371/JOURNAL.PBIO.3001030
Abstract: With the ongoing COVID-19 (Coronavirus Disease 2019) pandemic, caused by the novel coronavirus SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus 2), there is a need for sensitive, specific, and affordable diagnostic tests to identify infected in iduals, not all of whom are symptomatic. The most sensitive test involves the detection of viral RNA using RT-qPCR (quantitative reverse transcription PCR), with many commercial kits now available for this purpose. However, these are expensive, and supply of such kits in sufficient numbers cannot always be guaranteed. We therefore developed a multiplex assay using well-established SARS-CoV-2 targets alongside a human cellular control ( RPP30 ) and a viral spike-in control (Phocine Herpes Virus 1 [PhHV-1]), which monitor s le quality and nucleic acid extraction efficiency, respectively. Here, we establish that this test performs as well as widely used commercial assays, but at substantially reduced cost. Furthermore, we demonstrate ,000-fold variability in material routinely collected by combined nose and throat swabbing and establish a statistically significant correlation between the detected level of human and SARS-CoV-2 nucleic acids. The inclusion of the human control probe in our assay therefore provides a quantitative measure of s le quality that could help reduce false-negative rates. We demonstrate the feasibility of establishing a robust RT-qPCR assay at approximately 10% of the cost of equivalent commercial assays, which could benefit low-resource environments and make high-volume testing affordable.
Publisher: Elsevier BV
Date: 03-2019
Publisher: Elsevier BV
Date: 12-2018
Publisher: Springer Science and Business Media LLC
Date: 06-05-2020
Publisher: Elsevier BV
Date: 12-2013
Publisher: Elsevier BV
Date: 09-2011
Publisher: Elsevier BV
Date: 05-2009
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for David Parry.