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    Academic Journals

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• A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes

  Authors:Natalie R. van Zuydam, Emma Ahlqvist, Niina Sandholm, Harshal Deshmukh, N. William Rayner, Moustafa Abdalla, et al.From:Diabetes (Vol. 67, Issue 7) Peer-Reviewed

  July 2018 Report

   Citation Only

• Genetics of Diabetic Nephropathy: a Long Road of Discovery

  Authors:Amy Jayne McKnight, Seamus Duffy, and Alexander P. MaxwellFrom:Current Diabetes Reports (Vol. 15, Issue 7)

  July 2015241 words Report

   Abstract Only

• An Excess of Risk-Increasing Low-Frequency Variants Can Be a Signal of Polygenic Inheritance in Complex Diseases

  Authors:Yingleong Chan, Elaine T. Lim, Niina Sandholm, Sophie R. Wang, Amy Jayne McKnight, Stephan Ripke, et al.From:American Journal of Human Genetics (Vol. 94, Issue 3) Peer-Reviewed

  Mar. 6, 2014410 words Author abstract, Rep...

   Abstract Only

• Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the diabetes control and complications trial/epidemiology of diabetes interventions and complications genetics study

  Authors:Hussam Al- Kateb, Andrew P. Boright, Lucia Mirea, Xinlei Xie, Rinku Sutradhar, Alireza Mowjoodi, et al.From:Diabetes (Vol. 57, Issue 1) Peer-Reviewed

  Jan. 20087,208 words Clinical report 1490LBACKGROUND--Despite familial clustering of nephropathy and retinopathy severity in type 1 diabetes, few gene variants have been consistently associated with these outcomes. RESEARCH DESIGN AND METHODS--We performed...

• Targeted genome-wide investigation identifies novel SNPs associated with diabetic nephropathy

  Authors:Amy Jayne McKnight, Diane Currie, Chris C. Patterson, Alexander P. Maxwell, and Damian G. FogartyFrom:The Hugo Journal (Vol. 3, Issue 1-4) Peer-Reviewed

  Dec. 2009287 words Report

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• Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus

  Authors:Bing He, Anne-May Osterholm, Anna Hoverfalt, Carol Forsblom, Eyrun Edda Hjorleifsdottir, Ann-Sofie Nilsson, et al.From:American Journal of Human Genetics (Vol. 84, Issue 1) Peer-Reviewed

  Jan. 9, 200953 words Report

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• Association Analysis of Canonical Wnt Signalling Genes in Diabetic Nephropathy

  Authors:David H. Kavanagh, David A. Savage, Christopher C. Patterson, Amy Jayne McKnight, John K. Crean, Alexander P. Maxwell, et al.From:PLoS ONE (Vol. 6, Issue 8) Peer-Reviewed

  Aug. 18, 20113,165 words Article 1540LAims/Hypothesis Several studies have provided compelling evidence implicating the Wnt signalling pathway in the pathogenesis of diabetic nephropathy. Gene expression profiles associated with renal fibrosis have been...

• A HuGE Review and Meta-Analyses of Genetic Associations in New Onset Diabetes after Kidney Transplantation

  Authors:Katherine Angela Benson, Alexander Peter Maxwell, and Amy Jayne McKnightFrom:PLoS ONE (Vol. 11, Issue 1) Peer-Reviewed

  Jan. 20, 20165,012 words Report 1390LPurpose New onset diabetes after transplantation (NODAT) is a serious complication following solid organ transplantation. There is a genetic contribution to NODAT and we have conducted comprehensive meta-analysis of...

• Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure

  Authors:Jason Moore, Amy Jayne McKnight, Matthew J. Simmonds, Aisling E. Courtney, Rajesh Hanvesakul, Oliver J.. Brand, et al.From:JAMA, The Journal of the American Medical Association (Vol. 303, Issue 13) Peer-Reviewed

  Apr. 7, 201035 words Clinical report

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• New onset diabetes after transplantation: unravelling the pathophysiological process

  Authors:Jennifer A. McCaughan, Amy Jayne McKnight, and Alexander P. MaxwellFrom:The Lancet (Vol. 383) Peer-Reviewed

  Feb. 26, 201493 words Article

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• Design and implementation of a custom next generation sequencing panel for selected vitamin D associated genes

  Authors:Katherine Angela Benson, Sourabh Chand, Alexander Peter Maxwell, Laura Jane Smyth, Jill Kilner, Richard Borrows, et al.From:BMC Research Notes (Vol. 10, Issue 1) Peer-Reviewed

  July 28, 20177,659 words Article 1510LBackground Biologically active vitamin D has an important regulatory role within the genome. It binds the vitamin D receptor (VDR) in order to control the expression of a wide range of genes as well as interacting...

• Validation of differentially methylated microRNAs identified from an epigenome-wide association study; Sanger and next generation sequencing approaches

  Authors:Laura J. Smyth, Alexander P. Maxwell, Katherine A. Benson, Jill Kilner, Gareth J. McKay, and Amy Jayne McKnightFrom:BMC Research Notes (Vol. 11, Issue 1) Peer-Reviewed

  Oct. 29, 20183,425 words Report 1430LObjectives Altered DNA methylation and microRNA profiles are associated with diabetic kidney disease. This study compared different sequencing approaches to define the genetic and epigenetic architecture of sequences...

• Evaluating the impact of COVID-19 on rare disease support groups.

  Authors:Julie McMullan, Ashleen L. Crowe, Caitlin Bailie, and Amy Jayne McKnightFrom:BMC Research Notes (Vol. 14, Issue 1) Peer-Reviewed

  May 6, 20211,571 words Report 1570LObjectives The impact of the current COVID-19 pandemic has been felt worldwide. Many vulnerable populations rely heavily on peer support provided by individual or collaborative groups. This study aimed to evaluate the...

• Development of next generation sequencing panel for UMOD and association with kidney disease

  Authors:Caitlin Bailie, Jill Kilner, Alexander P. Maxwell, and Amy Jayne McKnightFrom:PLoS ONE (Vol. 12, Issue 6) Peer-Reviewed

  June 13, 20175,911 words Report 1530LChronic kidney disease (CKD) has a prevalence of approximately 10% in adult populations. CKD can progress to end-stage renal disease (ESRD) and this is usually fatal unless some form of renal replacement therapy...

• Comprehensive Investigation of the Caveolin 2 Gene: Resequencing and Association for Kidney Transplant Outcomes

  Authors:Jennifer A. McCaughan, Seamus Duffy, Thomas O'Hagan, Aisling E. Courtney, Richard Borrows, Peter J. Conlon, et al.From:PLoS ONE (Vol. 8, Issue 5) Peer-Reviewed

  May 7, 20135,356 words Article 1410LCaveolae are plasma membrane structures formed from a complex of the proteins caveolin-1 and caveolin-2. Caveolae interact with pro-inflammatory cytokines and are dysregulated in fibrotic disease. Although caveolae are...