Search Results - "Murray, Susan L."
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Monogenic causes of chronic kidney disease in adults
Published in Kidney international (01-04-2019)“…Approximately 500 monogenic causes of chronic kidney disease (CKD) have been identified, mainly in pediatric populations. The frequency of monogenic causes…”
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An Exome Sequencing Study of 10 Families with IgA Nephropathy
Published in Nephron (2015) (01-01-2020)“…Immunoglobulin A nephropathy (IgAN) is a heterogeneous disorder with a strong genetic component. The advent of whole exome sequencing (WES) has accelerated the…”
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Karyomegalic Interstitial Nephritis: Cancer Risk Following Transplantation
Published in Nephron (2015) (2020)“…A brother and sister presented individually in their forties with progressive renal failure, bronchiectasis and mild derangements of their liver function…”
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Utility of Genomic Testing after Renal Biopsy
Published in American journal of nephrology (01-01-2020)“…Renal biopsy is the mainstay of renal pathological diagnosis. Despite sophisticated diagnostic techniques, it is not always possible to make a precise…”
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The impact of switching to mTOR inhibitor-based immunosuppression on long-term non-melanoma skin cancer incidence and renal function in kidney and liver transplant recipients
Published in Renal failure (01-01-2020)“…Solid organ transplantation is associated with increased risk of non-melanoma skin cancer. Studies with short follow up times have suggested a reduced…”
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Calcium and Phosphate Disorders: Core Curriculum 2024
Published in American journal of kidney diseases (01-02-2024)“…Maintaining normal calcium and phosphate homeostasis is essential for optimal cellular, metabolic, and organ function. Parathyroid hormone, fibroblast growth…”
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Fear and the Front Line
Published in The New England journal of medicine (07-05-2020)“…It’s 2014, and a different virus is splashed across the front pages, but the same sort of unease is in the air. The fear itself behaves like a virus: spreading…”
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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
Published in Kidney international reports (01-09-2020)“…Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of…”
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Pivoting From PTH to FGF23 to Mend Breaking Hearts on Dialysis
Published in Circulation research (28-05-2021)Get full text
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Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1
Published in Kidney international (01-11-2022)“…Defective DNA repair pathways contribute to the development of chronic kidney disease (CKD) in humans. However, the molecular mechanisms underlying DNA…”
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Analyzing patient satisfaction in a rural wound care center
Published in TQM journal (29-04-2024)“…PurposeAs healthcare continues to become more expensive and complex, considering the voice of the patient in the design and operation of healthcare practices…”
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Integration of genetic and histopathology data in interpretation of kidney disease
Published in Nephrology, dialysis, transplantation (01-07-2020)“…Abstract For many years renal biopsy has been the gold standard for diagnosis in many forms of kidney disease. It provides rapid, accurate and clinically…”
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Cancer survival in kidney transplant recipients in Ireland
Published in Nephrology, dialysis, transplantation (01-10-2020)“…Transplantation is a well-known risk factor for malignancy. However, outcomes of cancer in transplant recipients compared with non-transplant recipients are…”
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The genetic landscape of polycystic kidney disease in Ireland
Published in European journal of human genetics : EJHG (01-05-2021)“…Polycystic kidney diseases (PKDs) comprise the most common Mendelian forms of renal disease. It is characterised by the development of fluid-filled renal…”
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The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project
Published in Journal of nephrology (01-07-2022)“…Background and aims Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases (GKD). Here, we describe the clinical…”
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Modeling operators' emergency response time for chemical processing operations
Published in Journal of emergency management (Weston, Mass.) (01-11-2014)“…Operators have a crucial role during emergencies at a variety of facilities such as chemical processing plants. When an abnormality occurs in the production…”
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Familial Variability of Disease Severity in Adult Patients With ADPKD
Published in Kidney international reports (01-03-2024)“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic nephropathy and has striking familial variability of disease severity. To…”
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The effects of wearing respirators on human fine motor, visual, and cognitive performance
Published in Ergonomics (01-05-2013)“…When selecting a respirator, it is important to understand how employees' motor, visual and cognitive abilities are impacted by the personal protective…”
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Calcium and phosphate levels after kidney transplantation and long-term patient and allograft survival
Published in Clinical kidney journal (01-04-2021)“…Non-traditional cardiovascular risk factors, including calcium and phosphate derangement, may play a role in mortality in renal transplant. The data regarding…”
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