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Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms, and for adequate classification, prognosis, and treatment. Recently, the causes of many kidney diseases have been shown to be single-gene defects-eg, steroid-resistant nephrotic syndrome, which is caused by podocin mutations in about 25% of children and nearly ...
Friedhelm Hildebrandt
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Genetic loci influencing kidney function and chronic kidney disease [PDF]
Using genome-wide association, we identify common variants at 2p12-p13, 6q26, 17q23 and 19q13 associated with serum creatinine, a marker of kidney function (P = 10 10 to 10 15). Of these, rs10206899 (near NAT8, 2p12-p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney disease (P = 5.0 10 5 and P = 3.6 10 4 ...
Chambers, John C. +94 more
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Lung adenocarcinoma (LUAD) is the most common histological lung cancer, and it is the leading cause of cancer-related deaths worldwide. Long noncoding RNAs (lncRNAs) have been implicated in tumorigenesis.
Wen Wang +7 more
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Congenital anomalies of the kidney and urinary tract (CAKUT) is a general term for a class of diseases that are mostly caused by intrauterine genetic development limitation.
Shanshan Xue +11 more
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Genetic epidemiology in kidney disease [PDF]
Familial aggregation of chronic kidney disease and its component phenotypes-reduced glomerular filtration rate, proteinuria and renal histologic changes-has long been recognized. Rates of severe kidney disease are also known to differ markedly between populations based on ancestry.
Hannah C, Ainsworth +2 more
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Gene therapy for pediatric genetic kidney diseases
Genetic kidney disease is the main cause of chronic kidney disease in children. While the pathogenic genes associated with most genetic kidney diseases have been identified, the underlying mechanisms of disease initiation remain ambiguous, and effective ...
Yi Lu +4 more
doaj +1 more source
The Genetic Architecture of Kidney Disease [PDF]
The kidney is subject to a wide range of abnormalities, many of which have a significant hereditable component. Next generation sequencing is increasingly bringing the genetic drivers of Mendelian disease into focus at the base pair level, whereas inexpensive genotyping arrays have surveyed hundreds of thousands of individuals to identify common ...
Martin R, Pollak, David J, Friedman
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Patient responses to genetic information: Studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice [PDF]
Advances in the genetic basis of kidney disease may mean that genetic testing is increasingly important in reducing disease morbidity and mortality among patients.
Kaphingst, Kimberly A +1 more
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The epidemiology of chronic kidney disease (CKD) in rural East Africa: A population-based study. [PDF]
BackgroundChronic kidney disease (CKD) may be common among individuals living in sub-Saharan Africa due to the confluence of CKD risk factors and genetic predisposition.MethodsWe ascertained the prevalence of CKD and its risk factors among a sample of 3 ...
Atukunda, Mucunguzi +14 more
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Genetics of kidney disease [PDF]
Multiple lines of evidence suggest that susceptibility to develop end-stage renal disease (ESRD) has a significant genetic component. These studies include familial aggregation studies, comparisons of incidence rates between different racial or ethnic populations, and segregation analysis. Multiple approaches have been employed in an effort to identify
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