A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. [PDF]
PLoS Genetics, 2012 Nephrolithiasis is a common nephrologic disorder with complex etiology. To identify the genetic factor(s) for nephrolithiasis, we conducted a three-stage genome-wide association study (GWAS) using a total of 5,892 nephrolithiasis cases and 17,809 ...
Yuji Urabe +11 more
doaj +1 more source
Prevalence of osteoporosis in patients with nephrolithiasis and vice versa: a cumulative analysis
Frontiers in Endocrinology, 2023 PurposeNephrolithiasis is thought to be a risk factor for osteoporosis, but data assessing if osteoporosis predisposes to the risk of nephrolithiasis are lacking.
Shunjie Jia +6 more
doaj +1 more source
Climate change and the kidney [PDF]
, 2019 The worldwide increase in temperature has resulted in a marked increase in heat waves (heat extremes) that carries a markedly increased risk for morbidity and mortality.
Butler-Dawson, Jaime +12 more
core +1 more source
Recent finding and new technologies in nephrolithiasis: a review of the recent literature [PDF]
, 2013 This review summarizes recent literature on advances regarding renal and ureteral calculi, with particular focus in areas of recent advances in the overall field of urolithiasis.
Bove P +6 more
core +1 more source
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]
, 2004 CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
Anis, Miliea +7 more
core +6 more sources
Nephrolithiasis in patients with inflammatory bowel disease in the community [PDF]
, 2014 Background: Inflammatory bowel disease (IBD) has been associated with renal stone formation. The objective of this study was to determine prospectively the prevalence of nephrolithiasis in a community-based population of patients with IBD and to analyze ...
Cury, Dídia Bismara +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz +12 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Dotinurad is a selective urate reabsorption inhibitor that reduces serum urate levels. We compared the efficacy and safety of dotinurad with febuxostat in Chinese patients with gout. Methods This phase 3, multicenter, randomized, double‐blind, parallel‐group study randomly allocated (1:1) eligible patients with gout to receive oral dotinurad ...
Jia Sun +19 more
wiley +1 more source
Risk factors for gallstones and kidney stones in a cohort of patients with inflammatory bowel diseases [PDF]
, 2017 Gallstones and kidney stones are known complications of inflammatory bowel diseases (IBD). Risk factors have been insufficiently studied and explanatory studies date back up to 30 years.
Battegay, Edouard +12 more
core +8 more sources
Effect of vitamin D3 supplement in glycemic control of pediatrics with type 1 diabetes mellitus and vitamin D deficiency [PDF]
, 2015 Background: Glycemic control prevents microvascular complications in patients with type I diabetes mellitus such as retinopathy, nephropathy and neuropathy that influences quality of life.
Fatahi, N. +3 more
core +1 more source