Renal ammonia in autosomal dominant polycystic kidney disease [PDF]
, 1994 Renal ammonia in autosomal dominant polycystic kidney disease. Recent studies have suggested that defective medullary trapping of ammonia underlies the acidosis associated with renal failure and sets in motion maladaptive compensatory mechanisms that ...
Keith, Douglas S. +4 more
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Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016–2022
Journal of Intellectual Disability Research, Volume 69, Issue 6, Page 457-464, June 2025.ABSTRACT Background Tuberous sclerosis complex (TSC) is a genetic condition caused by mutations in either TSC1 or TSC2 genes, affecting around two million people globally. This study aims to examine causes of death in TSC and explore factors contributing to mortality in people with TSC in the United Kingdom in recent years following updated management ...
Callum Richard Thomas Kidson +2 more
wiley +1 more source
Autosomal dominant polycystic kidney disease: updated perspectives
Therapeutics and Clinical Risk Management, 2019 Anjay Rastogi,1 Khalid Mohammed Ameen,1 Maha Al-Baghdadi,1 Kelly Shaffer,1 Niloofar Nobakht,1 Mohammad Kamgar,1 Edgar V Lerma21Department of Medicine, Division of Nephrology, David Geffen School of Medicine, Los Angeles, CA, USA; 2Department of Medicine,
Rastogi A +6 more
doaj
A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease [PDF]
, 2015 Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide.
Al-Mulla, Fahd +8 more
core
Renal Transplantation in Autosomal Dominant Polycystic Kidney Disease [PDF]
European Medical Journal Nephrology, 2015 Autosomal dominant polycystic kidney disease (ADPKD) affects approximately 1 in 1,000 people in the general population. The natural history of ADPKD includes the progression of chronic kidney disease to end-stage renal disease (ESRD) in a large ...
Andrzej Kulesza +2 more
doaj
Вестник трансплантологии и искусственных органов, 2019 Aim. To investigate the renal transplantation results for patients with end-stage renal disease (ESRD) due to autosomal dominant polycystic kidney disease (PKD).Materials and methods.
V. S. Daineko +8 more
doaj +1 more source
A polycystin-centric view of cyst formation and disease: the polycystins revisited [PDF]
, 2015 It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into
Harris, P.C., Ong, A.C.M.
core +2 more sources
A genomic dominion with regulatory dependencies on human-specific single-nucleotide changes in Modern Humans [PDF]
arXiv, 2019 Gene set enrichment analyses of 8,405 genes linked with 35,074 human-specific (hs) regulatory single-nucleotide changes (SNCs) revealed the staggering breadth of significant associations with morphological structures, physiological processes, and pathological conditions of Modern Humans.
arxiv
Structural and molecular basis of the assembly of the TRPP2/PKD1 complex [PDF]
, 2009 Mutations in PKD1 and TRPP2 account for nearly all cases of autosomal dominant polycystic kidney disease (ADPKD). These 2 proteins form a receptor/ion channel complex on the cell surface. Using a combination of biochemistry, crystallography, and a single-
Buraei, Z. +8 more
core +3 more sources
Sirolimus and kidney growth in autosomal dominant polycystic kidney disease [PDF]
, 2010 BACKGROUND: In autosomal dominant polycystic kidney disease (ADPKD), aberrant activation of the mammalian target of rapamycin (mTOR) pathway is associated with progressive kidney enlargement. The drug sirolimus suppresses mTOR signaling. METHODS: In this
Kistler, A D +12 more
core +1 more source