Results 11 to 20 of about 7,541,678 (261)

Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients [PDF]

open access: yesThe Korean Journal of Internal Medicine, 2021
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease. It is characterized by cyst growth in the kidneys, resulting in kidney enlargement and end-stage kidney disease. The polycystic kidney disease 1 (PKD1) and
Yun Kyu Oh   +4 more
doaj   +1 more source

Gene therapy for pediatric genetic kidney diseases

open access: yesPediatric Discovery, 2023
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

Genome-wide association and functional follow-up reveals new loci for kidney function [PDF]

open access: yes, 2012
Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new
Döring, Angela   +999 more
core   +1 more source

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8 [PDF]

open access: yes, 2012
Background Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults.
Morahan, G.   +23 more
core   +1 more source

New susceptibility Loci associated with kidney disease in type 1 diabetes [PDF]

open access: yes, 2012
Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation.
Benjamin J. Keller (135013)   +596 more
core   +1 more source

Chemokine receptor CCR1: A new target for progressive kidney disease [PDF]

open access: yes, 2005
Infiltrating leukocytes are thought to contribute to the progression of kidney disease. Locally produced chemokines guide circulating leukocytes into the kidney, which renders therapeutic blockade of respective chemokine receptors on the leukocyte ...
Hans-Joachim Anders   +3 more
core   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

open access: yes, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J   +59 more
core   +1 more source

Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD [PDF]

open access: yes, 2011
Family studies suggest a genetic component to the etiology of chronic kidney disease (CKD) and end stage renal disease (ESRD). Previously, we identified 16 loci for eGFR in genome-wide association studies, but the associations of these single nucleotide ...
Kronenberg, F   +221 more
core   +1 more source

Autosomal dominant polycystic kidney disease in hemodialysis patients in southern Brazil [PDF]

open access: yes, 2014
INTRODUCTION: Autosomal dominant polycystic kidney disease is the most common hereditary renal disease in humans. OBJECTIVE: To examine the prevalence, clinical and laboratory characteristics of patients with polycystic kidneys and relate disease ...
Torres, Paulo Roberto Aranha   +17 more
core   +1 more source

Atypical Polycystic Kidney Disease as defined by Imaging

open access: yesScientific Reports, 2023
Using age- and height-adjusted total kidney volume, the Mayo Clinic Imaging Classification provides a validated approach to assess the risk of chronic kidney disease (CKD) progression in autosomal dominant polycystic kidney disease (ADPKD), but requires ...
Ioan-Andrei Iliuta   +13 more
doaj   +1 more source

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