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Autosomal dominant polycystic kidney disease in Toronto [PDF]
Kidney International, 1993 This study describes the Toronto, Ontario experience with autosomal dominant polycystic kidney disease (ADPKD). Patients were divided into three groups: Group 1, 19 families studied with genetic markers; Group 2, 80 pre-dialysis ADPKD patients followed by Toronto nephrologists in whom the incidence of non-renal complications and the mean age of onset ...
E. Alexander Williams +4 more
openaire +2 more sources
Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]
, 2018 Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre +10 more
core +2 more sources
Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease [PDF]
Movement Disorders, 2023, 38 (9), pp.1756-1757, 2023 Liu et al. recently reported that biallelic mutations in DAGLB are responsible for autosomal recessive early-onset Parkinson's disease. They identified six patients carrying DAGLB mutations, all of Chinese origin and presenting with typical Parkinson disease.
arxiv +1 more source
Nature Communications, 2021 Autosomal dominant polycystic kidney disease (ADPKD) is caused by germline mutations of PKD1 or PKD2 on one allele and a somatic mutation inactivating the remaining normal allele.
Hao Ding +4 more
semanticscholar +1 more source
Magnetic resonance imaging 3t and total fibrotic volume in autosomal dominant polycystic kidney disease [PDF]
, 2018 INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal hereditary disorder. Several authors have attempted to identify a kidney damage marker for predicting the prognosis and the effectiveness of therapy in ADPKD ...
Ciccariello, Mauro +9 more
core +1 more source
External iliac artery dissection during kidney transplant for polycystic kidney disease : a caveat for surgeons [PDF]
, 2018 Autosomal dominant polycystic kidney disease is a common cause of end-stage renal failure and an indication for transplant. The genetic mutation in autosomal dominant polycystic kidney disease also causes vascular abnormalities, mainly aneurysms but
Karusseit, V.O.L. (Otto)
core +1 more source
An Unusual Cardiac Manifestation in Autosomal Dominant Polycystic Kidney Disease
Case Reports in Nephrology, 2012 Autosomal dominant polycystic kidney disease is a common hereditary disorder characterized by renal and extrarenal, cystic and noncystic manifestations. Connective tissue defects, including cerebral aneurysm, meningeal diverticula, abdominal wall hernias,
Fausta Catapano +6 more
doaj +1 more source
Cardiac Involvement in Autosomal Dominant Polycystic Kidney Disease
Cardiogenetics, 2021 Cardiovascular disorders are the main complication in autosomal dominant polycystic kidney disease (ADPKD). contributing to both morbidity and mortality.
Letizia Spinelli +2 more
doaj +1 more source
Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease [PDF]
, 2016 The neurohypophysial hormone arginine vasopressin (AVP) acts by three distinct receptor subtypes: V1a, V1b, and V2. In the liver, AVP is involved in ureogenesis, glycogenolysis, neoglucogenesis and regeneration. No data exist about the presence of AVP in
Alpini, Gianfranco +11 more
core +1 more source
Pediatria i Medycyna Rodzinna, 2016 Autosomal dominant polycystic kidney disease produces symptoms mainly in adulthood. Renal cysts and/or elevated blood pressure can be the first signs of the disease in children.
Krzysztof Wróblewski +4 more
doaj +1 more source