Autosomal dominant polycystic kidney disease [PDF]
, 2015 Polycystic kidney disease (PKD) is the commonest life-threatening genetic disease, affecting 12.5 million people worldwide. It is found in all races and occurs equally in men and women.
Attard, Stephanie
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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment [PDF]
Brain - A Journal of Neurology , Oxford University Press (OUP),
2014, 137 (10), pp.2657-2663, 2020 Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1.
arxiv +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
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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
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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
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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
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DINs: Deep Interactive Networks for Neurofibroma Segmentation in Neurofibromatosis Type 1 on Whole-Body MRI [PDF]
IEEE Journal of Biomedical and Health Informatics, 2021, 2021 Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that involves the central and peripheral nervous systems. Accurate detection and segmentation of neurofibromas are essential for assessing tumor burden and longitudinal tumor size changes.
arxiv +1 more source
Caroli′s syndrome in a post renal transplant patient: Case report and review of the literature
The Saudi Journal of Gastroenterology, 2012 Caroli′s syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and
Muhammad Z Bawany +2 more
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Identification, Characterization, and Localization of a Novel Kidney Polycystin-1-Polycystin-2 Complex [PDF]
, 2002 The functions of the two proteins defective in autosomal dominant polycystic kidney disease, polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that they may heterodimerize to form a "polycystin complex" involved ...
Ackermann +43 more
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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
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