Results 51 to 60 of about 656,619 (173)
CALCIUM HOMEOSTASIS AND POLYCYSTIN-2 EXPRESSION IN T-LYMPHOBLASTS OF PKD SUBJECTS [PDF]
, 2009 Mutations of polycystin-1 (PC1) and polycystin-2 (PC2), coded by PKD1 and PKD2 genes, account for approximately 85 and 15% of Autosomal Dominant Polycystic Kidney Disease (ADPKD) cases, a common and important inherited kidney disorder.
Durante, Chiara
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Caroli′s syndrome with autosomal recessive polycystic kidney disease
Saudi Journal of Kidney Diseases and Transplantation, 2014 Caroli′s syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis.
Prithi Shenoy +3 more
doaj +1 more source
Therapeutic Potential for CFTR Correctors in Autosomal Recessive Polycystic Kidney DiseaseSummary
Cellular and Molecular Gastroenterology and Hepatology, 2021 Background & Aims: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in PKHD1, encoding fibrocystin/polyductin (FPC). Severe disease occurs in perinates. Those who survive the neonatal period face a myriad of comorbidities,
Murali K. Yanda +2 more
doaj +1 more source
Iron and Other Metal Ions in Human Health and Disease
MedComm, Volume 7, Issue 10, October 2026.Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley +1 more source
New Therapies Targeting Cystogenesis in Autosomal Polycystic Kidney Disease [PDF]
, 2017 Autosomal dominant polycystic kidney disease is the most common inherited kidney disease and results from mutations in the polycystin 1 gene (PKD1) or the polycystin 2 gene (PKD2).
Aris Tsalouchos, Maurizio Salvadori
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Zdorovʹe Rebenka, 2012 The article deals with features of polycystic kidney disease course at the present stage according to literature data and results of own clinical studies. It was proved that autosomal recessive polycystic kidney disease has the most unfavorable prognosis:
I.S. Lembryk +3 more
doaj +1 more source
Severe Intracranial Hemorrhage in a Newborn with Autosomal Recessive Polycystic Kidney Disease [PDF]
, 2018 Autosomal recessive polycystic kidney disease (ARPKD)is an autosomal recessive inherited developmental kidney disorder characterized by bilateral cystic dilatation of renal collecting ducts.
Spasojević, Slobodan +4 more
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Emerging Therapies for Childhood Polycystic Kidney Disease
Frontiers in Pediatrics, 2017 Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype.
William E. Sweeney, Ellis D. Avner
doaj +1 more source
IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence
Clinical Obesity, Volume 16, Issue 5, October 2026.ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente +17 more
wiley +1 more source
Autosomal Dominant Polycystic Kidney Disease: Review and Management Update [PDF]
, 2014 Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited nephropathy. Initially, it is characterised by the growth of renal cysts. Later, progressive deterioration of renal function determines the prognosis of ADPKD, depending on
Víctor Martínez
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