Results 71 to 80 of about 30,053 (265)
Developmental Medicine &Child Neurology, EarlyView.Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance
Ana Alarcón +33 more
wiley +1 more source
Pain in Autosomal Dominant Polycystic Kidney Disease [PDF]
European Medical Journal Nephrology, 2014 Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and is responsible for 10% of cases of end-stage renal disease.
Mariusz Niemczyk
doaj
Polycystic Kidney Disease Drug Development: A Conference Report
Kidney Medicine, 2023 Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum of inherited diseases that also includes autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and an expanding group of recessively ...
Max C. Liebau +4 more
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A systems-biology approach to understanding the ciliopathy disorders. [PDF]
, 2011 'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core +1 more source
Diabetes, Obesity and Metabolism, EarlyView.Abstract Albuminuria, the abnormal presence of albumin in urine, is a key marker of kidney damage and a strong predictor of kidney and cardiovascular outcomes. Its clinical significance has evolved from early historical observations to its current role in chronic kidney disease (CKD) detection, risk stratification and treatment monitoring.
Jelle M. Beernink +4 more
wiley +1 more source
Journal of Ultrasonography, 2013 Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney
Izabela Cwojdzińska-Jankowska +1 more
doaj
Tuberous sclerosis complex—varied presentations in family clusters
Indian Journal of Dermatology, 2023 Tuberous sclerosis complex (TSC) is a disease of varying presentations characterised by the presence of multiple hamartomas in various organ systems in the body.
Ayush Sopori +3 more
doaj +1 more source
Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]
, 2006 PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E. +4 more
core +2 more sources
Emerging roles for integrated stress response signaling in homeostasis
The FEBS Journal, EarlyView.Integrated stress response (ISR), an evolutionarily conserved eukaryotic stress‐adaptive program in eukaryotes, has also been implicated in homeostatic functions. This review covers a broad body of literature and presents several homeostatic functions of ISR in the absence of stress: (a) developmental processes (morphogenesis, differentiation, aging), (
Shyama Nandakumar +2 more
wiley +1 more source
Native Nephrectomy with Renal Transplantation Decreases Hypertension Medication Requirements in Autosomal Dominant Polycystic Kidney Disease [PDF]
, 2016 Purpose We assessed hypertensive control after native nephrectomy and renal transplantation in patients with autosomal dominant polycystic kidney disease.
Bahler, Clinton D. +4 more
core +1 more source