Liddle syndrome: review of the literature and description of a new case

M Tetti, S Monticone, J Burrello, P Matarazzo… - International journal of …, 2018 - mdpi.com
Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an
autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline …

USP2-related cellular signaling and consequent pathophysiological outcomes

H Kitamura, M Hashimoto - International Journal of Molecular Sciences, 2021 - mdpi.com
Ubiquitin specific protease (USP) 2 is a multifunctional deubiquitinating enzyme. USP2
modulates cell cycle progression, and therefore carcinogenesis, via the deubiquitination of …

[HTML][HTML] The renal physiology of pendrin-positive intercalated cells

SM Wall, JW Verlander… - Physiological reviews, 2020 - journals.physiology.org
Intercalated cells (ICs) are found in the connecting tubule and the collecting duct. Of the
three IC subtypes identified, type B intercalated cells are one of the best characterized and …

Genetic predisposition to salt-sensitive normotension and its effects on salt taste perception and intake

L Pilic, Y Mavrommatis - British Journal of Nutrition, 2018 - cambridge.org
Salt sensitivity is an independent CVD and mortality risk factor, which is present in both
hypertensive and normotensive populations. It is genetically determined and it may affect the …

Regulation of Orai1/STIM1 by the kinases SGK1 and AMPK

F Lang, A Eylenstein, E Shumilina - Cell calcium, 2012 - Elsevier
STIM and Orai isoforms orchestrate store operated Ca2+ entry (SOCE) and thus cytosolic
Ca2+ fluctuations following stimulation by hormones, growth factors and further mediators …

Screening for differential methylation status in human placenta in preeclampsia using a CpG island plus promoter microarray

RZ Jia, X Zhang, P Hu, XM Liu… - International …, 2012 - spandidos-publications.com
The development of preeclampsia (PE) seriously affects the health of the mother and the
child, but the precise pathogenesis of PE remains elusive. The placenta is considered to …

The molecular makeup of peripheral and central baroreceptors: stretching a role for Transient Receptor Potential (TRP), Epithelial Sodium Channel (ENaC), Acid …

H Yang, L Tenorio Lopes, NO Barioni… - Cardiovascular …, 2022 - academic.oup.com
The autonomic nervous system maintains homeostasis of cardiovascular, respiratory,
gastrointestinal, urinary, immune, and thermoregulatory function. Homeostasis involves a …

NDFIP allows NEDD4/NEDD4L-induced AQP2 ubiquitination and degradation

C Trimpert, D Wesche, T de Groot… - PLoS …, 2017 - journals.plos.org
Regulation of our water homeostasis is fine-tuned by dynamic translocation of Aquaporin-2
(AQP2)-bearing vesicles to and from the plasma membrane of renal principal cells. Whereas …

The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus

S Rosset, S Tzur, DM Behar, WG Wasser… - Nature Reviews …, 2011 - nature.com
Many rare kidney disorders exhibit a monogenic, Mendelian pattern of inheritance.
Population-based genetic studies have identified many genetic variants associated with an …

Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics

J Basson, J Simino, DC Rao - Current hypertension reports, 2012 - Springer
Blood pressure has a significant genetic component, but less than 3% of the observed
variance has been attributed to genetic variants identified to date. Candidate gene studies of …