Results 91 to 100 of about 7,332 (203)

The Concise Guide to PHARMACOLOGY 2025/26: Transporters

British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +28 more
wiley   +1 more source

Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia [PDF]

, 2015
Deletion of exon 9 from Cullin‐3 (CUL3, residues 403–459: CUL3Δ403–459) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt).
Al Maskari, Raya S., Cleary, Sarah E., Enchev, Radoslav, Ferryman, James T., Figg, Nichola L., Hardege, Iris, Johnson, Clare, Knebel, Axel, Kurz, Thimo, O'Shaughnessy, Kevin M., Schumacher, Frances-Rose, Siew, Keith, Wood, Nicola, Yasmin,, Zhang, Jinwei   +14 more
core   +4 more sources

Renal phosphate handling in Gitelman syndrome—the results of a case-control study [PDF]

, 2018
Background: Patients with Gitelman syndrome, a hereditary salt-wasting tubulopathy, have loss-of-function mutations in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.
Albisetti, Walter, Amoruso, Chiara, Barretta, Francesco, Bettinelli, Alberto, Bianchetti, Mario, Minnici, Giuseppe, Syrèn, Marie-Louise, Viganò, Cristina   +7 more
core  

Antagonistic regulation of parvalbumin expression and mitochondrial calcium handling capacity in renal epithelial cells [PDF]

, 2015
Parvalbumin (PV) is a cytosolic Ca²⁺-binding protein acting as a slow-onset Ca²⁺ buffer modulating the shape of Ca²⁺ transients in fast-twitch muscles and a subpopulation of neurons. PV is also expressed in non-excitable cells including distal convoluted
Henzi, Thomas, Schwaller, Beat
core   +3 more sources

Single‐Cell RNA Sequencing Delineates Renal Anti‐Fibrotic Mechanisms Mediated by TRPC6 Inhibition

Advanced Science, Volume 12, Issue 33, September 4, 2025.
Single‐cell transcriptomics reveals how TRPC6 inhibition alters renal cell composition and gene expression in CKD. The study uncovers a novel endothelial subpopulation (ECRIN), highlights key inflammatory and fibrotic pathways, and identifies a Prnp‐driven network linked to fibrosis resolution, offering mechanistic insight into TRPC6 as a potential ...
Yao Xu, Zhihuang Zheng, Marleen Silke Oswald, Guozhe Cheng, Jun Liu, Qidi Zhai, Ute Kruegel, Michael Schaefer, Holger Gerhardt, Nicole Endlich, Maik Gollasch, Stefan Simm, Dmitry Tsvetkov   +12 more
wiley   +1 more source

Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]

, 2017
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC, Bina Joe, Biron P, Biron P, Bright R, Cook HW, Dublin LI, Dublin LI, Dupont J, Esunge PM, Felts JH, Garrod AE, Garrod AE, Garrod AE, Hamilton M, Hamilton M, Hamilton M, Joe B, Koffler M, Korner PI, Kuijpers MH, Lee YH, Lewis O, Markel’ AL, Matsukawa N, Mo R, Ohno Y, Pickering GW, Pravenec M, Sandosh Padmanabhan, Schlager G, Shear CL, Shiozawa M, Smolarek I, Zhang Y   +34 more
core   +1 more source

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia [PDF]

, 2017
Background Magnesium (Mg2+) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg2+ levels
Bindels, René J.M., Dahan, Karin, de Baaij, Jeroen H.F., Devuyst, Olivier, Dorresteijn, Eiske M., Hennekam, Eric A.M., Hoenderop, Joost G.J., Kamsteeg, Erik-Jan, Knoers, Nine V.A.M., Meijer, Rowdy, Muller, Michelle, van den Dorpel, Marinus A.   +11 more
core  

Primary renal potassium wasting syndrome in a juvenile domestic medium‐hair cat secondary to an atypical distal renal tubular disorder of undetermined molecular origin

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract Renal potassium wasting syndromes, such as Gitelman's syndrome (GS), are well documented in humans but rarely reported in veterinary medicine. This case describes a 6‐month‐old domestic medium‐hair cat presenting with chronic hypokalaemia, polyuria and polydipsia. Diagnostic evaluation revealed hypokalaemia, metabolic alkalosis, hypochloraemia
Kyle L. Granger Jr., Vivian Ojeda‐Rosenthal, Mei Lun Mui   +2 more
wiley   +1 more source

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies [PDF]

, 2018
Inherited retinal diseases (IRD) are a heterogeneous group of diseases that mainly affect the retina; more than 250 genes have been linked to the disease and more than 20 different clinical phenotypes have been described.
Anasagasti, Ander, Barandika, Olatz, Ezquerra-Inchausti, Maitane, Galdós, Marta, Garai-Aramburu, Gonzaga, Irigoyen, Cristina, López de Munain Arregui, Adolfo José, Ruiz-Ederra, Javier   +7 more
core   +4 more sources

Clinical and genetic features in 30 children with Gitelman syndrome

BMC Nephrology
Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder caused by SLC12A3 gene variants. This study aimed to retrospectively analyze the clinical and genetic characteristics of pediatric GS patients and validate the ...
Qian-qian Sheng, Shu-min He, Gui-xia Ding   +2 more
doaj   +1 more source