Results 31 to 40 of about 1,154 (162)

Osteomalacia in a Case of Adult-Onset Bartter Syndrome [PDF]

, 2017
Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and ...
Naseem Khan, Rashid, Saba, Farhana
core   +3 more sources

Normal sweat chloride test does not rule out cystic fibrosis

The Turkish Journal of Pediatrics, 2017
A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis.
Abdurrahman Erdem Başaran, Nimet Karataş-Torun, İbrahim Cemal Maslak, Ayşen Bingöl, Özgül M Alper   +4 more
doaj   +1 more source

Canalopatias em endocrinologia: achados genéticos recentes e fisiopatologia [PDF]

, 2010
Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell motility and growth, volume ...
Chiamolera, Maria Izabel, Dias-da-Silva, Magnus Régios, Fujikawa, Aline M., Kunii, Ilda S., Lindsey, Susan C., Maciel, Rui Monteiro de Barros, Rolim, Ana Luiza R., Soares, Fernando de Almeida   +7 more
core   +2 more sources

Molecular pharmacology of kidney and inner ear CLC-K chloride channels

Frontiers in Pharmacology, 2010
CLC-K channels belong to the CLC gene family, which comprises both Cl- channels and Cl-/H+ antiporters. They form homodimers which additionally co-assemble with the small protein barttin.
Antonella eGradogna, Michael ePusch
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Relationship between NOX4 level and angiotensin II signaling in Gitelman's syndrome. Implications with hypertension [PDF]

, 2015
Recent evidence showed that endogenous nicotinamide adenine dinucleotide phosphate-oxidase 4 (NOX4) may exert a protective role on the cardiovascular system inducing vasodilation, reduction of blood pressure, and anti-proliferative actions.
Calò, Lorenzo A, Davis, Paul A, Maiolino, Giuseppe, Pagnin, Elisa, Ravarotto, Verdiana, Savoia, Carmine   +5 more
core  

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

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Aldosterone modulates the association between NCC and ENAC [PDF]

, 2017
Distal sodium transport is a final step in the regulation of blood pressure. As such, understanding how the two main sodium transport proteins, the thiazide-sensitive sodium chloride cotransporter (NCC) and the epithelial sodium channel (ENaC), are ...
Al-Khalili, Otor, Eaton, Douglas C., Hoover, Robert S., Mallick, Rickta, Mistry, Abinash C., Theilig, Franziska, Wynne, Brandi M.   +6 more
core   +1 more source

Antenatal Bartter Syndrome as a Rare Cause of Severe Polyhydramnios: A Case Report and Review of the Literature

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Severe polyhydramnios occurs in 1%–2% of pregnancies and may be associated with maternal diabetes, fetal structural anomalies, genetic disorders, or remain idiopathic. Among the rare etiologies is Bartter syndrome, a renal tubular defect causing impaired salt reabsorption.
Fatemeh Shariati nia, Atefe Hashemi, Shaghayegh Moradi Alamdarloo, Maryam Kasraeian, Dorna Derakhshan, Hamide Barzegar   +5 more
wiley   +1 more source