Results 41 to 50 of about 6,243 (172)
The role of renal transporters and novel regulatory interactions in the TAL that control blood pressure [PDF]
, 2017 Hypertension (HTN), a major public health issue is currently the leading factor in the global burden of disease, where associated complications account for 9.4 million deaths worldwide every year (98).
Dominiczak, Anna +2 more
core +1 more source
Bartter Syndrome Represented by Recurrent Hypokalemia Attacks: A Case Report
Southern Clinics of Istanbul Eurasia, 2017 Bartter syndrome is a tubular disorder and characterized with hypokalemia, hypokalemic metabolic alkalosis, hyperreninemia, normal blood pressure, increased loss of urinary sodium, potassium and chloride.
Nuran Küçük +4 more
doaj +1 more source
Cryo-EM structure of the potassium-chloride cotransporter KCC4 in lipid nanodiscs. [PDF]
, 2020 Cation-chloride-cotransporters (CCCs) catalyze transport of Cl- with K+ and/or Na+across cellular membranes. CCCs play roles in cellular volume regulation, neural development and function, audition, regulation of blood pressure, and renal function.
Brohawn, Stephen Graf +2 more
core +2 more sources
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 +5 more
wiley +1 more source
Masks of Schwartz-Bartter Syndrome clinical pictures: a case report
Ожирение и метаболизм, 2008 Schwartz-Bartter Syndrome (synonyms: syndrome of inappropriate secretion of antidiuretic hormone syndrome of inappropriate secretion of vasopressin, anti-diabetes insipidus) - this is a rare disease characterized by excessive secretion of antidiuretic ...
E A Pigarova +2 more
doaj +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 +3 more
wiley +1 more source
Long-term follow-up of patients with Bartter syndrome type I and II [PDF]
, 2017 Background. Little information is available on a long-term follow-up in Bartter syndrome type I and II. Methods. Clinical presentation, treatment and long-term follow-up (5.0-21, median 11years) were evaluated in 15 Italian patients with homozygous (n ...
Bettinelli, Alberto +7 more
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Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis [PDF]
, 2011 Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism.
Se Eun Lee +8 more
core +1 more source
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. [PDF]
, 2019 Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Aldahmesh +32 more
core +3 more sources
Bartter Syndrome. A New Therapeutic Approach [PDF]
, 2011 A Síndrome de Bartter é uma tubulopatia hereditária perdedora de sal, rara (cerca de 1,2 novos casos por 100 000 nados vivos por ano1), caracterizada por alcalose metabólica, hipocaliémia, hiperreninémia e hiperaldosterolémia de gravidade variável.
Castro, I, Mendonça, M, Pinheiro, A
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