The calcilytic agent NPS 2143 rectifies hypocalcemia in a mouse model with an activating calcium-sensing-receptor (CaSR) mutation:relevance to autosomal dominant hypocalcemia type 1 (ADH1) [PDF]
, 2015 Autosomal dominant hypocalcemia type 1 (ADH1) is caused by germline gain-of-function mutations of the calcium-sensing receptor (CaSR) and may lead to symptomatic hypocalcemia, inappropriately low serum parathyroid hormone (PTH) concentrations and ...
Allen M. Spiegel +44 more
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Status epilepticus as the only presentation of the neonatal Bartter syndrome
Indian Journal of Endocrinology and Metabolism, 2012 Bartter syndrome is a rare hereditary (autosomal recessive) salt-losing tubulopathy characterized by hypokalemia, hypochloremia, metabolic alkalosis, and normal blood pressure with hyperreninemia, The underlying renal abnormality results in excessive ...
Soumya Patra +5 more
doaj +1 more source
Neonatal Bartter syndrome: A case report from Northern India
Український Журнал Нефрології та Діалізу, 2021 . Bartter Syndrome is a rare genetic disorder affecting the renal tubular system causing a decreased absorption of sodium and chloride in the thick ascending limb of the Henle loop. Most children present in infancy with complaints of polyuria, polydipsia,
Astitva Singh +4 more
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Unusual case of failure to thrive: Type III Bartter syndrome
Journal of Nepal Health Research Council, 2017 Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney.
Sumit Agrawal +3 more
doaj +1 more source
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]
, 2004 CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
Anis, Miliea +7 more
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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
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Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome
Frontiers in Genetics, 2020 Objective Type III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB), and is characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism.
Chunli Wang +10 more
semanticscholar +1 more source
Saudi Journal of Anaesthesia, 2012 Bartter′s syndrome is an unusual (estimated incidence is 1.2 per million people) but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes.
Nasser Nooh, Walid Abdullah, Saad Sheta
doaj +1 more source
Síndrome de bartter: uma nova abordagem terapêutica.
Acta Médica Portuguesa, 2011 The Bartter syndrome is a rare hereditary salt-wasting tubulopathy, characterized by metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia of varying severity.
Marta Mendonça +2 more
doaj +1 more source
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
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