Disease: Bartter syndrome- antenatal- type 1
- A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels
- A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levels
- A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients
- A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I
- A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome
- Accentuated hyperparathyroidism in type II Bartter syndrome
- Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review
- Antenatal Bartter's syndrome: why is this not a lethal condition?
- Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism
- Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis
- AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2
- Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts
- Bartter's syndrome: clinical findings, genetic causes and therapeutic approach
- Bartter's syndromes
- Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis
- Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I
- Factors Associated with Infant Feeding Methods after the Nuclear Power Plant Accident in Fukushima: Data from the Pregnancy and Birth Survey for the Fiscal Year 2011 Fukushima Health Management Survey
- Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ
- Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome
- Genetic heterogeneity in patients with Bartter syndrome type 1
- Gitelman syndrome
- Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course
- In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation
- Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy
- Late-Onset Bartter's Syndrome Type II with End-Stage Renal Disease Due to a Novel Mutation in KCNJ1 Gene in an Indian Adult Male - A Case Report
- Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter
- Long-term follow-up of patients with Bartter syndrome type I and II
- Mouse model of type II Bartter's syndrome. I. Upregulation of thiazide-sensitive Na-Cl cotransport activity
- Mouse model of type II Bartter's syndrome. II. Altered expression of renal sodium- and water-transporting proteins
- Na+-K+-2Cl- cotransporter type 2 trafficking and activity: the role of interacting proteins
- Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1
- OS9 Protein Interacts with Na-K-2Cl Co-transporter (NKCC2) and Targets Its Immature Form for the Endoplasmic Reticulum-associated Degradation Pathway
- Pharmacologic inhibition of the renal outer medullary potassium channel causes diuresis and natriuresis in the absence of kaliuresis
- Reciprocal Regulation of MAGED2 and HIF-1α Augments Their Expression under Hypoxia: Role of cAMP and PKA Type II
- Recurrent transient severe hypocalcaemia in two siblings with type 1 Bartter syndrome
- Recurrent urinary tract infections in an infant with antenatal Bartter syndrome
- Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants
- Severe early onset hydramnios in a singleton pregnancy due to antenatal Bartter syndrome
- Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
- The inwardly rectifying potassium channel Kir1.1: development of functional assays to identify and characterize channel inhibitors
- The Renal Outer Medullary Potassium Channel Inhibitor, MK-7145, Lowers Blood Pressure, and Manifests Features of Bartter's Syndrome Type II Phenotype
- The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK
- Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report
- Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome
- Type 3 antenatal Bartter syndrome presenting with mild polyuria