Research By Disease – CheckOrphan

Disease: Bartter syndrome- type 3

Modus operandi of ClC-K2 Cl- Channel in the Collecting Duct Intercalated Cells
A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient
A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report
A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis
A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate
A novel mutation associated with Type III Bartter syndrome: A report of five cases
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I
Acquired Bartter-like Syndrome Presenting with Polyuria and Reversible Hypokalemia Associated with Colistin Use in a Critically Ill Pediatric Patient
Acute kidney injury in type 3 Bartter syndrome: Angiotensin-converting enzyme inhibitors as a cause
Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review
Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia
Amniotic fluid biochemistry in isolated polyhydramnios: a series of 464 cases
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate
Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene
Assessing the Relationship of Angiotensin II Type 1 Receptors with Erythropoietin in a Human Model of Endogenous Angiotensin II Type 1 Receptor Antagonism
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome
Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations
Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness
Bartter syndrome type 3 in an elderly complicated with adrenocorticotropin-deficiency
Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen
Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation
Bartter syndrome type III with only a synonymous mutation of the CLCNKB gene
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts
Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies
Calcitonin gene-related peptide, heme oxygenase-1, endothelial progenitor cells and nitric oxide-dependent vasodilation relationships in a human model of angiotensin II type-1 receptor antagonism
Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism
Calcium-sensing receptor: Role in health and disease
Chronic pancreatitis with type V Bartter syndrome: An unusual presentation
Classic Bartter Syndrome: A Cause of Severe Hypokalemic Metabolic Alkalosis
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels
Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases
Clinical and Genetic Spectrum of Bartter Syndrome Type 3
Clinical characteristics of HNF1B-related disorders in a Japanese population
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations
Congenital chloride diarrhea misdiagnosed as Bartter syndrome
Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics
Diseases associated with calcium-sensing receptor
Diverse genotypical features and impacts on clinical course and severity of cystic fibrosis: early childhood experience
Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome
Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I
Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II
Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome
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
Genetic heterogeneity in patients with Bartter syndrome type 1
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation
Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features
Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report
Hypokalemia and hearing loss in a 3-year-old boy: Questions
Hypokalemia in a young manthink Bartter syndrome type 3
Hypokalemic paralysis in a middle-aged female with classic Bartter syndrome
Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes
Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis
In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening
Increased level of p63RhoGEF and RhoA/Rho kinase activity in hypertensive patients
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy
Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions
Loss of sodium chloride co-transporter impairs the outgrowth of the renal distal convoluted tubule during renal development
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis
Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center
New perspective of ClC-Kb/2 Cl- channel physiology in the distal renal tubule
Osteomalacia in a Case of Adult-Onset Bartter Syndrome
Paradoxical hypertension and salt wasting in Type II Bartter syndrome
Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
Rare diseases caused by abnormal calcium sensing and signalling
Regulation of kidney on potassium balance and its clinical significance
Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme
Salt-losing nephropathy in mice with a null mutation of the Clcnk2 gene
Severe early onset hydramnios in a singleton pregnancy due to antenatal Bartter syndrome
Severe hypocalcaemia episodes in a patient of primary hypoparathyroidism precipitated by underlying stress due to haemophagocytic lymphohistiocytosis (HLH) secondary to pulmonary tuberculosis
Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree
SIRT1, heme oxygenase-1 and NO-mediated vasodilation in a human model of endogenous angiotensin II type 1 receptor antagonism: implications for hypertension
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
SPAK deficiency corrects pseudohypoaldosteronism II caused by WNK4 mutation
Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome
Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome model mice through activation of sodium-potassium-2 chloride cotransporter and sodium-chloride cotransporter
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing
The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK
Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice
Two Brothers from Macedonia with Gitelman Syndrome
Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy
Type 3 antenatal Bartter syndrome presenting with mild polyuria
Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
Understanding Bartter syndrome and Gitelman syndrome
Unusual case of failure to thrive: Type III Bartter syndrome
Urinary bladder hypertrophy characteristic of male ROMK Bartter's mice does not occur in female mice
Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes
Whole Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death
Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death