Published in Nephron Physiol on November 02, 2013
The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss. Neuroscience (2014) 0.94
Molecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels. Physiol Rev (2015) 0.92
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Rare Dis (2016) 0.84
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. Eur J Hum Genet (2016) 0.84
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. Mol Genet Genomic Med (2016) 0.82
Role and mechanisms of regulation of the basolateral Kir 4.1/Kir 5.1 K(+) channels in the distal tubules. Acta Physiol (Oxf) (2016) 0.78
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. J Cell Sci (2015) 0.77
Novel KCNJ10 Gene Variations Compromise Function of Inwardly Rectifying Potassium Channel 4.1. J Biol Chem (2016) 0.77
Lethal digenic mutations in the K(+) channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay. J Neurophysiol (2017) 0.75
Potential and pitfalls in the genetic diagnosis of kidney diseases. Clin Kidney J (2017) 0.75
NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71
The genome of the sea urchin Strongylocentrotus purpuratus. Science (2006) 6.41
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med (2011) 6.34
Molecular structure and physiological function of chloride channels. Physiol Rev (2002) 6.09
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet (2013) 3.87
Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature (2005) 3.60
Large-scale proteomics and phosphoproteomics of urinary exosomes. J Am Soc Nephrol (2008) 3.22
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet (2009) 2.32
Antiphospholipase A2 receptor antibody titer and subclass in idiopathic membranous nephropathy. J Am Soc Nephrol (2012) 2.21
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain (2010) 2.15
The phenotypic spectrum of SCN8A encephalopathy. Neurology (2015) 2.12
Steroid-resistant nephrotic syndrome: impact of genetic testing. Ann Saudi Med (2014) 2.02
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models. Annu Rev Physiol (2005) 1.98
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy. J Am Soc Nephrol (2013) 1.94
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol (2013) 1.90
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med (2007) 1.81
Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol (2006) 1.78
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet (2010) 1.76
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest (2013) 1.74
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant (2012) 1.71
Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study. J Clin Endocrinol Metab (2012) 1.67
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome. J Clin Invest (2012) 1.66
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc Natl Acad Sci U S A (2010) 1.64
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome. Dev Med Child Neurol (2013) 1.61
Distinct roles of different NF-kappa B subunits in regulating inflammatory and T cell stimulatory gene expression in dendritic cells. J Immunol (2007) 1.59
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet (2012) 1.53
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med (2014) 1.53
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J Invest Dermatol (2007) 1.47
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet (2004) 1.45
A fatal case of cerebral oedema with hyponatraemia and massive polyuria after renal transplantation. Pediatr Nephrol (2009) 1.45
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci U S A (2006) 1.44
A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization. Prenat Diagn (2013) 1.39
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet (2011) 1.38
Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med (2012) 1.33
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV. EMBO J (2008) 1.33
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet (2013) 1.32
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol (2009) 1.29
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet (2007) 1.27
Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol (2008) 1.27
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr (2006) 1.26
The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. Pflugers Arch (2011) 1.23
The epithelial Mg2+ channel transient receptor potential melastatin 6 is regulated by dietary Mg2+ content and estrogens. J Am Soc Nephrol (2006) 1.23
Lack of essential role of NF-kappa B p50, RelA, and cRel subunits in virus-induced type 1 IFN expression. J Immunol (2007) 1.19
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol (2004) 1.18
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol (2010) 1.16
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.16
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol. BMC Pregnancy Childbirth (2014) 1.15
Chloride channel diseases resulting from impaired transepithelial transport or vesicular function. J Clin Invest (2005) 1.13
Residues important for nitrate/proton coupling in plant and mammalian CLC transporters. J Biol Chem (2009) 1.12
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. J Physiol (2011) 1.12
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat (2009) 1.11
Renal intercalated cells are rather energized by a proton than a sodium pump. Proc Natl Acad Sci U S A (2013) 1.09
Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling. J Am Soc Nephrol (2013) 1.09
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. Pigment Cell Res (2004) 1.08
KCNJ10 mutations disrupt function in patients with EAST syndrome. Nephron Physiol (2011) 1.07
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. Mol Genet Metab (2005) 1.07
Atopic eczema could be a cause and not an effect of cow's milk protein allergy. J Pediatr Gastroenterol Nutr (2014) 1.07
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Dis Model Mech (2013) 1.05
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic (2004) 1.04
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J Med Genet (2012) 1.03
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. Gastroenterology (2008) 1.03
Role of the vesicular chloride transporter ClC-3 in neuroendocrine tissue. J Neurosci (2008) 1.02
Genetic basis of cystinosis in Turkish patients: a single-center experience. Pediatr Nephrol (2011) 1.00
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat (2009) 1.00
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. Mol Genet Metab (2008) 0.99
Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine (Baltimore) (2005) 0.99
PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology (2012) 0.99
A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy. J Clin Endocrinol Metab (2004) 0.98
Prognostic and diagnostic value of serum pseudocholinesterase, serum aspartate transaminase, and serum alinine transaminase in malignancies treated by radiotherapy. J Cancer Res Ther (2008) 0.98