Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71

Potassium channel KIR4.1 as an immune target in multiple sclerosis. N Engl J Med (2012) 2.90

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol (2011) 1.70

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

How is the highly positive endocochlear potential formed? The specific architecture of the stria vascularis and the roles of the ion-transport apparatus. Pflugers Arch (2009) 1.51

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. J Am Soc Nephrol (2017) 1.44

Small-molecule modulators of inward rectifier K+ channels: recent advances and future possibilities. Future Med Chem (2010) 1.35

In vivo clonal analysis reveals lineage-restricted progenitor characteristics in mammalian kidney development, maintenance, and regeneration. Cell Rep (2014) 1.32

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31

Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats. Trends Genet (2009) 1.25

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. Pflugers Arch (2011) 1.23

Potassium ion movement in the inner ear: insights from genetic disease and mouse models. Physiology (Bethesda) (2009) 1.18

Molecular basis of epithelial Ca2+ and Mg2+ transport: insights from the TRP channel family. J Physiol (2010) 1.18

Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). J Biol Chem (2010) 1.17

Regulation of transport in the connecting tubule and cortical collecting duct. Compr Physiol (2012) 1.16

Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol (2012) 1.14

KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1). Proc Natl Acad Sci U S A (2014) 1.13

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. J Physiol (2011) 1.12

A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med (2014) 1.12

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci (2010) 1.10

Blood-brain barrier dysfunction, TGFβ signaling, and astrocyte dysfunction in epilepsy. Glia (2012) 1.06

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Dis Model Mech (2013) 1.05

Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome. Proc Natl Acad Sci U S A (2011) 1.04

Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome. J Am Soc Nephrol (2010) 1.01

Distal convoluted tubule. Clin J Am Soc Nephrol (2014) 1.00

Calcium-sensing receptor decreases cell surface expression of the inwardly rectifying K+ channel Kir4.1. J Biol Chem (2010) 0.99

Regulation of magnesium balance: lessons learned from human genetic disease. Clin Kidney J (2012) 0.99

Variable loss of Kir4.1 channel function in SeSAME syndrome mutations. Biochem Biophys Res Commun (2010) 0.99

Basolateral membrane K+ channels in renal epithelial cells. Am J Physiol Renal Physiol (2012) 0.98

Hypomagnesemia: a clinical perspective. Int J Nephrol Renovasc Dis (2014) 0.97

Major channels involved in neuropsychiatric disorders and therapeutic perspectives. Front Genet (2013) 0.97

Channelopathy pathogenesis in autism spectrum disorders. Front Genet (2013) 0.97

Potassium channel activity and glutamate uptake are impaired in astrocytes of seizure-susceptible DBA/2 mice. Epilepsia (2010) 0.96

Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review. Mol Genet Metab (2011) 0.95

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy. Front Cell Neurosci (2013) 0.94

The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss. Neuroscience (2014) 0.94

Novel diuretic targets. Am J Physiol Renal Physiol (2013) 0.93

Genetic testing in renal disease. Pediatr Nephrol (2011) 0.93

Molecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels. Physiol Rev (2015) 0.92

Loss of perivascular Kir4.1 potassium channels in the sclerotic hippocampus of patients with mesial temporal lobe epilepsy. J Neuropathol Exp Neurol (2012) 0.92

Polyamine transport by the polyspecific organic cation transporters OCT1, OCT2, and OCT3. Mol Pharm (2013) 0.92

Direct inhibition of basolateral Kir4.1/5.1 and Kir4.1 channels in the cortical collecting duct by dopamine. Am J Physiol Renal Physiol (2013) 0.91

Unidirectional photoreceptor-to-Müller glia coupling and unique K+ channel expression in Caiman retina. PLoS One (2014) 0.91

New Insights on Astrocyte Ion Channels: Critical for Homeostasis and Neuron-Glia Signaling. J Neurosci (2015) 0.89

Kir4.1 K+ channels are regulated by external cations. Channels (Austin) (2011) 0.88

Random mutagenesis screening indicates the absence of a separate H(+)-sensor in the pH-sensitive Kir channels. Channels (Austin) (2010) 0.88

Disorders of calcium and magnesium balance: a physiology-based approach. Pediatr Nephrol (2012) 0.87

Caveolin-1 Deficiency Inhibits the Basolateral K+ Channels in the Distal Convoluted Tubule and Impairs Renal K+ and Mg2+ Transport. J Am Soc Nephrol (2015) 0.87

Inwardly rectifying potassium channel Kir4.1 is responsible for the native inward potassium conductance of satellite glial cells in sensory ganglia. Neuroscience (2010) 0.87

DNA methylation functions as a critical regulator of Kir4.1 expression during CNS development. Glia (2014) 0.87

KCNJ10 (Kir4.1) is expressed in the basolateral membrane of the cortical thick ascending limb. Am J Physiol Renal Physiol (2015) 0.86

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule. Pediatr Nephrol (2012) 0.86

Development and validation of fluorescence-based and automated patch clamp-based functional assays for the inward rectifier potassium channel Kir4.1. Assay Drug Dev Technol (2013) 0.86

Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery. Front Pharmacol (2016) 0.86

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings. PLoS One (2013) 0.86

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC Med Genet (2013) 0.85

The use of whole-exome sequencing to disentangle complex phenotypes. Eur J Hum Genet (2015) 0.85

Potassium Channels and Human Epileptic Phenotypes: An Updated Overview. Front Cell Neurosci (2016) 0.85

A practical approach to genetic hypokalemia. Electrolyte Blood Press (2010) 0.84

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

Peripherally restricted acute phase response to a viral mimic alters hippocampal gene expression. Metab Brain Dis (2013) 0.83

Novel astrocyte targets: new avenues for the therapeutic treatment of epilepsy. Neuroscientist (2014) 0.83

STAG3 truncating variant as the cause of primary ovarian insufficiency. Eur J Hum Genet (2015) 0.83

Decomposition of slide helix contributions to ATP-dependent inhibition of Kir6.2 channels. J Biol Chem (2013) 0.83

Differential expression of the Kv1 voltage-gated potassium channel family in the rat nephron. J Mol Histol (2014) 0.82

Primary molecular disorders and secondary biological adaptations in bartter syndrome. Int J Nephrol (2011) 0.82

Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder. Front Cell Neurosci (2015) 0.82

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. Mol Genet Genomic Med (2016) 0.82

Genetic deletion of laminin isoforms β2 and γ3 induces a reduction in Kir4.1 and aquaporin-4 expression and function in the retina. PLoS One (2011) 0.82

The role of astroglia in the epileptic brain. Front Pharmacol (2012) 0.81

Cardiac and renal inward rectifier potassium channel pharmacology: emerging tools for integrative physiology and therapeutics. Curr Opin Pharmacol (2013) 0.81

The EAST syndrome and KCNJ10 mutations. N Engl J Med (2009) 0.81

Kcnj10 is a major type of K+ channel in mouse corneal epithelial cells and plays a role in initiating EGFR signaling. Am J Physiol Cell Physiol (2014) 0.81

Mapping a mouse limbic seizure susceptibility locus on chromosome 10. Epilepsia (2011) 0.81

Role of astrocytes in epilepsy. Cold Spring Harb Perspect Med (2015) 0.81

Tissue-specific expression and in vivo regulation of zebrafish orthologues of mammalian genes related to symptomatic hypomagnesemia. Pflugers Arch (2013) 0.81

Insulin and IGF-1 activate Kir4.1/5.1 channels in cortical collecting duct principal cells to control basolateral membrane voltage. Am J Physiol Renal Physiol (2015) 0.80

Translational potential of astrocytes in brain disorders. Prog Neurobiol (2015) 0.80

Vasopressin-induced stimulation of the Na(+)-activated K(+) channels is responsible for maintaining the basolateral K(+) conductance of the thick ascending limb (TAL) in EAST/SeSAME syndrome. Biochim Biophys Acta (2015) 0.80

Disruption of KCNJ10 (Kir4.1) stimulates the expression of ENaC in the collecting duct. Am J Physiol Renal Physiol (2016) 0.80

The role of glia in stress: polyamines and brain disorders. Psychiatr Clin North Am (2014) 0.80

Gestational and early postnatal hypothyroidism alters VGluT1 and VGAT bouton distribution in the neocortex and hippocampus, and behavior in rats. Front Neuroanat (2015) 0.80

Quantitative trait locus on distal chromosome 1 regulates the occurrence of spontaneous spike-wave discharges in DBA/2 mice. Epilepsia (2012) 0.80

Expressional analysis of the astrocytic Kir4.1 channel in a pilocarpine-induced temporal lobe epilepsy model. Front Cell Neurosci (2013) 0.79

Ion channels in renal disease. Chem Rev (2012) 0.79

Membrane physiology--bridging the gap between medical disciplines. N Engl J Med (2009) 0.79

New perspective of ClC-Kb/2 Cl- channel physiology in the distal renal tubule. Am J Physiol Renal Physiol (2016) 0.79

Regulation of Kir4.1 expression in astrocytes and astrocytic tumors: a role for interleukin-1 β. J Neuroinflammation (2012) 0.79

A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis. Genes Brain Behav (2014) 0.79

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. Eur J Hum Genet (2017) 0.79

Polyamine block of inwardly rectifying potassium channels. Methods Mol Biol (2011) 0.78

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

Inward-rectifying potassium channelopathies: new insights into disorders of sodium and potassium homeostasis. Pediatr Nephrol (2014) 0.77

Elevated GFAP induces astrocyte dysfunction in caudal brain regions: A potential mechanism for hindbrain involved symptoms in type II Alexander disease. Glia (2015) 0.77

Novel KCNJ10 Gene Variations Compromise Function of Inwardly Rectifying Potassium Channel 4.1. J Biol Chem (2016) 0.77

Neuronal and Cardiovascular Potassium Channels as Therapeutic Drug Targets: Promise and Pitfalls. J Biomol Screen (2015) 0.77

Saccharomyces cerivisiae as a model system for kidney disease: what can yeast tell us about renal function? Am J Physiol Renal Physiol (2011) 0.77

Role of renal TRP channels in physiology and pathology. Semin Immunopathol (2015) 0.77

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16

The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science (1998) 39.86

PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet (1998) 23.25

The nature of the frog skin potential. Acta Physiol Scand (1958) 11.46

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet (1996) 5.95

Detection and integration of genotyping errors in statistical genetics. Am J Hum Genet (2002) 4.89

HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics (2004) 4.00

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet (1996) 3.84

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet (1996) 3.71

The physiology of neuroglial cells. Ergeb Physiol (1966) 3.61

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet (1997) 3.51

ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics (2005) 2.90

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet (2001) 2.87

The thiazide-sensitive Na-Cl cotransporter is an aldosterone-induced protein. Proc Natl Acad Sci U S A (1998) 2.79

A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens (2003) 2.76

Genome-wide linkage analysis of systolic and diastolic blood pressure: the Québec Family Study. Circulation (2000) 2.75

Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med (2004) 2.57

Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics (2005) 2.53

Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation. J Neurosci (2007) 2.44

Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination. J Neurosci (2001) 2.23

KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. Am J Physiol Cell Physiol (2002) 2.08

Vasopressin increases Na-K-2Cl cotransporter expression in thick ascending limb of Henle's loop. Am J Physiol (1999) 2.01

Determinants of anion-proton coupling in mammalian endosomal CLC proteins. J Biol Chem (2007) 1.98

Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome. J Am Soc Nephrol (2004) 1.84

Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol (2006) 1.78

A panoramic view of gene expression in the human kidney. Proc Natl Acad Sci U S A (2003) 1.72

An inward rectifier K(+) channel at the basolateral membrane of the mouse distal convoluted tubule: similarities with Kir4-Kir5.1 heteromeric channels. J Physiol (2002) 1.71

Genome scans for blood pressure and hypertension: the National Heart, Lung, and Blood Institute Family Heart Study. Hypertension (2002) 1.66

Functional significance of channels and transporters expressed in the inner ear and kidney. Am J Physiol Cell Physiol (2007) 1.57

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet (2004) 1.45

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. Epilepsy Res (2004) 1.42

Role of KCNE1-dependent K+ fluxes in mouse proximal tubule. J Am Soc Nephrol (2001) 1.38

ATP is a coupling modulator of parallel Na,K-ATPase-K-channel activity in the renal proximal tubule. Proc Natl Acad Sci U S A (1992) 1.35

Basolateral K conductance: role in regulation of NaCl absorption and secretion. Am J Physiol (1990) 1.30

New treatment options for Bartter's syndrome. N Engl J Med (2000) 1.28

Development of a test to evaluate the transtubular potassium concentration gradient in the cortical collecting duct in vivo. Miner Electrolyte Metab (1986) 1.10

Rescue of the mineralocorticoid receptor knock-out mouse. Pflugers Arch (1999) 1.10

Mapping the genetic determinants of hypertension, metabolic diseases, and related phenotypes in the lyon hypertensive rat. Hypertension (2004) 1.09

PDZ binding motif-dependent localization of K+ channel on the basolateral side in distal tubules. Am J Physiol Renal Physiol (2004) 1.06

K+ channel currents in basolateral membrane of distal convoluted tubule of rabbit kidney. Am J Physiol (1989) 0.92

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia (2010) 18.28

Identification and proteomic profiling of exosomes in human urine. Proc Natl Acad Sci U S A (2004) 8.74

NT5E mutations and arterial calcifications. N Engl J Med (2011) 8.71

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med (2004) 7.91

ILAE official report: a practical clinical definition of epilepsy. Epilepsia (2014) 7.12

Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med (2011) 6.34

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29

The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia (2010) 6.23

Molecular structure and physiological function of chloride channels. Physiol Rev (2002) 6.09

Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34

Natural history of alkaptonuria. N Engl J Med (2002) 5.32

Aquaporins in the kidney: from molecules to medicine. Physiol Rev (2002) 5.14

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70

Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell (2009) 4.50

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet (2010) 3.63

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature (2005) 3.60

The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial. Lancet Neurol (2008) 3.51

Quantitative phosphoproteomics of vasopressin-sensitive renal cells: regulation of aquaporin-2 phosphorylation at two sites. Proc Natl Acad Sci U S A (2006) 3.26

Large-scale proteomics and phosphoproteomics of urinary exosomes. J Am Soc Nephrol (2008) 3.22

Management of high blood pressure in children and adolescents: recommendations of the European Society of Hypertension. J Hypertens (2009) 3.13

Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet (2013) 2.83

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83

Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med (2014) 2.77

Discovery of urinary biomarkers. Mol Cell Proteomics (2006) 2.70

Urinary concentrating defect in mice with selective deletion of phloretin-sensitive urea transporters in the renal collecting duct. Proc Natl Acad Sci U S A (2004) 2.68

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet (2004) 2.65

Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab (2011) 2.65

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk. Nat Genet (2010) 2.47

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology (2012) 2.33

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet (2009) 2.32

Clinical outcomes and genome-wide association for a brain methylation site in an antidepressant pharmacogenetics study in Mexican Americans. Am J Psychiatry (2014) 2.26

Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25

Language reorganization in children with early-onset lesions of the left hemisphere: an fMRI study. Brain (2004) 2.22

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain (2010) 2.21

Antiphospholipase A2 receptor antibody titer and subclass in idiopathic membranous nephropathy. J Am Soc Nephrol (2012) 2.21

Vasopressin-stimulated increase in phosphorylation at Ser269 potentiates plasma membrane retention of aquaporin-2. J Biol Chem (2008) 2.21

Molecular physiology of water balance. N Engl J Med (2015) 2.20

A global disorder of imprinting in the human female germ line. Nature (2002) 2.19

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet (2010) 2.08

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet (2010) 2.08

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest (2007) 2.04

Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr (2004) 2.02

Urea and renal function in the 21st century: insights from knockout mice. J Am Soc Nephrol (2007) 2.01

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet (2012) 1.99

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab (2011) 1.98

Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models. Annu Rev Physiol (2005) 1.98

Dynamics of aquaporin-2 serine-261 phosphorylation in response to short-term vasopressin treatment in collecting duct. Am J Physiol Renal Physiol (2006) 1.96

Expression and function of epithelial anoctamins. J Biol Chem (2010) 1.95

T (brachyury) gene duplication confers major susceptibility to familial chordoma. Nat Genet (2009) 1.95

Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy. J Am Soc Nephrol (2013) 1.94

Expression and localisation of aquaporin water channels in human urothelium in situ and in vitro. Eur Urol (2008) 1.92

Early interstitial lung disease in familial pulmonary fibrosis. Am J Respir Crit Care Med (2007) 1.91

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol (2013) 1.90

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90

Severe hypertension in children and adolescents: pathophysiology and treatment. Pediatr Nephrol (2008) 1.90

Febrile urinary tract infections in children. N Engl J Med (2011) 1.86

Antidiuretic effect of hydrochlorothiazide in lithium-induced nephrogenic diabetes insipidus is associated with upregulation of aquaporin-2, Na-Cl co-transporter, and epithelial sodium channel. J Am Soc Nephrol (2004) 1.86

Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol (2009) 1.86

Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat (2010) 1.83

Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol (2011) 1.82

International consensus classification of hippocampal sclerosis in temporal lobe epilepsy: a Task Force report from the ILAE Commission on Diagnostic Methods. Epilepsia (2013) 1.82

Long-term regulation of ENaC expression in kidney by angiotensin II. Hypertension (2003) 1.82

Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med (2007) 1.81

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol (2012) 1.80

Quantitative phosphoproteomic analysis reveals vasopressin V2-receptor-dependent signaling pathways in renal collecting duct cells. Proc Natl Acad Sci U S A (2010) 1.78

Prospects for urinary proteomics: exosomes as a source of urinary biomarkers. Nephrology (Carlton) (2005) 1.77

Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76

Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas. Hypertension (2013) 1.76

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proc Natl Acad Sci U S A (2012) 1.74

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest (2013) 1.74

Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol (2009) 1.73

Cardiovascular GO annotation initiative year 1 report: why cardiovascular GO? Proteomics (2008) 1.72

Rapid isolation of urinary exosomal biomarkers using a nanomembrane ultrafiltration concentrator. Am J Physiol Renal Physiol (2007) 1.72

Transcriptional profiling of native inner medullary collecting duct cells from rat kidney. Physiol Genomics (2007) 1.71

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet (2009) 1.71

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet (2011) 1.71

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered (2009) 1.71

B lymphocyte depletion therapy in children with refractory systemic lupus erythematosus. Arthritis Rheum (2005) 1.71

Use of nitisinone in patients with alkaptonuria. Metabolism (2005) 1.70

Large scale protein identification in intracellular aquaporin-2 vesicles from renal inner medullary collecting duct. Mol Cell Proteomics (2005) 1.70

Identifying protein kinase target preferences using mass spectrometry. Am J Physiol Cell Physiol (2012) 1.70

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet (2003) 1.69

Renal angiography in children with polyarteritis nodosa. Pediatr Nephrol (2002) 1.68