SLC26A3 mutations in congenital chloride diarrhea.

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Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. Ann Lab Med (2012) 0.79

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Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9. Hum Mutat (2012) 0.77

Bile acids inhibit Na⁺/H⁺ exchanger and Cl⁻/HCO₃⁻ exchanger activities via cellular energy breakdown and Ca²⁺ overload in human colonic crypts. Pflugers Arch (2015) 0.77

Keratin 8 knockdown leads to loss of the chloride transporter DRA in the colon. Am J Physiol Gastrointest Liver Physiol (2016) 0.76

Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. Am J Case Rep (2012) 0.75

Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis. BMJ Case Rep (2015) 0.75

Identification of intestinal ion transport defects in microvillus inclusion disease. Am J Physiol Gastrointest Liver Physiol (2016) 0.75

Congenital chloride diarrhea in dizygotic twins. Pediatr Gastroenterol Hepatol Nutr (2013) 0.75

Hypoelectrolytemia due to inadequate diet. Pediatr Nephrol (2005) 0.75

Hypochloremic metabolic alkalosis and failure to thrive: answer. Pediatr Nephrol (2010) 0.75

CDX2 upregulates SLC26A3 gene expression in intestinal epithelial cells. Am J Physiol Gastrointest Liver Physiol (2017) 0.75

Pathogen-induced secretory diarrhea and its prevention. Eur J Clin Microbiol Infect Dis (2016) 0.75

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48

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Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in rheumatoid arthritis. Nat Biotechnol (2013) 5.89

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Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet (2005) 4.80

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet (2007) 4.76

A recurrent mutation in PALB2 in Finnish cancer families. Nature (2007) 4.64

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13

Characterization of a common susceptibility locus for asthma-related traits. Science (2004) 4.05

MMP12, lung function, and COPD in high-risk populations. N Engl J Med (2009) 3.96

Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One (2008) 3.09

Human chromosome 7: DNA sequence and biology. Science (2003) 3.02

Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. J Rheumatol (2009) 2.39

MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet (2005) 2.32

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet (2006) 2.14

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS Genet (2005) 2.02

Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet (2005) 1.94

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proc Natl Acad Sci U S A (2003) 1.93

Neurodevelopmental outcome in high-risk patients after renal transplantation in early childhood. Pediatr Transplant (2002) 1.87

Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin. Transplantation (2002) 1.83

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82

Haplotypes of G protein-coupled receptor 154 are associated with childhood allergy and asthma. Am J Respir Crit Care Med (2005) 1.78

A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. Cancer Res (2009) 1.77

Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosis. J Invest Dermatol (2003) 1.68

Pharmacokinetics and pharmacodynamics of pravastatin in pediatric and adolescent cardiac transplant recipients on a regimen of triple immunosuppression. Clin Pharmacol Ther (2004) 1.68

Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int (2004) 1.64

Timing of infant feeding in relation to childhood asthma and allergic diseases. J Allergy Clin Immunol (2012) 1.62

Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62

Long-term risk of end stage renal disease in patients with posterior urethral valves. J Urol (2011) 1.57

Transcriptome profiling of human pre-implantation development. PLoS One (2009) 1.51

Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem (2002) 1.50

Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity. J Biol Chem (2004) 1.50

Molecular networks of DYX1C1 gene show connection to neuronal migration genes and cytoskeletal proteins. Biol Psychiatry (2012) 1.50

Influence of the COMT genotype on working memory and brain activity changes during development. Biol Psychiatry (2011) 1.50

Down-regulated in adenoma mediates apical Cl-/HCO3- exchange in rabbit, rat, and human duodenum. Gastroenterology (2002) 1.47

Large-scale zygosity testing using single nucleotide polymorphisms. Twin Res Hum Genet (2007) 1.45

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet (2002) 1.42

Cholesterol absorption and synthesis in pediatric kidney, liver, and heart transplant recipients. Transplantation (2006) 1.41

Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease. Environ Health Perspect (2008) 1.40

The zebrafish transcriptome during early development. BMC Dev Biol (2011) 1.39

LifeGene--a large prospective population-based study of global relevance. Eur J Epidemiol (2010) 1.38

Headache in children and adolescents after organ transplantation. Pediatr Transplant (2008) 1.38

Late hepatic artery thrombosis after pediatric liver transplantation: a cross-sectional study of 34 patients. Liver Transpl (2014) 1.38

Low HDL-C predicts the onset of transplant vasculopathy in pediatric cardiac recipients on pravastatin therapy. Pediatr Transplant (2007) 1.38

Long-term clinical outcome in patients with congenital chloride diarrhea. J Pediatr Gastroenterol Nutr (2006) 1.35

Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes (2003) 1.33

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet (2007) 1.32

Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains. Am J Physiol Cell Physiol (2002) 1.29

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med (2005) 1.25

Expression analysis of the NLRP gene family suggests a role in human preimplantation development. PLoS One (2008) 1.25

Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease. Gastroenterology (2007) 1.24

Podocytes are firmly attached to glomerular basement membrane in kidneys with heavy proteinuria. J Am Soc Nephrol (2004) 1.23

Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. Mol Vis (2007) 1.23

Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons. PLoS One (2011) 1.22

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. J Med Genet (2009) 1.21

Susceptibility loci for preeclampsia on chromosomes 2p25 and 9p13 in Finnish families. Am J Hum Genet (2002) 1.21

Genome wide association study identifies KCNMA1 contributing to human obesity. BMC Med Genomics (2011) 1.18

Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure. Biol Psychiatry (2012) 1.17

The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus. J Med Genet (2007) 1.16

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet (2009) 1.15

Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases. Hum Mol Genet (2008) 1.14

Research resource: interactome of human embryo implantation: identification of gene expression pathways, regulation, and integrated regulatory networks. Mol Endocrinol (2011) 1.12

Drug repositioning: a machine-learning approach through data integration. J Cheminform (2013) 1.11

Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations. Eur J Hum Genet (2012) 1.09

Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes. J Allergy Clin Immunol (2005) 1.08

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol (2013) 1.07

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia. FASEB J (2008) 1.06

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease. BMC Med Genet (2009) 1.06

PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease. Inflamm Bowel Dis (2009) 1.06

Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet (2002) 1.06

Further evidence for DYX1C1 as a susceptibility factor for dyslexia. Psychiatr Genet (2009) 1.06

The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects. Diabetes (2005) 1.06

Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease. Arthritis Rheum (2005) 1.05

ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis. Am J Hum Genet (2006) 1.05

Genome-wide association scan identifies a risk locus for preeclampsia on 2q14, near the inhibin, beta B gene. PLoS One (2012) 1.05

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. Mol Immunol (2008) 1.05

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. Hum Mol Genet (2009) 1.04

Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus. Exp Dermatol (2009) 1.03

Update on SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat (2011) 1.03

Transcriptome analysis reveals upregulation of bitter taste receptors in severe asthmatics. Eur Respir J (2012) 1.03

Variation in DNA repair genes ERCC2, XRCC1, and XRCC3 and risk of follicular lymphoma. Cancer Epidemiol Biomarkers Prev (2006) 1.03

Kidneys with heavy proteinuria show fibrosis, inflammation, and oxidative stress, but no tubular phenotypic change. Kidney Int (2005) 1.03

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs. BMC Genet (2008) 1.02

Neuropeptide S and G protein-coupled receptor 154 modulate macrophage immune responses. Hum Mol Genet (2006) 1.02

A genome-wide association scan on estrogen receptor-negative breast cancer. Breast Cancer Res (2010) 1.02

Liver X receptor gene polymorphisms and adipose tissue expression levels in obesity. Pharmacogenet Genomics (2006) 1.01

SLC26A7: a basolateral Cl-/HCO3- exchanger specific to intercalated cells of the outer medullary collecting duct. Am J Physiol Renal Physiol (2003) 1.01

Identification of a basolateral Cl-/HCO3- exchanger specific to gastric parietal cells. Am J Physiol Gastrointest Liver Physiol (2003) 1.01

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J Clin Endocrinol Metab (2008) 1.01

Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample. Psychiatr Genet (2008) 1.00

Cl- is required for HCO3- entry necessary for sperm capacitation in guinea pig: involvement of a Cl-/HCO3- exchanger (SLC26A3) and CFTR. Biol Reprod (2008) 1.00

A novel low-penetrance locus for familial glioma at 15q23-q26.3. Cancer Res (2002) 0.99

Assessment of the neuropeptide S system in anxiety disorders. Biol Psychiatry (2010) 0.99

Pharmacogenetics of cyclosporine in children suggests an age-dependent influence of ABCB1 polymorphisms. Pharmacogenet Genomics (2008) 0.99

CCHCR1 is up-regulated in skin cancer and associated with EGFR expression. PLoS One (2009) 0.99

Blood group AB and factor V Leiden as risk factors for pre-eclampsia: a population-based nested case-control study. Thromb Res (2008) 0.99

Acute bacterial, nonnecrotizing cellulitis in Finland: microbiological findings. Clin Infect Dis (2008) 0.98