Published in Histochem Cell Biol on April 01, 2000
Gating of CFTR by the STAS domain of SLC26 transporters. Nat Cell Biol (2004) 3.43
Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes. J Physiol (2003) 1.59
The Finnish Disease Heritage III: the individual diseases. Hum Genet (2003) 1.36
Diverse transport modes by the solute carrier 26 family of anion transporters. J Physiol (2008) 1.35
Intestinal transport of an obdurate anion: oxalate. Urol Res (2004) 1.20
Slc26a9--anion exchanger, channel and Na+ transporter. J Membr Biol (2009) 1.19
The roles and mechanisms of intestinal oxalate transport in oxalate homeostasis. Semin Nephrol (2008) 1.05
Impaired mucin synthesis and bicarbonate secretion in the colon of NHE8 knockout mice. Am J Physiol Gastrointest Liver Physiol (2012) 0.93
NHE8 plays important roles in gastric mucosal protection. Am J Physiol Gastrointest Liver Physiol (2012) 0.86
Mechanisms Underlying Dysregulation of Electrolyte Absorption in Inflammatory Bowel Disease-Associated Diarrhea. Inflamm Bowel Dis (2015) 0.82
Loss of NHE8 expression impairs ocular surface function in mice. Am J Physiol Cell Physiol (2014) 0.80
The role of intestinal oxalate transport in hyperoxaluria and the formation of kidney stones in animals and man. Urolithiasis (2016) 0.76
Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis. BMJ Case Rep (2015) 0.75
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell (1998) 9.85
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet (2000) 5.65
Empty MHC class I molecules come out in the cold. Nature (1990) 5.53
Microsatellite diversity and the demographic history of modern humans. Proc Natl Acad Sci U S A (1997) 4.96
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90
Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A (1999) 3.77
Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) regulates the unfolding of autoimmune diabetes. J Exp Med (1998) 3.70
Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Proc Natl Acad Sci U S A (1991) 3.66
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70
Early cholecystectomy for acute cholecystitis: a prospective randomized study. Ann Surg (1980) 2.32
Health-related quality of life of adults surviving malignancies in childhood. Eur J Cancer (1996) 2.27
Allorecognition by NK cells: nonself or no self? Immunol Today (1992) 2.21
Prevention of allogeneic bone marrow graft rejection by H-2 transgene in donor mice. Science (1989) 2.08
X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res (1997) 2.06
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest (2000) 1.97
Ectopic liver. Ann Chir Gynaecol (1978) 1.95
Matrix metalloproteinases in skin. Exp Dermatol (1997) 1.84
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82
Data mining applied to linkage disequilibrium mapping. Am J Hum Genet (2000) 1.78
The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci U S A (1997) 1.77
Enhanced expression of matrilysin, collagenase, and stromelysin-1 in gastrointestinal ulcers. Am J Pathol (1996) 1.72
Matrix metalloproteinases and their inhibitors in tumour growth and invasion. Ann Med (1999) 1.71
Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol (1999) 1.68
Expression of collagenase-3 (matrix metalloproteinase-13) in squamous cell carcinomas of the head and neck. Am J Pathol (1997) 1.66
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int (2000) 1.65
Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics (2000) 1.57
The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol (1992) 1.55
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet (1999) 1.55
Matrix metalloproteinases in tumor progression: focus on basal and squamous cell skin cancer. Exp Dermatol (2003) 1.50
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J Physiol (1999) 1.47
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
Patterns of matrix metalloproteinase and TIMP-1 expression in chronic and normally healing human cutaneous wounds. Br J Dermatol (1996) 1.44
Collagenase-3 (MMP-13) is expressed by hypertrophic chondrocytes, periosteal cells, and osteoblasts during human fetal bone development. Dev Dyn (1997) 1.44
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet (1996) 1.44
DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience (2006) 1.42
Fine-needle aspiration biopsy allows early detection of acute rejection in children after renal transplantation. Transplantation (2001) 1.39
Phenylketonuria screening registry as a resource for population genetic studies. J Med Genet (2005) 1.38
Distinct expression profiles of stromelysin-2 (MMP-10), collagenase-3 (MMP-13), macrophage metalloelastase (MMP-12), and tissue inhibitor of metalloproteinases-3 (TIMP-3) in intestinal ulcerations. Am J Pathol (1998) 1.38
Natural killer cell tolerance in mice with mosaic expression of major histocompatibility complex class I transgene. J Exp Med (1997) 1.38
Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. Arch Dis Child (1977) 1.37
A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat Genet (2001) 1.36
A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32. J Med Genet (2003) 1.35
Infusion thrombophlebitis and its prevention. Am Heart J (1967) 1.35
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett (1990) 1.35
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet (1992) 1.35
A dominant gene for developmental dyslexia on chromosome 3. J Med Genet (2001) 1.33
Endothelial ICAM-1 expression associated with inflammatory cell response in human ischemic stroke. Circulation (1996) 1.30
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet (1993) 1.30
Transforming growth factor-beta induces collagenase-3 expression by human gingival fibroblasts via p38 mitogen-activated protein kinase. J Biol Chem (1999) 1.30
Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet (1999) 1.29
The CD8+ T cell repertoire in beta 2-microglobulin-deficient mice is biased towards reactivity against self-major histocompatibility class I. J Exp Med (1994) 1.29
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat (1998) 1.28
Major histocompatibility complex class I-specific and -restricted killing of beta 2-microglobulin-deficient cells by CD8+ cytotoxic T lymphocytes. Proc Natl Acad Sci U S A (1992) 1.28
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci U S A (1991) 1.27
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes (1999) 1.27
Evolution of cerebral tumor necrosis factor-alpha production during human ischemic stroke. Stroke (2001) 1.27
Differential expression of matrilysin-1 (MMP-7), 92 kD gelatinase (MMP-9), and metalloelastase (MMP-12) in oral verrucous and squamous cell cancer. J Pathol (2004) 1.27
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet (2000) 1.27
Distinct populations of stromal cells express collagenase-3 (MMP-13) and collagenase-1 (MMP-1) in chronic ulcers but not in normally healing wounds. J Invest Dermatol (1997) 1.26
Health-related quality of life after organ transplantation in childhood. Pediatr Transplant (1997) 1.26
Stereospecific determination, chiral inversion in vitro and pharmacokinetics in humans of the enantiomers of thalidomide. Chirality (1995) 1.25
Elimination of S100B and renal function after cardiac surgery. J Cardiothorac Vasc Anesth (2000) 1.24
Gene mapping in isolated populations: new roles for old friends? Hum Hered (2000) 1.23
Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28. Genomics (1991) 1.21
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet (2000) 1.20
Role of nephrin in cell junction formation in human nephrogenesis. Am J Pathol (2000) 1.19
Global analysis of uniparental disomy using high density genotyping arrays. J Med Genet (2005) 1.18
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet (1998) 1.18
Acquisition of external major histocompatibility complex class I molecules by natural killer cells expressing inhibitory Ly49 receptors. J Exp Med (2001) 1.18
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. Am J Hum Genet (1998) 1.17
Incidence of malignancy in patients treated for antineutrophil cytoplasm antibody-associated vasculitis: follow-up data from European Vasculitis Study Group clinical trials. Ann Rheum Dis (2011) 1.16
Monosomy 7 in granulocytes and monocytes in myelodysplastic syndrome. N Engl J Med (1987) 1.14
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet (2001) 1.14
Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF. Dev Biol (1999) 1.14
Cyclooxygenase-2 is induced globally in infarcted human brain. Ann Neurol (1998) 1.13
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum Mol Genet (2001) 1.13
Stereoselective interaction of omeprazole with warfarin in healthy men. Ther Drug Monit (1989) 1.13
Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H. Am J Transplant (2007) 1.12