Published in Nat Genet on December 01, 1999
A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res (2000) 2.94
Sialic acids in human health and disease. Trends Mol Med (2008) 2.61
The Concise Guide to PHARMACOLOGY 2013/14: transporters. Br J Pharmacol (2013) 2.07
Identification and characterization of a lysosomal transporter for small neutral amino acids. Proc Natl Acad Sci U S A (2001) 1.88
Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J (2001) 1.83
Synapse location during growth depends on glia location. Cell (2013) 1.80
Organic anion transport is the primary function of the SLC17/type I phosphate transporter family. Pflugers Arch (2003) 1.71
Aberrant lysosomal carbohydrate storage accompanies endocytic defects and neurodegeneration in Drosophila benchwarmer. J Cell Biol (2005) 1.52
A case of Salla disease with involvement of the cerebellar white matter. Neuroradiology (2003) 1.38
The Finnish Disease Heritage III: the individual diseases. Hum Genet (2003) 1.36
Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration. Physiol Rev (2014) 1.32
Identification of a vesicular aspartate transporter. Proc Natl Acad Sci U S A (2008) 1.22
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. Am J Hum Genet (2000) 1.19
Gene expression in a Drosophila model of mitochondrial disease. PLoS One (2010) 1.16
Functional characterization of wild-type and mutant human sialin. EMBO J (2004) 1.16
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS. J Inherit Metab Dis (2011) 1.12
Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. Proc Natl Acad Sci U S A (2012) 1.04
Vesicular and plasma membrane transporters for neurotransmitters. Cold Spring Harb Perspect Biol (2012) 1.02
Presynaptic calcium channel localization and calcium-dependent synaptic vesicle exocytosis regulated by the Fuseless protein. J Neurosci (2008) 0.97
Glycosylated synaptomatrix regulation of trans-synaptic signaling. Dev Neurobiol (2012) 0.95
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval. Ann Hum Genet (2007) 0.93
The lysosomal sialic acid transporter sialin is required for normal CNS myelination. J Neurosci (2009) 0.93
Glutamate, aspartate and nucleotide transporters in the SLC17 family form four main phylogenetic clusters: evolution and tissue expression. BMC Genomics (2010) 0.92
Sialic acid metabolism and sialyltransferases: natural functions and applications. Appl Microbiol Biotechnol (2012) 0.91
Molecular physiology and pathophysiology of lysosomal membrane transporters. J Inherit Metab Dis (2008) 0.91
Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. J Med Genet (2005) 0.90
Lysosomal transport disorders. J Inherit Metab Dis (2000) 0.89
Circadian clock-regulated phosphate transporter PHT4;1 plays an important role in Arabidopsis defense. Mol Plant (2011) 0.89
Sialylation in protostomes: a perspective from Drosophila genetics and biochemistry. Glycoconj J (2008) 0.89
Characterization of a protein of the plastid inner envelope having homology to animal inorganic phosphate, chloride and organic-anion transporters. Planta (2003) 0.88
Free sialic acid storage disease without sialuria. Ann Neurol (2009) 0.87
Sialic acid utilization. Adv Nutr (2012) 0.86
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain (2009) 0.86
Are vesicular neurotransmitter transporters potential treatment targets for temporal lobe epilepsy? Front Cell Neurosci (2013) 0.86
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. Neurogenetics (2005) 0.86
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Am J Hum Genet (2001) 0.86
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol (2014) 0.84
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. FASEB J (2008) 0.83
Vesicular uptake and exocytosis of L-aspartate is independent of sialin. FASEB J (2012) 0.82
G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking. Mol Genet Metab (2007) 0.82
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases. Neurology (2010) 0.82
Basal autophagy is required for the efficient catabolism of sialyloligosaccharides. J Biol Chem (2013) 0.82
NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. J Inherit Metab Dis (2004) 0.81
Intracellular localization of p40, a protein identified in a preparation of lysosomal membranes. Biochem J (2006) 0.81
Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes. J Biol Chem (2010) 0.81
Metabolism of vertebrate amino sugars with N-glycolyl groups: incorporation of N-glycolylhexosamines into mammalian glycans by feeding N-glycolylgalactosamine. J Biol Chem (2012) 0.80
An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation. Case Rep Neurol Med (2012) 0.78
RNA-Sequencing for profiling goat milk transcriptome in colostrum and mature milk. BMC Vet Res (2016) 0.77
Motor axon synapses on renshaw cells contain higher levels of aspartate than glutamate. PLoS One (2014) 0.77
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. JIMD Rep (2013) 0.77
A lysosome-centered view of nutrient homeostasis. Autophagy (2016) 0.76
Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Ataxias (2017) 0.75
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease. Orphanet J Rare Dis (2017) 0.75
Cerebellar white matter involvement in Salla disease. Neuroradiology (2004) 0.75
Successful prediction of substrate-binding pocket in SLC17 transporter sialin. J Biol Chem (2012) 0.75
A 13-year follow-up of Finnish patients with Salla disease. J Neurodev Disord (2015) 0.75
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature (1998) 15.24
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell (1998) 9.85
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol Cell (1998) 9.41
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature (1995) 3.78
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet (2000) 3.39
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet (1991) 3.07
A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04
Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J (1994) 2.94
A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res (2000) 2.94
Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res (1995) 2.93
Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res (1997) 2.90
Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med (1990) 2.86
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology (2005) 2.77
Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science (2000) 2.66
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet (2004) 2.54
An MDL method for finding haplotype blocks and for estimating the strength of haplotype block boundaries. Pac Symp Biocomput (2003) 2.45
Predisposition to familial osteoarthrosis linked to type II collagen gene. Lancet (1989) 2.43
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. Proc Natl Acad Sci U S A (1982) 2.39
The three subfamilies of leucine-rich repeat-containing G protein-coupled receptors (LGR): identification of LGR6 and LGR7 and the signaling mechanism for LGR7. Mol Endocrinol (2000) 2.37
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature (1993) 2.36
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry (2009) 2.29
Rapid antibody test for fragile X syndrome. Lancet (1995) 2.22
Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet (1998) 2.21
A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet (1999) 2.15
Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans. Mol Cell Biol (1999) 2.09
Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet (1994) 2.08
Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry (2008) 2.07
Meta-analysis of genome-wide association studies for personality. Mol Psychiatry (2010) 1.96
Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet (2001) 1.95
Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet (2000) 1.93
European experience with prenatal diagnosis of congenital disease: a survey of 6121 cases. Cytogenet Cell Genet (1976) 1.89
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet (1991) 1.89
Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA. Proc Natl Acad Sci U S A (1987) 1.87
High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet (1999) 1.87
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet (2000) 1.87
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet (2001) 1.83
A mouse model for the cystic fibrosis delta F508 mutation. EMBO J (1995) 1.82
Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of aminotic-fluid and maternal serum alpha-fetoprotein. Lancet (1976) 1.82
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics (1992) 1.81
A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat Genet (1996) 1.81
Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet (1992) 1.79
Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet (2000) 1.77
Risk of minor and major fetal malformations in diabetics with high haemoglobin A1c values in early pregnancy. Br Med J (Clin Res Ed) (1984) 1.77
FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. Ann Neurol (1999) 1.75
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases. Cell (1988) 1.73
Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am J Hum Genet (2001) 1.72
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet (1994) 1.68
Differences in DNA-fingerprints between remission and relapse in childhood acute lymphoblastic leukemia. Leuk Res (1988) 1.67
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet (1998) 1.67
Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes. J Dent Res (1996) 1.66
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet (1999) 1.65
Serum complement and familial combined hyperlipidemia. Atherosclerosis (1997) 1.64
HHR23B, a human Rad23 homolog, stimulates XPC protein in nucleotide excision repair in vitro. Mol Cell Biol (1996) 1.63
The cytogenetic effects of mycoplasma in human leukocyte cultures. J Cell Physiol (1967) 1.62
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics (1993) 1.61
Characterization and localization of the Huntington disease gene product. Hum Mol Genet (1993) 1.60
Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry (2007) 1.60
High-throughput microRNAome analysis in human germ cell tumours. J Pathol (2007) 1.60
Chromosome damage associated with the measles virus in vitro. Hereditas (1965) 1.60
Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet (2008) 1.59
Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique. Hum Genet (1997) 1.59
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet (1998) 1.58
Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet (1997) 1.57
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet (2001) 1.57
A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A). Clin Chim Acta (1990) 1.57
Three-dimensional structure of human lysosomal aspartylglucosaminidase. Nat Struct Biol (1995) 1.56
Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine (Phila Pa 1976) (1998) 1.56
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet (2001) 1.54
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet (1994) 1.53
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology (2001) 1.53
Mutational analysis of the human nucleotide excision repair gene ERCC1. Nucleic Acids Res (1996) 1.53
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet (1998) 1.52
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49
FMRP is associated to the ribosomes via RNA. Hum Mol Genet (1996) 1.49
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum Mol Genet (1997) 1.49
Replication of 1q42 linkage in Finnish schizophrenia pedigrees. Mol Psychiatry (2004) 1.49
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry (2008) 1.47
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet (1996) 1.46
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. J Clin Invest (1987) 1.45
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. Mol Psychiatry (2005) 1.44
A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo. J Clin Invest (1996) 1.42
Identification and characterization of XPC-binding domain of hHR23B. Mol Cell Biol (1997) 1.42
Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample. Am J Psychiatry (1999) 1.42
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet (1996) 1.41
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Genomics (1999) 1.40
"Salla disease": a new lysosomal storage disorder. Arch Neurol (1979) 1.40
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. Mol Psychiatry (2006) 1.39
Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann Neurol (1999) 1.39
DNA-binding and strand-annealing activities of human Mre11: implications for its roles in DNA double-strand break repair pathways. Nucleic Acids Res (2001) 1.38
Absence of IgA and growth hormone deficiency associated with short arm deletion of chromosome 18. Arch Dis Child (1973) 1.38