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Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive proteinuria in utero and nephrosis at birth. In this study, the 150 kb criticalExpand
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Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal recessive disorder that is caused by mutations in the recently discovered nephrin gene, NPHS1 (AF035835). The disease, whichExpand
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Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combinationExpand
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Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects.
We have previously reported a linkage peak on 1q42 in a Finnish schizophrenia sample. In this study we genotyped 28 single nucleotide polymorphisms (SNPs) from 1q42 covering the three candidate genesExpand
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MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele, cystic kidney dysplasia, fibrotic changes ofExpand
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Nephrin is specifically located at the slit diaphragm of glomerular podocytes.
We describe here the size and location of nephrin, the first protein to be identified at the glomerular podocyte slit diaphragm. In Western blots, nephrin antibodies generated against the twoExpand
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The mutation spectrum in RECQL4 diseases
Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund–Thomson (RTS), RAPADILINO and Baller–Gerold (BGS), are characterized byExpand
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A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32
Developmental dyslexia is a distinct learning disability with unexpected difficulty in learning to read despite adequate intelligence, education, and environment, and normal senses. The geneticExpand
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Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.
A second distinct family of anion transporters, in addition to the classical SLC4 (or AE) family, has recently been delineated. Members of the SLC26 family are structurally well conserved and canExpand
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Role of nephrin in cell junction formation in human nephrogenesis.
Nephrin is a cell adhesion protein located at the slit diaphragm area of glomerular podocytes. Mutations in nephrin-coding gene (NPHS1) cause congenital nephrotic syndrome (NPHS1). We studied theExpand
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