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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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Mulibrey nanism: clinical features and diagnostic criteria
Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinicalExpand
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Congenital nephrotic syndrome.
Congenital nephrotic syndrome (CNS) can be caused by neonatal infections, renal diseases which exceptionally occur in early infancy and syndromes with a renal histology of DMS. The most common CNS isExpand
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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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Neurodevelopmental outcome in high‐risk patients after renal transplantation in early childhood
Abstract: Patient and graft survival rates of pediatric renal transplant recipients are currently excellent, but there are few reports regarding the long‐term neurodevelopmental outcome after renalExpand
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Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
BACKGROUND Congenital nephrotic syndrome (NPHS1) is a rare disease inherited as an autosomally recessive trait. The NPHS1 gene mutated in NPHS1 children has recently been identified. The gene codesExpand
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Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography.
Nephrin is a key functional component of the slit diaphragm, the structurally unresolved molecular filter in renal glomerular capillaries. Abnormal nephrin or its absence results in severeExpand
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Management of congenital nephrotic syndrome of the Finnish type
Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessively inherited disease characterised by intrauterine onset of massive urinary loss of proteins, 90% of which isExpand
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National centralization of biliary atresia care to an assigned multidisciplinary team provides high-quality outcomes
Abstract Background and aims. Effects of caseload and organization of care on outcomes of biliary atresia (BA) remain unclear. We compared outcomes before and after national centralization of BAExpand
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Factors affecting growth after pediatric liver transplantation.
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