Author pages are created from data sourced from our academic publisher partnerships and public sources.
Nephrin is specifically located at the slit diaphragm of glomerular podocytes.
- V. Ruotsalainen, P. Ljungberg, +5 authors K. Tryggvason
- Biology, Medicine
- Proceedings of the National Academy of Sciences…
- 6 July 1999
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 two… Expand
Mulibrey nanism: clinical features and diagnostic criteria
- N. Karlberg, H. Jalanko, J. Perheentupa, M. Lipsanen-Nyman
- Journal of Medical Genetics
- 1 February 2004
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 clinical… Expand
Congenital nephrotic syndrome.
- C. Holmberg, J. Laine, K. Rönnholm, M. Ala-Houhala, H. Jalanko
- Kidney international. Supplement
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 is… Expand
Role of nephrin in cell junction formation in human nephrogenesis.
- V. Ruotsalainen, J. Patrakka, +9 authors H. Jalanko
- Biology, Medicine
- The American journal of pathology
- 1 December 2000
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 the… Expand
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 renal… Expand
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 codes… Expand
Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography.
- J. Wartiovaara, L. Ofverstedt, +8 authors K. Tryggvason
- Chemistry, Medicine
- The Journal of clinical investigation
- 15 November 2004
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 severe… Expand
Management of congenital nephrotic syndrome of the Finnish type
- C. Holmberg, M. Antikainen, K. Rönnholm, M. Ala-Houhala, H. Jalanko
- Pediatric Nephrology
- 1 February 1995
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 is… Expand
National centralization of biliary atresia care to an assigned multidisciplinary team provides high-quality outcomes
- H. Lampela, A. Ritvanen, +4 authors M. Pakarinen
- Scandinavian journal of gastroenterology
- 1 January 2012
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 BA… Expand