| http://purl.uniprot.org/citations/16147969 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16147969 | http://www.w3.org/2000/01/rdf-schema#comment | "Herlitz junctional epidermolysis bullosa (H-JEB) is a hereditary bullous disease caused by absent expression of laminin-5, a component of anchoring filaments within the dermal-epidermal basement membrane zone. Affected individuals usually die during the first 1 year of life. We studied an infant with H-JEB who presented with nephrotic syndrome, a previously unreported complication that may contribute to early death in this disease. DNA analysis revealed a compound heterozygote for mutations 2379delG and Q995X in the LAMB3 gene. The patient had massive albuminuria, attributable to failure of the glomerular filtration barrier, and high urinary N-acetylglucosaminidase levels, indicating renal tubular involvement. Electron-microscopic examination of the renal tissue revealed diffuse fusion of the foot processes, irregular swelling of the lamina rara interna, and disappearance of endothelial cell fenestrations. Immunohistopathologic analysis of the patient's renal tissue revealed compositional changes in laminin isoforms of the glomerular basement membrane and no detectable laminin-5 in the renal tubular basement membrane, which suggests that laminin-5 may play an important role in renal function. Our findings strongly suggest that H-JEB should be considered in the spectrum of congenital nephrotic syndromes. Combination therapy with meticulous skin care and treatment strategies established for congenital nephrotic syndromes may rescue patients with this disease."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.org/dc/terms/identifier | "doi:10.1542/peds.2005-0160"xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Miyazaki M."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Uitto J."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Miyazaki K."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Tamai K."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Moriyama K."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Nakano A."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Nagata M."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Hata D."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Seto S."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Takasu K."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Muso E."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/author | "Kadota E."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/name | "Pediatrics"xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/pages | "e601-7"xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/title | "Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa."xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://purl.uniprot.org/core/volume | "116"xsd:string |
| http://purl.uniprot.org/citations/16147969 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16147969 |
| http://purl.uniprot.org/citations/16147969 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16147969 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3Z3-mappedCitation-16147969 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16147969 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z3R6-mappedCitation-16147969 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16147969 |
| http://purl.uniprot.org/uniprot/#_B4DL55-mappedCitation-16147969 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16147969 |