Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
dc.contributor.author | Fröhlich, Christian | en_US |
dc.contributor.author | Hildebrandt, Friedhelm | en_US |
dc.contributor.author | Omran, Heymut | en_US |
dc.contributor.author | Fliegauf, Manfred | en_US |
dc.contributor.author | Horvath, Judit | en_US |
dc.contributor.author | Olbrich, Heike | en_US |
dc.date.accessioned | 2006-09-08T20:12:09Z | |
dc.date.available | 2006-09-08T20:12:09Z | |
dc.date.issued | 2003-06 | en_US |
dc.identifier.citation | Fliegauf, Manfred; Fröhlich, Christian; Horvath, Judit; Olbrich, Heike; Hildebrandt, Friedhelm; Omran, Heymut; (2003). "Identification of the human CYS1 gene and candidate gene analysis in Boichis disease." Pediatric Nephrology 18(6): 498-505. <http://hdl.handle.net/2027.42/42310> | en_US |
dc.identifier.issn | 0931-041X | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/42310 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=12733055&dopt=citation | en_US |
dc.description.abstract | Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene ( Cys1 ) was identified and expression in renal cilia demonstrated. Here we describe the cDNA cloning of the full-length coding region of the orthologous human CYS1 gene. CYS1 is located on Chromosome 2p25. The CYS1 genomic region comprises three coding exons, which span 22 kb. The transcript harbors an open reading frame of 477 nucleotides encoding a protein with 158 amino acid residues, which is called cystin. Northern analysis identified an expression pattern resembling that of murine Cys1 . We studied affected individuals of eight families with nephronophthisis and liver fibrosis for evidence of CYS1 mutations. All three coding exons were amplified by polymerase chain reaction and directly sequenced. Despite the failure to detect a mutation, the human cystin gene remains an interesting candidate for recessive cystic kidney disease. | en_US |
dc.format.extent | 353681 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag; IPNA | en_US |
dc.subject.other | CYS1 Cys1 Cystin Nephronophthisis Cilia | en_US |
dc.subject.other | Legacy | en_US |
dc.title | Identification of the human CYS1 gene and candidate gene analysis in Boichis disease | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Public Health | en_US |
dc.subject.hlbsecondlevel | Pediatrics | en_US |
dc.subject.hlbsecondlevel | Internal Medicine and Specialties | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA, | en_US |
dc.contributor.affiliationother | Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany, | en_US |
dc.contributor.affiliationother | Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany, | en_US |
dc.contributor.affiliationother | Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany, | en_US |
dc.contributor.affiliationother | Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany, | en_US |
dc.contributor.affiliationother | Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany, | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 12733055 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/42310/1/s00467-003-1141-1.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/s00467-003-1141-1 | en_US |
dc.identifier.source | Pediatric Nephrology | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.