Weber, Stefanie, Thiele, Holger, Mir, Sevgi, Toliat, Mohammad Reza, Sozeri, Betuel, Reutter, Heiko, Draaken, Markus ORCID: 0000-0002-4546-0786, Ludwig, Michael, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Stuart, Helen M., Ranjzad, Parisa ORCID: 0000-0001-7413-4157, Hanley, Neil A., Jennings, Rachel, Newman, William G., Wilcox, Duncan T., Thiel, Uwe, Schlingmann, Karl Peter, Beetz, Rolf, Hoyer, Peter F., Konrad, Martin, Schaefer, Franz, Nuernberg, Peter and Woolf, Adrian S. ORCID: 0000-0001-5541-1358 (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am. J. Hum. Genet., 89 (5). S. 668 - 675. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

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Abstract

Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mendelian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Weber, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mir, SevgiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toliat, Mohammad RezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sozeri, BetuelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reutter, HeikoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Draaken, MarkusUNSPECIFIEDorcid.org/0000-0002-4546-0786UNSPECIFIED
Ludwig, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Frommolt, PeterUNSPECIFIEDorcid.org/0000-0002-1966-8014UNSPECIFIED
Stuart, Helen M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ranjzad, ParisaUNSPECIFIEDorcid.org/0000-0001-7413-4157UNSPECIFIED
Hanley, Neil A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jennings, RachelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Newman, William G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wilcox, Duncan T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiel, UweUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schlingmann, Karl PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beetz, RolfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoyer, Peter F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Konrad, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaefer, FranzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woolf, Adrian S.UNSPECIFIEDorcid.org/0000-0001-5541-1358UNSPECIFIED
URN: urn:nbn:de:hbz:38-485409
DOI: 10.1016/j.ajhg.2011.10.007
Journal or Publication Title: Am. J. Hum. Genet.
Volume: 89
Number: 5
Page Range: S. 668 - 675
Date: 2011
Publisher: CELL PRESS
Place of Publication: CAMBRIDGE
ISSN: 0002-9297
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
MICE LACKING; EXPRESSION; GENE; RAT; M-2Multiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/48540

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