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Am J Hum Genet 2011 Nov;89(5):668-74

Pediatrics II, University Children's Hospital Essen, 45122 Essen, Germany.

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. Read More

Pediatr Nephrol 2014 Mar 13;29(3):353-60. Epub 2013 Apr 13.

Centre for Paediatrics Child Health, University of Manchester, Michael Smith Building, Oxford Road, Manchester, M13 9PT, UK,

Lower urinary tract and/or kidney malformations are collectively the most common cause of end-stage renal disease in children, and they are also likely to account for a major subset of young adults requiring renal replacement therapy. Advances have been made regarding the discovery of the genetic causes of human kidney malformations. Indeed, testing for mutations of key nephrogenesis genes is now feasible for patients seen in nephrology clinics. Read More

Naunyn Schmiedebergs Arch Pharmacol 2003 May 28;367(5):524-31. Epub 2003 Mar 28.

Department of Medicine, University of Essen, Germany.

Since symptoms of bladder dysfunction occur more frequently in women than in men and since muscarinic receptors are the physiologically most important system to mediate bladder contraction, we have compared the number, subtype distribution and function of muscarinic receptors in bladders from male and female rats. Muscarinic receptor function was also assessed in bladder strips from male and female human bladder. Male and female rats expressed a similar number of muscarinic receptors (144+/-5 vs. Read More

Prog Neuropsychopharmacol Biol Psychiatry 2013 Dec 17;47:7-12. Epub 2013 Aug 17.

Molecular Psychiatry Laboratory, The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia; Department of Psychiatry, the University of Melbourne, Parkville, VIC, Australia.

[(3)H]4-DAMP is a radioligand that has been used to quantify levels of the muscarinic receptor CHRM3 protein in situ. However, in addition to high affinity binding to CHRM3, [(3)H]4-DAMP binds with low affinity to CHRM1 confounding the potential to discriminate between changes in these two muscarinic receptors. We have developed a [(3)H]4-DAMP binding assay, optimised for measuring CHRM3 protein levels in the cortex, with minimal selectivity towards CHRM1. Read More