(Q35542097)

8 August 2017

0 references

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome (English)

1 reference

8 August 2017

1 reference

10

1 reference

8 August 2017

Parisa Ranjzad

12

0 references

Helen M. Stuart

Helen M Stuart

11

0 references

Markus Draaken

Markus Draaken

7

0 references

Neil A. Hanley

Neil A Hanley

13

0 references

William G. Newman

William G Newman

15

0 references

Adrian S. Woolf

Adrian S Woolf

24

0 references

Peter Nürnberg

23

Peter Nürnberg

1 reference

8 August 2017

5

Sozeri B

1 reference

8 August 2017

9

Janine Altmüller

1 reference

8 August 2017

2

Holger Thiele

1 reference

8 August 2017

Stefanie Weber

1

1 reference

8 August 2017

Sevgi Mir

3

1 reference

8 August 2017

Mohammad Reza Toliat

4

1 reference

8 August 2017

Heiko Reutter

6

1 reference

8 August 2017

Michael Ludwig

8

1 reference

8 August 2017

Rachel Jennings

14

1 reference

8 August 2017

Duncan T Wilcox

16

1 reference

8 August 2017

Uwe Thiel

17

1 reference

8 August 2017

Karl Peter Schlingmann

18

1 reference

8 August 2017

Rolf Beetz

19

1 reference

8 August 2017

Peter F Hoyer

20

1 reference

8 August 2017

Martin Konrad

21

1 reference

8 August 2017

Franz Schaefer

22

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 November 2011

1 reference

American Journal of Human Genetics

8 August 2017

published in

1 reference

8 August 2017

volume

89

1 reference

8 August 2017

issue

5

1 reference

8 August 2017

page(s)

668-674

1 reference

Mutations in HPSE2 cause urofacial syndrome

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Impaired M(3) muscarinic acetylcholine receptor signal transduction through blockade of binding of multiple proteins to its third intracellular loop

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

(PS)2-v2: template-based protein structure prediction server.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

The Sequence Alignment/Map format and SAMtools

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Fast and accurate short read alignment with Burrows-Wheeler transform

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Immunohistochemical analysis of Sonic hedgehog signalling in normal human urinary tract development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Expression of muscarinic and nicotinic acetylcholine receptors in the mouse urothelium

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Perturbation of rRNA synthesis in the bap28 mutation leads to apoptosis mediated by p53 in the zebrafish central nervous system

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Patterns of inheritance in familial prune belly syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Multiple functional defects in peripheral autonomic organs in mice lacking muscarinic acetylcholine receptor gene for the M3 subtype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Megacystis, mydriasis, and ion channel defect in mice lacking the alpha3 neuronal nicotinic acetylcholine receptor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Pathogenesis of the prune-belly anomalad

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

A novel clinical syndrome revealing a deficiency of the muscarinic M3 receptor.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Functional expression of muscarinic and purinoceptors in the urinary bladder of male and female rats and guinea pigs

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Human urinary bladder smooth muscle is dependent on membrane cholesterol for cholinergic activation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Mapping short DNA sequencing reads and calling variants using mapping quality scores

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

The neural control of micturition

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Molecular characterization of M2 and M3 muscarinic receptor expression in bladder from women with refractory idiopathic detrusor overactivity.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Effects of ageing on muscarinic receptor subtypes and function in rat urinary bladder

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Gender comparison of muscarinic receptor expression and function in rat and human urinary bladder: differential regulation of M2 and M3 receptors?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Detecting polymorphisms and mutations in candidate genes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213389

Prune-belly syndrome: report of three siblings

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22077972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22077972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.10.007

1 reference

8 August 2017

1 reference

8 August 2017

1 reference