(Q39463665)

12 September 2017

title

Characterization of the melanocortin-4-receptor nonsense mutation W16X in vitro and in vivo (English)

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12 September 2017

11

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12 September 2017

R Kühn

4

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Jan Rozman

object named as

J Rozman

10

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author name string

F Bolze

1

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12 September 2017

N Rink

2

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12 September 2017

H Brumm

3

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12 September 2017

S Mocek

5

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12 September 2017

A-E Schwarz

6

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12 September 2017

C Kless

7

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H Biebermann

8

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W Wurst

9

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12 September 2017

publication date

4 October 2011

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The Pharmacogenomics Journal

12 September 2017

published in

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12 September 2017

volume

13

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12 September 2017

issue

1

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12 September 2017

page(s)

80-93

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https://scigraph.springernature.com/pub.10.1038/tpj.2011.43

12 September 2017

exact match

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cites work

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Proposed molecular and cellular mechanism for aminoglycoside ototoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Obesity as a medical problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Environmental and genetic risk factors in obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Several Mutations in the Melanocortin-4 Receptor Gene Including a Nonsense and a Frameshift Mutation Associated with Dominantly Inherited Obesity in Humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Proopiomelanocortin processing in the pituitary, central nervous system, and peripheral tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Response of melanocortin-4 receptor-deficient mice to anorectic and orexigenic peptides.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Targeted disruption of the melanocortin-4 receptor results in obesity in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

N-ethyl-N-nitrosourea-based generation of mouse models for mutant G protein-coupled receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Hybrid vigor, fetal overgrowth, and viability of mice derived by nuclear cloning and tetraploid embryo complementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Skin and mucous membrane ulceration in beagle dogs following oral dosing with an experimental aminoglycoside antibiotic

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

A recurring problem with the analysis of energy expenditure in genetic models expressing lean and obese phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Identification of body fat mass as a major determinant of metabolic rate in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Hyperleptinemia in A(y)/a mice upregulates arcuate cocaine- and amphetamine-regulated transcript expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Voluntary exercise prevents the obese and diabetic metabolic syndrome of the melanocortin-4 receptor knockout mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

The human intronless melanocortin 4-receptor gene is NMD insensitive

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Intermittent MTII application evokes repeated anorexia and robust fat and weight loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Cerebrospinal fluid penetration of amikacin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Effect of osmotic blood-brain barrier disruption on gentamicin penetration into the cerebrospinal fluid and brains of normal rabbits

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

Morphology and function of capillary networks in subregions of the rat tuber cinereum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FTPJ.2011.43

21 January 2018

Identifiers

DOI

10.1038/TPJ.2011.43

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Dimensions Publication ID

12 September 2017

1022086369

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Fatcat ID

release_tkk36g5nwjczffipf46oxieije

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1 reference