(Q46123088)

19 December 2017

title

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity (English)

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19 December 2017

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19 December 2017

author name string

Christian L Roth

1

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19 December 2017

Michael Ludwig

2

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19 December 2017

Joachim Woelfle

3

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19 December 2017

Zhen-Chuan Fan

4

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19 December 2017

Harald Brumm

5

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19 December 2017

Heike Biebermann

6

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19 December 2017

publication date

12 February 2009

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19 December 2017

published in

Endocrine

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19 December 2017

volume

36

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19 December 2017

issue

1

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19 December 2017

page(s)

52-59

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19 December 2017

High-efficiency transformation of mammalian cells by plasmid DNA

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS12020-009-9156-4

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms

21 January 2018

1 reference

12 December 2020

Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy

1 reference

12 December 2020

A heterozygous mutation in the third transmembrane domain causes a dominant-negative effect on signalling capability of the MC4R

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12 December 2020

A frameshift mutation in human MC4R is associated with a dominant form of obesity

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12 December 2020

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations

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12 December 2020

Central nervous system control of food intake

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12 December 2020

Leptin increases hypothalamic pro-opiomelanocortin mRNA expression in the rostral arcuate nucleus.

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12 December 2020

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

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12 December 2020

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

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12 December 2020

Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization.

1 reference

12 December 2020

Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity

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12 December 2020

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

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12 December 2020

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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12 December 2020

Body Mass Index variations: centiles from birth to 87 years

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12 December 2020

Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index

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12 December 2020

The LMS method for constructing normalized growth standards

1 reference

12 December 2020

A frameshift mutation in MC4R associated with dominantly inherited human obesity

1 reference

12 December 2020

Conserved helix 7 tyrosine acts as a multistate conformational switch in the 5HT2C receptor. Identification of a novel "locked-on" phenotype and double revertant mutations.

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12 December 2020

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

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12 December 2020

The cytoplasmic tail of the human somatostatin receptor type 5 is crucial for interaction with adenylyl cyclase and in mediating desensitization and internalization

1 reference

12 December 2020

Functional characterization of mutations in melanocortin-4 receptor associated with human obesity

1 reference

12 December 2020

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans

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12 December 2020

Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist

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12 December 2020

Evidence for involvement of the melanocortin MC4 receptor in the effects of leptin on food intake and body weight

1 reference

12 December 2020

Functional roles of the tyrosine within the NP(X)(n)Y motif and the cysteines in the C-terminal juxtamembrane region of the CB2 cannabinoid receptor

1 reference

12 December 2020

Poor Cell Surface Expression of Human Melanocortin-4 Receptor Mutations Associated with Obesity

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12 December 2020

The conserved NPXnY motif present in the gastrin-releasing peptide receptor is not a general sequestration sequence

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12 December 2020

A mutation in the hamster alpha1B-adrenergic receptor that differentiates two steps in the pathway of receptor internalization

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12 December 2020

Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects

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12 December 2020

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

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12 December 2020

Point mutations in the melanocortin-4 receptor cause variable obesity in mice

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12 December 2020

The tyrosine within the NPXnY motif of the human angiotensin II type 1 receptor is involved in mediating signal transduction but is not essential for internalization.

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12 December 2020

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.

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12 December 2020

Genetics of body-weight regulation

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12 December 2020

Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group.

1 reference

12 December 2020

A highly conserved tyrosine residue in G protein-coupled receptors is required for agonist-mediated beta 2-adrenergic receptor sequestration

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12 December 2020

Molecular cloning, expression, and gene localization of a fourth melanocortin receptor

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12 December 2020

Dependence of agonist activation on an aromatic moiety in the DPLIY motif of the gonadotropin-releasing hormone receptor

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12 December 2020

Mutation of tyrosine in the conserved NPXXY sequence leads to constitutive phosphorylation and internalization, but not signaling, of the human B2 bradykinin receptor

1 reference

12 December 2020

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

1 reference

12 December 2020

Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation

1 reference

12 December 2020

Definable somatic disorders in overweight children and adolescents

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12 December 2020

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

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12 December 2020

Functions of acidic transmembrane residues in human melanocortin-3 receptor binding and activation

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12 December 2020

A Conserved NPLFY Sequence Contributes to Agonist Binding and Signal Transduction but Is Not an Internalization Signal for the Type 1 Angiotensin II Receptor

1 reference

12 December 2020

Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin

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12 December 2020

Anatomy and regulation of the central melanocortin system

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12 December 2020

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

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12 December 2020

Overexpression of Agrt leads to obesity in transgenic mice.

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12 December 2020

Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.

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12 December 2020

10.1007/S12020-009-9156-4

Identifiers

DOI

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19 December 2017

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19 December 2017