(Q57848895)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Identification and functional characterization of novel mutations in the melanocortin-4 receptor (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Stijn L Verhulst

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Jean-Pierre Timmermans

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Wim Van Hul

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

author name string

Sigri Beckers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Doreen Zegers

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Fenna de Freitas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Guy Massa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Luc F Van Gaal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Kristine N Desager

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

publication date

15 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

page(s)

304-311

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

Identification and functional analysis of novel human melanocortin-4 receptor variants

14 January 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational analysis of melanocortin-4 receptor, agouti-related protein, and α-melanocyte-stimulating hormone genes in severely obese children

1 reference

12 December 2020

A Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity

1 reference

12 December 2020

A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity

1 reference

12 December 2020

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity

1 reference

12 December 2020

Melanocortin 4 Receptor Sequence Variations Are Seldom a Cause of Human Obesity: The Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis Cohort

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Cell surface expression of the melanocortin-4 receptor is dependent on a C-terminal di-isoleucine sequence at codons 316/317.

1 reference

12 December 2020

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

1 reference

12 December 2020

Binge eating as a major phenotype of melanocortin 4 receptor gene mutations

1 reference

12 December 2020

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

1 reference

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.

1 reference

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

Melanocortin-4 receptor gene variant I103 is negatively associated with obesity

1 reference

12 December 2020

A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.

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

Prevalence of Mutations and Functional Analyses of Melanocortin 4 Receptor Variants Identified among 750 Men with Juvenile-Onset Obesity

1 reference

12 December 2020

Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function

1 reference

12 December 2020

Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children.

1 reference

12 December 2020

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany

1 reference

12 December 2020

Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating

1 reference

12 December 2020

Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity

1 reference

12 December 2020

Definable somatic disorders in overweight children and adolescents

1 reference

12 December 2020

Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene

1 reference

12 December 2020

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis

1 reference

12 December 2020

Common variants near MC4R are associated with fat mass, weight and risk of obesity

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

Intracellular retention of human melanocortin-4 receptor: a molecular mechanism underlying early-onset obesity in F261S pedigree of Chinese

1 reference

12 December 2020

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

1 reference

12 December 2020

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

1 reference

12 December 2020

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

1 reference

12 December 2020

Obesity and eating behaviour in a three-generation Chilean family with carriers of the Thrl50Ile mutation in the melanocortin-4 receptor gene.

1 reference

12 December 2020

Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.

1 reference

12 December 2020

NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium

1 reference

12 December 2020

References for growth and pubertal development from birth to 21 years in Flanders, Belgium

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital leptin deficiency is associated with severe early-onset obesity in humans

1 reference

12 December 2020

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

1 reference

12 December 2020

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

1 reference

12 December 2020

A frameshift mutation in MC4R associated with dominantly inherited human obesity

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1159/000321565

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20975296%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

PubMed publication ID

20975296

1 reference