×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
18559663
2008
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
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.
16507637
2006
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her mother (BMI 37.55 kg/m2, height 164 cm, age 42.5 years) were heterozygous for the deletion. b) A nonsense mutation at position 35 of the MC4-R was detected in two obese probands (BMI 31.29 kg/m2 and BMI 45.91 kg/m2).
10199800
1999
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
GeneticVariation
CLINVAR
We examined the functional properties of 12 different mutations in human MC4R that result in severe, familial, early-onset obesity .
12588803
2003
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
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.
12970296
2003
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.
20966905
2011
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians.
15448103
2004
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.
10903343
2000
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
18801902
2009
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Mutations in MC4R result in a distinct obesity syndrome that is inherited in a codominant manner.
12646665
2003
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
We examined the functional properties of 12 different mutations in human MC4R that result in severe, familial, early-onset obesity .
12588803
2003
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
GeneticVariation
CLINVAR
Mutations in MC4R result in a distinct obesity syndrome that is inherited in a codominant manner.
12646665
2003
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.
25332687
2014
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.
12690102
2003
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
GeneticVariation
CLINVAR
Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone.
20631012
2010
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
This study shows a carrier frequency of 2.5% of pathogenic mutations in the MC4R gene in a population-based study of obese men.
15486053
2005
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
GeneticVariation
CLINVAR
Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.
26179253
2015
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.
19301229
2009
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
GeneticVariation
CLINVAR
High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.
22463805
2012
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Obesity-associated mutations in the human melanocortin-4 receptor gene.
16274851
2006
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
19091795
2009
×
Entrez Id:
4160
Gene Symbol:
MC4R
MC4R
Obesity
1.000
CausalMutation
CLINVAR
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor.
17628007
2007