(Q37803056)

23 August 2017

Chipping away the 'missing heritability': GIANT steps forward in the molecular elucidation of obesity - but still lots to go (English)

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13 May 2020

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2

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13 May 2020

author name string

Nadja Knoll

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6452141&resulttype=core&format=json

13 May 2020

Johannes Hebebrand

series ordinal

1

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13 May 2020

Anke Hinney

series ordinal

4

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13 May 2020

publication date

15 October 2010

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23 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6452141&resulttype=core&format=json

13 May 2020

volume

3

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13 May 2020

issue

5

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13 May 2020

page(s)

294-303

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

13 May 2020

cites work

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12 December 2020

Distribution and heritability of BMI in Finnish adolescents aged 16y and 17y: a study of 4884 twins and 2509 singletons

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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

Prevalence and Penetrance of BRCA1 and BRCA2 Gene Mutations in Unselected Ashkenazi Jewish Women With Breast Cancer

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12 December 2020

Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene

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12 December 2020

Epidemic obesity: are genetic factors involved via increased rates of assortative mating?

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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

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

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12 December 2020

Familial resemblance of body mass index and familial risk of high and low body mass index. A study of young men in Sweden

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12 December 2020

On the use of familial aggregation in population-based case probands for calculating penetrance.

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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

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

Sex differences in heritability of BMI: a comparative study of results from twin studies in eight countries

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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.

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12 December 2020

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults

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12 December 2020

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

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12 December 2020

Time trends (1993-1997) and seasonal variation in body mass index and waist circumference in the Netherlands

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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

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

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12 December 2020

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

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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

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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

Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population

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12 December 2020

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

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12 December 2020

Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

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12 December 2020

Genome-wide atlas of gene expression in the adult mouse brain

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12 December 2020

The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals

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12 December 2020

Strong association of de novo copy number mutations with autism

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12 December 2020

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

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12 December 2020

The genetic and environmental sources of body mass index variability: the Muscatine Ponderosity Family Study

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Copy-number analysis goes more than skin deep

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12 December 2020

Association between microdeletion and microduplication at 16p11.2 and autism

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12 December 2020

Monogenic human obesity

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12 December 2020

Association of the MC4R V103I polymorphism with the metabolic syndrome: the KORA Study

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12 December 2020

Common genetic variation near MC4R is associated with waist circumference and insulin resistance

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12 December 2020

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

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12 December 2020

Common and rare variants in multifactorial susceptibility to common diseases

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12 December 2020

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

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12 December 2020

Large recurrent microdeletions associated with schizophrenia

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

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12 December 2020

Progress in genome-wide association studies of human height.

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12 December 2020

Obesity: Causes and control of excess body fat.

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12 December 2020

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

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12 December 2020

Association of the MC4R V103I polymorphism with obesity: a Chinese case-control study and meta-analysis in 55,195 individuals

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12 December 2020

Large, rare chromosomal deletions associated with severe early-onset obesity

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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

Genetics of tracking of body mass index from birth to late middle age: evidence from twin and family studies

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12 December 2020

Rare variants create synthetic genome-wide associations

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12 December 2020

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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12 December 2020

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

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12 December 2020

The pursuit of genome-wide association studies: where are we now?

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12 December 2020

Genome-wide association studies in diverse populations

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12 December 2020

Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups

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12 December 2020

CNS leptin action modulates immune response and survival in sepsis.

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12 December 2020

Uncovering the roles of rare variants in common disease through whole-genome sequencing

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12 December 2020

Missing heritability and strategies for finding the underlying causes of complex disease

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12 December 2020

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

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12 December 2020

Common SNPs explain a large proportion of the heritability for human height

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12 December 2020

Associations between BMI and the FTO gene are age dependent: results from the GINI and LISA birth cohort studies up to age 6 years.

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12 December 2020

Large copy-number variations are enriched in cases with moderate to extreme obesity.

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12 December 2020

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

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12 December 2020

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

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12 December 2020

The Body-Mass Index of Twins Who Have Been Reared Apart

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12 December 2020

Genetic and environmental variation in the birth weight of twins

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12 December 2020

Inheritance of the amount and distribution of human body fat

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12 December 2020

A twin study of human obesity.

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12 December 2020

Relationship between body mass indices and measures of body adiposity

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12 December 2020

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12 December 2020

Genetic influences on adult weight gain and maximum body mass index in male twins

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12 December 2020

Positional cloning of the mouse obese gene and its human homologue

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12 December 2020

Appetite and the regulation of body composition

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12 December 2020

The predictive value of childhood body mass index values for overweight at age 35 y

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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

The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews

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12 December 2020

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

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12 December 2020

Genetic and environmental factors in relative body weight and human adiposity

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A frameshift mutation in MC4R associated with dominantly inherited human obesity

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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

Identifiers

DOI

10.1159/000321537

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6452141&resulttype=core&format=json

13 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6452141&resulttype=core&format=json

13 May 2020

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