(Q34347689)

1 August 2017

title

Whole exome sequencing of extreme morbid obesity patients: translational implications for obesity and related disorders (English)

1 reference

1 August 2017

0 references

1 reference

Hardip R Patel

4

0 references

Aaron Chuah

Aaron Chuah

6

0 references

Cesar Boguszewski

Cesar L Boguszewski

8

0 references

Claudio A. Mastronardi

Claudio A Mastronardi

3

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Mauricio Arcos-Burgos

Mauricio Arcos-Burgos

10

0 references

Julio Licinio

Julio Licinio

11

0 references

Gavin A Huttley

7

Gavin A Huttley

1 reference

1 August 2017

Gilberto Paz-Filho

1

1 reference

1 August 2017

Margaret C S Boguszewski

2

1 reference

1 August 2017

Angad S Johar

5

1 reference

1 August 2017

Ma-Li Wong

9

1 reference

1 August 2017

publication date

25 August 2014

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1 August 2017

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1 August 2017

volume

5

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1 August 2017

issue

3

1 reference

1 August 2017

page(s)

709-725

1 reference

Creative Commons Attribution 4.0 International

1 August 2017

copyright license

start time

25 August 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Replication of 6 obesity genes in a meta-analysis of genome-wide association studies from diverse ancestries

6 July 2018

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Meta-analysis reveals the association of common variants in the uncoupling protein (UCP) 1-3 genes with body mass index variability

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Guidelines for investigating causality of sequence variants in human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

The promise of whole-exome sequencing in medical genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

6 July 2018

1 reference

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A forward genetic screen in mice identifies mutants with abnormal cortical patterning

6 July 2018

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Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity

6 July 2018

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Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease

6 July 2018

1 reference

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Clusterin and LRP2 are critical components of the hypothalamic feeding regulatory pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

From obesity genetics to the future of personalized obesity therapy

6 July 2018

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Global obesity: trends, risk factors and policy implications

6 July 2018

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De novo mutations in human genetic disease

6 July 2018

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Clinical application of exome sequencing in undiagnosed genetic conditions

6 July 2018

1 reference

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Uncoupling protein 2 gene polymorphisms are associated with obesity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Genetic determinants of common obesity and their value in prediction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Exome sequencing as a tool for Mendelian disease gene discovery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa

6 July 2018

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Can faulty antennae increase adiposity? The link between cilia proteins and obesity.

6 July 2018

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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis

6 July 2018

1 reference

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Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

The LDL receptor-related protein (LRP) family: an old family of proteins with new physiological functions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Megalin mediates the transport of leptin across the blood-CSF barrier.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Genetics of Obesity in Humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Hypothalamic mTOR signaling regulates food intake

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Evidence indicating that renal tubular metabolism of leptin is mediated by megalin but not by the leptin receptors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Genetic and environmental factors in relative body weight and human adiposity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Defective forebrain development in mice lacking gp330/megalin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Apolipoprotein J expression at fluid-tissue interfaces: potential role in barrier cytoprotection

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4198926

Ciliary dysfunction and obesity

6 July 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030709

Mutation of megalin leads to urinary loss of selenoprotein P and selenium deficiency in serum, liver, kidneys and brain

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030709

Ala55Val polymorphism on UCP2 gene predicts greater weight loss in morbidly obese patients undergoing gastric banding

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030709

Role of neuroepithelial Sonic hedgehog in hypothalamic patterning.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FGENES5030709

Association of Melanin-Concentrating Hormone Receptor 1 5' Polymorphism With Early-Onset Extreme Obesity

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25158045

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25158045

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The association between the val/ala-55 polymorphism of the uncoupling protein 2 gene and exercise efficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25158045

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3390/GENES5030709

1 reference

1 August 2017

1 reference

1 August 2017

1 reference