(Q52623835)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

0 references

1 reference

5

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27 January 2020

Sadia Saeed

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Mehwish Anwer

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Taeed A Butt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Muhammad Arslan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

publication date

10 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

27 January 2020

published in

1 reference

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27 January 2020

volume

106

1 reference

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27 January 2020

issue

1

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27 January 2020

page(s)

121-126

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

Positional cloning of the mouse obese gene and its human homologue

27 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

The genetic contribution to non-syndromic human obesity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

A leptin missense mutation associated with hypogonadism and morbid obesity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Human obesity and insulin resistance: lessons from experiments of nature.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin,

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Leptin replacement improves cognitive development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Leptin deficiency and leptin gene mutations in obese children from Pakistan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

The prevalence and demographic characteristics of consanguineous marriages in Pakistan

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

7 January 2021

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

inferred from DOI database lookup

7 January 2021

based on heuristic

Kinship, Cultural Preference and Immigration: Consanguineous Marriage Among British Pakistanis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Consanguineous marriage within social/occupational class boundaries in Pakistan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Leptin in human physiology and therapeutics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Ten years of leptin replacement therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.03.001

10.1016/J.YMGME.2012.03.001

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22463805%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference