Monogenic forms of childhood obesity due to mutations in the leptin gene
JB Funcke, J von Schnurbein, B Lennerz… - Molecular and cellular …, 2014 - Springer
Monogenic forms of childhood obesity due to mutations in the leptin gene | Molecular and
Cellular Pediatrics Skip to main content Advertisement SpringerLink Account Menu Find a …
Cellular Pediatrics Skip to main content Advertisement SpringerLink Account Menu Find a …
Severe early-onset obesity due to bioinactive leptin caused by a p. N103K mutation in the leptin gene
M Wabitsch, JB Funcke… - The Journal of …, 2015 - academic.oup.com
Context: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We
recently characterized a mutation in the leptin gene (p. D100Y), which was associated with …
recently characterized a mutation in the leptin gene (p. D100Y), which was associated with …
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity
I Mazen, M El-Gammal, M Abdel-Hamid… - Molecular genetics and …, 2011 - Elsevier
Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset
obesity. To date, only 9 families have been reported in the literature to have mutations in the …
obesity. To date, only 9 families have been reported in the literature to have mutations in the …
Congenital leptin deficiency due to homozygosity for the Δ133G mutation: report of another case and evaluation of response to four years of leptin therapy
WT Gibson, IS Farooqi, M Moreau… - The Journal of …, 2004 - academic.oup.com
Congenital leptin deficiency is a rare, but treatable, cause of severe early-onset obesity. To
date, two United Kingdom families of Pakistani origin carrying a frameshift/premature stop …
date, two United Kingdom families of Pakistani origin carrying a frameshift/premature stop …
Monogenic leptin deficiency in early childhood obesity
G ElSaeed, N Mousa, F El‐Mougy, M Hafez… - Pediatric …, 2020 - Wiley Online Library
Background Early childhood obesity is a public health problem worldwide. It affects different
aspects of physical and mental child's health. Identifying the etiologies, especially treatable …
aspects of physical and mental child's health. Identifying the etiologies, especially treatable …
Leptin and the genetics of obesity
K Clement - Acta Paediatrica, 1999 - Wiley Online Library
Clément K. Leptin and the genetics of obesity. Acta Pædiatr 1999; Suppl 428: 51–7.
Stockholm. ISSN 0803–5326 The discovery of the Ob gene and its product, leptin, is a good …
Stockholm. ISSN 0803–5326 The discovery of the Ob gene and its product, leptin, is a good …
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
I Mazen, M El-Gammal, M Abdel-Hamid… - Molecular genetics and …, 2009 - Elsevier
Congenital leptin deficiency is a rare recessive genetic disorder resulting in severe
hyperphagia and early onset obesity. It is caused by mutations in the LEP gene encoding …
hyperphagia and early onset obesity. It is caused by mutations in the LEP gene encoding …
Leptin deficiency and leptin gene mutations in obese children from Pakistan
Background: Congenital leptin deficiency is a rare human genetic condition clinically
characterized by hyperphagia and acute weight gain usually during the first postnatal year …
characterized by hyperphagia and acute weight gain usually during the first postnatal year …
Leptin: defining its role in humans by the clinical study of genetic disorders
S O'Rahilly - Nutrition reviews, 2002 - academic.oup.com
Extremely unusual genetic conditions can reveal normal processes governing physiologic
regulation and metabolism. Children with rare homozygous mutations in the leptin gene and …
regulation and metabolism. Children with rare homozygous mutations in the leptin gene and …
Homozygosity for two missense mutations in the leptin receptor gene (P316T;W646C) in a Turkmenian girl with severe early-onset obesity
Leptin receptor gene mutations are a very rare cause of severe early-onset obesity. They are
also associated with lack of pubertal development and intense hyperphagia. Presented here …
also associated with lack of pubertal development and intense hyperphagia. Presented here …