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Quoted phrase not found in phrase index: "Obesity due to congenital leptin deficiency"
Page 1
From leptin to other adipokines in health and disease: facts and expectations at the beginning of the 21st century.
Blüher M, Mantzoros CS. Blüher M, et al. Metabolism. 2015 Jan;64(1):131-45. doi: 10.1016/j.metabol.2014.10.016. Epub 2014 Oct 23. Metabolism. 2015. PMID: 25497344 Review.
This year marks the 20th anniversary of the discovery of leptin, which has tremendously stimulated translational obesity research. ...After 20 years of intense research efforts, recombinant leptin and the leptin analog metreleptin are already available …
This year marks the 20th anniversary of the discovery of leptin, which has tremendously stimulated translational obesity resea …
Morbidly obese pregnant woman with congenital leptin deficiency: Follow-up and obstetric outcome.
Cagliyan E, Ozmen S, Timur HT, Ozgozen ME, Semiz GG. Cagliyan E, et al. J Obstet Gynaecol Res. 2022 Nov;48(11):2964-2967. doi: 10.1111/jog.15379. Epub 2022 Jul 31. J Obstet Gynaecol Res. 2022. PMID: 35909242
Congenital leptin deficiency is a rare congenital genetic disease. It is characterized by early-onset, severe morbid obesity. ...In this study, we present a 26-year-old pregnant case who had been previously diagnosed with congenital le …
Congenital leptin deficiency is a rare congenital genetic disease. It is characterized by early-onset, severe mo …
Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.
Rajcsanyi LS, Zheng Y, Fischer-Posovszky P, Wabitsch M, Hebebrand J, Hinney A. Rajcsanyi LS, et al. PLoS One. 2022 Sep 19;17(9):e0266642. doi: 10.1371/journal.pone.0266642. eCollection 2022. PLoS One. 2022. PMID: 36121795 Free PMC article.
Homozygosity for pathogenic variants in the leptin gene leads to congenital leptin deficiency causing severe early-onset obesity. ...With the present study, we aimed to extend these findings utilizing the augmented Genome Aggregation Database (g …
Homozygosity for pathogenic variants in the leptin gene leads to congenital leptin deficiency causing severe ear …
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S. Farooqi IS, et al. N Engl J Med. 2007 Jan 18;356(3):237-47. doi: 10.1056/NEJMoa063988. N Engl J Med. 2007. PMID: 17229951 Free PMC article.
Their clinical features were less severe than those of subjects with congenital leptin deficiency. CONCLUSIONS: The prevalence of pathogenic LEPR mutations in a cohort of subjects with severe, early-onset obesity was 3%. ...Congenital leptin …
Their clinical features were less severe than those of subjects with congenital leptin deficiency. CONCLUSIONS: The pre …
Early-onset severe obesity due to complete deletion of the leptin gene in a boy.
Ozsu E, Ceylaner S, Onay H. Ozsu E, et al. J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1227-1230. doi: 10.1515/jpem-2017-0063. J Pediatr Endocrinol Metab. 2017. PMID: 29040067
CONCLUSIONS: To the best of our knowledge, a gross deletion of the LEP gene has not been reported so far in the literature. Here we report a unique case with congenital leptin deficiency. Thus, clinicians should search for monogenic obesity in patients …
CONCLUSIONS: To the best of our knowledge, a gross deletion of the LEP gene has not been reported so far in the literature. Here we report a …
Rarer syndromes characterized by hypogonadotropic hypogonadism.
Aminzadeh M, Kim HG, Layman LC, Cheetham TD. Aminzadeh M, et al. Front Horm Res. 2010;39:154-167. doi: 10.1159/000312701. Epub 2010 Apr 8. Front Horm Res. 2010. PMID: 20389093
Hypogonadotropic hypogonadism (HH) secondary to hypothalamic gonadotropin-releasing hormone deficiency is a notable feature of a number of rare syndromes, where unlike idiopathic (isolated) HH, other endocrinopathies may also be apparent. ...LEP deficiency, DAX-1 an …
Hypogonadotropic hypogonadism (HH) secondary to hypothalamic gonadotropin-releasing hormone deficiency is a notable feature of a numb …
Long-term stabilization effects of leptin on brain functions in a leptin-deficient patient.
Frank S, Heni M, Moss A, von Schnurbein J, Farooqi S, Häring HU, Fritsche A, Preissl H, Wabitsch M. Frank S, et al. PLoS One. 2013 Jun 14;8(6):e65893. doi: 10.1371/journal.pone.0065893. Print 2013. PLoS One. 2013. PMID: 23799059 Free PMC article.
CONTEXT: Congenital leptin deficiency, caused by a very rare mutation in the gene encoding leptin, leads to severe obesity, hyperphagia and impaired satiety. ...CONCLUSION: This follow-up study shows that the long lasting benefit of metreleptin …
CONTEXT: Congenital leptin deficiency, caused by a very rare mutation in the gene encoding leptin, leads to seve …
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.
Mazen I, El-Gammal M, Abdel-Hamid M, Farooqi IS, Amr K. Mazen I, et al. Mol Genet Metab. 2011 Apr;102(4):461-4. doi: 10.1016/j.ymgme.2010.12.013. Epub 2010 Dec 31. Mol Genet Metab. 2011. PMID: 21306929
Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset obesity. ...Here we report two cousins with severe early onset obesity and recurrent respiratory tract infections. Their serum leptin levels were elev …
Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset obesity. ...Here we repo …