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Items: 1 to 20 of 116

1.

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.

Challis BG, Pritchard LE, Creemers JW, Delplanque J, Keogh JM, Luan J, Wareham NJ, Yeo GS, Bhattacharyya S, Froguel P, White A, Farooqi IS, O'Rahilly S.

Hum Mol Genet. 2002 Aug 15;11(17):1997-2004.

PMID:
12165561
2.

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

Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A.

Nat Genet. 1998 Jun;19(2):155-7.

PMID:
9620771
3.

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.

Lee YS, Challis BG, Thompson DA, Yeo GS, Keogh JM, Madonna ME, Wraight V, Sims M, Vatin V, Meyre D, Shield J, Burren C, Ibrahim Z, Cheetham T, Swift P, Blackwood A, Hung CC, Wareham NJ, Froguel P, Millhauser GL, O'Rahilly S, Farooqi IS.

Cell Metab. 2006 Feb;3(2):135-40.

4.

Systematic mutation screening of the pro-opiomelanocortin gene: identification of several genetic variants including three different insertions, one nonsense and two missense point mutations in probands of different weight extremes.

Hinney A, Becker I, Heibült O, Nottebom K, Schmidt A, Ziegler A, Mayer H, Siegfried W, Blum WF, Remschmidt H, Hebebrand J.

J Clin Endocrinol Metab. 1998 Oct;83(10):3737-41.

PMID:
9768693
5.

A novel missense mutation in the signal peptide of the human POMC gene: a possible additional link between early-onset type 2 diabetes and obesity.

Mencarelli M, Zulian A, Cancello R, Alberti L, Gilardini L, Di Blasio AM, Invitti C.

Eur J Hum Genet. 2012 Dec;20(12):1290-4. doi: 10.1038/ejhg.2012.103. Epub 2012 May 30.

6.

Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, Grüters A.

J Clin Endocrinol Metab. 2003 Oct;88(10):4633-40.

PMID:
14557433
7.

Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations.

Miraglia del Giudice E, Cirillo G, Santoro N, D'Urso L, Carbone MT, Di Toro R, Perrone L.

Int J Obes Relat Metab Disord. 2001 Jan;25(1):61-7.

PMID:
11244459
8.

[Screening of mutations in genes of pro-opiomelanocortin in patients with constitutional exogenous obesity].

Pankov IuA, Iatsyshina SB, Karpova SK, Chekhranova MK, Popova IuP, Grigorian ON, Rogaev EI.

Vopr Med Khim. 2002 Jan-Feb;48(1):121-30. Russian.

PMID:
12068494
9.

Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain.

Dubern B, Lubrano-Berthelier C, Mencarelli M, Ersoy B, Frelut ML, Bouglé D, Costes B, Simon C, Tounian P, Vaisse C, Clement K.

Pediatr Res. 2008 Feb;63(2):211-6.

PMID:
18091355
10.

Weight loss in obese children carrying the proopiomelanocortin R236G variant.

Santoro N, Perrone L, Cirillo G, Raimondo P, Amato A, Coppola F, Santarpia M, D'Aniello A, Miraglia Del Giudice E.

J Endocrinol Invest. 2006 Mar;29(3):226-30.

PMID:
16682835
11.

Pro-opiomelanocortin (POMC) deficiency and peripheral melanocortins in obesity.

Zemel MB, Shi H.

Nutr Rev. 2000 Jun;58(6):177-80. Review.

PMID:
10885325
12.

Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.

Dubern B, Clément K, Pelloux V, Froguel P, Girardet JP, Guy-Grand B, Tounian P.

J Pediatr. 2001 Aug;139(2):204-9.

PMID:
11487744
13.

Prevalence of POMC R236G mutation in Pakistan.

Shabana, Hasnain S.

Obes Res Clin Pract. 2016 Sep;10 Suppl 1:S110-S116. doi: 10.1016/j.orcp.2015.10.007. Epub 2015 Nov 1.

PMID:
26530524
14.

Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.

Creemers JW, Lee YS, Oliver RL, Bahceci M, Tuzcu A, Gokalp D, Keogh J, Herber S, White A, O'Rahilly S, Farooqi IS.

J Clin Endocrinol Metab. 2008 Nov;93(11):4494-9. doi: 10.1210/jc.2008-0954. Epub 2008 Aug 12.

PMID:
18697863
15.

A role for beta-melanocyte-stimulating hormone in human body-weight regulation.

Biebermann H, Castañeda TR, van Landeghem F, von Deimling A, Escher F, Brabant G, Hebebrand J, Hinney A, Tschöp MH, Grüters A, Krude H.

Cell Metab. 2006 Feb;3(2):141-6.

16.

Pro-opiomelanocortin processing in the hypothalamus: impact on melanocortin signalling and obesity.

Pritchard LE, Turnbull AV, White A.

J Endocrinol. 2002 Mar;172(3):411-21. Review.

17.

[Monogenic forms of obesity: from mice to human].

Clément K.

Ann Endocrinol (Paris). 2000 Dec;61 Suppl 6:39-49. Review. French.

PMID:
11148335
18.
19.

Late Diagnosis of POMC Deficiency and In Vitro Evidence of Residual Translation From Allele With c.-11C>A Mutation.

Anisimova AS, Rubtsov PM, Akulich KA, Dmitriev SE, Frolova E, Tiulpakov A.

J Clin Endocrinol Metab. 2017 Feb 1;102(2):359-362. doi: 10.1210/jc.2016-3318.

PMID:
27906547
20.

Expression of three proopiomelanocortin subtype genes and mass spectrometric identification of POMC-derived peptides in pars distalis and pars intermedia of barfin flounder pituitary.

Takahashi A, Amano M, Amiya N, Yamanome T, Yamamori K, Kawauchi H.

Gen Comp Endocrinol. 2006 Feb;145(3):280-6. Epub 2005 Oct 20.

PMID:
16242690

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