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Items: 1 to 20 of 124

1.

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
2.

Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.

Branson R, Potoczna N, Kral JG, Lentes KU, Hoehe MR, Horber FF.

N Engl J Med. 2003 Mar 20;348(12):1096-103.

3.

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
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.

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
6.

Pro-opiomelanocortin gene is associated with serum leptin levels in lean but not in obese individuals.

Suviolahti E, Ridderstråle M, Almgren P, Klannemark M, Melander O, Carlsson E, Carlsson M, Hedenbro J, Orho-Melander M.

Int J Obes Relat Metab Disord. 2003 Oct;27(10):1204-11.

PMID:
14513068
7.

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

Clément K.

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

PMID:
11148335
8.

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
9.

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
10.

Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy.

Buono P, Pasanisi F, Nardelli C, Ieno L, Capone S, Liguori R, Finelli C, Oriani G, Contaldo F, Sacchetti L.

Clin Chem. 2005 Aug;51(8):1358-64. Epub 2005 Jun 10.

11.

[Genetic variations in energy balance regulation].

Pankov IuA.

Biomed Khim. 2010 Mar-Apr;56(2):152-67. Review. Russian.

PMID:
21341504
12.

ARC POMC mRNA and PVN alpha-MSH are lower in obese relative to lean zucker rats.

Kim EM, O'Hare E, Grace MK, Welch CC, Billington CJ, Levine AS.

Brain Res. 2000 Apr 17;862(1-2):11-6.

PMID:
10799663
13.

Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.

Lubrano-Berthelier C, Dubern B, Lacorte JM, Picard F, Shapiro A, Zhang S, Bertrais S, Hercberg S, Basdevant A, Clement K, Vaisse C.

J Clin Endocrinol Metab. 2006 May;91(5):1811-8. Epub 2006 Feb 28.

PMID:
16507637
14.

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.

Hainerová I, Larsen LH, Holst B, Finková M, Hainer V, Lebl J, Hansen T, Pedersen O.

J Clin Endocrinol Metab. 2007 Sep;92(9):3689-96. Epub 2007 Jun 19.

PMID:
17579204
15.

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.

16.

Melanocortin activation of nucleus of the solitary tract avoids anorectic tachyphylaxis and induces prolonged weight loss.

Li G, Zhang Y, Rodrigues E, Zheng D, Matheny M, Cheng KY, Scarpace PJ.

Am J Physiol Endocrinol Metab. 2007 Jul;293(1):E252-8. Epub 2007 Mar 27.

17.

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

Zemel MB, Shi H.

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

PMID:
10885325
18.

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.

19.

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
20.

Induction of neuropeptide Y gene expression in the dorsal medial hypothalamic nucleus in two models of the agouti obesity syndrome.

Kesterson RA, Huszar D, Lynch CA, Simerly RB, Cone RD.

Mol Endocrinol. 1997 May;11(5):630-7.

PMID:
9139806

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