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

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1986 • 4,785 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

The scanning model for translation: an update.

1989 • 3,525 citations

Targeted Disruption of the Melanocortin-4 Receptor Results in Obesity in Mice

1997 • 2,992 citations

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

1997 • 2,900 citations

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

1998 • 2,333 citations

Role of melanocortinergic neurons in feeding and the agouti obesity syndrome

1997 • 1,891 citations

A leptin missense mutation associated with hypogonadism and morbid obesity

1998 • 1,187 citations

Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene

1997 • 1,125 citations

Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor

1994 • 1,055 citations

Variants of the melanocyte–stimulating hormone receptor gene are associated with red hair and fair skin in humans

1995 • 972 citations

Proopiomelanocortin Processing in the Pituitary, Central Nervous System, and Peripheral Tissues

1988 • 535 citations

The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation.

1996 • 513 citations

Exocrine Gland Dysfunction in MC5-R-Deficient Mice: Evidence for Coordinated Regulation of Exocrine Gland Function by Melanocortin Peptides

1997 • 477 citations

A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2

1997 • 443 citations

The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination

1995 • 390 citations

Characterization of Melanocyte Stimulating Hormone Receptor Variant Alleles in Twins with Red Hair

1997 • 343 citations

Isolation and structural organization of the human corticotropin‐β‐lipotropin precursor gene

1981 • 141 citations

Red coat color in Holstein cattle is associated with a deletion in the MSHR gene

1996 • 137 citations

Complete nucleotide sequence of the human corticotropin-β-lipotropin precursor gene

1983 • 124 citations

The agouti gene: turned on to yellow

1994 • 116 citations

alpha-Thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon.

1985 • 77 citations

A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus.

1996 • 63 citations

Isolated congenital ACTH deficiency: a cleavage enzyme defect?

1994 • 32 citations

Isolated congenital ACTH deficiency: a cleavage enzyme defect?

1993 • 30 citations

Mutation creates an open reading frame within the 5' untranslated region of macaque erythrocyte carbonic anhydrase (CA) I mRNA that suppresses CA I expression and supports the scanning model for translation.

1992 • 23 citations