A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome.

The Cloning of a Family of Genes That Encode the Melanocortin Receptors

1992 • 1,616 citations

Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain.

1994 • 1,059 citations

Molecular cloning, expression, and gene localization of a fourth melanocortin receptor

1993 • 844 citations

Molecular cloning of a novel melanocortin receptor.

1993 • 683 citations

FAMILIAL GLUCOCORTICOID DEFICIENCY WITH ACHALASIA OF THE CARDIA AND DEFICIENT TEAR PRODUCTION

1978 • 435 citations

Molecular Cloning, Expression, and Characterization of a Fifth Melanocortin Receptor

1994 • 305 citations

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

1993 • 268 citations

Molecular Cloning of a Mouse Melanocortin 5 Receptor Gene Widely Expressed in Peripheral Tissues

1994 • 212 citations

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.

1993 • 187 citations

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

1992 • 184 citations

Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

1992 • 179 citations

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.

1990 • 155 citations

Familial Addison's Disease

1959 • 145 citations

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome.

1993 • 132 citations

The Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Cases

1968 • 116 citations

Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima

1991 • 98 citations

Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families.

1995 • 92 citations

Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency

1994 • 82 citations

Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone

1972 • 76 citations

Adrenocorticotropic Hormone and α‐Melanocyte‐Stimulating Hormone Induce Secretion and Protein Phosphorylation in the Rat Lacrimal Gland by Activation of a cAMP‐Dependent Pathway

1982 • 74 citations

Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis.

1975 • 61 citations

Selective ACTH Insensitivity, Achalasia, and Alacrima: a Multisystem Disorder Presenting in Childhood

1983 • 55 citations

Familial adrenocortiocotropin unresponsiveness associated With alacrima and achalasia: Biochemical and molecular studies in two siblings with clincial heterogeneity

1995 • 31 citations

Molecular insights into inherited ACTH resistance syndromes

1994 • 31 citations

Mapping the Human Melanocortin 2 Receptor (Adrenocorticotropic Hormone Receptor; ACTHR) Gene (MC2R) to the Small Arm of Chromosome 18 (18p11.21-pter)

1993 • 27 citations

Receptors for Melanocortin Peptides in the Hypothalamic‐Pituitary‐Adrenal Axis and Skin

1995 • 10 citations