Genetic Heterogeneity of Adrenocorticotropin (ACTH) Resistance Syndromes: Identification of a Novel Mutation of the ACTH Receptor Gene in Hereditary Glucocorticoid Deficiency

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

1992 • 1,616 citations

Sequence Alignment of the G-Protein Coupled Receptor Superfamily

1992 • 847 citations

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

1996 • 513 citations

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

1978 • 435 citations

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

1993 • 268 citations

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

1993 • 187 citations

Vasoactive Intestinal Peptide: A Novel Stimulator of Steroidogenesis by Cultured Rat Granulosa Cells1

1985 • 148 citations

Familial Addison's Disease

1959 • 145 citations

Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.

1996 • 121 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

Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human

1994 • 91 citations

Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.

1996 • 88 citations

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

1994 • 82 citations

Famili�rer Morbus Addison

1967 • 79 citations

Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone

1972 • 76 citations

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.

1995 • 73 citations

Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis.

1975 • 61 citations

Functional Characterization of the Cloned Human ACTH Receptor: Impaired Responsiveness of a Mutant Receptor in Familial Glucocorticoid Deficiency

1993 • 60 citations

A congenital, familial syndrome of adrenocortical insufficiency without hypoaldosteronism

1960 • 53 citations

Molecular genetics of the ACTH and melanocyte-stimulating hormone receptors

1993 • 44 citations

Familial glucocorticoid insufficiency

1973 • 43 citations

HEREDITARY ADRENOCORTICAL UNRESPONSIVENESS TO ACTH

1970 • 38 citations

Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers.

1997 • 36 citations

The ACTH receptor

1996 • 36 citations

Stable expression of normal and mutant human ACTH receptor

1997 • 34 citations

Molecular insights into inherited ACTH resistance syndromes

1994 • 31 citations

Characterization of the transcription start site of the ACTH receptor gene: presence of an intronic sequence in the 5'-flanking region

1994 • 28 citations

Chapter 6 Molecular aspects of precocious puberty

1998 • 5 citations

Recovery of Unlabeled PCR Product from Polyacrylamide Gel for Sequencing

1996 • 4 citations