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Article

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

The Journal of clinical endocrinology and metabolism - 1 May 1999

Deladoëy J, Flück C, Büyükgebiz A, Kuhlmann B V, Eblé A, Hindmarsh P C, Wu W, Mullis P E

Abstract excerpt

As pituitary function depends on the integrity of the hypothalamic-pituitary axis, any defect in the development and organogenesis of this gland may account for a form of combined pituitary hormone deficiency (CPHD). Although pit-1 was 1 of the first factors identified as a cause of CPHD in mice, many other homeodomain and transcription factors have been characterized as being involved in different developmental...

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Source

Identifiers

PMID: 10323394
DOI: 10.1210/jcem.84.5.5681

Genes

PROP1
AGT
CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.PMID 10323394Read ↗

"Hot Spot" in the PROP1 Gene Responsible for Combined Pituitary Hormone DeficiencySemantic proximity Read ↗

A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency.Semantic proximity Read ↗

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone DeficiencySemantic proximity Read ↗

Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.Semantic proximity Read ↗

Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.Semantic proximity Read ↗

Molecular analysis of novel <i>PROP1</i> mutations associated with combined pituitary hormone deficiency (CPHD)Semantic proximity Read ↗

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.Semantic proximity Read ↗

Impaired Adrenocorticotropin-Adrenal Axis in Combined Pituitary Hormone Deficiency Caused by a Two-Base Pair Deletion (301–302delAG) in the Prophet of Pit-1 Gene<sup>1</sup>Semantic proximity Read ↗

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).Semantic proximity Read ↗

Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency.Semantic proximity Read ↗

Combined pituitary hormone deficiency: role of Pit-1 and Prop-1.Semantic proximity Read ↗

Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein.Semantic proximity Read ↗

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