Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

12 Aug 2008

Abstract excerpt

OBJECTIVE: Homozygous mutations in the gene encoding the pituitary transcription factor PROP1 are associated with combined pituitary hormone deficiency (CPHD) in both mice and humans with a highly variable phenotype with respect to the severity and time of initiation of pituitary hormone deficiency. We have ascertained three pedigrees with PROP1 mutations from a large cohort of patients with variable degrees of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Growth Hormone and Insulin-like Growth Factors
Share to Pituitary Gland Disorders and Treatments
Share to Protein Tyrosine Phosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19128366
DOI: 10.1111/j.1365-2265.2008.03326.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of novel <i>PROP1</i> mutations associated with combined pituitary hormone deficiency (CPHD)PMID 19128366Read ↗

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

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

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of 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 ↗

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

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

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.Semantic proximity Read ↗

Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).Semantic proximity Read ↗

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.Semantic proximity Read ↗

Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.Semantic proximity Read ↗

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.