Discover Community Create You

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

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.

PloS one - 1 Jan 2015

Rochette Claire, Jullien Nicolas, Saveanu Alexandru, Caldagues Emmanuelle, Bergada Ignacio, Braslavsky Debora, Pfeifer Marija, Reynaud Rachel, Herman Jean-Paul, Barlier Anne, Brue Thierry, Enjalbert Alain, Castinetti Frederic

Abstract excerpt

LHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis. To date, 8 heterozygous LHX4 mutations have been reported as responsible of combined pituitary hormone deficiency (CPHD) in Humans. We identified 4 new LHX4 heterozygous allelic variants in patients with congenital hypopituitarism: W204X, delK242, N271S and Q346R. Our objective was to determine the role of LHX4...

Read the complete abstract on PubMed

Topics

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

Share to Adrenocorticotropic Hormone
Share to Growth Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HEK293 Cells

Share to Heterozygote

Share to Hypopituitarism

Share to LIM-Homeodomain Proteins

Share to Thyrotropin

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 25955177
DOI: 10.1371/journal.pone.0126648
PMCID: PMC4425544

Genes

LHX4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.PMID 25955177Read ↗

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.Semantic proximity Read ↗

A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.Semantic proximity Read ↗

Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone DeficienciesSemantic proximity Read ↗

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.Semantic proximity Read ↗

Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive<i>LHX4</i>MutationSemantic proximity Read ↗

A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella TurcicaSemantic proximity Read ↗

Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects.Semantic proximity Read ↗

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.Semantic proximity Read ↗

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

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.Semantic proximity Read ↗

Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with<i>LHX4</i>DeletionSemantic proximity Read ↗

LHX3 and LHX4 transcription factors in pituitary development and disease.Semantic proximity Read ↗

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