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

An exon splice enhancer mutation causes autosomal dominant GH deficiency.

The Journal of clinical endocrinology and metabolism - 1 Feb 2002

Moseley Chanda T, Mullis Primus E, Prince Melissa A, Phillips John A

Abstract excerpt

Familial isolated GH deficiency type II (IGHD II) is caused, in some cases, by heterogeneous IVS3 mutations that affect GH mRNA splicing. We report here our finding an A-->G transition of the fifth base of exon 3 (E3+ 5 A-->G) in affected individuals from an IGHD II family. This mutation disrupts a (GAA)(n) exon splice enhancer (ESE) motif immediately following the weak IVS2 3' splice site. The mutation also...

Read the complete abstract on PubMed

Topics

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

Share to DNA Restriction Enzymes
Share to Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Human Growth Hormone

Share to Metabolic Diseases

Share to Point Mutation

Share to RNA Splicing

Source

Identifiers

PMID: 11836331
DOI: 10.1210/jcem.87.2.8236

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An exon splice enhancer mutation causes autosomal dominant GH deficiency.PMID 11836331Read ↗

GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA).Semantic proximity Read ↗

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.Semantic proximity Read ↗

Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.Semantic proximity Read ↗

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.Semantic proximity Read ↗

A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.Semantic proximity Read ↗

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.Semantic proximity Read ↗

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.Semantic proximity Read ↗

Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.Semantic proximity Read ↗

A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.Semantic proximity Read ↗

A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.Semantic proximity Read ↗

A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency.Semantic proximity Read ↗

Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis.Semantic proximity Read ↗

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