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Article

Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically.

The Journal of biological chemistry - 29 Aug 2008

Solis Amanda S, Peng Rui, Crawford J Barrett, Phillips John A, Patton James G

Abstract excerpt

The majority of mutations that cause isolated growth hormone deficiency type II are the result of aberrant splicing of transcripts encoding human growth hormone. Such mutations increase skipping of exon 3 and encode a 17.5-kDa protein that acts as a dominant negative to block secretion of full-length protein produced from unaffected alleles. Previously, we identified a splicing regulatory element in exon 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18586677
DOI: 10.1074/jbc.M710175200
PMCID: PMC2527097

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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.

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Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically.PMID 18586677Read ↗

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 ↗

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

An exon splice enhancer mutation causes autosomal dominant GH deficiency.Semantic proximity Read ↗

Arginine/serine repeats are sufficient to constitute a splicing activation domain.Semantic proximity Read ↗

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.Semantic proximity Read ↗

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