ArticleThe Journal of clinical investigation1996
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
Article in The Journal of clinical investigation, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Pooled it
- In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.International journal of molecular sciences · 2020Article
- Rs1008805 polymorphism ofOncology letters · 2017Article
- Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of β-Thalassemic Patients.Iranian journal of biotechnology · 2016Article
- Prevalence of AIP mutations in a series of Turkish acromegalic patients: are synonymous AIP mutations relevant?Pituitary · 2015Article
- The CYP19 RS4646 polymorphism IS related to the prognosis of stage I-II and operable stage III breast cancer.PloS one · 2015Article
- Association of the mutation for the human carboxypeptidase E gene exon 4 with the severity of coronary artery atherosclerosis.Molecular biology reports · 2009Article
- Article
- Study of V1a vasopressin receptor gene single nucleotide polymorphisms in platelet vasopressin responsiveness.Journal of clinical laboratory analysis · 2006Article
- Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.Nucleic acids research · 2006Article
- The ratio of maternal to paternal UPD associated with recessive diseases.Human genetics · 2005Article
- Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.Human genetics · 2004Review
- Aberrant HS1 molecule in a patient with systemic lupus erythematosus.Genes and immunity · 2003Article
- Treatment of spinal muscular atrophy by sodium butyrate.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Demystified...adhesion molecule deficiencies.Molecular pathology : MP · 2001Review
- Integrin-dependent control of translation: engagement of integrin alphaIIbbeta3 regulates synthesis of proteins in activated human platelets.The Journal of cell biology · 1999Article
- Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.The Journal of clinical investigation · 1997Article
- Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex.The Journal of clinical investigation · 1997Article
- The regulation of splice-site selection, and its role in human disease.American journal of human genetics · 1997Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Glanzmann thrombasthenia (GT), an autosomal recessive bleeding disorder, results from abnormalities in the platelet fibrinogen receptor, GP(IIb)-IIIa (integrin alpha(IIb)beta3). A patient with GT was identified as homozygous for a G-->A mutation 6 bp upstream of the GP(IIIa) exon 9 splice donor site. Patient platelet GP(IIIa) transcripts lacked exon 9 despite normal DNA sequence in all of the cis-acting sequences known to regulate splice site selection. In vitro analysis of transcripts generated from mini-gene constructs demonstrated that exon skipping occurred only when the G-->A mutation was cis to a polymorphism 116 bp upstream, providing precedence that two sequence variations in the same exon which do not alter consensus splice sites and do not generate missense or nonsense mutations, can affect splice site selection. The mutant transcript resulted from utilization of a cryptic splice acceptor site and returned the open reading frame. These data support the hypothesis that pre-mRNA secondary structure and allelic sequence variants can influence splicing and provide new insight into the regulated control of RNA processing. In addition, haplotype analysis suggested that the patient has two identical copies of chromosome 17. Markers studied on three other chromosomes suggested this finding was not due to consanguinity. The restricted phenotype in this patient may provide information regarding the expression of potentially imprinted genes on chromosome 17.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.