Evidence map›Paper›PMID 2107739›Full record

ArticleAmerican journal of human genetics1990

A splice-junction mutation responsible for familial apolipoprotein A-II deficiency.

S S Deeb, K Takata, R L Peng, G Kajiyama, J J Albers

Abstract read
In one paragraph

Article in American journal of human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.1field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 98 citations in OpenAlex.

  1. Trial
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  6. Association between theBiomedicines · 2020
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  7. Review
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  10. Apolipoprotein A-II: still second fiddle in high-density lipoprotein metabolism?Arteriosclerosis, thrombosis, and vascular biology · 2013
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  18. Evidence for linkage of the apolipoprotein A-II locus to plasma apolipoprotein A-II and free fatty acid levels in mice and humans.Proceedings of the National Academy of Sciences of the United States of America · 1993
    Article
  19. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

S S DeebDepartment of Medicine, University of Washington School of Medicine, Seattle 98195.
K Takata
R L Peng
G Kajiyama
J J Albers
University of Washington · US

Funding

Serum Amyloid and Inflammation in AtherogenesisP01HL030086 · NHLBI · UNIVERSITY OF WASHINGTON · PI HEINECKE, JAY W · 1985 to 2009
$14.7M
SUPPORT FOR STUDY OF INHERITED DISEASESP50GM015253 · NIGMS · UNIVERSITY OF WASHINGTON · PI STAMATOYANNOPOULOS, GEORGE · 1985 to 1988
–
NHLBI NIH HHS HL 30086NIGMS NIH HHS GM 15253
6 · The paper itself

Abstract

The first case of familial apolipoprotein A-II (apo A-II) deficiency was recently reported from Hiroshima, Japan, and designated apo A-IIHiroshima. The proband had no immunologically detectable apo A-II in her plasma. DNA sequence analysis showed that the proband was homozygous for a G----A transition at position 1 of intron 3 of the apo A-II gene. A sister of the proband, who had an intermediate level of plasma apo AII, was shown to be heterozygous for this base substitution. This splice-junction alteration is most likely responsible for apo A-II deficiency, since it would be expected to completely block splicing of intron 3 from the primary transcript and therefore prevent formation of functional mRNA. This deficiency seems to have little influence either on lipid and lipoprotein profiles or on the occurrence of coronary artery disease.

Indexed as

MutationRNA SplicingApolipoprotein A-IIApolipoproteins ABase SequenceDNAFemaleHumansLipoproteins, HDLMaleMolecular Sequence DataOligonucleotide ProbesPedigreePolymerase Chain ReactionApolipoprotein A-IIApolipoproteins ADNALipoproteins, HDLOligonucleotide Probes

Identifiers

PMID2107739
PMCPMC1683675
OpenAlexW1586947911

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.