Evidence map›Paper›PMID 19769464›Full record

ReviewAntioxidants & redox signaling2010

The syndrome of inherited partial SBP2 deficiency in humans.

Alexandra M Dumitrescu, Caterina Di Cosmo, Xiao-Hui Liao, Roy E Weiss, Samuel Refetoff

Open access · greenAbstract readReview
In one paragraph

Review in Antioxidants & redox signaling, 2010. 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
3.3field-weighted citation impact, top 9% 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, 46 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Ribosome profiling of selenoproteinsThe Journal of biological chemistry · 2019
    Article
  10. Review
  11. Review
  12. Article
  13. Article
  14. Article
  15. Review
  16. Review
  17. Review
  18. Review
  19. Inherited defects of thyroid hormone metabolism.Annales d'endocrinologie · 2011
    Review
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.

Alexandra M DumitrescuDepartment of Medicine, University of Chicago Medical Center, Chicago, IL 60637, USA.
Caterina Di Cosmo
Xiao-Hui Liao
Roy E Weiss
Samuel Refetoff
University of Chicago · US

Funding

TRANSGENIC COREP60DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI BELL, GRAEME I · 1985 to 2012
$25.5M
THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR01DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI ANTONIO C BIANCO, Alexandra Mihaela Dumitrescu · 1986 to 2026
$8.1M
INTERGRATED CLINICAL AND BASIC ENDOCRINOLOGY RESEARCHT32DK007011 · NIDDK · UNIVERSITY OF CHICAGO · PI Raghavendra G Mirmira · 1986 to 2026
$5.8M
THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR37DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI REFETOFF, SAMUEL · 1989 to 2015
$5.6M
PURCHASING OF A GENETISCAN FOR AUTOMATED KARYOTYPINGS10RR004999 · NCRR · UNIVERSITY OF TEXAS MD ANDERSON CAN CTR · PI PATHAK, S · 1988 to 1988
–
NCRR NIH HHS RR 04999NIDDK NIH HHS DK 07011NIDDK NIH HHS DK 15070NIDDK NIH HHS DK 20595
6 · The paper itself

Abstract

Selenium (Se) is an essential trace element required for the biosynthesis of selenoproteins. Selenocysteine insertion sequence (SECIS) binding protein 2 (SBP2) represents a key trans-acting factor for the co-translational insertion of selenocysteine into selenoproteins. In 2005, we reported the first mutations in the SBP2 gene in two families in which the probands presented with transient growth retardation associated with abnormal thyroid function tests. Intracellular metabolism of thyroid hormone (TH) and availability of the active hormone, triiodothyronine, is regulated by three selenoprotein iodothyronine deiodinases (Ds). While acquired changes in D activities are common, inherited defects in humans were not known. Affected children were either homozygous or compound heterozygous for SBP2 mutations. Other selenoproteins, glutathione peroxidase, and selenoprotein P were also reduced in affected subjects. Since our initial report, another family manifesting a similar phenotype was found to harbor a novel SBP2 mutation. In vivo studies of these subjects have explored the effects of Se and TH supplementation. In vitro experiments have provided new insights into the effect of SBP2 mutations. In this review we discuss the clinical presentation of SBP2 mutations, their effect on protein function, consequence for selenoproteins, and the clinical course of subjects with SBP2 defects.

Indexed as

MutationRNA-Binding ProteinsSyndromeAdolescentAdultAnimalsCell LineChildDietary SupplementsFemaleHumansMaleMolecular StructurePedigreePhenotypePregnancyRNA-Binding ProteinsSECISBP2 protein, humanSeleniumThyroid Hormones

Identifiers

PMID19769464
PMCPMC2864657
OpenAlexW2012339923

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.