Evidence map›Paper›PMID 8105683›Full record

ArticleAmerican journal of human genetics1993

Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO).

R Shiang, A C Lidral, H H Ardinger, K H Buetow, P A Romitti, R G Munger, J C Murray

Abstract read
In one paragraph

Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 2 pooled it
3.2field-weighted citation impact, top 8% 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

20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 83 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Environmental mechanisms of orofacial clefts.Birth defects research · 2020
    Review
  4. Review
  5. GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk.International journal of clinical and experimental medicine · 2015
    Article
  6. Article
  7. Article
  8. Genetics of nonsyndromic orofacial clefts.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2012
    Review
  9. Article
  10. Isolated cleft palate in mice with a targeted mutation of the LIM homeobox gene lhx8.Proceedings of the National Academy of Sciences of the United States of America · 1999
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Face facts: genes, environment, and clefts.American journal of human genetics · 1995
    Article
  18. Article
  19. Article
  20. 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

7 authors at 1 institution in 1 country.

R ShiangDepartment of Biological Chemistry, University of California, Irvine.
A C Lidral
H H Ardinger
K H Buetow
P A Romitti
R G Munger
J C Murray
University of California, Irvine · US

Funding

Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATER01DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 1988 to 2003
$1.5M
VIMENTIN EXPRESSION IN OSTEOBLASTS IN RESPONSE TO CYCLIC MECHANICAL STRAINK16DE000175 · NIDCR · UNIVERSITY OF IOWA · PI SQUIER, CHRISTOPHER · 1985 to 2003
$791k
TRANSGENIC MODELS OF CRANIOFACIAL DEVELOPMENT DISORDERSP50DE009170 · NIDCR · UNIVERSITY OF IOWA · PI LUFKIN, THOMAS C · 1989 to 1998
–
NIDCR NIH HHS DE08559NIDCR NIH HHS DE09170NIDCR NIH HHS K16DE00175
6 · The paper itself

Abstract

Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. We carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3' untranslated region of the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using chi 2 analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3' untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P.

Indexed as

Polymorphism, Restriction Fragment LengthAdolescentAdultBase SequenceChildChild, PreschoolCleft PalateDNA PrimersFemaleHumansInfantMaleMolecular Sequence DataRetrospective StudiesSequence AlignmentTransforming Growth Factor alphaDNA PrimersTransforming Growth Factor alpha

Identifiers

PMID8105683
PMCPMC1682388
OpenAlexW106713413

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.