Evidence map›Paper›PMID 7668251›Full record

ArticleAmerican journal of human genetics1995

Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.

J Stein, J B Mulliken, S Stal, D L Gasser, S Malcolm, R Winter, S H Blanton, C Amos, E Seemanova, J T Hecht

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
5.4field-weighted citation impact, top 4% 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

26 citing papers in PubMed, 114 citations in OpenAlex.

  1. Trial
  2. Unveiling the multifaceted roles of BCL3: biological functions and disease implications.Apoptosis : an international journal on programmed cell death · 2026
    Review
  3. Review
  4. Article
  5. Article
  6. A comprehensive review of the genetic basis of cleft lip and palate.Journal of oral and maxillofacial pathology : JOMFP · 2012
    Article
  7. Article
  8. Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.Birth defects research. Part A, Clinical and molecular teratology · 2011
    Article
  9. Article
  10. Article
  11. Article
  12. A genome wide linkage scan for cleft lip and palate and dental anomalies.American journal of medical genetics. Part A · 2008
    Article
  13. Article
  14. Genetics of cleft lip and palate : a review.The Malaysian journal of medical sciences : MJMS · 2007
    Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Molecular cloning and mapping of a novel developmentally regulated human C2H2-type zinc finger.Mammalian genome : official journal of the International Mammalian Genome Society · 1997
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 1 institution in 1 country.

J SteinUniversity of Texas Medical School at Houston 77225, USA.
J B Mulliken
S Stal
D L Gasser
S Malcolm
R Winter
S H Blanton
C Amos
E Seemanova
J T Hecht
Texas Medical Center · US

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8M
CRANIOFACIAL ANOMALIESP50DE009164 · NIDCR · UNIVERSITY OF PENNSYLVANIA · PI GASSER, DAVID L · 1989 to 1993
–
DNA LINKAGE STUDY OF CLEFT LIP AND PALATER29DE009954 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI HECHT, JACQUELINE T · 1991 to 1995
–
NCI NIH HHS CA16672NIDCR NIH HHS 5R29 DE09954-03NIDCR NIH HHS DE09164
6 · The paper itself

Abstract

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using an anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds only. Homogeneity testing on the two-point data gave evidence of heterogeneity at APOC2 under the affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities > = 50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families.

Indexed as

Genetic LinkageB-Cell Lymphoma 3 ProteinCleft LipCleft PalateFemaleHumansLod ScoreMalePedigreeProto-Oncogene MasProto-Oncogene ProteinsTranscription FactorsB-Cell Lymphoma 3 ProteinBCL3 protein, humanMAS1 protein, humanProto-Oncogene MasProto-Oncogene ProteinsTranscription Factors

Identifiers

PMID7668251
PMCPMC1801552
OpenAlexW105781282

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.