Evidence map›Paper›PMID 26596371›Full record

ReviewHuman genomics2015

Update of the human and mouse Fanconi anemia genes.

Hongbin Dong, Daniel W Nebert, Elspeth A Bruford, David C Thompson, Hans Joenje, Vasilis Vasiliou

Open access · goldAbstract readReview
In one paragraph

Review in Human genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers.

0numbers the graph read from it
0cells of the map it votes in
88citing papers in PubMed
9.8field-weighted citation impact, top 1% 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

88 citing papers in PubMed, 166 citations in OpenAlex.

  1. Comparable Outcomes after HLA-Matched Sibling and Alternative Donor Hematopoietic Cell Transplantation for Children with Fanconi Anemia and Severe Aplastic Anemia.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2018
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  17. Post-hematopoietic stem cell transplant squamous cell carcinoma in patients with Fanconi anemia: a dreadful enemy.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2022
    Article
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28 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 5 institutions in 3 countries.

Hongbin DongDepartment of Environmental Health Sciences, Yale School of Public Health, 60 College St, New Haven, CT, 06250, USA.
Daniel W NebertDepartment of Environmental Health and Center for Environmental Genetics, University Cincinnati Medical Center, Cincinnati, OH, 45267-0056, USA.
Elspeth A BrufordHUGO Gene Nomenclature Committee (HGNC), European Bioinformatics Institute (EMBL-EBI), European Molecular Biology Laboratory, Hinxton, CB10 1SD, UK.
David C ThompsonDepartment of Clinical Practice, University of Colorado Denver, Aurora, CO, 80045, USA.
Hans JoenjeDepartment of Clinical Genetics and the Cancer Center Amsterdam/VUmc Institute for Cancer and Immunology, VU University Medical Center, NL-1081 BT, Amsterdam, The Netherlands.
Vasilis VasiliouDepartment of Environmental Health Sciences, Yale School of Public Health, 60 College St, New Haven, CT, 06250, USA. vasilis.vasiliou@yale.edu.
Yale University · USCancer Center AmsterdamEuropean Bioinformatics Institute · GBUniversity of Cincinnati · USUniversity of Colorado Denver · US

Funding

REPRODUCTIVE AND DEVELOPMENTAL TOXICOLOGY RESEARCHP30ES006096 · NIEHS · UNIVERSITY OF CINCINNATI · PI PINNEY, SUSAN MENGEL · 1992 to 2022
$35.4M
Mouse Models for Alcohol Metabolism and Tissue InjuryR24AA022057 · NIAAA · YALE UNIVERSITY · PI VASILIOU, VASILIS · 2013 to 2022
$4.5M
Nomenclature of Human and Vertebrate GenesU41HG003345 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI BIRNEY, EWAN, BRUFORD, ELSPETH · 2013 to 2017
$2.4M
The role of ALDH1B1 in ethanol metabolism and colon cancerU01AA021724 · NIAAA · YALE UNIVERSITY · PI VASILIOU, VASILIS · 2014 to 2017
$1.7M
The role of ALDH1B1 in ethanol metabolism and colon cancerR01AA021724 · NIAAA · YALE UNIVERSITY · PI VASILIOU, VASILIS · 2018 to 2018
$397k
NHGRI NIH HHS U41 HG003345NHGRI NIH HHS U41HG003345NIAAA NIH HHS AA021724NIAAA NIH HHS AA022057NIAAA NIH HHS R01 AA021724NIAAA NIH HHS R24 AA022057NIAAA NIH HHS U01 AA021724NIEHS NIH HHS P30 ES006096Wellcome TrustWellcome Trust 099129/Z/12/Z
6 · The paper itself

Abstract

Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in the last 20 years have increasing numbers of genes been implicated in the pathogenesis associated with this genetic disease. To date, 19 genes have been identified that encode Fanconi anemia complementation group proteins, all of which are named or aliased, using the root symbol "FANC." Fanconi anemia subtype (FANC) proteins function in a common DNA repair pathway called "the FA pathway," which is essential for maintaining genomic integrity. The various FANC mutant proteins contribute to distinct steps associated with FA pathogenesis. Herein, we provide a review update of the 19 human FANC and their mouse orthologs, an evolutionary perspective on the FANC genes, and the functional significance of the FA DNA repair pathway in association with clinical disorders. This is an example of a set of genes--known to exist in vertebrates, invertebrates, plants, and yeast--that are grouped together on the basis of shared biochemical and physiological functions, rather than evolutionary phylogeny, and have been named on this basis by the HUGO Gene Nomenclature Committee (HGNC).

Indexed as

AnimalsBone MarrowDNA DamageDNA RepairEvolution, MolecularFanconi AnemiaFanconi Anemia Complementation Group ProteinsHumansMiceNeoplasmsFanconi Anemia Complementation Group Proteins

Identifiers

PMID26596371
PMCPMC4657327
OpenAlexW2179672927

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.