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Impact on the Sustainable Development Goals (SDGs)

Analysis of institutional authors

Madero López, LuisAuthorFiguera Alvarez, AngelaAuthor

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Article

Origin, functional role, and clinical impact of fanconi anemia fanca mutations

Publicated to:BLOOD. 117 (14): 3759-3769 - 2011-04-07 117(14), DOI: 10.1182/blood-2010-08-299917

Authors: Castella M., Pujol R., Callén E., Trujillo J.P., Casado J.A., Gille H., Lach F.P., Auerbach A.D., Schindler D., Benítez J., Porto B., Ferro T., Arturo M., Sevilla J., Madero L., Cela E., Beléndez C., De Heredia C.D., Olivé T., De Toledo J.S., Badell I., Torrent M., Estella J., Dasí A., Rodríguez-Villa A., Gémez P., Barbot J., Tapia M., Molinés A., Figuera A., Bueren J.A., Surrallés J.

Affiliations

Amsterdam UMC - Vrije Universiteit Amsterdam - Author
Centro Nacional de Investigaciones Oncológicas - Author
CSIC - Centro de Investigaciones Biologicas (CIB) - Author
Hematology Service Hospital General de La Palma - Author
Hospital Central Especializado de Criancas Maria Pia - Author
Hospital de la Santa Creu i Sant Pau - Author
Hospital General Universitario Gregorio Marañón - Author
Hospital Infantil Universitario Niño Jesús de Madrid - Author
Hospital Materno Infantil de Las Palmas de Gran Canaria - Author
Hospital Materno-Infantil Vall d' Hebron - Author
Hospital Ramén y Cajal - Author
Hospital Universitario de la Princesa - Author
Hospital Universitario Reina Sofía - Author
Instituto de Salud Carlos III - Author
Julius-Maximilians-Universitat Wurzburg - Author
Rockefeller University - Author
universidade do porto - Author
Universitat Autònoma de Barcelona - Author
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Abstract

Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these mutations were further characterized for their distribution in populations, mode of emergence, or functional consequences at cellular and clinical level. The world most frequent FANCA mutation is not the result of a mutational hot-spot but results from worldwide dissemination of an ancestral Indo-European mutation. We provide molecular evidence that total absence of FANCA in humans does not reduce embryonic viability, as the observed frequency of mutation carriers in the Gypsy population equals the expected by Hardy-Weinberg equilibrium. We also prove that long distance Alu-Alu recombination can cause Fanconi anemia by originating large interstitial deletions involving FANCA and 2 adjacent genes. Finally, we show that all missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. This may explain the observed lack of correlation between type of FANCA mutation and cellular phenotype or clinical severity in terms of age of onset of hematologic disease or number of malformations.

Keywords

Good health and well-being

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal BLOOD due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2011, it was in position 2/68, thus managing to position itself as a Q1 (Primer Cuartil), in the category Hematology.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 9.15, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-15, the following number of citations:

  • WoS: 103
  • Scopus: 109
  • Europe PMC: 77
  • Open Alex: 122
  • OpenCitations: 112

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-15:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 161.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 161 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 3.

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
Continuing with the social impact of the work, it is important to emphasize that, due to its content, it can be assigned to the area of interest of ODS 3 - Ensure healthy lives and promote well-being for all at all ages, with a probability of 70% according to the mBERT algorithm developed by Aurora University.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Netherlands; Portugal; United States of America.