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Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Protein tyrosine phosphatases, together with protein tyrosine kinases, control many molecular signaling steps that control life at cellular and organismal levels. Impairing alterations in the genes encoding the involved proteins is expected to profoundly affect the quality of life—if compatible with...

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Autores principales: Hendriks, Wiljan J. A. J., van Cruchten, Remco T. P., Pulido, Rafael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900141/
https://www.ncbi.nlm.nih.gov/pubmed/36755664
http://dx.doi.org/10.3389/fcell.2022.1051311
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author Hendriks, Wiljan J. A. J.
van Cruchten, Remco T. P.
Pulido, Rafael
author_facet Hendriks, Wiljan J. A. J.
van Cruchten, Remco T. P.
Pulido, Rafael
author_sort Hendriks, Wiljan J. A. J.
collection PubMed
description Protein tyrosine phosphatases, together with protein tyrosine kinases, control many molecular signaling steps that control life at cellular and organismal levels. Impairing alterations in the genes encoding the involved proteins is expected to profoundly affect the quality of life—if compatible with life at all. Here, we review the current knowledge on the effects of germline variants that have been reported for genes encoding a subset of the protein tyrosine phosphatase superfamily; that of the thirty seven classical members. The conclusion must be that the newest genome research tools produced an avalanche of data that suggest ‘guilt by association’ for individual genes to specific disorders. Future research should face the challenge to investigate these accusations thoroughly and convincingly, to reach a mature genotype-phenotype map for this intriguing protein family.
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spelling pubmed-99001412023-02-07 Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty? Hendriks, Wiljan J. A. J. van Cruchten, Remco T. P. Pulido, Rafael Front Cell Dev Biol Cell and Developmental Biology Protein tyrosine phosphatases, together with protein tyrosine kinases, control many molecular signaling steps that control life at cellular and organismal levels. Impairing alterations in the genes encoding the involved proteins is expected to profoundly affect the quality of life—if compatible with life at all. Here, we review the current knowledge on the effects of germline variants that have been reported for genes encoding a subset of the protein tyrosine phosphatase superfamily; that of the thirty seven classical members. The conclusion must be that the newest genome research tools produced an avalanche of data that suggest ‘guilt by association’ for individual genes to specific disorders. Future research should face the challenge to investigate these accusations thoroughly and convincingly, to reach a mature genotype-phenotype map for this intriguing protein family. Frontiers Media S.A. 2023-01-23 /pmc/articles/PMC9900141/ /pubmed/36755664 http://dx.doi.org/10.3389/fcell.2022.1051311 Text en Copyright © 2023 Hendriks, van Cruchten and Pulido. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cell and Developmental Biology
Hendriks, Wiljan J. A. J.
van Cruchten, Remco T. P.
Pulido, Rafael
Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
title Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
title_full Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
title_fullStr Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
title_full_unstemmed Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
title_short Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?
title_sort hereditable variants of classical protein tyrosine phosphatase genes: will they prove innocent or guilty?
topic Cell and Developmental Biology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900141/
https://www.ncbi.nlm.nih.gov/pubmed/36755664
http://dx.doi.org/10.3389/fcell.2022.1051311
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