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Prioritization of putatively detrimental variants in euploid miscarriages
Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed...
| Autores principales: | , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821623/ https://www.ncbi.nlm.nih.gov/pubmed/35132093 http://dx.doi.org/10.1038/s41598-022-05737-3 |
| _version_ | 1784646439468531712 |
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| author | Buonaiuto, Silvia Biase, Immacolata Di Aleotti, Valentina Ravaei, Amin Marino, Adriano De Damaggio, Gianluca Chierici, Marco Pulijala, Madhuri D’Ambrosio, Palmira Esposito, Gabriella Ayub, Qasim Furlanello, Cesare Greco, Pantaleo Capalbo, Antonio Rubini, Michele Biase, Sebastiano Di Colonna, Vincenza |
| author_facet | Buonaiuto, Silvia Biase, Immacolata Di Aleotti, Valentina Ravaei, Amin Marino, Adriano De Damaggio, Gianluca Chierici, Marco Pulijala, Madhuri D’Ambrosio, Palmira Esposito, Gabriella Ayub, Qasim Furlanello, Cesare Greco, Pantaleo Capalbo, Antonio Rubini, Michele Biase, Sebastiano Di Colonna, Vincenza |
| author_sort | Buonaiuto, Silvia |
| collection | PubMed |
| description | Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed gp , a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages. |
| format | Online Article Text |
| id | pubmed-8821623 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-88216232022-02-09 Prioritization of putatively detrimental variants in euploid miscarriages Buonaiuto, Silvia Biase, Immacolata Di Aleotti, Valentina Ravaei, Amin Marino, Adriano De Damaggio, Gianluca Chierici, Marco Pulijala, Madhuri D’Ambrosio, Palmira Esposito, Gabriella Ayub, Qasim Furlanello, Cesare Greco, Pantaleo Capalbo, Antonio Rubini, Michele Biase, Sebastiano Di Colonna, Vincenza Sci Rep Article Miscarriage is the spontaneous termination of a pregnancy before 24 weeks of gestation. We studied the genome of euploid miscarried embryos from mothers in the range of healthy adult individuals to understand genetic susceptibility to miscarriage not caused by chromosomal aneuploidies. We developed gp , a pipeline that we used to prioritize 439 unique variants in 399 genes, including genes known to be associated with miscarriages. Among the prioritized genes we found STAG2 coding for the cohesin complex subunit, for which inactivation in mouse is lethal, and TLE4 a target of Notch and Wnt, physically interacting with a region on chromosome 9 associated to miscarriages. Nature Publishing Group UK 2022-02-07 /pmc/articles/PMC8821623/ /pubmed/35132093 http://dx.doi.org/10.1038/s41598-022-05737-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Article Buonaiuto, Silvia Biase, Immacolata Di Aleotti, Valentina Ravaei, Amin Marino, Adriano De Damaggio, Gianluca Chierici, Marco Pulijala, Madhuri D’Ambrosio, Palmira Esposito, Gabriella Ayub, Qasim Furlanello, Cesare Greco, Pantaleo Capalbo, Antonio Rubini, Michele Biase, Sebastiano Di Colonna, Vincenza Prioritization of putatively detrimental variants in euploid miscarriages |
| title | Prioritization of putatively detrimental variants in euploid miscarriages |
| title_full | Prioritization of putatively detrimental variants in euploid miscarriages |
| title_fullStr | Prioritization of putatively detrimental variants in euploid miscarriages |
| title_full_unstemmed | Prioritization of putatively detrimental variants in euploid miscarriages |
| title_short | Prioritization of putatively detrimental variants in euploid miscarriages |
| title_sort | prioritization of putatively detrimental variants in euploid miscarriages |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821623/ https://www.ncbi.nlm.nih.gov/pubmed/35132093 http://dx.doi.org/10.1038/s41598-022-05737-3 |
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