SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia and amelogenesis imperfecta that disrupt GAG s...
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2018
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oai:doaj.org-article:8bfb274a0fb7436e88718ddd08909e662021-12-02T17:32:48ZSLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects10.1038/s41467-018-05191-82041-1723https://doaj.org/article/8bfb274a0fb7436e88718ddd08909e662018-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-05191-8https://doaj.org/toc/2041-1723The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia and amelogenesis imperfecta that disrupt GAG synthesis.Johanne DubailCéline HuberSandrine ChantepieStephan SonntagBeyhan TüysüzErcan MihciChristopher T. GordonElisabeth Steichen-GersdorfJeanne AmielBanu NurIrene Stolte-DijkstraAlbertien M. van EerdeKoen L. van GassenCorstiaan C. BreugemAlexander StegmannCaroline LekszasReza MaroofianEhsan Ghayoor KarimianiArnaud BruneelNathalie SetaArnold MunnichDulce Papy-GarciaMuriel De La Dure-MollaValérie Cormier-DaireNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-15 (2018) |
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DOAJ |
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EN |
| topic |
Science Q |
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Science Q Johanne Dubail Céline Huber Sandrine Chantepie Stephan Sonntag Beyhan Tüysüz Ercan Mihci Christopher T. Gordon Elisabeth Steichen-Gersdorf Jeanne Amiel Banu Nur Irene Stolte-Dijkstra Albertien M. van Eerde Koen L. van Gassen Corstiaan C. Breugem Alexander Stegmann Caroline Lekszas Reza Maroofian Ehsan Ghayoor Karimiani Arnaud Bruneel Nathalie Seta Arnold Munnich Dulce Papy-Garcia Muriel De La Dure-Molla Valérie Cormier-Daire SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects |
| description |
The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia and amelogenesis imperfecta that disrupt GAG synthesis. |
| format |
article |
| author |
Johanne Dubail Céline Huber Sandrine Chantepie Stephan Sonntag Beyhan Tüysüz Ercan Mihci Christopher T. Gordon Elisabeth Steichen-Gersdorf Jeanne Amiel Banu Nur Irene Stolte-Dijkstra Albertien M. van Eerde Koen L. van Gassen Corstiaan C. Breugem Alexander Stegmann Caroline Lekszas Reza Maroofian Ehsan Ghayoor Karimiani Arnaud Bruneel Nathalie Seta Arnold Munnich Dulce Papy-Garcia Muriel De La Dure-Molla Valérie Cormier-Daire |
| author_facet |
Johanne Dubail Céline Huber Sandrine Chantepie Stephan Sonntag Beyhan Tüysüz Ercan Mihci Christopher T. Gordon Elisabeth Steichen-Gersdorf Jeanne Amiel Banu Nur Irene Stolte-Dijkstra Albertien M. van Eerde Koen L. van Gassen Corstiaan C. Breugem Alexander Stegmann Caroline Lekszas Reza Maroofian Ehsan Ghayoor Karimiani Arnaud Bruneel Nathalie Seta Arnold Munnich Dulce Papy-Garcia Muriel De La Dure-Molla Valérie Cormier-Daire |
| author_sort |
Johanne Dubail |
| title |
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects |
| title_short |
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects |
| title_full |
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects |
| title_fullStr |
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects |
| title_full_unstemmed |
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects |
| title_sort |
slc10a7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by gag biosynthesis defects |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/8bfb274a0fb7436e88718ddd08909e66 |
| work_keys_str_mv |
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