GATA6 haploinsufficiency causes pancreatic agenesis in humans
| العنوان: | GATA6 haploinsufficiency causes pancreatic agenesis in humans |
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| المؤلفون: | Allen, H.L., Flanagan, S.E., Shaw-Smith, C., Franco, E. De, Akerman, I., Caswell, R., Ferrer, J., Hattersley, A.T., Ellard, S., Aanstoot, H.J., Aberg, E., Adolfsson, P., Anthony, M., Batlle, M., Bruining, J, Bühr, P., Cummings, E., Edge, J., Garcia-Hurtado, J., Hathout, E., Ho, J., Jeffries, C., Temple, I.K., Kaufman, E., Kotori, V.M., Krijger, R. de, Kummer, M., Mackay, D., Mace, J., Noordam, C., O'Brien, F., Rubio-Cabezas, O., Shield, J., Skidmore, D., White, S., Zanier, U. |
| المصدر: | Nature Genetics, 44, 1, pp. 20-2 Nature Genetics, 44, 20-2 |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | endocrine system, 030209 endocrinology & metabolism, Haploinsufficiency, Biology, Bioinformatics, Article, 03 medical and health sciences, 0302 clinical medicine, GATA6 Transcription Factor, Rare mutations, Genetics, medicine, Humans, Pancreas, Transcription factor, 030304 developmental biology, 0303 health sciences, GATA6, Pancreatic agenesis, Phenotype, 3. Good health, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], PDX1 |
| الوصف: | Understanding the regulation of pancreatic development is key for efforts to develop new regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are of unknown origin. We report de novo heterozygous inactivating mutations in GATA6 in 15/27 (56%) individuals with pancreatic agenesis. These findings define the most common cause of human pancreatic agenesis and establish a key role for the transcription factor GATA6 in human pancreatic development. |
| تدمد: | 1061-4036 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f989bd681a94526bb868738e69f57eTest https://doi.org/10.1038/ng.1035Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....18f989bd681a94526bb868738e69f57e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10614036 |
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