Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes. Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating variants cause reduced penetrance MODY.
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Nature Portfolio
2017
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oai:doaj.org-article:c595b0f61500403db38923cfcb1308be2021-12-02T14:41:10ZHeterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance10.1038/s41467-017-00895-92041-1723https://doaj.org/article/c595b0f61500403db38923cfcb1308be2017-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-00895-9https://doaj.org/toc/2041-1723Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes. Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating variants cause reduced penetrance MODY.Kashyap A. PatelJarno KettunenMarkku LaaksoAlena StančákováThomas W. LaverKevin ColcloughMatthew B. JohnsonMarc AbramowiczLeif GroopPäivi J. MiettinenMaggie H. ShepherdSarah E. FlanaganSian EllardNobuya InagakiAndrew T. HattersleyTiinamaija TuomiMiriam CnopMichael N. WeedonNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-8 (2017) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Kashyap A. Patel Jarno Kettunen Markku Laakso Alena Stančáková Thomas W. Laver Kevin Colclough Matthew B. Johnson Marc Abramowicz Leif Groop Päivi J. Miettinen Maggie H. Shepherd Sarah E. Flanagan Sian Ellard Nobuya Inagaki Andrew T. Hattersley Tiinamaija Tuomi Miriam Cnop Michael N. Weedon Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance |
| description |
Maturity-onset diabetes of the young (MODY) is the most common subtype of familial diabetes. Here, Patel et al. use targeted DNA sequencing of MODY patients and large-scale publically available data to show that RFX6 heterozygous protein truncating variants cause reduced penetrance MODY. |
| format |
article |
| author |
Kashyap A. Patel Jarno Kettunen Markku Laakso Alena Stančáková Thomas W. Laver Kevin Colclough Matthew B. Johnson Marc Abramowicz Leif Groop Päivi J. Miettinen Maggie H. Shepherd Sarah E. Flanagan Sian Ellard Nobuya Inagaki Andrew T. Hattersley Tiinamaija Tuomi Miriam Cnop Michael N. Weedon |
| author_facet |
Kashyap A. Patel Jarno Kettunen Markku Laakso Alena Stančáková Thomas W. Laver Kevin Colclough Matthew B. Johnson Marc Abramowicz Leif Groop Päivi J. Miettinen Maggie H. Shepherd Sarah E. Flanagan Sian Ellard Nobuya Inagaki Andrew T. Hattersley Tiinamaija Tuomi Miriam Cnop Michael N. Weedon |
| author_sort |
Kashyap A. Patel |
| title |
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance |
| title_short |
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance |
| title_full |
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance |
| title_fullStr |
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance |
| title_full_unstemmed |
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance |
| title_sort |
heterozygous rfx6 protein truncating variants are associated with mody with reduced penetrance |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/c595b0f61500403db38923cfcb1308be |
| work_keys_str_mv |
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| _version_ |
1718390018832072704 |