New Results
Heterozygous RFX6 protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance
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
doi: https://doi.org/10.1101/101881
Kashyap A Patel
1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Jarno Kettunen
2University of Helsinki, Helsinki, Finland
Markku Laakso
3Department of Medicine, Kuopio University Hospital, Kuopio, Finland
4Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland
Alena Stančáková
4Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland
Thomas W Laver
1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Kevin Colclough
5Dept. of Molecular Genetics, Royal Devon and Exeter National Health Service Foundation Trust
Matthew B. Johnson
1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Marc Abramowicz
6IRIBHM, Université Libre de Bruxelles, Brussels, Belgium, and Genetics Department,Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium
Leif Groop
2University of Helsinki, Helsinki, Finland
7Lund University Diabetes Centre, Department of Clinical Sciences Malmö, Lund University, Skåne University Hospital, SE-20502 Malmo, Sweden
10Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
Päivi J. Miettinen
8Children’s Hospital, University of Helsinki, and Helsinki University Hospital, and Research Programs Unit, Molecular Neurology and Biomedicum Stem Cell Centre, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland
Maggie H Shepherd
1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Sarah E Flanagan
1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Sian Ellard
1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Nobuya Inagaki
9Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine,
Kyoto University, Kyoto, Japan
Andrew T Hattersley
1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Tiinamaija Tuomi
2University of Helsinki, Helsinki, Finland
10Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
Miriam Cnop
11ULB Center for Diabetes Research, Faculty of Medicine, Université Libre de Bruxelles, Brussels, Belgium
12Division of Endocrinology, Erasmus Hospital, Université Libre de Bruxelles, Brussels, Belgium
Michael N Weedon
1Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Posted July 14, 2017.
Heterozygous RFX6 protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance
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
bioRxiv 101881; doi: https://doi.org/10.1101/101881
Heterozygous RFX6 protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance
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
bioRxiv 101881; doi: https://doi.org/10.1101/101881
Subject Area
Subject Areas
- Biochemistry (11752)
- Bioengineering (8752)
- Bioinformatics (29200)
- Biophysics (14974)
- Cancer Biology (12096)
- Cell Biology (17411)
- Clinical Trials (138)
- Developmental Biology (9421)
- Ecology (14182)
- Epidemiology (2067)
- Evolutionary Biology (18308)
- Genetics (12245)
- Genomics (16803)
- Immunology (11869)
- Microbiology (28097)
- Molecular Biology (11594)
- Neuroscience (60969)
- Paleontology (451)
- Pathology (1871)
- Pharmacology and Toxicology (3238)
- Physiology (4959)
- Plant Biology (10427)
- Synthetic Biology (2886)
- Systems Biology (7340)
- Zoology (1651)