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Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite D, Kofent J, Gong M, Rüschendorf F, Jia S, Arn P, Bentler K, Ellaway C, Kühnen P, Hoffmann GF, Blau N, Spagnoli FM, Hübner N, Raile K. Simaite D, et al. Among authors: raile k. Diabetes. 2014 Oct;63(10):3557-64. doi: 10.2337/db13-1784. Epub 2014 May 21. Diabetes. 2014. PMID: 24848070 Free article.
Investigation of Naturally Occurring Single-Nucleotide Variants in Human TAAR1.
Mühlhaus J, Dinter J, Jyrch S, Teumer A, Jacobi SF, Homuth G, Kühnen P, Wiegand S, Grüters A, Völzke H, Raile K, Kleinau G, Krude H, Biebermann H. Mühlhaus J, et al. Among authors: raile k. Front Pharmacol. 2017 Nov 24;8:807. doi: 10.3389/fphar.2017.00807. eCollection 2017. Front Pharmacol. 2017. PMID: 29225575 Free PMC article.
HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion.
Gong M, Yu Y, Liang L, Vuralli D, Froehler S, Kuehnen P, Du Bois P, Zhang J, Cao A, Liu Y, Hussain K, Fielitz J, Jia S, Chen W, Raile K. Gong M, et al. Among authors: raile k. Mol Genet Genomic Med. 2019 May;7(5):e602. doi: 10.1002/mgg3.602. Epub 2019 Apr 9. Mol Genet Genomic Med. 2019. PMID: 30968599 Free PMC article.
105 results