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Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes. / Bonnefond, A; Yengo, L; Philippe, J; Dechaume, A; Ezzidi, I; Vaillant, E; Gjesing, A P; Andersson, E A; Czernichow, S; Hercberg, S; Hadjadj, S; Charpentier, G; Lantieri, O; Balkau, B; Marre, M; Pedersen, O; Hansen, T; Froguel, P; Vaxillaire, M.
In:
Diabetologia, Vol. 56, No. 3, 03.2013, p. 492-496.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Bonnefond, A, Yengo, L, Philippe, J, Dechaume, A, Ezzidi, I, Vaillant, E, Gjesing, AP, Andersson, EA, Czernichow, S, Hercberg, S, Hadjadj, S, Charpentier, G, Lantieri, O, Balkau, B, Marre, M
, Pedersen, O, Hansen, T, Froguel, P & Vaxillaire, M 2013, '
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes',
Diabetologia, vol. 56, no. 3, pp. 492-496.
https://doi.org/10.1007/s00125-012-2794-8APA
Bonnefond, A., Yengo, L., Philippe, J., Dechaume, A., Ezzidi, I., Vaillant, E., Gjesing, A. P., Andersson, E. A., Czernichow, S., Hercberg, S., Hadjadj, S., Charpentier, G., Lantieri, O., Balkau, B., Marre, M.
, Pedersen, O., Hansen, T., Froguel, P., & Vaxillaire, M. (2013).
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.
Diabetologia,
56(3), 492-496.
https://doi.org/10.1007/s00125-012-2794-8Vancouver
Bonnefond A, Yengo L, Philippe J, Dechaume A, Ezzidi I, Vaillant E et al.
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.
Diabetologia. 2013 Mar;56(3):492-496.
https://doi.org/10.1007/s00125-012-2794-8Author
Bonnefond, A ; Yengo, L ; Philippe, J ; Dechaume, A ; Ezzidi, I ; Vaillant, E ; Gjesing, A P ; Andersson, E A ; Czernichow, S ; Hercberg, S ; Hadjadj, S ; Charpentier, G ; Lantieri, O ; Balkau, B ; Marre, M ; Pedersen, O ; Hansen, T ; Froguel, P ; Vaxillaire, M. / Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes. In: Diabetologia. 2013 ; Vol. 56, No. 3. pp. 492-496.
Bibtex
@article{d76b0c48c56e44c1b4387ba86f89599a,
title = "Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes",
abstract = "MODY is believed to be caused by at least 13 different genes. Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families. The p.A71T mutation was shown to abolish the enhancing effect of BLK on insulin content and secretion from pancreatic beta cell lines. Here, we reassessed the contribution of BLK to MODY and tested the effect of BLK-p.A71T on type 2 diabetes risk and variations in related traits.",
author = "A Bonnefond and L Yengo and J Philippe and A Dechaume and I Ezzidi and E Vaillant and Gjesing, {A P} and Andersson, {E A} and S Czernichow and S Hercberg and S Hadjadj and G Charpentier and O Lantieri and B Balkau and M Marre and O Pedersen and T Hansen and P Froguel and M Vaxillaire",
year = "2013",
month = mar,
doi = "10.1007/s00125-012-2794-8",
language = "English",
volume = "56",
pages = "492--496",
journal = "Diabetologia",
issn = "0012-186X",
publisher = "Springer",
number = "3",
}
RIS
TY - JOUR
T1 - Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes
AU - Bonnefond, A
AU - Yengo, L
AU - Philippe, J
AU - Dechaume, A
AU - Ezzidi, I
AU - Vaillant, E
AU - Gjesing, A P
AU - Andersson, E A
AU - Czernichow, S
AU - Hercberg, S
AU - Hadjadj, S
AU - Charpentier, G
AU - Lantieri, O
AU - Balkau, B
AU - Marre, M
AU - Pedersen, O
AU - Hansen, T
AU - Froguel, P
AU - Vaxillaire, M
PY - 2013/3
Y1 - 2013/3
N2 - MODY is believed to be caused by at least 13 different genes. Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families. The p.A71T mutation was shown to abolish the enhancing effect of BLK on insulin content and secretion from pancreatic beta cell lines. Here, we reassessed the contribution of BLK to MODY and tested the effect of BLK-p.A71T on type 2 diabetes risk and variations in related traits.
AB - MODY is believed to be caused by at least 13 different genes. Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families. The p.A71T mutation was shown to abolish the enhancing effect of BLK on insulin content and secretion from pancreatic beta cell lines. Here, we reassessed the contribution of BLK to MODY and tested the effect of BLK-p.A71T on type 2 diabetes risk and variations in related traits.
U2 - 10.1007/s00125-012-2794-8
DO - 10.1007/s00125-012-2794-8
M3 - Journal article
C2 - 23224494
VL - 56
SP - 492
EP - 496
JO - Diabetologia
JF - Diabetologia
SN - 0012-186X
IS - 3
ER -
