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Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling. / Raffan, E; Soos, M A; Rocha, N; Tuthill, A; Thomsen, Anni Rønfeldt; Hyden, C S; Gregory, J W; Hindmarsh, P; Dattani, M; Cochran, E; Al Kaabi, J; Gorden, P; Barroso, I; Morling, N; O'Rahilly, S; Semple, R K.
I:
Diabetologica, Bind 54, Nr. 5, 01.05.2011, s. 1057-65.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Raffan, E, Soos, MA, Rocha, N, Tuthill, A, Thomsen, AR, Hyden, CS, Gregory, JW, Hindmarsh, P, Dattani, M, Cochran, E, Al Kaabi, J, Gorden, P, Barroso, I
, Morling, N, O'Rahilly, S & Semple, RK 2011, '
Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling',
Diabetologica, bind 54, nr. 5, s. 1057-65.
https://doi.org/10.1007/s00125-011-2066-zAPA
Raffan, E., Soos, M. A., Rocha, N., Tuthill, A., Thomsen, A. R., Hyden, C. S., Gregory, J. W., Hindmarsh, P., Dattani, M., Cochran, E., Al Kaabi, J., Gorden, P., Barroso, I.
, Morling, N., O'Rahilly, S., & Semple, R. K. (2011).
Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.
Diabetologica,
54(5), 1057-65.
https://doi.org/10.1007/s00125-011-2066-zVancouver
Raffan E, Soos MA, Rocha N, Tuthill A, Thomsen AR, Hyden CS o.a.
Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.
Diabetologica. 2011 maj 1;54(5):1057-65.
https://doi.org/10.1007/s00125-011-2066-zAuthor
Raffan, E ; Soos, M A ; Rocha, N ; Tuthill, A ; Thomsen, Anni Rønfeldt ; Hyden, C S ; Gregory, J W ; Hindmarsh, P ; Dattani, M ; Cochran, E ; Al Kaabi, J ; Gorden, P ; Barroso, I ; Morling, N ; O'Rahilly, S ; Semple, R K. / Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling. I: Diabetologica. 2011 ; Bind 54, Nr. 5. s. 1057-65.
Bibtex
@article{bc9fed0d2d464934bf0cd6b62d4daa0d,
title = "Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling",
abstract = "Genetic insulin receptoropathies are a rare cause of severe insulin resistance. We identified the Ile119Met missense mutation in the insulin receptor INSR gene, previously reported in a Yemeni kindred, in four unrelated patients with Somali ancestry. We aimed to investigate a possible genetic founder effect, and to study the mechanism of loss of function of the mutant receptor.",
keywords = "Adult, Africa, Cells, Cultured, Child, Female, Haplotypes, Humans, Infant, Insulin Resistance, Male, Mutagenesis, Site-Directed, Mutation, Polymerase Chain Reaction, Protein Precursors, Receptor, Insulin, Young Adult",
author = "E Raffan and Soos, {M A} and N Rocha and A Tuthill and Thomsen, {Anni R{\o}nfeldt} and Hyden, {C S} and Gregory, {J W} and P Hindmarsh and M Dattani and E Cochran and {Al Kaabi}, J and P Gorden and I Barroso and N Morling and S O'Rahilly and Semple, {R K}",
year = "2011",
month = may,
day = "1",
doi = "10.1007/s00125-011-2066-z",
language = "English",
volume = "54",
pages = "1057--65",
journal = "Diabetologia",
issn = "0012-186X",
publisher = "Springer",
number = "5",
}
RIS
TY - JOUR
T1 - Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling
AU - Raffan, E
AU - Soos, M A
AU - Rocha, N
AU - Tuthill, A
AU - Thomsen, Anni Rønfeldt
AU - Hyden, C S
AU - Gregory, J W
AU - Hindmarsh, P
AU - Dattani, M
AU - Cochran, E
AU - Al Kaabi, J
AU - Gorden, P
AU - Barroso, I
AU - Morling, N
AU - O'Rahilly, S
AU - Semple, R K
PY - 2011/5/1
Y1 - 2011/5/1
N2 - Genetic insulin receptoropathies are a rare cause of severe insulin resistance. We identified the Ile119Met missense mutation in the insulin receptor INSR gene, previously reported in a Yemeni kindred, in four unrelated patients with Somali ancestry. We aimed to investigate a possible genetic founder effect, and to study the mechanism of loss of function of the mutant receptor.
AB - Genetic insulin receptoropathies are a rare cause of severe insulin resistance. We identified the Ile119Met missense mutation in the insulin receptor INSR gene, previously reported in a Yemeni kindred, in four unrelated patients with Somali ancestry. We aimed to investigate a possible genetic founder effect, and to study the mechanism of loss of function of the mutant receptor.
KW - Adult
KW - Africa
KW - Cells, Cultured
KW - Child
KW - Female
KW - Haplotypes
KW - Humans
KW - Infant
KW - Insulin Resistance
KW - Male
KW - Mutagenesis, Site-Directed
KW - Mutation
KW - Polymerase Chain Reaction
KW - Protein Precursors
KW - Receptor, Insulin
KW - Young Adult
U2 - 10.1007/s00125-011-2066-z
DO - 10.1007/s00125-011-2066-z
M3 - Journal article
C2 - 21318406
VL - 54
SP - 1057
EP - 1065
JO - Diabetologia
JF - Diabetologia
SN - 0012-186X
IS - 5
ER -
