Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor

Nicholas Kaplowitz; Richard W. Furlanetto

doi:10.1046/j.1365-2265.1996.d01-1548.x

Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor

Clinical Endocrinology ◽

10.1046/j.1365-2265.1996.d01-1548.x ◽

1996 ◽

Vol 45 (2) ◽

pp. 229-235 ◽

Cited By ~ 20

Author(s):

Nicholas Kaplowitz ◽

Richard W. Furlanetto

Keyword(s):

Insulin Resistance ◽

Growth Factor ◽

Insulin Receptor ◽

Nonsense Mutation ◽

Receptor Gene ◽

Growth Factor Receptor ◽

Insulin Like Growth Factor ◽

Insulin Receptor Gene ◽

Homozygous Nonsense Mutation

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Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism

The Lancet ◽

10.1016/0140-6736(93)91820-c ◽

1993 ◽

Vol 342 (8866) ◽

pp. 277-278 ◽

Cited By ~ 56

Author(s):

A. Krook ◽

S. O'Rahilly ◽

L. Brueton

Keyword(s):

Insulin Receptor ◽

Nonsense Mutation ◽

Receptor Gene ◽

Insulin Receptor Gene ◽

Homozygous Nonsense Mutation

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Leprechaunism and homozygous nonsense mutation In the insulin receptor gene

The Lancet ◽

10.1016/0140-6736(93)91970-w ◽

1993 ◽

Vol 342 (8876) ◽

pp. 924 ◽

Cited By ~ 26

Author(s):

Helen Psiachou ◽

Sally Mitton ◽

J Alaghband-Zadeh ◽

Jennifer Hone ◽

SimeonI Taylor ◽

...

Keyword(s):

Insulin Receptor ◽

Nonsense Mutation ◽

Receptor Gene ◽

Insulin Receptor Gene ◽

Homozygous Nonsense Mutation

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An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome

Diabetologia ◽

10.1007/bf00401062 ◽

1993 ◽

Vol 36 (11) ◽

pp. 1168-1174 ◽

Cited By ~ 15

Author(s):

D. Müller-Wieland ◽

E. R. van der Vorm ◽

R. Streicher ◽

W. Krone ◽

E. Seemanova ◽

...

Keyword(s):

Insulin Resistance ◽

Insulin Receptor ◽

Nonsense Mutation ◽

Receptor Gene ◽

Insulin Receptor Gene ◽

Exon 2 ◽

Severe Insulin Resistance

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Dominant Transmission of Insulin Resistance in a Type A Family Resulting From a Heterozygous Nonsense Mutation in the Insulin Receptor Gene and Associated With Decreased mRNA Level and Insulin Binding Sites

Diabetes ◽

10.2337/diab.46.11.1901 ◽

1997 ◽

Vol 46 (11) ◽

pp. 1901-1903 ◽

Cited By ~ 5

Author(s):

J. Magre ◽

C. Karayanni ◽

C. G. Hadjiathanasiou ◽

C. Desbois-Mouthon ◽

M. Meier ◽

...

Keyword(s):

Insulin Resistance ◽

Insulin Receptor ◽

Binding Sites ◽

Nonsense Mutation ◽

Receptor Gene ◽

Mrna Level ◽

Type A ◽

Insulin Binding ◽

Insulin Receptor Gene

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The role of insulin receptor and insulin-like growth factor I receptor in pancreatic ductal adenocarcinoma

Zeitschrift für Gastroenterologie ◽

10.1055/s-0033-1352845 ◽

2013 ◽

Vol 51 (08) ◽

Author(s):

E Kalideris ◽

B Grüner ◽

M Trajkovic-Arsic ◽

P Mazur ◽

RM Schmid ◽

...

Keyword(s):

Growth Factor ◽

Insulin Receptor ◽

Pancreatic Ductal Adenocarcinoma ◽

Ductal Adenocarcinoma ◽

Insulin Like Growth Factor ◽

Factor I ◽

Growth Factor I

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Lilly Lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations in the insulin-receptor gene

Diabetes ◽

10.2337/diabetes.41.11.1473 ◽

1992 ◽

Vol 41 (11) ◽

pp. 1473-1490 ◽

Cited By ~ 88

Author(s):

S. I. Taylor

Keyword(s):

Insulin Resistance ◽

Insulin Receptor ◽

Molecular Mechanisms ◽

Receptor Gene ◽

Insulin Receptor Gene

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Absence of renal enlargement in fructose-fed proximal-tubule-select insulin receptor (IR), insulin-like-growth factor receptor (IGF1R) double knockout mice

Physiological Reports ◽

10.14814/phy2.13052 ◽

2016 ◽

Vol 4 (23) ◽

pp. e13052 ◽

Cited By ~ 2

Author(s):

Lijun Li ◽

Marcus Byrd ◽

Kwame Doh ◽

Patrice D. Dixon ◽

Hwal Lee ◽

...

Keyword(s):

Growth Factor ◽

Proximal Tubule ◽

Insulin Receptor ◽

Knockout Mice ◽

Growth Factor Receptor ◽

Insulin Like Growth Factor ◽

Double Knockout ◽

Renal Enlargement

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Mutations in the Insulin Receptor Gene in Patients with Genetic Syndromes of Insulin Resistance

Advances in Experimental Medicine and Biology - Molecular Biology and Physiology of Insulin and Insulin-Like Growth Factors ◽

10.1007/978-1-4684-5949-4_19 ◽

1991 ◽

pp. 197-213 ◽

Cited By ~ 7

Author(s):

Simeon I. Taylor ◽

Domenico Accili ◽

Alessandro Cama ◽

Hiroko Kadowaki ◽

Takashi Kadowaki ◽

...

Keyword(s):

Insulin Resistance ◽

Insulin Receptor ◽

Receptor Gene ◽

Genetic Syndromes ◽

Insulin Receptor Gene

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Secretion of Annexin II via Activation of Insulin Receptor and Insulin-like Growth Factor Receptor

Journal of Biological Chemistry ◽

10.1074/jbc.m210545200 ◽

2002 ◽

Vol 278 (6) ◽

pp. 4205-4215 ◽

Cited By ~ 36

Author(s):

Wei-Qin Zhao ◽

Gina H. Chen ◽

Hui Chen ◽

Alessia Pascale ◽

Lakshmi Ravindranath ◽

...

Keyword(s):

Growth Factor ◽

Insulin Receptor ◽

Growth Factor Receptor ◽

Annexin Ii ◽

Insulin Like Growth Factor

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Lilly Lecture: Molecular Mechanisms of Insulin Resistance: Lessons From Patients With Mutations in the Insulin-Receptor Gene

Diabetes ◽

10.2337/diab.41.11.1473 ◽

1992 ◽

Vol 41 (11) ◽

pp. 1473-1490 ◽

Cited By ~ 148

Author(s):

S. I. Taylor

Keyword(s):

Insulin Resistance ◽

Insulin Receptor ◽

Molecular Mechanisms ◽

Receptor Gene ◽

Insulin Receptor Gene

Download Full-text