Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2: New Insights Into Synergistic Pathways Involved in Growth and Metabolism

OBJECTIVE: Digenic causes of human disease are rarely reported. Insulin via its receptor, which is encoded by INSR, plays a key role in both metabolic and growth signaling pathways. Heterozygous INSR mutations are the most common cause of monogenic insulin resistance. However, growth retardation is...

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Detalhes bibliográficos
Main Authors: Suliman, Sara G.I., Stanik, Juraj, McCulloch, Laura J., Wilson, Natalie, Edghill, Emma L., Misovicova, Nadezda, Gasperikova, Daniela, Sandrikova, Vilja, Elliott, Katherine S., Barak, Lubomir, Ellard, Sian, Volpi, Emanuela V., Klimes, Iwar, Gloyn, Anna L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Diabetes Association 2009
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2780873/
https://ncbi.nlm.nih.gov/pubmed/19720790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db09-0787
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