S. O'Rahilly

发表

An Activating Mutation of AKT2 and Human Hypoglycemia

I. Barroso, F. Payne, D. Savage, 2011, Science.

Functional characterization of a novel insulin receptor mutation contributing to Rabson–Mendenhall syndrome

M. Soos, A. Tuthill, E. Sweeney, 2006, Clinical endocrinology.

Hypoglycemia and resistance to ketoacidosis in a subject without functional insulin receptors.

D. Dunger, M. Soos, A. Ogilvy-Stuart, 2001, Journal of Clinical Endocrinology and Metabolism.

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

D. Dunger, P. Gorden, M. Dattani, 2014, Nephron Physiology.

Functional activation of mutant human insulin receptor by monoclonal antibody

K. Siddle, A. Krook, M. Soos, 1996, The Lancet.

Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.

S. Gammeltoft, S. O’Rahilly, K. Siddle, 2003, Endocrinology.

IRS2 variants and syndromes of severe insulin resistance

I. Barroso, R. Temple, W. Bottomley, 2009, Diabetologia.

Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

C. Stewart, J. Rochford, R. Semple, 2012, JIMD reports.

A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion

Satish Patel, J. Prudent, S. Virtue, 2022, bioRxiv.