Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism von Semple, R. K., Achermann, J. C., Ellery, J., Farooqi, I. S., Karet, F. E., Stanhope, R. G., O’Rahilly, S., Aparicio, S. A.

Volltext

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action von Huang-Doran, I, Semple, R.K

Volltext

Expression of the thermogenic nuclear hormone receptor coactivator PGC-1α is reduced in the adipose tissue of morbidly obese subjects von SEMPLE, R. K, CROWLEY, V. C, SEWTER, C. P, LAUDES, M, CHRISTODOULIDES, C, CONSIDINE, R. V, VIDAL-PUIG, A, O'RAHILLY, S

Volltext

Mechanistic insights into insulin resistance in the genetic era von Parker, V. E. R., Savage, D. B., O'Rahilly, S., Semple, R. K.

Volltext

Elevated Plasma Adiponectin in Humans with Genetically Defective Insulin Receptors von Semple, R. K., Soos, M. A., Luan, J., Mitchell, C. S., Wilson, J. C., Gurnell, M., Cochran, E. K., Gorden, P., Chatterjee, V. K. K., Wareham, N. J., O’Rahilly, S.

Volltext

The Effects of Neurokinin B upon Gonadotrophin Release in Male Rodents von Corander, M. P., Challis, B. G., Thompson, E. L., Jovanovic, Z., Loraine Tung, Y. C., Rimmington, D., Huhtaniemi, I. T., Murphy, K. G., Topaloglu, A. K., Yeo, G. S. H., O'Rahilly, S., Dhillo, W. S., Semple, R. K., Coll, A. P.

Volltext

Severe insulin resistance due to anti‐insulin antibodies: response to plasma exchange and immunosuppressive therapy von Greenfield, J. R., Tuthill, A., Soos, M. A., Semple, R. K., Halsall, D. J., Chaudhry, A., O’Rahilly, S.

Volltext

Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin von Gambineri, A, Semple, R K, Forlani, G, Genghini, S, Grassi, I, Hyden, C S S, Pagotto, U, O'Rahilly, S, Pasquali, R

Volltext

An Activating Mutation of AKT2 and Human Hypoglycemia von Hussain, K., Challis, B., Rocha, N., Payne, F., Minic, M., Thompson, A., Daly, A., Scott, C., Harris, J., Smillie, B. J. L., Savage, D. B., Ramaswami, U., De Lonlay, P., O'Rahilly, S., Barroso, I., Semple, R. K.

Volltext

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, s... von Luu, M., Vabres, P., Devilliers, H., Loffroy, R., Phan, A., Martin, L., Morice-Picard, F., Petit, F., Willems, M., Bessis, D., Jacquemont, M. L., Maruani, A., Chiaverini, C., Mirault, T., Clayton-Smith, J., Carpentier, M., Fleck, C., Maurer, A., Yousfi, M., Parker, V. E. R., Semple, R. K., Bardou, M., Faivre, L.

Volltext

A Dominant Negative Human Peroxisome Proliferator-Activated Receptor (PPAR)α Is a Constitutive Transcriptional Corepressor and Inhibits Signaling through All PPAR Isoforms von Semple, R. K, Meirhaeghe, A, Vidal-Puig, A. J, Schwabe, J. W. R, Wiggins, D, Gibbons, G. F, Gurnell, M, Chatterjee, V. K. K, O’Rahilly, S

Volltext

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome von Tuthill, A., Semple, R. K., Day, R., Soos, M. A., Sweeney, E., Seymour, P. J., Didi, M., O'Rahilly, S.

Volltext

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling von 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.

Volltext

Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations von Collins, S. C, Luan, J, Thompson, A. J, Daly, A, Semple, R. K, O'Rahilly, S, Wareham, N. J, Barroso, I

Volltext

Growth and hormone profiling in children with congenital melanocytic naevi von Waelchli, R., Williams, J., Cole, T., Dattani, M., Hindmarsh, P., Kennedy, H., Martinez, A., Khan, S., Semple, R.K., White, A., Sebire, N., Healy, E., Moore, G., Kinsler, V.A.

Volltext

Analysis of TBC1D4 in patients with severe insulin resistance von Dash, S, Langenberg, C, Fawcett, K. A, Semple, R. K, Romeo, S, Sharp, S, Sano, H, Lienhard, G. E, Rochford, J. J, Howlett, T, Massoud, A. F, Hindmarsh, P, Howell, S. J, Wilkinson, R. J, Lyssenko, V, Groop, L, Baroni, M. G, Barroso, I, Wareham, N. J, O' Rahilly, S, Savage, D. B

Volltext

Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation von Carmody, D., Ladsaria, S. S., Buikema, R. K., Semple, R. K., Greeley, S. A. W.

Volltext

Treatment of Type B Insulin Resistance: A Novel Approach to Reduce Insulin Receptor Autoantibodies von Malek, R., Chong, A. Y., Lupsa, B. C., Lungu, A. O., Cochran, E. K., Soos, M. A., Semple, R. K., Balow, J. E., Gorden, P.

Volltext

IRS2 variants and syndromes of severe insulin resistance von Bottomley, W. E, Soos, M. A, Adams, C, Guran, T, Howlett, T. A, Mackie, A, Miell, J, Monson, J. P, Temple, R, Tenenbaum-Rakover, Y, Tymms, J, Savage, D. B, Semple, R. K, O'Rahilly, S, Barroso, I

Volltext

Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance von Murphy, R., Smith, G., Isaac, I., Hutchinson, D., Semple, R. K.

Volltext