O. Rajanayagam

发表

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.

F. Muntoni, B. Carlson, D. Hatfield, 2016, The Journal of clinical investigation.

A mutation in the thyroid hormone receptor alpha gene.

K. Downes, F. Vargha-Khadem, F. Muntoni, 2012, The New England journal of medicine.

A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations

S. O’Rahilly, A. Majithia, J. Schwabe, 2018, Diabetes.

A role for helix 3 of the TRβ ligand‐binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone

R. Fletterick, G. Binder, F. de Zegher, 1998, The EMBO journal.

Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?

J. Mollon, F. Vargha-Khadem, M. Dattani, 2017, Journal of the Endocrine Society.

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

A. Offiah, A. Efthymiadou, M. Gurnell, 2014, The lancet. Diabetes & endocrinology.

Edinburgh Research Explorer Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance

S. O’Rahilly, N. Wareham, I. Barroso, 2018 .

Three Novel Mutations at Serine 314 in the Thyroid Hormone β Receptor Differentially Impair Ligand Binding in the Syndrome of Resistance to Thyroid Hormone1.

A. Pinchera, J. Schwabe, M. Gurnell, 1999, Endocrinology.

Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRβ gene (M313T)

V. Chatterjee, A. Grossman, V. Larcher, 2002, Clinical endocrinology.

Three Novel Mutations at Serine 314 in the Thyroid Hormone b Receptor Differentially Impair Ligand Binding in the Syndrome of Resistance to Thyroid Hormone*

Wiel, M. Gurnell, V. Chatterjee, 1999 .

An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

Soo-Mi Park, N. Wareham, M. Dattani, 2013, The Journal of clinical endocrinology and metabolism.

Retardation of post‐natal development caused by a negatively acting thyroid hormone receptor α1

C. Ohlsson, S. Pettersson, M. Adams, 2002, The EMBO journal.

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

F. Muntoni, N. Wareham, M. Dattani, 2010, The Journal of clinical investigation.

Non-DNA binding, dominant-negative, human PPARγ mutations cause lipodystrophic insulin resistance

S. O’Rahilly, N. Wareham, I. Barroso, 2006, Cell metabolism.

Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.

T. Willson, S. O’Rahilly, H. Xu, 2004, Endocrinology.

A Dominant-negative Peroxisome Proliferator-activated Receptor γ (PPARγ) Mutant Is a Constitutive Repressor and Inhibits PPARγ-mediated Adipogenesis*

M. Lazar, J. Schwabe, M. Gurnell, 2000, The Journal of Biological Chemistry.

Digenic inheritance of severe insulin resistance in a human pedigree

Jimmy D Bell, S. O’Rahilly, N. Wareham, 2002, Nature Genetics.

A dominant-negative peroxisome proliferator-activated receptor gamma (PPARgamma) mutant is a constitutive repressor and inhibits PPARgamma-mediated adipogenesis.

M. Lazar, J. Schwabe, M. Gurnell, 2000, The Journal of biological chemistry.

Prenatal diagnosis of thyroid hormone resistance.

P. Beck‐Peccoz, V. Chatterjee, L. Persani, 1999, The Journal of clinical endocrinology and metabolism.

Reversible pituitary enlargement in the syndrome of resistance to thyroid hormone.

M. Gurnell, V. Chatterjee, O. Rajanayagam, 1998, Thyroid : official journal of the American Thyroid Association.

A natural transactivation mutation in the thyroid hormone beta receptor: impaired interaction with putative transcriptional mediators.

R. Fletterick, E. Kalkhoven, V. Chatterjee, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Digenic inheritance of severe insulin resistance in a human pedigree

S. O’Rahilly, N. Wareham, I. Barroso, 2002, Nature Genetics.

Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins

A. Offiah, J. Schwabe, S. Price, 2016, Thyroid : official journal of the American Thyroid Association.

A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic Hyperthyroxinemia

J. Schwabe, M. Gurnell, P. Beck‐Peccoz, 2014, The Journal of clinical endocrinology and metabolism.

Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge.

A. Pinchera, V. Chatterjee, M. Agostini, 2009, Clinical chemistry.

Good Correlation and Concordance with the Pct Assay on the Brahms Familial Dysalbuminemic Hyperthyroxinemia: a Persistent Diagnostic Challenge Letters to the Editor

A. Pinchera, V. Chatterjee, M. Agostini, 2009 .

Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome

S. Cannavò, L. Persani, L. Fugazzola, 2021, European Thyroid Journal.

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

A. Offiah, A. Efthymiadou, M. Gurnell, 2014, The lancet. Diabetes & endocrinology.