Rajesh Thakker - Dissemin

Papers authored by Rajesh Thakker

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2010 Jeshmi Jeyabalan, M. Andrew Nesbit, M. Andrew Nesbit, Juris Galvanovskis, Richard Callaghan, Patrik Rorsman, Rajesh V. Thakker

SEDLIN Forms Homodimers: Characterisation of SEDLIN Mutations and Their Interactions with Transcription Factors MBP1, PITX1 and SF1

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Pj Newey, Mr Bowl, Treena Cranston, Rv Thakker

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

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Mr R. Bowl, Sm M. Mirczuk, Irina V. Grigorieva, Se E. Piret, Treena Cranston, Lorraine Southam, Jeremy Allgrove, Shailini Bahl, Caroline Brain, John Loughlin, Zulf Mughal, Fiona Ryan, Nick Shaw, Yv V. Thakker, Dov Tiosano and 3 other authors

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

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Rajesh V. Thakker

Chapter 101. Genetic Basis of Renal Stones

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Fadil Mohammed Hannan, M. A. Nesbit, M. Andrew Nesbit, Paul T. Christie, Willy Lissens, Bart Van der Schueren, Marie Bex, Roger Bouillon, Rajesh V. Thakker

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

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Jj Turner, Pt Christie, Simon H. Sh Pearce, Pd Turnpenny, Rv Thakker

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).

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Olivier Devuyst, Rajesh V. Thakker

Dent's disease

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2009 Anita A. C. Reed, Nellie Y. Loh, Sara Terryn, Jonathan David Lippiat

, Chris J. Partridge, Juris Galvanovskis, Siân E. Williams, Francois Jouret, Fiona T. Ft Wu, Pierre J. Courtoy, M. Andrew Nesbit, M. Andrew Nesbit, Patrik Rorsman, Olivier Devuyst, Frances M. Ashcroft and 1 other authors

CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

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M. Andrew Nesbit, M. Andrew Nesbit, Fadil M. Hannan, Jeremy J. O. Turner, Joanna M. Stacey, Luisella Cianferotti, Paul T. Christie, Arthur D. Conigrave, Michael P. Whyte, Rajesh V. Thakker

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

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Pj Newey, Jeshmi Jeyabalan, Gv Walls, Pt Christie, Fv Gleeson, Steve Gould, Pr Johnson, Rachel Rr Phillips, Fj Ryan, Brian Shine, Mr Bowl, Rv Thakker

Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.

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Brian Harding, Mc C. Lemos

, Aa A. C. Reed, Gv V. Walls, Jeshmi Jeyabalan, Mr R. Bowl, Hilda Tateossian, Nicky Sullivan, William D. Fraser, Tertius Hough, W. D. Fraser, Wd Fraser, Olaf Ansorge, Mt T. Cheeseman, Rv V. Thakker

and 1 other authors

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia.

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Mc C. Lemos

, Brian Harding, Aa A. C. Reed, Jeshmi Jeyabalan, Gv V. Walls, Mr R. Bowl, James Sharpe, Sarah Wedden, Je E. Moss, Allyson Ross, Duncan Davidson, Rv V. Thakker

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.

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Pj J. Newey, Mr R. Bowl, Rv V. Thakker

Parafibromin--functional insights.

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Siân E. Williams, Anita A. C. Reed, Juris Galvanovskis, Corinne Antignac, Tim Goodship, Fiona E. Karet, Peter Kotanko, Karl Lhotta, Vincent Morinière, Paul Williams, William Wong, Patrik Rorsman, Rajesh V. Thakker

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

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Andrew J. Smith, Anita A. C. Reed, Nellie Y. Loh, Rajesh V. Thakker

, Jonathan D. Lippiat

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

C. J. Rosen, J. E. Compston, J. B. Lian, R. Bouillon, S. M. Jan de Beur, S. Papapoulos, P. D. Delmas, R. W. Keen, Rosen, M. Demay, L. K. McCauley, E. Seeman, T. A. Guise, P. D. Miller, R. Thakker

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism: Seventh Edition

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Fiona Wu, Aa Reed, Se Williams, Ny Loh, Jonathan D. Lippiat

, Pt Christie, Oliver Large, Alberto Bettinelli, Mj Dillon, Np Goldraich, Bernd Hoppe, Karl Lhotta, Chantal Loirat, Rayaz Malik, Delphine Morel and 9 other authors

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.

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