1 to 10 of 11 literature results

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

  The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors in associa…

  Authors: Paul J Newey, Michael R Bowl, Treena Cranston, Rajesh V Thakker

  Source: Human mutation. 2010 Mar

  View Full Text

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

  Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized in man by parathyroid, pancreatic, pituitary and adrenal tu…

  Authors: Brian Harding, Manuel C Lemos, Anita A C Reed, Gerard V Walls, Jeshmi Jeyabalan, Michael R Bowl, Hilda Tateossian, Nicky Sullivan, Tertius Hough, William D Fraser,…

  Source: Endocrine-related cancer. 2009 Dec

  View Full Text

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

  GCMB is a member of the small transcription factor family GCM (glial cells missing), which are important regulators of development, present in vertebr…

  Authors: Michael R Bowl, Samantha M Mirczuk, Irina V Grigorieva, Sian E Piret, Treena Cranston, Lorraine Southam, Jeremy Allgrove, Shailini Bahl, Caroline Brain, John Loughlin,…

  Source: Human molecular genetics. 2010 May 15

  View Full Text

• Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice.

  Parafibromin, a transcription factor associated with the PAF complex, is encoded by the HRPT2 gene, mutations of which cause the hyperparathyroidism-j…

  Authors: Pengfei Wang, Michael R Bowl, Stephanie Bender, Jun Peng, Leslie Farber, Jindong Chen, Asif Ali, Zhongfa Zhang, Arthur S Alberts, Rajesh V Thakker,…

  Source: Molecular and cellular biology. 2008 May

  View Free Full Text

• X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.

  X-linked hypoparathyroidism (HPT) has been mapped to a 988-kb region on chromosome Xq27 that contains three genes, MCF2/DBL, SOX3, and U7snRNA homolog…

  Authors: M Andrew Nesbit, Michael R Bowl, Brian Harding, David Schlessinger, Michael P Whyte, Rajesh V Thakker

  Source: Genomics. 2004 Dec

  View Full Text

• Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.

  OBJECTIVES: Associations between calcium-sensing receptor (CaSR) polymorphisms and serum calcium, PTH and bone mineral density (BMD) have been reporte…

  Authors: Brian Harding, Alan J Curley, Fadil M Hannan, Paul T Christie, Michael R Bowl, Jeremy J O Turner, Mathew Barber, Irina Gillham-Nasenya, Geeta Hampson, Tim D Spector,…

  Source: Clinical endocrinology. 2006 Nov

  View Full Text

• A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

  CONTEXT: Glial cells missing B (GCMB), the mammalian homolog of the Drosophila GCM gene, encodes a 506-amino-acid parathyroid-specific transcription f…

  Authors: Samantha M Mirczuk, Michael R Bowl, M Andrew Nesbit, Treena Cranston, Carl Fratter, Jeremy Allgrove, Caroline Brain, Rajesh V Thakker

  Source: The Journal of clinical endocrinology and metabolism. 2010 Jul

  View Full Text

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

  CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is characterized by the occurrence of parathyroid, pituitary, and pancreatic tumors. MEN1, an auto…

  Authors: Paul J Newey, Jeshmi Jeyabalan, Gerard V Walls, Paul T Christie, Fergus V Gleeson, Steve Gould, Paul R V Johnson, Rachel R Phillips, Fiona J Ryan, Brian Shine,…

  Source: The Journal of clinical endocrinology and metabolism. 2009 Oct

  View Full Text

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

  Germline mutations of the multiple endocrine neoplasia type 1 (MEN1) gene cause parathyroid, pancreatic and pituitary tumours in man. MEN1 mutations a…

  Authors: Manuel C Lemos, Brian Harding, Anita A C Reed, Jeshmi Jeyabalan, Gerard V Walls, Michael R Bowl, James Sharpe, Sarah Wedden, Julie E Moss, Allyson Ross,…

  Source: The Journal of endocrinology. 2009 Oct

  View Full Text

• An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

  X-linked recessive hypoparathyroidism, due to parathyroid agenesis, has been mapped to a 906-kb region on Xq27 that contains 3 genes (ATP11C, U7snRNA,…

  Authors: Michael R Bowl, M Andrew Nesbit, Brian Harding, Elaine Levy, Andrew Jefferson, Emanuela Volpi, Karine Rizzoti, Robin Lovell-Badge, David Schlessinger, Michael P Whyte,…

  Source: The Journal of clinical investigation. 2005 Oct

  View Free Full Text