Zobrazeno 1 - 10
of 426
pro vyhledávání: '"Rajesh V Thakker"'
Publikováno v:
Endocrine Oncology, Vol 3, Iss 1, Pp 1-17 (2023)
Pancreatic neuroendocrine tumours (PNETs) are the second most c ommon pancreatic tumour. However, relatively little is known about their tumouri genic drivers, other than mutations involving the multiple endocrine neoplasia 1 ( MEN1), ATRX chromatin
Externí odkaz:
https://doaj.org/article/ea569c9ea55f4afdace01b2ae71c82c0
Autor:
Kate E Lines, Mahsa Javid, Anita A C Reed, Gerard V Walls, Mark Stevenson, Michelle Simon, Kreepa G Kooblall, Sian E Piret, Paul T Christie, Paul J Newey, Ann-Marie Mallon, Rajesh V Thakker
Publikováno v:
Endocrine Connections, Vol 9, Iss 5, Pp 426-437 (2020)
Multiple endocrine neoplasia type 1 (MEN1), an autosomal domina nt disorder caused by MEN1 germline mutations, is characterised by parathyroid, pancreati c and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroi dis
Externí odkaz:
https://doaj.org/article/a2653ed4f925427ab63aff57abcabec7
Autor:
Katherine U Gaynor, Irina V Grigorieva, Samantha M Mirczuk, Sian E Piret, Kreepa G Kooblall, Mark Stevenson, Karine Rizzoti, Michael R Bowl, M Andrew Nesbit, Paul T Christie, William D Fraser, Tertius Hough, Michael P Whyte, Robin Lovell-Badge, Rajesh V Thakker
Publikováno v:
Endocrine Connections, Vol 9, Iss 2, Pp 173-186 (2020)
Hypoparathyroidism is genetically heterogeneous and characterized by low plasma calcium and parathyroid hormone (PTH) concentrations. X-linked hypoparathyroidism (XLHPT) in two American families is associated with interstitial deletion- insertions in
Externí odkaz:
https://doaj.org/article/dde6581491014fbda33618deed571a84
Autor:
Sylvia Thiele, Anke Hannemann, Maria Winzer, Ulrike Baschant, Heike Weidner, Matthias Nauck, Rajesh V Thakker, Martin Bornhäuser, Lorenz C Hofbauer, Martina Rauner
Publikováno v:
Endocrine Connections, Vol 8, Iss 7, Pp 923-934 (2019)
Glucocorticoids (GC) are used for the treatment of inflammatory diseases, including various forms of arthritis. However, their use is limited, amongst others, by adverse effects on bone. The Wnt and bone formation inhibitor sclerostin was recently im
Externí odkaz:
https://doaj.org/article/859dcd8053174ff2af1c895a18d3602b
Autor:
Fadil M Hannan, Caroline M Gorvin, Valerie N Babinsky, Mie K Olesen, Michelle Stewart, Sara Wells, Roger D Cox, Edward F Nemeth, Rajesh V Thakker
Publikováno v:
JBMR Plus, Vol 4, Iss 10, Pp n/a-n/a (2020)
ABSTRACT Calcilytics are calcium‐sensing receptor (CaSR) antagonists that reduce the sensitivity of the CaSR to extracellular calcium. Calcilytics have the potential to treat autosomal dominant hypocalcemia type 1 (ADH1), which is caused by germlin
Externí odkaz:
https://doaj.org/article/b1ca682f65744783ab1d5a44e4f3c1ef
Autor:
Christopher T Esapa, Sian E Piret, M Andrew Nesbit, Nellie Y Loh, Gethin Thomas, Peter I Croucher, Matthew A Brown, Steve D M Brown, Roger D Cox, Rajesh V Thakker
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0167916 (2016)
Non-syndromic kyphosis is a common disorder that is associated with significant morbidity and has a strong genetic involvement; however, the causative genes remain to be identified, as such studies are hampered by genetic heterogeneity, small familie
Externí odkaz:
https://doaj.org/article/5be3fc2482074313a0a2de925720ba76
Autor:
Valerie N Babinsky, Fadil M Hannan, Sonia C Youhanna, Céline Maréchal, Michel Jadoul, Olivier Devuyst, Rajesh V Thakker
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0119459 (2015)
Cardiovascular disease is the major cause of death in renal transplant recipients (RTRs) and linked to arterial calcification. The calcium-sensing receptor (CaSR), a G-protein coupled receptor, plays a pivotal role in extracellular calcium homeostasi
Externí odkaz:
https://doaj.org/article/4a2f7aa74c8a4e81838c4a23fcf5adf3
Autor:
Christopher T Esapa, Fadil M Hannan, Valerie N Babinsky, Paul Potter, Gethin P Thomas, Peter I Croucher, Matthew A Brown, Steve D M Brown, Roger D Cox, Rajesh V Thakker
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0122650 (2015)
Ectopic calcification (EC), which is the pathological deposition of calcium and phosphate in extra-skeletal tissues, may be associated with hypercalcaemic and hyperphosphataemic disorders, or it may occur in the absence of metabolic abnormalities. In
Externí odkaz:
https://doaj.org/article/c5a3aff49d8846a0979e8ac85913c964
Autor:
Chen Zhang, Nagaraju Mulpuri, Fadil M Hannan, M Andrew Nesbit, Rajesh V Thakker, Donald Hamelberg, Edward M Brown, Jenny J Yang
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e113622 (2014)
The Ca(2+)-sensing receptor (CaSR) regulates Ca(2+) homeostasis in the body by monitoring extracellular levels of Ca(2+) ([Ca(2+)]o) and amino acids. Mutations at the hinge region of the N-terminal Venus flytrap domain (VFTD) produce either receptor
Externí odkaz:
https://doaj.org/article/4d37cc14efa74f3ba3cd8251071ff027
Autor:
Nellie Y Loh, Liz Bentley, Henrik Dimke, Sjoerd Verkaart, Paolo Tammaro, Caroline M Gorvin, Michael J Stechman, Bushra N Ahmad, Fadil M Hannan, Sian E Piret, Holly Evans, Ilaria Bellantuono, Tertius A Hough, William D Fraser, Joost G J Hoenderop, Frances M Ashcroft, Steve D M Brown, René J M Bindels, Roger D Cox, Rajesh V Thakker
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e55412 (2013)
Hypercalciuria is a major cause of nephrolithiasis, and is a common and complex disorder involving genetic and environmental factors. Identification of genetic factors for monogenic forms of hypercalciuria is hampered by the limited availability of l
Externí odkaz:
https://doaj.org/article/398083a269454e2e838e54531e91aaa4