Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kelly Lauter Roszko"'
Publikováno v:
Frontiers in Physiology, Vol 7 (2016)
Extracellular calcium is essential for life and its concentration in the blood is maintained within a narrow range. This is achieved by a feedback loop that receives input from the calcium-sensing receptor (CASR), expressed on the surface of parathyr
Externí odkaz:
https://doaj.org/article/c15ee4544d0d4b5cb59d45d36e9219f9
Autor:
null Kelly Lauter Roszko, null Sydney Brown, null Ying Pang, null Thanh Huynh, null Zhengping Zhuang, null Karel Pacak, null Michael T Collins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ec74d96ba19f72a9117f0ab3a45a347
https://doi.org/10.1002/jbmr.4195/v3/response1
https://doi.org/10.1002/jbmr.4195/v3/response1
Autor:
Kelly Lauter Roszko, Rachel I Gafni, Michael T. Collins, Jonathan C Fox, Karen A Pozo, Ramei Sani-Grosso, Iris R Hartley, Edward F. Nemeth, Ananth Sridhar
Publikováno v:
Journal of the Endocrine Society
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by gain-of-function pathogenic variants in the gene encoding the calcium-sensing receptor (CaSR). It is characterized by variable degrees of hypocalcemia, hyper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4504eb1c766f0c77d576568033a9d5
https://doi.org/10.1210/jendso/bvab048.515
https://doi.org/10.1210/jendso/bvab048.515
Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas
Autor:
Richard A. Hodin, Peter M. Sadow, Elizabeth A. Lawson, Michael A. Blake, Kelly Lauter Roszko, Arthur S. Tischler, James F. Powers, Erica Blouch
Publikováno v:
Journal of the Endocrine Society
Pheochromocytomas are neuroendocrine tumors that can arise sporadically or be inherited as a familial disease, and they may occur in isolation or as part of a multitumor syndrome. Familial disease typically presents in younger patients with a higher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727bf3cdfe25b295542c172d2d2a7891
http://europepmc.org/articles/PMC5686672
http://europepmc.org/articles/PMC5686672
Autor:
Kelly Lauter Roszko, Ananth Sridhar, Ramei Sani-Grosso, William D Kennedy, Iris R Hartley, Karen A Pozo, Rachel I Gafni, Jonathan C Fox, Edward F. Nemeth, Michael T. Collins
Publikováno v:
Journal of the Endocrine Society
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by gain-of-function pathogenic variants in the gene (CASR) encoding the calcium-sensing receptor (CaSR). It is characterized by variable degrees of hypocalcemia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1360b69a28dc99bd5761beb15d64fab0
https://doi.org/10.1210/jendso/bvab048.545
https://doi.org/10.1210/jendso/bvab048.545
Autor:
Kelly Lauter Roszko, Caroline M Gorvin, Asuka Inoue, Xiao-Feng Xiong, Rajesh V. Thakker, Ruiye Bi, Thomas J. Gardella, Hans Bräuner-Osborne, Kristian Strømgaard, Michael Mannstadt
Publikováno v:
Roszko, K L, Bi, R, Gorvin, C M, Bräuner-Osborne, H, Xiong, X-F, Inoue, A, Thakker, R V, Strømgaard, K, Gardella, T & Mannstadt, M 2017, ' Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors ', JCI insight, vol. 2, no. 3, e91079 . https://doi.org/10.1172/jci.insight.91079
Heterotrimeric G proteins play critical roles in transducing extracellular signals generated by 7-transmembrane domain receptors. Somatic gain-of-function mutations in G protein α subunits are associated with a variety of diseases. Recently, we iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::752efb9037cb88501e383588c8ce5cf2
https://doi.org/10.1172/jci.insight.91079
https://doi.org/10.1172/jci.insight.91079