Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update

Autor: Daniel Katselnik, Yanli Ding, Camilo Jimenez, Michael A. Liss, Bernadette Biondi, Zi Ming Cheng, Tobias Else, Marta Barontini, Nelly Burnichon, Rory Clifton-Bligh, Gustavo Armaiz-Pena, Alfredo A. Santillan-Gomez, Andrea Alvarez-Eslava, Deepa Vincent, Oksana Hamidi, Mio Kitano, Trisha Dwight, Enrique Maldonado, Joel E. Michalek, Diana E. Benn, Emmanuel Esquivel, Gabriela Sanso, Anne Paule Gimenez-Roqueplo, Maureen Koops, Art S. Tischler, Patricia L. M. Dahia, Xhingyu Zhang, Lauren Fishbein, Natalie Poullard, Anusha Vaidyanathan, Qianqian Liu, Shahida K. Flores, Neil Aronin, Ron Lechan, Elizabeth Bowhay-Carnes, Sara Ahmadi, Jan M. Bruder, Sarimar Agosto Salgado

Publikováno v: J Clin Endocrinol Metab

Purpose This work aimed to evaluate genotype-phenotype associations in individuals carrying germline variants of transmembrane protein 127 gene (TMEM127), a poorly known gene that confers susceptibility to pheochromocytoma (PHEO) and paraganglioma (P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e54bfa76c78ec866835518d27cac3fb
https://doi.org/10.1210/clinem/dgaa741

A Glycemia Risk Index (GRI) of Hypoglycemia and Hyperglycemia for Continuous Glucose Monitoring Validated by Clinician Ratings

Autor: David C. Klonoff, Jing Wang, David Rodbard, Michael A. Kohn, Chengdong Li, Dorian Liepmann, David Kerr, David Ahn, Anne L. Peters, Guillermo E. Umpierrez, Jane Jeffrie Seley, Nicole Y. Xu, Kevin T. Nguyen, Gregg Simonson, Michael S. D. Agus, Mohammed E. Al-Sofiani, Gustavo Armaiz-Pena, Timothy S. Bailey, Ananda Basu, Tadej Battelino, Sewagegn Yeshiwas Bekele, Pierre-Yves Benhamou, B. Wayne Bequette, Thomas Blevins, Marc D. Breton, Jessica R. Castle, James Geoffrey Chase, Kong Y. Chen, Pratik Choudhary, Mark A. Clements, Kelly L. Close, Curtiss B. Cook, Thomas Danne, Francis J. Doyle, Angela Drincic, Kathleen M. Dungan, Steven V. Edelman, Niels Ejskjaer, Juan C. Espinoza, G. Alexander Fleming, Gregory P. Forlenza, Guido Freckmann, Rodolfo J. Galindo, Ana Maria Gomez, Hanna A. Gutow, Lutz Heinemann, Irl B. Hirsch, Thanh D. Hoang, Roman Hovorka, Johan H. Jendle, Linong Ji, Shashank R. Joshi, Michael Joubert, Suneil K. Koliwad, Rayhan A. Lal, M. Cecilia Lansang, Wei-An (Andy) Lee, Lalantha Leelarathna, Lawrence A. Leiter, Marcus Lind, Michelle L. Litchman, Julia K. Mader, Katherine M. Mahoney, Boris Mankovsky, Umesh Masharani, Nestoras N. Mathioudakis, Alexander Mayorov, Jordan Messler, Joshua D. Miller, Viswanathan Mohan, James H. Nichols, Kirsten Nørgaard, David N. O’Neal, Francisco J. Pasquel, Athena Philis-Tsimikas, Thomas Pieber, Moshe Phillip, William H. Polonsky, Rodica Pop-Busui, Gerry Rayman, Eun-Jung Rhee, Steven J. Russell, Viral N. Shah, Jennifer L. Sherr, Koji Sode, Elias K. Spanakis, Deborah J. Wake, Kayo Waki, Amisha Wallia, Melissa E. Weinberg, Howard Wolpert, Eugene E. Wright, Mihail Zilbermint, Boris Kovatchev

Publikováno v: Klonoff, D C, Wang, J, Rodbard, D, Kohn, M A, Li, C, Liepmann, D, Kerr, D, Ahn, D, Peters, A L, Umpierrez, G E, Seley, J J, Xu, N Y, Nguyen, K T, Simonson, G, Agus, M S D, Al-Sofiani, M E, Armaiz-Pena, G, Bailey, T S, Basu, A, Battelino, T, Bekele, S Y, Benhamou, P-Y, Bequette, B W, Blevins, T, Breton, M D, Castle, J R, Chase, J G, Chen, K Y, Choudhary, P, Clements, M A, Close, K L, Cook, C B, Danne, T, Doyle, F J, Drincic, A, Dungan, K M, Edelman, S V, Ejskjaer, N, Espinoza, J C, Fleming, G A, Forlenza, G P, Freckmann, G, Galindo, R J, Gomez, A M, Gutow, H A, Heinemann, L, Hirsch, I B, Hoang, T D, Hovorka, R, Jendle, J H, Ji, L, Joshi, S R, Joubert, M, Koliwad, S K, Lal, R A, Lansang, M C, Lee, W-A A, Leelarathna, L, Leiter, L A, Lind, M, Litchman, M L, Mader, J K, Mahoney, K M, Mankovsky, B, Masharani, U, Mathioudakis, N N, Mayorov, A, Messler, J, Miller, J D, Mohan, V, Nichols, J H, Nørgaard, K, O'Neal, D N, Pasquel, F J, Philis-Tsimikas, A, Pieber, T, Phillip, M, Polonsky, W H, Pop-Busui, R, Rayman, G, Rhee, E-J, Russell, S J, Shah, V N, Sherr, J L, Sode, K, Spanakis, E K, Wake, D J, Waki, K, Wallia, A, Weinberg, M E, Wolpert, H, Wright, E E, Zilbermint, M & Kovatchev, B 2022, ' A Glycemia Risk Index (GRI) of Hypoglycemia and Hyperglycemia for Continuous Glucose Monitoring Validated by Clinician Ratings ', Journal of Diabetes Science and Technology . https://doi.org/10.1177/19322968221085273
Klonoff, D C, Wang, J, Rodbard, D, Kohn, M A, Li, C, Liepmann, D, Kerr, D, Ahn, D, Peters, A L, Umpierrez, G E, Seley, J J, Xu, N Y, Nguyen, K T, Simonson, G, Agus, M S D, Al-Sofiani, M E, Armaiz-Pena, G, Bailey, T S, Basu, A, Battelino, T, Bekele, S Y, Benhamou, P-Y, Bequette, B W, Blevins, T, Breton, M D, Castle, J R, Chase, J G, Chen, K Y, Choudhary, P, Clements, M A, Close, K L, Cook, C B, Danne, T, Doyle, F J, Drincic, A, Dungan, K M, Edelman, S V, Ejskjaer, N, Espinoza, J C, Fleming, G A, Forlenza, G P, Freckmann, G, Galindo, R J, Gomez, A M, Gutow, H A, Heinemann, L, Hirsch, I B, Hoang, T D, Hovorka, R, Jendle, J H, Ji, L, Joshi, S R, Joubert, M, Koliwad, S K, Lal, R A, Lansang, M C, Lee, W-A A, Leelarathna, L, Leiter, L A, Lind, M, Litchman, M L, Mader, J K, Mahoney, K M, Mankovsky, B, Masharani, U, Mathioudakis, N N, Mayorov, A, Messler, J, Miller, J D, Mohan, V, Nichols, J H, Nørgaard, K, O'Neal, D N, Pasquel, F J, Philis-Tsimikas, A, Pieber, T, Phillip, M, Polonsky, W H, Pop-Busui, R, Rayman, G, Rhee, E-J, Russell, S J, Shah, V N, Sherr, J L, Sode, K, Spanakis, E K, Wake, D J, Waki, K, Wallia, A, Weinberg, M E, Wolpert, H, Wright, E E, Zilbermint, M & Kovatchev, B 2022, ' A Glycemia Risk Index (GRI) of Hypoglycemia and Hyperglycemia for Continuous Glucose Monitoring Validated by Clinician Ratings ', Journal of Diabetes Science and Technology, pp. 19322968221085273 . https://doi.org/10.1177/19322968221085273

Background: A composite metric for the quality of glycemia from continuous glucose monitor (CGM) tracings could be useful for assisting with basic clinical interpretation of CGM data. Methods: We assembled a data set of 14-day CGM tracings from 225 i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e71cdb6eaf76d1bbf5a7b46139bc20c4
https://doi.org/10.1177/19322968221085273

Insights into Mechanisms of Pheochromocytomas and Paragangliomas Driven by Known or New Genetic Drivers

Autor: Cynthia M Estrada-Zuniga, Patricia L. M. Dahia, Shahida K Flores, Keerthi Thallapureddy, Gustavo Armaiz-Pena

Publikováno v: Cancers
Cancers, Vol 13, Iss 4602, p 4602 (2021)

Simple Summary Pheochromocytomas and paragangliomas are rare neuroendocrine tumors that are often hereditary. Although research has advanced considerably, significant gaps still persist in understanding risk factors, predicting metastatic potential a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c6031fa53b921221f3253615918034
https://doi.org/10.3390/cancers13184602

Abstract #720 Predictors of Permanent Hypoparathyroidism After Total Thyroidectomy in a Single Tertiary Institution

Autor: Jan M. Bruder, Steven Brown, Karyne Vinales, Gustavo Armaiz Pena

Publikováno v: Endocrine Practice. 24:160-161

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::522cd5300c2718336bcc1fe687caa03a
https://doi.org/10.1016/s1530-891x(20)47271-4