Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Autor: Binsheng Gong, Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Shangzi Wang, Carlos Pabón-Peña, Zhihong Zhang, Kevin Lai, Wanshi Cai, Jennifer S. LoCoco, Eric Lader, Todd A. Richmond, Vinay K. Mittal, Liang-Chun Liu, Donald J. Johann, James C. Willey, Pierre R. Bushel, Ying Yu, Chang Xu, Guangchun Chen, Daniel Burgess, Simon Cawley, Kristina Giorda, Nathan Haseley, Fujun Qiu, Katherine Wilkins, Hanane Arib, Claire Attwooll, Kevin Babson, Longlong Bao, Wenjun Bao, Anne Bergstrom Lucas, Hunter Best, Ambica Bhandari, Halil Bisgin, James Blackburn, Thomas M. Blomquist, Lisa Boardman, Blake Burgher, Daniel J. Butler, Chia-Jung Chang, Alka Chaubey, Tao Chen, Marco Chierici, Christopher R. Chin, Devin Close, Jeffrey Conroy, Jessica Cooley Coleman, Daniel J. Craig, Erin Crawford, Angela del Pozo, Ira W. Deveson, Daniel Duncan, Agda Karina Eterovic, Xiaohui Fan, Jonathan Foox, Cesare Furlanello, Abhisek Ghosal, Sean Glenn, Meijian Guan, Christine Haag, Xinyi Hang, Scott Happe, Brittany Hennigan, Jennifer Hipp, Huixiao Hong, Kyle Horvath, Jianhong Hu, Li-Yuan Hung, Mirna Jarosz, Jennifer Kerkhof, Benjamin Kipp, David Philip Kreil, Paweł Łabaj, Pablo Lapunzina, Peng Li, Quan-Zhen Li, Weihua Li, Zhiguang Li, Yu Liang, Shaoqing Liu, Zhichao Liu, Charles Ma, Narasimha Marella, Rubén Martín-Arenas, Dalila B. Megherbi, Qingchang Meng, Piotr A. Mieczkowski, Tom Morrison, Donna Muzny, Baitang Ning, Barbara L. Parsons, Cloud P. Paweletz, Mehdi Pirooznia, Wubin Qu, Amelia Raymond, Paul Rindler, Rebecca Ringler, Bekim Sadikovic, Andreas Scherer, Egbert Schulze, Robert Sebra, Rita Shaknovich, Qiang Shi, Tieliu Shi, Juan Carlos Silla-Castro, Melissa Smith, Mario Solís López, Ping Song, Daniel Stetson, Maya Strahl, Alan Stuart, Julianna Supplee, Philippe Szankasi, Haowen Tan, Lin-ya Tang, Yonghui Tao, Shraddha Thakkar, Danielle Thierry-Mieg, Jean Thierry-Mieg, Venkat J. Thodima, David Thomas, Boris Tichý, Nikola Tom, Elena Vallespin Garcia, Suman Verma, Kimbley Walker, Charles Wang, Junwen Wang, Yexun Wang, Zhining Wen, Valtteri Wirta, Leihong Wu, Chunlin Xiao, Wenzhong Xiao, Shibei Xu, Mary Yang, Jianming Ying, Shun H. Yip, Guangliang Zhang, Sa Zhang, Meiru Zhao, Yuanting Zheng, Xiaoyan Zhou, Christopher E. Mason, Timothy Mercer, Weida Tong, Leming Shi, Wendell Jones, Joshua Xu

Publikováno v: Genome Biology, Vol 22, Iss 1, Pp 1-23 (2021)

Abstract Background Targeted sequencing using oncopanels requires comprehensive assessments of accuracy and detection sensitivity to ensure analytical validity. By employing reference materials characterized by the U.S. Food and Drug Administration-l

Externí odkaz: https://doaj.org/article/c5365bb671514dddbb3d5b324f62ed28

Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia.

Autor: Saskia Letz, Christine Haag, Egbert Schulze, Karin Frank-Raue, Friedhelm Raue, Benjamin Hofner, Bernhard Mayr, Christof Schöfl

Publikováno v: PLoS ONE, Vol 9, Iss 12, p e115178 (2014)

Activating calcium sensing receptor (CaSR) mutations cause autosomal dominant hypocalcemia (ADH) characterized by low serum calcium, inappropriately low PTH and relative hypercalciuria. Four activating CaSR mutations cause additional renal wasting of

Externí odkaz: https://doaj.org/article/e1d0764a84934af688578252ec8eb1d4

Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype

Autor: Christof Schöfl, Marcus Quinkler, Egbert Schulze, Karin Frank-Raue, Erwin Lankes, U. Bogner, Christian J. Strasburger, Christine Haag, Markus Glaudo, Ulf Elbelt, Saskia Letz, Joachim Feldkamp, Bernhard Mayr, Dirk Schnabel, Sandra Scheel, Friedhelm Raue

Publikováno v: European journal of endocrinology. 175(5)

BackgroundHomozygous inactivating mutations of the calcium-sensing receptor (CaSR) lead to neonatal severe hyperparathyroidism (NSHPT), whereas heterozygous inactivating mutations result in familial hypocalciuric hypercalcemia (FHH). It is unknown wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d985b2efa5ca49f27112a49a4f3d23
https://pubmed.ncbi.nlm.nih.gov/27666534

CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum

Autor: Roger Keuser, Friedhelm Raue, Christine Haag, Henning Dralle, Kerstin Lorenz, Karin Frank-Raue, Egbert Schulze

Publikováno v: European Journal of Endocrinology. 165:477-483

ObjectiveHyperparathyroidism-jaw tumour (HPT-JT) syndrome is a rare autosomal dominant cause of benign and malignant parathyroid tumours, ossifying jaw tumours, various cystic and neoplastic renal abnormalities and benign and malignant uterine tumour

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7590517fa3859e00a8d015c1dab759cc
https://doi.org/10.1530/eje-11-0003

Diagnosis of Glucocorticoid-Remediable Aldosteronism in Hypertensive Children

Autor: Christine Haag, Christiane Maser-Gluth, Egbert Schulze, Clemens Kamrath

Publikováno v: Hormone Research in Paediatrics. 76:93-98

Objective: Glucocorticoid-remediable aldosteronism (GRA) is caused by the presence of a chimeric gene originating from an unequal cross-over between the CYP11B1 and CYP11B2 genes. Aldosterone suppression by dexamethasone and high 18-hydroxycortisol (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4073d2c15bce92dc44d2f1cd01b7c2de
https://doi.org/10.1159/000326524