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Select item 64888581.

Diagnostic and prognostic implications of parafibromin immunohistochemistry in parathyroid carcinomaT

Jung-Soo Pyo, Won Jin Cho

Biosci Rep. 2019 Apr 30; 39(4): BSR20181778. Prepublished online 2019 Mar 29. Published online 2019 Apr 30. doi: 10.1042/BSR20181778

PMCID:: PMC6488858

Abstract Article PDF–941K

Select item 63825322.

CDC73 germline mutation in a family with mixed epithelial and stromal tumors

Cathy D. Vocke, Christopher J. Ricketts, Mark W. Ball, Laura S. Schmidt, Adam R. Metwalli, Lindsay A. Middelton, J. Keith Killian, Javed Khan, Paul S. Meltzer, William F. Simonds, Maria J. Merino, W. Marston Linehan

Urology. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Urology. 2019 Feb; 124: 91–97. Published online 2018 Nov 16. doi: 10.1016/j.urology.2018.11.013

PMCID:: PMC6382532

Abstract Article PDF–1.1M

Select item 56987163.

Molecular genetics of syndromic and non‐syndromic forms of parathyroid carcinoma

Luís Cardoso, Mark Stevenson, Rajesh V. Thakker

Hum Mutat. 2017 Dec; 38(12): 1621–1648. Published online 2017 Sep 25. doi: 10.1002/humu.23337

PMCID:: PMC5698716

Abstract Article PDF–1.4M

Select item 56881304.

Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome

Wei Sun, Xiao-Lin Kuang, Yan-Ping Liu, Li-Fei Tian, Xiao-Xue Yan, Wenqing Xu

Sci Rep. 2017; 7: 15638. Published online 2017 Nov 15. doi: 10.1038/s41598-017-15715-9

PMCID:: PMC5688130

Abstract Article PDF–2.9M

Select item 55435515.

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E. C. Cole

BMC Med Genet. 2017; 18: 83. Published online 2017 Aug 3. doi: 10.1186/s12881-017-0445-0

Correction in:: BMC Med Genet. 2017; 18: 99.

PMCID:: PMC5543551

Abstract Article PDF–1.3M

Select item 54103306.

The in vitro and in vivo effects of nuclear and cytosolic parafibromin expression on the aggressive phenotypes of colorectal cancer cells: a search of potential gene therapy target

Hua-chuan Zheng, Jia-jie Liu, Jing Li, Ji-cheng Wu, Lei Yang, Gui-feng Zhao, Xin Zhao, Hua-mao Jiang, Ke-qiang Huang, Zhi-jie Li

Oncotarget. 2017 Apr 4; 8(14): 23603–23612. Published online 2017 Feb 16. doi: 10.18632/oncotarget.15377

PMCID:: PMC5410330

Abstract Article PDF–6.4M

Select item 42079367.

CDC73 Intragenic Deletion in Familial Primary Hyperparathyroidism Associated With Parathyroid Carcinoma

Eeva Korpi-Hyövälti, Treena Cranston, Eeva Ryhänen, Johanna Arola, Kristiina Aittomäki, Timo Sane, Rajesh V. Thakker, Camilla Schalin-Jäntti

J Clin Endocrinol Metab. 2014 Sep; 99(9): 3044–3048. Published online 2014 May 13. doi: 10.1210/jc.2014-1481

PMCID:: PMC4207936

Abstract Article

Select item 38553868.

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E. C. Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N. Hendy, Leonardo D’Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri

PLoS One. 2013; 8(12): e82292. Published online 2013 Dec 5. doi: 10.1371/journal.pone.0082292

PMCID:: PMC3855386

Abstract Article PDF–1.2M

Select item 34608699.

Genome-Wide and Locus Specific Alterations in CDC73/HRPT2-Mutated Parathyroid Tumors

Luqman Sulaiman, Felix Haglund, Jamileh Hashemi, Takao Obara, Jörgen Nordenström, Catharina Larsson, C. Christofer Juhlin

PLoS One. 2012; 7(9): e46325. Published online 2012 Sep 28. doi: 10.1371/journal.pone.0046325

PMCID:: PMC3460869

Abstract Article PDF–698K

Select item 344780510.

Novel HRPT2/CDC73 Gene Mutations and Loss of Expression of Parafibromin in Chinese Patients with Clinically Sporadic Parathyroid Carcinomas

Ou Wang, Chunyan Wang, Min Nie, Quancai Cui, Heng Guan, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing

PLoS One. 2012; 7(9): e45567. Published online 2012 Sep 20. doi: 10.1371/journal.pone.0045567

PMCID:: PMC3447805

Abstract Article PDF–4.0M

Select item 309845311.

Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome

Leelamma M. Panicker, Jian-Hua Zhang, Pradeep K. Dagur, Matthew J. Gastinger, William F. Simonds

Endocr Relat Cancer. Author manuscript; available in PMC 2011 Jun 1.

Published in final edited form as: Endocr Relat Cancer. 2010 Jun; 17(2): 513–524. Published online 2010 May 18. doi: 10.1677/ERC-09-0272

PMCID:: PMC3098453

Abstract Article PDF–1.7M

Select item 223370912.

Downregulated parafibromin expression is a promising marker for pathogenesis, invasion, metastasis and prognosis of gastric carcinomas

Hua-chuan Zheng, Hiroyuki Takahashi, Xiao-han Li, Takuo Hara, Shinji Masuda, Yi-fu Guan, Yasuo Takano

Virchows Arch. 2008 Feb; 452(2): 147–155. Published online 2007 Dec 14. doi: 10.1007/s00428-007-0551-z

PMCID:: PMC2233709

Abstract Article PDF–377K

Select item 180121413.

Hereditary Hyperparathyroidism–Jaw Tumor Syndrome: The Endocrine Tumor Gene HRPT2 Maps to Chromosome 1q21-q31

József Szabó, Brett Heath, Virginia M. Hill, Charles E. Jackson, Richard J. Zarbo, Lawrence E. Mallette, Shern L. Chew, Gordon M. Besser, Rajesh V. Thakker, Vicki Huff, Mark F. Leppert, Hunter Heath

Am J Hum Genet. 1995 Apr; 56(4): 944–950.

PMCID:: PMC1801214

Summary Page Browse PDF–1.3M

Select item 173611614.

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism

K Bradley, B Cavaco, M Bowl, B Harding, A Young, R Thakker

J Med Genet. 2005 Aug; 42(8): e51. doi: 10.1136/jmg.2005.032201

PMCID:: PMC1736116

Summary PDF–109K

Select item 173571315.

Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)

A Villablanca, A Calender, L Forsberg, A Hoog, J Cheng, D Petillo, C Bauters, K Kahnoski, T Ebeling, P Salmela, A Richardson, L Delbridge, A Meyrier, C Proye, J Carpten, B Teh, B Robinson, C Larsson

J Med Genet. 2004 Mar; 41(3): e32. doi: 10.1136/jmg.2003.012369

PMCID:: PMC1735713

Summary PDF–416K

Select item 173558016.

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

V Howell, C Haven, K Kahnoski, S Khoo, D Petillo, J Chen, G Fleuren, B Robinson, L Delbridge, J Philips, A Nelson, U Krause, K Hammje, H Dralle, C Hoang-Vu, O Gimm, D Marsh, H Morreau, B Teh

J Med Genet. 2003 Sep; 40(9): 657–663. doi: 10.1136/jmg.40.9.657