HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome

被引：21

作者：

Wang, PF

Tan, MH

Zhang, C

Morreau, H

Teh, BT

机构：

[1] Van Andel Res Inst, Canc Genet Lab, Grand Rapids, MI 49503 USA

[2] Alexandra Hosp, Dept Med, Singapore, Singapore

[3] Leiden Univ, Med Ctr, Dept Pathol, Leiden, Netherlands

来源：

HORMONE AND METABOLIC RESEARCH | 2005年 / 37卷 / 06期

关键词：

hyperparathyroidism-jaw tumor syndrome; HRPT2; parafibromin; parathyroid carcinoma;

D O I：

10.1055/s-2005-870150

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a familial multi-tumor syndrome resulting from inactivating mutations in the HRPT2 tumor suppressor gene, which encodes a protein product named parafibromin. Here, we will review recent advances in genetic and protein studies on parafibromin, and examine its biological functions.

引用

页码：380 / 383

页数：4

共 50 条

[21] Cytoplasmic polyadenylation element binding protein is a conserved target of tumor suppressor HRPT2/CDC73
J-H Zhang
L M Panicker
E M Seigneur
L Lin
C D House
W Morgan
W C Chen
H Mehta
M Haj-Ali
Z-X Yu
W F Simonds
Cell Death & Differentiation, 2010, 17 : 1551 - 1565
[22] Cytoplasmic polyadenylation element binding protein is a conserved target of tumor suppressor HRPT2/CDC73
Zhang, J-H
Panicker, L. M.
Seigneur, E. M.
Lin, L.
House, C. D.
Morgan, W.
Chen, W. C.
Mehta, H.
Haj-Ali, M.
Yu, Z-X
Simonds, W. F.
CELL DEATH AND DIFFERENTIATION, 2010, 17 (10) : 1551 - 1565
[23] Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment
F. Cetani
E. Pardi
E. Ambrogini
C. Banti
P. Viacava
S. Borsari
J. P. Bilezikian
A. Pinchera
C. Marcocci
Journal of Endocrinological Investigation, 2008, 31 : 900 - 904
[24] Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment
Cetani, F.
Pardi, E.
Ambrogini, E.
Banti, C.
Viacava, P.
Borsari, S.
Bilezikian, J. P.
Pinchera, A.
Marcocci, C.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2008, 31 (10) : 900 - 904
[25] A Novel Mutation in a Patient with Hyperparathyroidism-Jaw Tumour Syndrome
Bellido, Virginia
Larranaga, Ihintza
Guimon, Maite
Martinez-Conde, Rafael
Eguia, Asier
Perez de Nanclares, Gustavo
Castano, Luis
Gaztambide, Sonia
ENDOCRINE PATHOLOGY, 2016, 27 (02) : 142 - 146
[26] Hyperparathyroidism–jaw tumor syndrome: a report of three large kindred
Maurizio Iacobone
Giulia Masi
Luisa Barzon
Andrea Porzionato
Veronica Macchi
Francesco Antonio Ciarleglio
Giorgio Palù
Raffaele De Caro
Giovanni Viel
Gennaro Favia
Langenbeck's Archives of Surgery, 2009, 394 : 817 - 825
[27] Hyperparathyroidism - jaw tumor syndrome: a report of three large kindred
Iacobone, Maurizio
Masi, Giulia
Barzon, Luisa
Porzionato, Andrea
Macchi, Veronica
Ciarleglio, Francesco Antonio
Palu, Giorgio
De Caro, Raffaele
Viel, Giovanni
Favia, Gennaro
LANGENBECKS ARCHIVES OF SURGERY, 2009, 394 (05) : 817 - 825
[28] Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism
Domingues, Rita
Tomaz, Rute Alexandra
Martins, Carmo
Nunes, Carla
Bugalho, Maria Joao
Cavaco, Branca Maria
CLINICAL ENDOCRINOLOGY, 2012, 76 (01) : 33 - 38
[29] Identification of De Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses
Cavaco, Branca Maria
Santos, Rita
Felix, Ana
Carvalho, Davide
Lopes, Jose Manuel
Domingues, Rita
Sirgado, Marta
Rei, Nadia
Fonseca, Fernando
Santos, Jorge Rosa
Sobrinho, Luis
Leite, Valeriano
ENDOCRINE PATHOLOGY, 2011, 22 (01) : 44 - 52
[30] Identification of De Novo Germline Mutations in the HRPT2 Gene in Two Apparently Sporadic Cases with Challenging Parathyroid Tumor Diagnoses
Branca Maria Cavaco
Rita Santos
Ana Félix
Davide Carvalho
José Manuel Lopes
Rita Domingues
Marta Sirgado
Nádia Rei
Fernando Fonseca
Jorge Rosa Santos
Luís Sobrinho
Valeriano Leite
Endocrine Pathology, 2011, 22 : 44 - 52

← 1 2 3 4 5 →