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A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort.

作者信息

Guarnieri Vito, Baorda Filomena, Battista Claudia, Bisceglia Michele, Balsamo Teresa, Gruppioni Elisa, Fiorentino Michelangelo, Muscarella Lucia A, Coco Michelina, Barbano Raffaela, Corbetta Sabrina, Spada Anna, Cole David E C, Canaff Lucie, Hendy Geoffrey N, Carella Massimo, Scillitani Alfredo

出版信息

Endocrine. 2012 Feb;41(1):152-5. doi: 10.1007/s12020-011-9558-y. Epub 2011 Nov 18.

DOI:10.1007/s12020-011-9558-y
PMID:22095489
Abstract
摘要

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1
A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort.在意大利原发性甲状旁腺功能亢进队列中发现的一例甲状旁腺腺瘤中，编码β-连环蛋白的CTNNB1基因发生罕见的S33C突变。
Endocrine. 2012 Feb;41(1):152-5. doi: 10.1007/s12020-011-9558-y. Epub 2011 Nov 18.
2
Evidence of a stabilizing mutation of β-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas.CTNNB1 外显子 3 编码的 β-连环蛋白稳定突变的证据存在于一大系列散发甲状旁腺腺瘤中。
Endocrine. 2012 Dec;42(3):612-5. doi: 10.1007/s12020-012-9690-3. Epub 2012 May 11.
3
Lack of S37A CTNNB1/β-catenin mutations in a Swedish cohort of 98 parathyroid adenomas.瑞典98例甲状旁腺腺瘤队列中无S37A CTNNB1/β-连环蛋白突变
Clin Endocrinol (Oxf). 2010 Oct;73(4):552-3. doi: 10.1111/j.1365-2265.2010.03830.x.
4
Absence of stabilizing mutations of beta-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas.在大量散发性甲状旁腺腺瘤中，CTNNB1外显子3编码的β-连环蛋白不存在稳定突变。
J Clin Endocrinol Metab. 2007 Apr;92(4):1564-6. doi: 10.1210/jc.2006-2554. Epub 2007 Feb 6.
5
Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.在瑞典患者的大量甲状旁腺肿瘤中分析CTNNB1/β-连环蛋白的稳定突变和蛋白质积累情况。
Mol Cancer. 2008 Jun 9;7:53. doi: 10.1186/1476-4598-7-53.
6
Ruling out a suspect: the role of beta-catenin mutation in benign parathyroid neoplasia.
J Clin Endocrinol Metab. 2007 Apr;92(4):1235-6. doi: 10.1210/jc.2007-0314.
7
Immunohistochemistry of cyclin D1 and beta-catenin, and mutational analysis of exon 3 of beta-catenin gene in parathyroid adenomas.甲状旁腺腺瘤中细胞周期蛋白D1和β-连环蛋白的免疫组织化学以及β-连环蛋白基因第3外显子的突变分析。
Int J Oncol. 2002 Mar;20(3):463-6.
8
EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.EZH2和ZFX癌基因在甲状旁腺肿瘤恶性行为中的作用
Endocrine. 2016 Oct;54(1):55-59. doi: 10.1007/s12020-016-0892-y. Epub 2016 Feb 15.
9
Familial hyperparathyroidism. Medical and surgical considerations.家族性甲状旁腺功能亢进症。医学与外科方面的考量。
JAMA. 1968 May 6;204(6):542-4. doi: 10.1001/jama.204.6.542.
10
Familial hyperparathyroidism.家族性甲状旁腺功能亢进症。
Arch Dis Child. 1980 Feb;55(2):146-7. doi: 10.1136/adc.55.2.146.

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Sporadic parathyroid adenoma: an updated review of molecular genetics.散发性甲状旁腺腺瘤：分子遗传学的最新综述。
Front Endocrinol (Lausanne). 2023 May 8;14:1180211. doi: 10.3389/fendo.2023.1180211. eCollection 2023.
2
Molecular and Clinical Spectrum of Primary Hyperparathyroidism.原发性甲状旁腺功能亢进的分子和临床谱。
Endocr Rev. 2023 Sep 15;44(5):779-818. doi: 10.1210/endrev/bnad009.
3
The Core Stem Genes , , and Are Expressed in Human Parathyroid Tumors and Modulated by , , and β-catenin Pathways Activation.核心干细胞基因、和在人甲状旁腺肿瘤中表达，并受、和β-连环蛋白信号通路激活的调节。

本文引用的文献

1
Lack of S37A CTNNB1/β-catenin mutations in a Swedish cohort of 98 parathyroid adenomas.瑞典98例甲状旁腺腺瘤队列中无S37A CTNNB1/β-连环蛋白突变
Clin Endocrinol (Oxf). 2010 Oct;73(4):552-3. doi: 10.1111/j.1365-2265.2010.03830.x.
2
Beta-catenin activation is not involved in sporadic parathyroid carcinomas and adenomas.β-连环蛋白激活不参与散发性甲状旁腺癌和腺瘤。
Endocr Relat Cancer. 2010 Jan 29;17(1):1-6. doi: 10.1677/ERC-09-0147. Print 2010 Mar.
3
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas.
Biomedicines. 2021 Jun 2;9(6):637. doi: 10.3390/biomedicines9060637.
4
Diagnosis, management, histology and genetics of sporadic primary hyperparathyroidism: old knowledge with new tricks.散发性原发性甲状旁腺功能亢进症的诊断、管理、组织学及遗传学：旧知识与新方法
Endocr Connect. 2018 Feb;7(2):R56-R68. doi: 10.1530/EC-17-0283. Epub 2018 Jan 12.
5
Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.原发性甲状旁腺功能亢进症中的分子遗传学：基因检测在鉴别诊断、疾病预防策略及治疗规划中的作用。2017年更新版。
Clin Cases Miner Bone Metab. 2017 Jan-Apr;14(1):60-70. doi: 10.11138/ccmbm/2017.14.1.060. Epub 2017 May 30.
6
EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.EZH2和ZFX癌基因在甲状旁腺肿瘤恶性行为中的作用
Endocrine. 2016 Oct;54(1):55-59. doi: 10.1007/s12020-016-0892-y. Epub 2016 Feb 15.
7
Epigenetic alterations in human parathyroid tumors.人类甲状旁腺肿瘤中的表观遗传改变。
Endocrine. 2015 Jun;49(2):324-32. doi: 10.1007/s12020-015-0555-4. Epub 2015 Feb 27.
8
Genetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumors.散发性内分泌肿瘤的遗传和表观遗传变化：甲状旁腺肿瘤。
Mol Cell Endocrinol. 2014 Apr 5;386(1-2):46-54. doi: 10.1016/j.mce.2013.09.005. Epub 2013 Sep 11.
9
Allelic imbalance in sporadic parathyroid carcinoma and evidence for its de novo origins.散发性甲状旁腺癌的等位基因失衡及其从头起源的证据。
Endocrine. 2013 Oct;44(2):489-95. doi: 10.1007/s12020-013-9903-4. Epub 2013 Feb 24.
10
Evidence of a stabilizing mutation of β-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas.CTNNB1 外显子 3 编码的 β-连环蛋白稳定突变的证据存在于一大系列散发甲状旁腺腺瘤中。
Endocrine. 2012 Dec;42(3):612-5. doi: 10.1007/s12020-012-9690-3. Epub 2012 May 11.
甲状旁腺癌中Wnt信号通路成分腺瘤性息肉病基因和糖原合酶激酶3β的表达缺失
Int J Oncol. 2009 Feb;34(2):481-92.
4
Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.在瑞典患者的大量甲状旁腺肿瘤中分析CTNNB1/β-连环蛋白的稳定突变和蛋白质积累情况。
Mol Cancer. 2008 Jun 9;7:53. doi: 10.1186/1476-4598-7-53.
5
Ruling out a suspect: the role of beta-catenin mutation in benign parathyroid neoplasia.
J Clin Endocrinol Metab. 2007 Apr;92(4):1235-6. doi: 10.1210/jc.2007-0314.
6
Absence of stabilizing mutations of beta-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas.在大量散发性甲状旁腺腺瘤中，CTNNB1外显子3编码的β-连环蛋白不存在稳定突变。
J Clin Endocrinol Metab. 2007 Apr;92(4):1564-6. doi: 10.1210/jc.2006-2554. Epub 2007 Feb 6.
7
Accumulation of nonphosphorylated beta-catenin and c-myc in primary and uremic secondary hyperparathyroid tumors.原发性和尿毒症继发性甲状旁腺肿瘤中未磷酸化β-连环蛋白和c-myc的积累。
J Clin Endocrinol Metab. 2007 Jan;92(1):338-44. doi: 10.1210/jc.2006-1197. Epub 2006 Oct 17.
8
Epidemiology of primary hyperparathyroidism in Europe.欧洲原发性甲状旁腺功能亢进症的流行病学
J Bone Miner Res. 2002 Nov;17 Suppl 2:N18-23.
9
Nuclear Accumulation of B-Catenin in Human Endocrine Tumors: Association with Ki-67 (MIB-1) Proliferative Activity.
Endocr Pathol. 2000 Autumn;11(3):243-250. doi: 10.1385/ep:11:3:243.
10
Immunohistochemistry of cyclin D1 and beta-catenin, and mutational analysis of exon 3 of beta-catenin gene in parathyroid adenomas.甲状旁腺腺瘤中细胞周期蛋白D1和β-连环蛋白的免疫组织化学以及β-连环蛋白基因第3外显子的突变分析。
Int J Oncol. 2002 Mar;20(3):463-6.