Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine.
作者信息
Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, Houdent C, Pallo D, Schlumberger M, Thivolet C, Lenoir G M
出版信息
Am J Hum Genet. 1997 Jan;60(1):233-7.
Abstract
摘要
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Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine.伴有RET原癌基因634密码子突变的2A型多发性内分泌腺瘤病家族中，原发性甲状旁腺功能亢进症的风险和外显率。降钙素肿瘤研究小组。
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RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma.2型多发性内分泌腺瘤病和甲状腺髓样癌中的RET原癌基因突变
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Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family.家族性甲状腺髓样癌：并非一个独特的实体？一个大家族中的基因型-表型相关性
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A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.导致家族性甲状腺髓样癌和2A型多发性内分泌腺瘤病的原癌基因ret突变的一个新热点。
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[From gene to disease; from the RET gene to multiple endocrine neoplasia types 2A and 2B, sporadic and familial medullary thyroid carcinoma, Hirschsprung disease and papillary thyroid carcinoma].[从基因到疾病；从RET基因到2A和2B型多发性内分泌腺瘤、散发性和家族性甲状腺髓样癌、先天性巨结肠病及甲状腺乳头状癌]
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本文引用的文献
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Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.
J Clin Endocrinol Metab. 1996 Oct;81(10):3740-5. doi: 10.1210/jcem.81.10.8855832.
2
Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2.
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GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF.胶质细胞源性神经营养因子（GDNF）诱导的ret蛋白酪氨酸激酶激活是由GDNF的新型受体GDNFR-α介导的。
Cell. 1996 Jun 28;85(7):1113-24. doi: 10.1016/s0092-8674(00)81311-2.
4
Functional receptor for GDNF encoded by the c-ret proto-oncogene.由原癌基因c-ret编码的GDNF功能性受体。
Nature. 1996 Jun 27;381(6585):785-9. doi: 10.1038/381785a0.
5
Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B.一名新发MEN 2B患者的RET原癌基因酪氨酸激酶结构域存在两个母系来源的错义突变。
Hum Mol Genet. 1995 Oct;4(10):1987-8. doi: 10.1093/hmg/4.10.1987.
6
A polymorphic dinucleotide repeat at the ZNF22 locus.锌指蛋白22（ZNF22）基因座处的一个多态性二核苷酸重复序列。
Hum Mol Genet. 1993 Apr;2(4):491.
7
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.2A型多发性内分泌腺瘤病中RET原癌基因的种系突变。
Nature. 1993 Jun 3;363(6428):458-60. doi: 10.1038/363458a0.
8
A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus.一条来自人类10号染色体长臂11.2区的150万个碱基对的酵母人工染色体重叠群，它连接了与MEN2A基因座紧密连锁的三个基因位点（RET、D10S94和D10S102）。
Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):492-6. doi: 10.1073/pnas.90.2.492.
9
Parent-of-origin effects in multiple endocrine neoplasia type 2B.2B型多发性内分泌腺瘤病中的亲本来源效应
Am J Hum Genet. 1994 Dec;55(6):1076-82.
10
Parental origin effects, genome imprinting, and sex-ratio distortion: double or nothing?亲本来源效应、基因组印记与性别比例畸变：双倍还是全无？
Am J Hum Genet. 1994 Dec;55(6):1073-5.
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