The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.
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SDH 突变数据库：涉及嗜铬细胞瘤、副神经节瘤和线粒体复合物 II 缺陷的琥珀酸脱氢酶序列变异的在线资源。
DOI：
10.1186/1471-2350-6-39
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发表时间：
2005-11-16
影响因子：
--
通讯作者：
Taschner, PEM
中科院分区：
文献类型：
--
作者：
Bayley, JP;Devilee, P;Taschner, PEM
SDHA、SDHB、SDHC和SDHD基因编码琥珀酸脱氢酶亚基（琥珀酸：泛醌氧化还原酶），这是克雷布斯循环和线粒体呼吸链的一个组成部分。黄蛋白SDHA和铁硫蛋白SDHB共同构成催化结构域，而SDHC和SDHD编码膜锚点，使复合物作为复合物II参与呼吸链。SDHD和SDHB的种系突变是副神经节瘤和嗜铬细胞瘤遗传形式的主要原因。最大的亚基SDHA在Leigh综合征和迟发性视神经萎缩患者中发生突变，但尚未被确定为遗传性癌症的一个因素。SDH突变数据库是基于最近描述的Leiden开放（源）变异数据库（LOVD）系统。目前在数据库中描述的变异是从已发表的文献中提取的，在某些情况下进行了注释，以符合当前的突变命名法。研究人员还可以直接在网上提交新的序列变体。自2000年和2001年SDHD、SDHC和SDHB被确定为经典的肿瘤抑制基因以来，来自世界各地研究小组的研究共发现了120种变体。在这里，我们介绍了所有报道的副神经节瘤和嗜铬细胞瘤相关的基因序列变异，以及所有报道的SDHA突变。该数据库现在可以在线访问。SDH突变数据库为参与副神经节瘤-嗜铬细胞瘤患者治疗的临床医生、需要概述当前知识的临床遗传学家以及需要进一步探索这些肿瘤综合征和sdha相关表型的遗传学家和其他研究人员提供了宝贵的工具和资源。
The SDHA, SDHB, SDHC and SDHD genes encode the subunits of succinate dehydrogenase (succinate: ubiquinone oxidoreductase), a component of both the Krebs cycle and the mitochondrial respiratory chain. SDHA, a flavoprotein and SDHB, an iron-sulfur protein together constitute the catalytic domain, while SDHC and SDHD encode membrane anchors that allow the complex to participate in the respiratory chain as complex II. Germline mutations of SDHD and SDHB are a major cause of the hereditary forms of the tumors paraganglioma and pheochromocytoma. The largest subunit, SDHA, is mutated in patients with Leigh syndrome and late-onset optic atrophy, but has not as yet been identified as a factor in hereditary cancer. The SDH mutation database is based on the recently described Leiden Open (source) Variation Database (LOVD) system. The variants currently described in the database were extracted from the published literature and in some cases annotated to conform to current mutation nomenclature. Researchers can also directly submit new sequence variants online. Since the identification of SDHD, SDHC, and SDHB as classic tumor suppressor genes in 2000 and 2001, studies from research groups around the world have identified a total of 120 variants. Here we introduce all reported paraganglioma and pheochromocytoma related sequence variations in these genes, in addition to all reported mutations of SDHA. The database is now accessible online. The SDH mutation database offers a valuable tool and resource for clinicians involved in the treatment of patients with paraganglioma-pheochromocytoma, clinical geneticists needing an overview of current knowledge, and geneticists and other researchers needing a solid foundation for further exploration of both these tumor syndromes and SDHA-related phenotypes.
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SDH 突变数据库：涉及嗜铬细胞瘤、副神经节瘤和线粒体复合物 II 缺陷的琥珀酸脱氢酶序列变异的在线资源。
影响因子：
--
作者：
Bayley, JP;Devilee, P;Taschner, PEM
通讯作者：
Taschner, PEM
影响因子：
9.8
作者：
Astuti, D;Latif, F;Maher, ER
通讯作者：
Maher, ER
影响因子：
3.2
作者：
Astuti, D;Hart-Holden, N;Maher, ER
通讯作者：
Maher, ER
影响因子：
4
作者：
Baysal, BE;Willett-Brozick, JE;Rubinstein, WS
通讯作者：
Rubinstein, WS
影响因子：
3.9
作者：
Fokkema, IFAC;den Dunnen, JT;Taschner, PEM
通讯作者：
Taschner, PEM