Cockayne syndrome: Clinical features, model systems and pathways.
Cockayne syndrome: Clinical features, model systems and pathways.
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DOI：
10.1016/j.arr.2016.08.002
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发表时间：
2017-01
影响因子：
13.1
通讯作者：
Bohr, Vilhelm A.
中科院分区：
文献类型：
--
作者：
Karikkineth, Ajoy C.;Scheibye-Knudsen, Morten;Fivenson, Elayne;Croteau, Deborah L.;Bohr, Vilhelm A.
Cockayne综合征(CS)是一种以恶病质侏儒症为特征的疾病，严重的神经系统表现包括小头畸形和认知障碍，色素视网膜病，白内障，感音神经性耳聋，以及行走和喂养困难，平均导致12岁前死亡。这是一种常染色体隐性遗传病，患病率约为2.5‰。有几种表型(1、2和3)和互补型(CsA和CSB)，并与着色性干皮病(XP)重叠。它被认为是一种早衰症，许多临床特征类似于加速衰老。因此，对CS的研究为更好地了解衰老的潜在机制提供了机会。传统上，CS的分子基础被认为是由于转录和转录偶联核苷酸切除修复(TC-NER)的缺陷。然而，最近的研究表明，碱基切除、DNA修复和线粒体功能方面的缺陷也可能起到关键作用。这打开了分子干预CS的可能性，并通过外推，可能在衰老。
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1, 2 and 3) and complementation groups (CSA and CSB), and overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been considered to be due to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility of molecular interventions in CS, and by extrapolation, possibly in aging.
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影响因子：
14.9
作者：
Berquist BR;Canugovi C;Sykora P;Wilson DM 3rd;Bohr VA
通讯作者：
Bohr VA
影响因子：
5.3
作者：
Citterio, E;Van Den Boom, V;Vermeulen, W
通讯作者：
Vermeulen, W
影响因子：
2.8
作者：
BOLTSHAUSER, E;YALCINKAYA, C;VALAVANIS, A
通讯作者：
VALAVANIS, A
影响因子：
4
作者：
Bradford PT;Goldstein AM;Tamura D;Khan SG;Ueda T;Boyle J;Oh KS;Imoto K;Inui H;Moriwaki S;Emmert S;Pike KM;Raziuddin A;Plona TM;DiGiovanna JJ;Tucker MA;Kraemer KH
通讯作者：
Kraemer KH
影响因子：
4.8
作者：
Aamann, Maria D.;Sorensen, Martin M.;Bohr, Vilhelm A.
通讯作者：
Bohr, Vilhelm A.