IMAGe association and congenital adrenal hypoplasia:: No disease-causing mutations found in the ACD gene
IMAGe association and congenital adrenal hypoplasia:: No disease-causing mutations found in the ACD gene
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DOI：
10.1016/j.ymgme.2006.01.006
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发表时间：
2006-05-01
影响因子：
3.8
通讯作者：
Keegan, CE
中科院分区：
文献类型：
--
作者：
Hutz, JE;Krause, AS;Keegan, CE
自发突变的小鼠肾上腺皮质发育不良(ACD)的特征是成年突变小鼠的肾上腺、肾脏和性腺的缺陷，以及ACD胚胎的尾部发育不全和椎体节段缺陷。这种缺陷的关联反映了已知或怀疑肾上腺皮质发育异常的患者的情况，包括肾上腺发育不全和图像关联。在小鼠中发现了ACD基因，这促使了对其人类同源ACD的研究，ACD最近被证明是端粒长度的调节因子。15名患者的ACD测序未发现编码突变，但发现了3个新的SNPs。(C)2006 Elsevier Inc.保留所有权利。
The spontaneous mouse mutant adrenocortical dysplasia (acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in acd embryos. This association of defects mirrors those identified in patients with known or suspected abnormalities in adrenocortical development, including adrenal hypoplasia congenita and IMAGe association. The identification of the Acd gene in mice has prompted the study of its human homolog ACD, which has recently been shown to be a regulator of telomere length. Sequencing of ACD in 15 patients revealed no coding mutations, but three novel SNPs were identified. (c) 2006 Elsevier Inc. All rights reserved.