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Krantz ID McCallum J DeScipio C Kaur M Gillis LA Yaeger D Jukofsky L Wasserman N Bottani A Morris CA Nowaczyk MJ Toriello H Bamshad MJ Carey JC Rappaport E Kawauchi S Lander AD Calof AL Li HH Devoto M Jackson LG 《Nature genetics》2004,36(6):631-635
Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features. Genital anomalies, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, hearing loss and autistic and self-injurious tendencies also frequently occur. Prevalence is estimated to be as high as 1 in 10,000 (ref. 4). We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. We identified mutations in one gene in this region, which we named NIPBL, in four sporadic and two familial cases of CdLS. We characterized the genomic structure of NIPBL and found that it is widely expressed in fetal and adult tissues. The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster. 相似文献
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本文调查了上海市百岁老人的性别、职业和谱系,并绘制了57个完整的寿命谱系图,其中男性10名(占总数的17.5%),女性47名(占82.5%).男性中脑力劳动者4名(占男性总数的40%),体力劳动者6名(占60%);女性中脑力劳动者1人(占女性总数的2.1%),体力劳动者3人(占6.4%),操持家务者43人(占91.5%).有长寿家族史者40人(占寿命家族史清楚者的70.2%),无长寿家族史者17人(占29.8%).百岁老人配偶寿长≥70岁者,其已故子女的平均寿命高于配偶<70岁的.作者认为长寿是遗传的,并着重从遗传和环境两方面分析了女寿星数明显多于男寿星数的原因. 相似文献
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艾摩尔 《华东师范大学学报(自然科学版)》2004,2004(1):40-44
在二次损失函数下,作者研究了多元线性模型协方差矩阵的MINQUE估计和简单估计的比较问题,其中多元线性模型的设计矩阵和离散矩阵可以不满秩,得到了一个充分和必要条件。 相似文献
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心肌宁冲剂按1.75g/kg,0.875g/kg剂量,每天早晚分两次灌胃给药,连续7天,均能明显对抗垂体后叶素所诱发的大鼠急性心肌缺血的心电图改变。 相似文献
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该文通过34只罗猴头颈实验研究,从中决定罗猴的颅脑损伤容限.当颅脑受到冲击时,颅壳发生局部变形瞬间,大脑亦发生变形,致使颅内压升高.利用这些结果来确定它的损伤机制,以模拟宇航员在冲击载荷下的创伤分析模型,将有助于进行临床创伤治疗和宇航弹射时的防护. 相似文献
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