Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

MicroRNAs (miRNAs) are key regulators of gene expression in animals and plants. Studies in a variety of model organisms show that miRNAs modulate developmental processes. To our knowledge, the only hereditary condition known to be caused by a miRNA is a form of adult-onset non-syndromic deafness, and no miRNA mutation has yet been found to be responsible for any developmental defect in humans. Here we report the identification of germline hemizygous deletions of MIR17HG, encoding the miR-17～92 polycistronic miRNA cluster, in individuals with microcephaly, short stature and digital abnormalities. We demonstrate that haploinsufficiency of miR-17～92 is responsible for these developmental abnormalities by showing that mice harboring targeted deletion of the miR-17～92 cluster phenocopy several key features of the affected humans. These findings identify a regulatory function for miR-17～92 in growth and skeletal development and represent the first example of an miRNA gene responsible for a syndromic developmental defect in humans.     

半导体高功率量子阱激光器退火后的电噪声

在环境温度和工作电流下, 对808 nm高功率量子阱激光器进行老化实验, 发现在老化过程中一些劣质器件电噪声谱密度呈下降趋势, 产生退火效应. 本文应用初始性缺陷（高温高能条件下所形成的缺陷）和非初始性缺陷理论, 探讨了器件发生退火及早期失效的原因.     

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by dysregulated platelet formation. The mutation yields a cytochrome c variant with enhanced apoptotic activity in vitro. Notably, the family has no other phenotypic indication of abnormal apoptosis, implying that cytochrome c activity is not a critical regulator of most physiological apoptosis.     

电解还原法制L-半胱氨酸盐酸盐电解工艺条件的研究

本文用自制板框式电解槽对电解还原制备L-半胱氨酸盐酸盐的工艺条件,如电解终止时间的判断、电极、电解质溶液、隔膜……等进行了一系列的选择和研究。特别是采用电解液外循环工艺,研究了循环流速对电解还原速度的影响,以及流速和电流密度等诸因素的关系。     

腎钙乳沉积症(附1例报告及文献复习)

本文报告1例罕见的肾钙乳沉积症,本症是肾盂源性囊肿内有钙乳沉积,分为两类;第一类,钙乳沉积于扩大的肾盂源性囊肿内,肾功能正常,占多数;第二类,有明显的肾积水和肾盏扩张,合并多发性钙乳沉积,肾功能差,属少数。病理检查,肾囊肿囊壁有肾单位存在,估计是由于集合管梗阻而形成的囊肿,经年累月接受其所属肾单位分泌的微量尿液,在浓缩功能差的情况下,潴留囊肿内的晶体便保持糊状微粒状态。本例钙乳沉积物的化学分析表明,其成份含有9种元素,其中以钙、铝、硅、及镁含量最多。x线检查的特征性图像是诊断本症的主要方法。囊肿去盖术对本症是一种安全而有效的术式。     

The interaction of protamine with human blood plasma proteins

Zusammenfassung Es wurden Interaktionen von Protamin mit vorher in Agar-Gel elektrophoretisch getrennten plasmatischen Eiweisskörpern untersucht. Neben der schon früher bekannten Interaktion mit Fibrinogen wurden auch solche mit beiden Klassen der plasmatischen Lipoproteine gefunden.