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| 1 | Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss显示文摘We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation (c.647G→A) in the POU3F4 gene caused a substitu- tion from glycine to glutamic acid at position 216 (p.G216E), and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A muta- tion in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families. | Jianzhong Li Jing Cheng Yanping Lu Yu Lu Airing Chen YiSun Dongyang Kang Xin Zhang Pu Dai Dongyi Han Huijun Yuan | 2010 | Journal of Genetics and Genomics2010，37，12： | 9 |
| 2 | Identification of two novel missense WFS1 mutations,H696Y and R703H,in patients with non-syndromic low-frequency sensorineural hearing loss显示文摘Non-syndromic 低频率的 sensorineural 听觉损失(LFSNHL ) 是听见在频率, 2000 Hz 主要被影响的损失的一种不平常的类型。迄今为止,在二基因, DIAPH1 和 WFS1 的不同变化,被发现了与 LFSNHL 被联系。这里,我们与 postlingual 和进步 LFSNHL 报导一个五产生的中国家庭。我们在在标记 SNP_A-2167174 和 D4S431 之间的染色体 4p16 上印射疾病地点到 2.5 Mb 区域,与 DFNA6/14/38 地点重叠。候选人基因定序揭示了异质接合的 c.2086C > 在 exon 的 T 替换 8 WFS1,在 Wolframin (WFS1 ) 的 C 终点导致 p.H696Y 替换。另外,我们执行了在 37 个分散的病人, WFS1 屏蔽的 mutational 750 岁,与 LFSNHL。我们检测了异质接合的 c.2108G > 在 exon 的替换 8 WFS1,在一个病人导致 p.R703H 替换。在 WFS1 的 H696 和 R703 高度越过种类被保存,包括人,猩猩,老鼠,老鼠,和青蛙(Xenopus ) 。顺序分析表明了 c.2086C 的缺席 > T 或 c.2108G > 在在中国背景的 200 个无关的控制题目之中的 WFS1 基因的 A 替换,支持他们代表的假设原因的变化,和不稀罕的多型性。我们的数据为为 LFSNHL 建立更好的 genotypephenotype 关联提供另外的分子、临床的信息。 | Yi Sun Jing Cheng Yanping Lu Jianzhong Li Yu Lu Zhanguo Jin Pu Dai Rongguang Wang Huijun Yuan | 2011 | Journal of Genetics and Genomics2011，38，2： | 2 |
| 3 | A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening显示文摘Charcot-Marie-Tooth(CMT)disease is the most common hereditary neuropathy,with a population prevalence of 1 in2500.CMT disease type 1A(CMT1A),accounting for w70%of CMT1 cases and w50%of all CMT cases,is transmitted in an autosomal dominant manner.CMT1A maps to chromosome 17p11.2 and is caused,in the majority of cases,by a 1.4- | Baoheng Gui Pu Yang Zhongyuan Yao Yanping Li Donge Liu Nenghui Liu Sijia Lu Desheng Liang Lingqian Wu | 2016 | Journal of Genetics and Genomics2016，43，3： | 1 |
| 4 | Room-Temperature Magnetism of Ceria Nanocubes by Inductively Transferring Electrons to Ce Atoms from Nearby Oxygen Vacancy显示文摘Ceria(CeO_2) nanocubes were synthesized by a hydrothermal method and weak ferromagnetism was observed in room temperature. After ultraviolet irradiation, the saturation magnetization was significantly enhanced from*3.18×10^(-3) to *1.89×10^(-2) emug^(-1). This is due to the increase of oxygen vacancies in CeO_2 structure which was confirmed by X-ray photoelectron spectra. The first-principle calculation with Vienna ab-initio simulation package was used to illustrate the enhanced ferromagnetism mechanism after calculating the density of states(DOSs) and partial density of states(PDOSs) of CeO_2 without and with different oxygen vacancies. It was found that the increase of oxygen vacancies will enlarge the PDOSs of Ce 4f orbital and DOSs. Two electrons in one oxygen vacancy are respectively excited to 4f orbital of two Ce atoms neighboring the vacancy, making these electron spin directions on 4f orbitals of these two Ce atoms parallel. This superexchange interaction leads to the formation of ferromagnetism in CeO_2 at room temperature. Our work indicates that ultraviolet irradiation is an effective method to enhance the magnetism of CeO_2 nanocube, and the firstprinciple calculation can understand well the enhanced magnetism. | Yue Kang Qiang Leng Donglin Guo Dezhi Yang Yanping Pu Chenguo Hu | 2016 | Nano-Micro Letters2016，8，1： | 1 |
| 5 | Functional Mutation of SMAC / DIABLO , Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64显示文摘 | Jing Cheng Yuhua Zhu Sudan He Yanping Lu Jing Chen Bing Han Marco Petrillo Kazimierz O. Wrzeszczynski Shiming Yang Pu Dai Suoqiang Zhai Dongyi Han Michael Q. Zhang Wei Li Xuezhong Liu Huawei Li Zheng-Yi Chen Huijun Yuan | 2011 | The American Journal of Human Genetics2011，，1： | 1 |
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