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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and

《医学前沿（英文）》 doi: 10.1007/s11684-023-1006-x

摘要： Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine. Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation. Here, a Pakistani family with parental consanguinity was presented, characterized with severe intellectual disability (ID), spastic paraplegia, and deafness. Homozygosity mapping, integrated single nucleotide polymorphism (SNP) array, whole-exome sequencing, and whole-genome sequencing were performed, and homozygous variants in TMEM141 (c.270G>A, p.Trp90*), DDHD2 (c.411+767_c.1249-327del), and LHFPL5 (c.250delC, p.Leu84*) were identified. A Tmem141^{p.Trp90*/p.Trp90*} mouse model was generated. Behavioral studies showed impairments in learning ability and motor coordination. Brain slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje cells. Transmission electron microscopy showed abnormal mitochondrial morphology. Furthermore, studies on a human in vitro neuronal model (SH-SY5Y cells) with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function, possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse model. Conclusively, panoramic variation analysis revealed that multilocus genomic variations of TMEM141, DDHD2, and LHFPL5 together caused variable phenotypes in patient. Notably, the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

关键词： neurodevelopmental disorder autosomal recessive intellectual disability consanguinity spastic paraplegia hearing loss TMEM141

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Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome

DU Rong, TIAN Li, YUAN Guohui, LI Jin, REN Faxin, GUI Le, LI Wei, ZHANG Shouyan, KANG Cailian, YANG Junguo

《医学前沿（英文）》 2007年第1卷第3期页码 312-315 doi: 10.1007/s11684-007-0060-0

摘要： Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies, which cause syncope and sudden death. Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness, and the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), which is accompanied by congenital deafness. The LQTS-causing mutations have been reported in patients and families from Europe, North America and Japan. Few genetic studies have been carried out in families with JLNS from China. This study investigates the molecular pathology in four families with LQTS (including a family with JLNS) in the Chinese population. Polymerase chain reaction and DNA sequencing were used to screen for , , , and mutation. A missense mutation G314S in an RWS family was identified, and a single nucleotide polymorphism (SNP) G643S was indentified in the of the JLNS family. In this JLNS family, another heterozygous novel mutation in exon 2a was found in of the patients. Our data provide useful information for the identification of polymorphisms and mutations related to LQTS and the Brugada Syndrome (BS) in Chinese populations.

关键词： recessive Jervell LQTS-causing population autosomal dominant syndrome

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企业知识产权战略设计与核心竞争力

袁俊

《中国工程科学》 2004年第6卷第11期页码 88-92

摘要：

实施知识产权战略设计，构建知识产权赢利模式，对增强企业核心竞争力，具有深远的战略意义；针对企业在知识产权保护方面存在的问题，提出相应对策和建议。

关键词：知识产权技术创新核心竞争力

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数字时代的知识产权保护

Kamil Idris

《中国工程科学》 2000年第2卷第10期页码 4-7

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中国当代科学家的创造性人格

甘自恒

《中国工程科学》 2005年第7卷第5期页码 35-42

摘要：

探讨了两个问题：创造性人格概述；中国当代科学家创造性人格的基本素质。前者细分为什么是创造性人格，创造性人格的作用，中国当代科学家创造性人格的意义；后者从数十位有代表性的中国当代科学家的传记和相关文献中概括出中国科学家创造性人格的10种基本素质：高尚的理想和志向；爱国主义精神；善于合作的精神；善于提出和讨论问题的精神；善于综合、勇于创新的精神；甘于奉献、敢冒风险的精神；求实严谨的治学精神；逆境发愤、老当益壮的精神；尊敬师长、关爱晚辈的精神；争创一流、再创辉煌的精神。

关键词：科学家创造性人格非智力因素人格素质

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Protecting traditional knowledge of Chinese medicine: concepts and proposals

Changhua Liu, Man Gu

《医学前沿（英文）》 2011年第5卷第2期页码 212-218 doi: 10.1007/s11684-011-0142-x

摘要： With the development of the knowledge economy, knowledge has become one of the most important resources for social progress and economic development. Some countries have proposed measures for the protection of their own traditional knowledge. Traditional Chinese medicine belongs to the category of intangible cultural heritage because it is an important part of Chinese cultural heritage. Today the value of traditional knowledge of Chinese medicine has been widely recognized by the domestic and international public. This paper discusses the definition of traditional knowledge of Chinese medicine and its protection, and evaluates research on its classification. We review the present status of the protection of traditional knowledge of Chinese medicine and tentatively put forward some possible ideas and methods for the protection of traditional knowledge of Chinese medicine. Our goal is to find a way to strengthen the vitality of traditional Chinese medicine and consolidate its foundation. We believe that if we could establish a suitable ( is a Latin term meaning “of its own kind” and is often used in discussions about protecting the rights of indigenous peoples. Here we use it to emphasize the fact that protection of traditional knowledge of Chinese medicine cannot be achieved through existing legal means of protection alone due to its unique characteristics) system for traditional knowledge, a more favorable environment for the preservation and development of traditional Chinese medicine will ultimately be created.

关键词： protection of traditional knowledge traditional Chinese medicine intellectual property sui generis system

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Developing macromolecular therapeutics: the future drug-of-choice

Huining HE, Victor C. YANG, Weibing DONG, Junbo GONG, Jingkang WANG,

《化学科学与工程前沿（英文）》 2010年第4卷第1期页码 10-17 doi: 10.1007/s11705-009-0291-5

摘要： Macromolecular drugs including peptides, proteins, antibodies, polysaccharides and nucleic acids have been widely used for therapy of major diseases such as carcinoma and AIDS as well as cardiovascular and neurodegenerative disorders among other medical conditions. Due to their unmatched properties of high selectivity and efficiency, macromolecular drugs have been recognized as the drug-of-choice of the future. Since worldwide progress on macromolecular therapeutics still remains in the infant stage and is therefore wide open for equal-ground competition, R&D related to macromolecular drugs should be considered as the main point of focus in China in setting up its strategic plans in pharmaceutical development. In this article, research strategies and drug delivery approaches that should be adopted to enhance the therapeutic effects of macromolecular drugs are reviewed. In addition, comments concerning how to implement such strategies to excel from competition in this challenging research field, such as the design of innovative and highly effective delivery systems of macromolecular drugs with self-owned intellectual property rights, are provided.

关键词： worldwide challenging effective macromolecular self-owned intellectual