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| 1 | Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease显示文摘Marfan syndrome(MFS) is a systemic connective tissue disease principally affecting the ocular, skeletal and cardiovascular systems. This autosomal dominant disorder carries a prevalence of 1:3,000 to 1:5,000. This study aims to define the mutational spectrum of MFS related genes in Chinese patients and to establish genotype-phenotype correlations in MFS. Panel-based targeted next-generation sequencing was used to analyze the FBN1, TGFBR1 and TGFBR2 genes in 123 unrelated Chinese individuals with MFS or a related disease. Genotype-phenotype correlation analyses were performed in mutation-positive patients. The results showed that 97 cases/families(78.9%;97/123) harbor at least one(likely) pathogenic mutation, most of which were in FBN1;four patients had TGFBR1/2 mutations;and one patient harbored a SMAD3 mutation. Three patients had two FBN1 mutations, and all patients showed classical MFS phenotypes. Patients with a dominant negative-FBN1 mutation had a higher prevalence of ectopia lentis(EL). Patients carrying a haploinsufficiency-FBN1 mutation tended to have aortic dissection without EL. This study extends the spectrum of genetic backgrounds of MFS and enriches our knowledge of genotype-phenotype correlations. | Jiacheng Li Chaoxia Lu Wei Wu Yaping Liu Rongrong Wang Nuo Si Xiaolu Meng Shuyang Zhang Xue Zhang | 2019 | Science China(Life Sciences)2019，62，12： | 4 |
| 2 | Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression显示文摘Familial acne inversa (AI) is an autoinflammatory disorder that affects hair follicles and is caused by loss-of-function mutations in y-secretase component genes.We and other researchers showed that nicastrin (NCSTN) is the most frequently mutated gene in familial AI.In this study,we generated a keratin 5-Cre-driven epidermis-specific Ncstn conditional knockout mutant in mice.We determined that this mutant recapitulated the major phenotypes of AI,including hyperkeratosis of hair follicles and inflammation.In Ncstnflox/flox;K5-Cre mice,the IL-36a expression level markedly increased starting from postnatal day 0 (P0),and this increase occurred much earlier than those of TNF-α,IL-23A,IL-1 3,and TLR4.RNA-Seq analysis indicated that Sprr2d,a member of the small proline-rich protein 2 family,in the skin tissues of the Ncstnflox/flox,;K5-Cre mice was also upregulated on P0.Quantitative reverse-transcription polymerase chain reaction showed that other Sprr2 genes had a similar expression pattern.Our findings suggested that IL-36a might be a key inflammatory cytokine in the pathophysiology of AI and implicate malfunction of the skin barrier in the pathogenesis of AI. | Jun Yang Lianqing Wang Yingzhi Huang Keqiang Liu Chaoxia Lu Nuo Si Rongrong Wang Yaping Liu Xue Zhang | 2020 | Frontiers of Medicine2020，14，3： | 2 |
| 3 | Exploring novel bioactive compounds from marine microbes显示文摘 | Lixin Zhang Rong An Jinping Wang Nuo Sun Si Zhang Jiangchun Hu Jun Kuai | 2005 | Current Opinion in Microbiology2005，，3： | 2 |
| 4 | Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy显示文摘To the Editor:The human four and a half LIM domain 1 (FHL1) gene,located on Xq26.3,encodes for a protein with only LIM domains.LIM domains,named after their initial discovery in the proteins Lin11,Isl-1,and Mec-3,are cysteine-rich protein motifs composed of two contiguous zinc finger domains separated by a two-amino acid residue hydrophobic linker. | Bing-Qing Zhang Nuo Si Dong-Fang Liu | 2015 | Chinese Medical Journal2015，，16： | 1 |
| 5 | Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome显示文摘 | Jia-Wei Liu Nuo Si Lian-Qing Wang Ti Shen Xue-Jun Zeng Xue Zhang Dong-Lai Ma | 2015 | Chinese Medical Journal2015，，10： | 1 |
| 6 | Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia:evidence of digenic inheritance显示文摘Dear Editor,Craniofacial microsomia(CFM,MIM#164210)is a congenital malformation involving the first and second branchial arch derivatives.The phenotype of CFM is highly variable and typically affects the external ear,middle ear,mandible and temporomandibular joint,and facial muscles on the affected side.Accompanied by craniofacial anomalies,cardiac,vertebral,and central nervous system defects may occur.Microtia is considered the minimum diagnostic criterion[1,2]. | Nuo Si Guoqin Zhan Xiaolu Meng Zeya Zhang Xin Huang Bo Pan | 2023 | Frontiers of Medicine2023，17，5： | 0 |
| 7 | Genetic Testing of the mucin I gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease显示文摘 | Nuo Si Ke Zheng Jie Ma Xiao-Lu Meng Xue-Mei Li Xue Zhang | 2017 | Chinese Medical Journal2017，，20： | 0 |
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