7 results on '"He, Feng"'
Search Results
2. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing
- Author
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Jun-Yu Zhang, Chenming Xu, Songchang Chen, Yu-Qian Xiang, Yinghua Shen, He-Feng Huang, Chunxin Chang, Yiyao Chen, Lanlan Zhang, and Shuyuan Li
- Subjects
Male ,0301 basic medicine ,Proband ,Genetic Screens ,Molecular biology ,Maternal Health ,Gene Identification and Analysis ,lcsh:Medicine ,Artificial Gene Amplification and Extension ,Biochemistry ,Polymerase Chain Reaction ,Sequencing techniques ,0302 clinical medicine ,Pregnancy ,Prenatal Diagnosis ,Medicine and Health Sciences ,DNA sequencing ,Signaling Lymphocytic Activation Molecule Associated Protein ,Frameshift Mutation ,lcsh:Science ,Immunodeficiency ,Sanger sequencing ,Genetics ,Multidisciplinary ,medicine.diagnostic_test ,Messenger RNA ,Obstetrics and Gynecology ,High-Throughput Nucleotide Sequencing ,Genomics ,Pedigree ,Nucleic acids ,030220 oncology & carcinogenesis ,Amniocentesis ,symbols ,Female ,Research Article ,Adult ,Immunology ,Prenatal diagnosis ,Frameshift mutation ,Immune Deficiency ,03 medical and health sciences ,symbols.namesake ,Genomic Medicine ,Diagnostic Medicine ,medicine ,Humans ,Genetic Testing ,RNA, Messenger ,Genetic testing ,Clinical Genetics ,business.industry ,lcsh:R ,Dideoxy DNA sequencing ,Biology and Life Sciences ,Human Genetics ,Reverse Transcriptase-Polymerase Chain Reaction ,medicine.disease ,Lymphoproliferative Disorders ,Nonsense Mediated mRNA Decay ,Research and analysis methods ,Molecular biology techniques ,030104 developmental biology ,Mutation ,Primary immunodeficiency ,Women's Health ,RNA ,Clinical Immunology ,lcsh:Q ,Clinical Medicine ,business - Abstract
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1.
- Published
- 2017
3. Conserved mRNA-granule component Scd6 targets Dhh1 to repress translation initiation and activates Dcp2-mediated mRNA decay in vivo.
- Author
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Zeidan, Quira, Zhang, Fan, Zhang, Hongen, Hinnebusch, Alan G., He, Feng, and Jacobson, Allan
- Subjects
MESSENGER RNA ,PROTEINS ,RNA-protein interactions ,PROTEIN expression ,RIBOSOMES ,RNA sequencing - Abstract
Scd6 protein family members are evolutionarily conserved components of translationally silent mRNA granules. Yeast Scd6 interacts with Dcp2 and Dhh1, respectively a subunit and a regulator of the mRNA decapping enzyme, and also associates with translation initiation factor eIF4G to inhibit translation in cell extracts. However, the role of Scd6 in mRNA turnover and translational repression in vivo is unclear. We demonstrate that tethering Scd6 to a GFP reporter mRNA reduces mRNA abundance via Dcp2 and suppresses reporter mRNA translation via Dhh1. Thus, in a dcp2Δ mutant, tethered Scd6 reduces GFP protein expression with little effect on mRNA abundance, whereas tethered Scd6 has no impact on GFP protein or mRNA expression in a dcp2Δ dhh1Δ double mutant. The conserved LSm domain, but not the RGG domain, of Scd6 is required for translational repression and mRNA turnover by tethered Scd6. Both functions are enhanced in a ccr4Δ mutant, suggesting that the deadenylase function of Ccr4-Not complex interferes with a more efficient repression pathway enlisted by Scd6. Ribosome profiling and RNA-Seq analysis of scd6Δ and dhh1Δ mutants suggests that Scd6 cooperates with Dhh1 in translational repression and turnover of particular native mRNAs, with both processes dependent on Dcp2. Our results suggest that Scd6 can (i) recruit Dhh1 to confer translational repression and (ii) activate mRNA decapping by Dcp2 with attendant degradation of specific mRNAs in vivo, in a manner dependent on the Scd6 LSm domain and modulated by Ccr4. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
4. A Network Pharmacology Analysis to Explore the Effect of Astragali Radix-Radix Angelica Sinensis on Traumatic Brain Injury.
- Author
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Xie, Genggeng, Peng, Weijun, Li, Pengfei, Xia, Zian, Zhong, Yuanyuan, He, Feng, Tulake, Yimingaji, Feng, Dandan, Wang, Yang, and Xing, Zhihua
- Subjects
ANIMAL experimentation ,BIOCHEMISTRY ,BRAIN ,BRAIN injuries ,CELLULAR signal transduction ,CONVALESCENCE ,GENE expression ,HERBAL medicine ,HIPPOCAMPUS (Brain) ,PHENOMENOLOGY ,CHINESE medicine ,MEMBRANE proteins ,MESSENGER RNA ,NERVE growth factor ,NEURONS ,RATS ,ONTOLOGIES (Information retrieval) - Abstract
Traumatic brain injury (TBI) is a critical public health and socioeconomic problem worldwide. The herb pair Astragali Radix (AR)-Radix Angelica Sinensis (RAS) is a common prescribed herbal formula or is added to other Chinese medicine prescriptions for traumatic brain injury (TBI) treatment. However, the underlying mechanisms are unclear. In this study, we aimed to explore the active ingredients and action targets of AR-RAS based on the combined methods of network pharmacology prediction and experimental verification. Furthermore, the corresponding potential mechanisms of “multicomponents, multitargets, and multipathways” were disclosed. Methods. A network pharmacology approach including ADME (absorption, distribution, metabolism, and excretion) filter analysis, target prediction, known therapeutic targets collection, Gene Ontology (GO), pathway enrichment analysis, and network construction was used in this study. Further verification experiments were performed to reveal the therapeutic effects of AR-RAS in a rat model of TBI. Results. The comprehensive systematic approach was to successfully identify 14 bioactive ingredients in AR-RAS, while 33 potential targets hit by these ingredients related to TBI. Based on GO annotation analysis, multiple biological processes were significantly regulated by AR-RAS. In addition, 89 novel signaling pathways (P<0.05) underlying the effects of AR-RAS for TBI treatment were identified by DAVID. The neurotrophin signaling pathway was suggested as the major related pathway targeted by AR-RAS to improve axonal growth. The animal experiment confirmed that AR-RAS significantly induced tissue recovery and improved neurological deficits on the 14th day (P<0.01). Treatment with AR-RAS markedly reduced the protein and mRNA expression level of NogoA in the hippocampus of TBI rats. Conclusion. Our work illuminates the “multicompounds, multitargets, and multipathways” curative action of AR-RAS in the treatment of TBI by network pharmacology. The animal experiment verifies the effects of AR-RAS on neurological function improvement and axonal outgrowth via downregulation of NogoA expression, providing a theoretical basis for further research on treatment of TBI. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
5. Genome-wide maps of ribosomal occupancy provide insights into adaptive evolution and regulatory roles of uORFs during Drosophila development.
- Author
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Zhang, Hong, Dou, Shengqian, He, Feng, Luo, Junjie, Wei, Liping, and Lu, Jian
- Subjects
DROSOPHILA development ,INSECT genomes ,RIBOSOMAL RNA ,ANIMAL life cycles ,NUCLEOTIDE sequence - Abstract
Upstream open reading frames (uORFs) play important roles in regulating the main coding DNA sequences (CDSs) via translational repression. Despite their prevalence in the genomes, uORFs are overall discriminated against by natural selection. However, it remains unclear why in the genomes there are so many uORFs more conserved than expected under the assumption of neutral evolution. Here, we generated genome-wide maps of translational efficiency (TE) at the codon level throughout the life cycle of Drosophila melanogaster. We identified 35,735 uORFs that were expressed, and 32,224 (90.2%) of them showed evidence of ribosome occupancy during Drosophila development. The ribosome occupancy of uORFs is determined by genomic features, such as optimized sequence contexts around their start codons, a shorter distance to CDSs, and higher coding potentials. Our population genomic analysis suggests the segregating mutations that create or disrupt uORFs are overall deleterious in D. melanogaster. However, we found for the first time that many (68.3% of) newly fixed uORFs that are associated with ribosomes in D. melanogaster are driven by positive Darwinian selection. Our findings also suggest that uORFs play a vital role in controlling the translational program in Drosophila. Moreover, we found that many uORFs are transcribed or translated in a developmental stage-, sex-, or tissue-specific manner, suggesting that selective transcription or translation of uORFs could potentially modulate the TE of the downstream CDSs during Drosophila development. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
6. Growth Differentiation Factor 9 (GDF9) Suppresses Follistatin and Follistatin-Like 3 Production in Human Granulosa-Lutein Cells
- Author
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Anthony Cheung, Feng-Tao Shi, He-Feng Huang, and Peter C.K. Leung
- Subjects
Follistatin ,lcsh:Medicine ,Gene Expression ,Growth Differentiation Factor 9 ,Biochemistry ,Polymerase Chain Reaction ,0302 clinical medicine ,Endocrinology ,Gene expression ,Molecular Cell Biology ,lcsh:Science ,Receptor ,0303 health sciences ,Multidisciplinary ,biology ,Mechanisms of Signal Transduction ,Obstetrics and Gynecology ,Transfection ,Gene Knockdown Techniques ,embryonic structures ,Medicine ,Female ,Signal transduction ,hormones, hormone substitutes, and hormone antagonists ,Research Article ,Signal Transduction ,medicine.medical_specialty ,endocrine system ,animal structures ,Follistatin-Related Proteins ,030209 endocrinology & metabolism ,Growth differentiation factor-9 ,Signaling Pathways ,03 medical and health sciences ,Internal medicine ,medicine ,Extracellular ,Reproductive Endocrinology ,Humans ,Biology ,030304 developmental biology ,DNA Primers ,Messenger RNA ,Analysis of Variance ,Granulosa Cells ,Base Sequence ,lcsh:R ,Lutein ,Molecular Development ,Female Subfertility ,Hormones ,Signaling ,biology.protein ,lcsh:Q ,human activities ,Developmental Biology - Abstract
Background We have demonstrated that growth differentiation factor 9 (GDF9) enhances activin A-induced inhibin βB-subunit mRNA levels in human granulosa-lutein (hGL) cells by regulating receptors and key intracellular components of the activin signaling pathway. However, we could not exclude its effects on follistatin (FST) and follistatin-like 3 (FSTL3), well recognized extracellular inhibitors of activin A. Methodology hGL cells from women undergoing in vitro fertilization (IVF) treatment were cultured with and without siRNA transfection of FST, FSTL3 or GDF9 and then treated with GDF9, activin A, FST, FSTL3 or combinations. FST, FSTL3 and inhibin βB-subunit mRNA, and FST, FSTL3 and inhibin B protein levels were assessed with real-time RT-PCR and ELISA, respectively. Data were log transformed before ANOVA followed by Tukey's test. Principal Findings GDF9 suppressed basal FST and FSTL3 mRNA and protein levels in a time- and dose-dependent manner and inhibited activin A-induced FST and FSTL3 mRNA and protein expression, effects attenuated by BMPR2 extracellular domain (BMPR2 ECD), a GDF9 antagonist. After GDF9 siRNA transfection, basal and activin A-induced FST and FSTL3 mRNA and protein levels increased, but changes were reversed by adding GDF9. Reduced endogenous FST or FSTL3 expression with corresponding siRNA transfection augmented activin A-induced inhibin βB-subunit mRNA levels as well as inhibin B levels (P values all
- Published
- 2011
7. Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing.
- Author
-
Zhang, Jun-Yu, Chen, Song-Chang, Chen, Yi-Yao, Li, Shu-Yuan, Zhang, Lan-Lan, Shen, Ying-Hua, Chang, Chun-Xin, Xiang, Yu-Qian, Huang, He-Feng, and Xu, Chen-Ming
- Subjects
LYMPHOPROLIFERATIVE disorders ,RARE diseases ,GENETIC testing ,B cell lymphoma ,CHINESE people ,NUCLEOTIDE sequence ,GENETIC mutation ,GENETICS ,DISEASES - Abstract
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family. Next-generation sequencing (NGS)-based multigene panel was used in carrier screening of the pregnant woman. Variants of immunodeficiency related genes were analyzed and prioritized. Candidate variant was verified by using Sanger sequencing. The possible influence of the identified variant was evaluated through RNA assay. Amniocentesis, karyotyping, and Sanger sequencing were performed for prenatal testing. We identified a novel de novo frameshift SH2D1A pathogenic variant (c.251_255delTTTCA) in the pregnant carrier. Peripheral blood RNA assay indicated that the mutant transcript could escape nonsense-mediated mRNA decay (NMD) and might encode a C-terminal truncated protein. Information of the variant led to success prenatal diagnosis of the fetus. In conclusion, our study clarified the genetic diagnosis and altered disease prevention for a pregnant carrier of XLP1. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
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