Works matching AU Chen, Chunnuan
Results: 33
Omega-3 polyunsaturated fatty acid supplementation attenuates microglial-induced inflammation by inhibiting the HMGB1/TLR4/NF-κB pathway following experimental traumatic brain injury.
- Published in:
- 2017
- By:
- Publication type:
- journal article
First clinical and pedigree study of rare HBB: c.316–90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.
- Published in:
- Annals of Hematology, 2025, v. 104, n. 1, p. 75, doi. 10.1007/s00277-024-06168-y
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- Publication type:
- Article
Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 8, p. 1, doi. 10.1002/bdr2.2396
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- Publication type:
- Article
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2023, v. 147, n. 2, p. 208, doi. 10.5858/arpa.2021-0510-OA
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- Publication type:
- Article
Omega-3 polyunsaturated fatty acid attenuates the inflammatory response by modulating microglia polarization through SIRT1-mediated deacetylation of the HMGB1/NF-κB pathway following experimental traumatic brain injury.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2429
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- Publication type:
- Article
Third‐generation sequencing identified two rare α‐chain variants leading to hemoglobin variants in Chinese population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2365
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- Publication type:
- Article
Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2121
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- Publication type:
- Article
Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-52831-9
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- Publication type:
- Article
Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
- Published in:
- Frontiers in Pediatrics, 2025, p. 1, doi. 10.3389/fped.2024.1503455
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- Publication type:
- Article
Genetic Variants in GAPDH Confer Susceptibility to Sporadic Parkinson’s Disease in a Chinese Han Population.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135425
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- Publication type:
- Article
Mitochondrial complex I inhibitor rotenone-induced toxicity and its potential mechanisms in Parkinson's disease models.
- Published in:
- Critical Reviews in Toxicology, 2012, v. 42, n. 7, p. 613, doi. 10.3109/10408444.2012.680431
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- Publication type:
- Article
Fenpropathrin, a Widely Used Pesticide, Causes Dopaminergic Degeneration.
- Published in:
- Molecular Neurobiology, 2016, v. 53, n. 2, p. 995, doi. 10.1007/s12035-014-9057-2
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- Publication type:
- Article
VisANT 3.0: new modules for pathway visualization, editing, prediction and construction.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. suppl_2, p. W625, doi. 10.1093/nar/gkm295
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- Publication type:
- Article
Allele quantification using molecular inversion probes (MIP).
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 21, p. e183, doi. 10.1093/nar/gni177
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- Publication type:
- Article
Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00608-y
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- Publication type:
- Article
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00599-w
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- Publication type:
- Article
Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.964098
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- Publication type:
- Article
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.924573
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- Publication type:
- Article
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829613
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- Publication type:
- Article
Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China.
- Published in:
- Behavioral & Brain Functions, 2012, v. 8, n. 1, p. 57, doi. 10.1186/1744-9081-8-57
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- Publication type:
- Article
Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.
- Published in:
- BMC Pregnancy & Childbirth, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12884-021-03589-9
- By:
- Publication type:
- Article
Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway.
- Published in:
- BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11297-3
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- Publication type:
- Article
A study of familial MELAS: Evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression.
- Published in:
- Neurology India, 2012, v. 60, n. 1, p. 86, doi. 10.4103/0028-3886.93609
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- Publication type:
- Article
Identification of HIVEP2 as a dopaminergic transcription factor related to substance use disorders in rats and humans.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41398-019-0573-8
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- Publication type:
- Article
Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study.
- Published in:
- BMC Pregnancy & Childbirth, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12884-024-06818-z
- By:
- Publication type:
- Article
Edaravone Guards Dopamine Neurons in a Rotenone Model for Parkinson's Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020677
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- Publication type:
- Article
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01433-x
- By:
- Publication type:
- Article
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
- Published in:
- 2023
- By:
- Publication type:
- Case Study