Chen WQ - Search Results

1

NTRK1 knockdown induces mouse cognitive impairment and hippocampal neuronal damage through mitophagy suppression via inactivating the AMPK/ULK1/FUNDC1 pathway.

Yang K, Wu J, Li S, Wang S, Zhang J, Wang YP, Yan YS, Hu HY, Xiong MF, Bai CB, Sun YQ, Chen WQ, Zeng Y, Yuan JL, Yin CH. Yang K, et al. Among authors: chen wq. Cell Death Discov. 2023 Oct 31;9(1):404. doi: 10.1038/s41420-023-01685-7. Cell Death Discov. 2023. PMID: 37907480 Free PMC article.

2

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

Zhang J, Chen WQ, Wang SW, Wang SX, Yu M, Guo Q, Yu YD. Zhang J, et al. Among authors: chen wq. Mol Genet Genomic Med. 2020 Oct;8(10):e1440. doi: 10.1002/mgg3.1440. Epub 2020 Aug 7. Mol Genet Genomic Med. 2020. PMID: 32767732 Free PMC article.

3

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2.

Zhang J, Hu H, Mu W, Yu M, Chen W, Mi D, Yang K, Guo Q. Zhang J, et al. Front Genet. 2021 Feb 16;12:619948. doi: 10.3389/fgene.2021.619948. eCollection 2021. Front Genet. 2021. PMID: 33664768 Free PMC article.

4

Metabolic and biophysical study of the MFN2^Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN).

Yang K, Hu HY, Zhang J, Yan YS, Chen WQ, Liu Y, Sun YQ, Guo Q, Yin CH. Yang K, et al. Among authors: chen wq. Am J Transl Res. 2021 Oct 15;13(10):11501-11512. eCollection 2021. Am J Transl Res. 2021. PMID: 34786076 Free PMC article.

5

Genome sequencing identified a novel exonic microdeletion in the RUNX2 gene that causes cleidocranial dysplasia.

Zhang J, Li YZ, Chen WQ, Yuan JY, Li Q, Meng YX, Yu YD, Guo Q. Zhang J, et al. Among authors: chen wq. Clin Chim Acta. 2022 Mar 1;528:6-12. doi: 10.1016/j.cca.2022.01.010. Epub 2022 Jan 19. Clin Chim Acta. 2022. PMID: 35065050 Free article.

6

Whole exome sequencing facilitated the diagnosis in four Chinese pediatric cases of Joubert syndrome related disorders.

Zhang J, Wang L, Chen W, Duan J, Meng Y, Yang H, Guo Q. Zhang J, et al. Am J Transl Res. 2022 Jul 15;14(7):5088-5097. eCollection 2022. Am J Transl Res. 2022. PMID: 35958498 Free PMC article.

7

Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.

Yang K, Liu Y, Wu J, Zhang J, Hu HY, Yan YS, Chen WQ, Yang SF, Sun LJ, Sun YQ, Wu QQ, Yin CH. Yang K, et al. Among authors: chen wq. Genes (Basel). 2022 Sep 2;13(9):1578. doi: 10.3390/genes13091578. Genes (Basel). 2022. PMID: 36140746 Free PMC article.

8

Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).

Ren Z, Yuan JY, Zhang J, Tan Y, Chen WQ, Zhang ZT, Li YZ. Ren Z, et al. Among authors: chen wq. Am J Transl Res. 2022 Sep 15;14(9):6303-6312. eCollection 2022. Am J Transl Res. 2022. PMID: 36247276 Free PMC article.

9

Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).

Chen W, Li Y, Zhang J, Yuan Y, Sun D, Yuan J, Yang K, Liang Y, Guo Q. Chen W, et al. Front Genet. 2023 Apr 6;14:1125473. doi: 10.3389/fgene.2023.1125473. eCollection 2023. Front Genet. 2023. PMID: 37091781 Free PMC article.

10

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.

Yang K, Fu LM, Chu XY, Zhang J, Chen WQ, Yan YS, Wang YP, Zhang DL, Yin CH, Guo Q. Yang K, et al. Among authors: chen wq. Mol Genet Genomic Med. 2023 Jul;11(7):e2186. doi: 10.1002/mgg3.2186. Epub 2023 Apr 30. Mol Genet Genomic Med. 2023. PMID: 37120754 Free PMC article.

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