Chen Y - Search Results

1

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.

Chen Y, Fang B, Hu X, Guo R, Guo J, Fang K, Ni J, Li W, Qian S, Hao C. Chen Y, et al. Orphanet J Rare Dis. 2021 Sep 29;16(1):403. doi: 10.1186/s13023-021-02028-4. Orphanet J Rare Dis. 2021. PMID: 34587972 Free PMC article.

2

Sorting machineries: how platelet-dense granules differ from α-granules.

Chen Y, Yuan Y, Li W. Chen Y, et al. Biosci Rep. 2018 Sep 7;38(5):BSR20180458. doi: 10.1042/BSR20180458. Print 2018 Oct 31. Biosci Rep. 2018. PMID: 30104399 Free PMC article. Review.

3

Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non-compaction cardiomyopathy.

Sun Q, Guo J, Hao C, Guo R, Hu X, Chen Y, Yang W, Li W, Feng Y. Sun Q, et al. Among authors: chen y. Pediatr Investig. 2020 Mar 17;4(1):11-16. doi: 10.1002/ped4.12183. eCollection 2020 Mar. Pediatr Investig. 2020. PMID: 32851336 Free PMC article.

4

Whole exome sequencing for non-selective pediatric patients with hyperlipidemia.

Hu X, Chen L, Gong C, Guo J, Chen Y, Wang Q, Guo R, Li W, Hao C. Hu X, et al. Among authors: chen l, chen y. Gene. 2021 Feb 5;768:145310. doi: 10.1016/j.gene.2020.145310. Epub 2020 Nov 18. Gene. 2021. PMID: 33217533

5

Mycobacterium tuberculosis infection up-regulates MFN2 expression to promote NLRP3 inflammasome formation.

Xu F, Qi H, Li J, Sun L, Gong J, Chen Y, Shen A, Li W. Xu F, et al. Among authors: chen y. J Biol Chem. 2020 Dec 18;295(51):17684-17697. doi: 10.1074/jbc.RA120.014077. J Biol Chem. 2020. PMID: 33454007 Free PMC article.

6

A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules.

Yuan Y, Liu T, Huang X, Chen Y, Zhang W, Li T, Yang L, Chen Q, Wang Y, Wei A, Li W. Yuan Y, et al. Among authors: chen q, chen y. Blood. 2021 Apr 1;137(13):1804-1817. doi: 10.1182/blood.2020007389. Blood. 2021. PMID: 33513603 Free PMC article.

7

[Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy].

Jia L, Chen Y, Hao C, Guo R, Liu Y, Li W, Guo J, Feng Y. Jia L, et al. Among authors: chen y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Aug 10;38(8):731-734. doi: 10.3760/cma.j.cn511374-20200602-00406. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34365612 Chinese.

8

New insights into the pathogenesis of Hermansky-Pudlak syndrome.

Li W, Hao CJ, Hao ZH, Ma J, Wang QC, Yuan YF, Gong JJ, Chen YY, Yu JY, Wei AH. Li W, et al. Pigment Cell Melanoma Res. 2022 May;35(3):290-302. doi: 10.1111/pcmr.13030. Epub 2022 Feb 13. Pigment Cell Melanoma Res. 2022. PMID: 35129281 Review.

9

Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.

Chen Y, Sun Q, Hao C, Guo R, Wang C, Yang W, Zhang Y, Wang F, Li W, Guo J. Chen Y, et al. Front Med (Lausanne). 2022 Aug 30;9:944950. doi: 10.3389/fmed.2022.944950. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36111109 Free PMC article.

10

A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P₂ and causes lysosome acidification and hypopigmentation.

Wang Q, Wang Z, Wang Y, Qi Z, Bai D, Wang C, Chen Y, Xu W, Zhu X, Jeon J, Xiong J, Hao C, Zhu MX, Wei A, Li W. Wang Q, et al. Among authors: chen y. Nat Commun. 2023 Jan 14;14(1):226. doi: 10.1038/s41467-023-35786-9. Nat Commun. 2023. PMID: 36641477 Free PMC article.

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