Yuanying Chen
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Explore the profile of Yuanying Chen including associated specialties, affiliations and a list of published articles.
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15
Citations
220
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0
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Recent Articles
1.
Sun Q, Guo J, Zhang Y, Zheng R, He K, Chen Y, et al.
BMJ Paediatr Open
. 2024 Jun;
8(1).
PMID: 38823802
Objectives: This study aimed to describe the genetic and clinical characteristics of paediatric cardiomyopathy in a cohort of Chinese patients. Methods: We retrospectively reviewed the clinical history and mutation spectrum...
2.
Guo R, Chen Y, Hu X, Qi Z, Guo J, Li Y, et al.
BMC Med Genomics
. 2023 Oct;
16(1):245.
PMID: 37833669
Background: Aminoacyl-tRNA synthetases (ARSs) are indispensable enzymes for protein biosynthesis in cells. The phenylalanyl-tRNA synthetase (FARS1) located in cytoplasm which consists of two FARS alpha subunits (FARSA) and two FARS...
3.
Wang Q, Wang Z, Wang Y, Qi Z, Bai D, Wang C, et al.
Nat Commun
. 2023 Jan;
14(1):226.
PMID: 36641477
Albinism is a group of inherited disorders mainly affecting skin, hair and eyes. Here we identify a de novo point mutation, p.R210C, in the TPCN2 gene which encodes Two Pore...
4.
Chen Y, Sun Q, Hao C, Guo R, Wang C, Yang W, et al.
Front Med (Lausanne)
. 2022 Sep;
9:944950.
PMID: 36111109
Background: Dilated cardiomyopathy (DCM), which is a major cause of heart failure, is a primary cardiac muscle disease with high morbidity and mortality rates. DCM is a genetically heritable disease...
5.
Chen Y, Fang B, Hu X, Guo R, Guo J, Fang K, et al.
Orphanet J Rare Dis
. 2021 Sep;
16(1):403.
PMID: 34587972
Background: Thiamine metabolism dysfunction syndrome 4 (THMD4, OMIM #613710) is an autosomal recessive inherited disease caused by the deficiency of SLC25A19 that encodes the mitochondrial thiamine pyrophosphate (TPP) transporter. This...
6.
Jia L, Chen Y, Hao C, Guo R, Liu Y, Li W, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
. 2021 Aug;
38(8):731-734.
PMID: 34365612
Objective: To identify the pathogenesis in two patients of restrictive cardiomyopathy (RCM) using high-throughput sequencing. Methods: Peripheral blood samples from the two patients and their parents were collected and genomic...
7.
Yuan Y, Liu T, Huang X, Chen Y, Zhang W, Li T, et al.
Blood
. 2021 Jan;
137(13):1804-1817.
PMID: 33513603
Lysosome-related organelles (LROs) are a category of secretory organelles enriched with ions such as calcium, which are maintained by ion transporters or channels. Homeostasis of these ions is important for...
8.
Xu F, Qi H, Li J, Sun L, Gong J, Chen Y, et al.
J Biol Chem
. 2021 Jan;
295(51):17684-17697.
PMID: 33454007
Tuberculosis (TB), caused by the infection of Mycobacterium tuberculosis (MTB), is one of the leading causes of death worldwide, especially in children. However, the mechanisms by which MTB infects its...
9.
Hu X, Chen L, Gong C, Guo J, Chen Y, Wang Q, et al.
Gene
. 2020 Nov;
768:145310.
PMID: 33217533
Background: Hyperlipidemia is a group of conditions with abnormally elevated levels of any or all lipids or lipoproteins in the blood. It is highly heterogeneous both genetically and clinically, which...
10.
Sun Q, Guo J, Hao C, Guo R, Hu X, Chen Y, et al.
Pediatr Investig
. 2020 Aug;
4(1):11-16.
PMID: 32851336
Importance: Pathogenic variants in the gene are associated with aggressive dilated cardiomyopathy (DCM). Recently, was found to be associated with left ventricular non-compaction cardiomyopathy (LVNC). Thus far, only five families...