Yao, RuEn: search on Z-Library

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1

Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy

Yao, Ruen, Zhang, Yi, Liu, Jie, Wang, Jiwen, Xu, Yufei, Li, Niu, Wang, Jian, Yu, Tingting

Journal:

Journal of Molecular Neuroscience

Year:

2020

Language:

english

File:

PDF, 4.02 MB

english, 2020

2

Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Li, Niu, Xu, Yufei, Zhang, Yi, Li, Guoqiang, Yu, Tingting, Yao, Ruen, Zhou, YunFang, Shen, Yiping, Yin, Lei, Wang, Xiumin, Wang, Jian

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 2.70 MB

english, 2019

3

Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients

Li, Niu, Wu, Jing, Wu, Yufen, Xu, Yufei, Yao, Ruen, Li, Guoqiang, Zhang, Jie, Zhou, YunFang, Yin, Lei, Yin, Yong, Yu, Tingting, Wang, Jian

Journal:

Clinical Immunology

Year:

2020

Language:

english

File:

PDF, 3.23 MB

english, 2020

4

A rare unbalanced Y:autosome translocation in a Turner syndrome patient

Yao, Ruen, Yu, Ding, Wang, Jian, Wang, Xiumin, Shen, Yiping

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.47 MB

english, 2018

5

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)

Li, Guoqiang, Xu, Yufei, Hu, Xuyun, Li, Niu, Yao, Ruen, Yu, Tingting, Wang, Xiumin, Guo, Weiwei, Wang, Jian

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 2.92 MB

english, 2018

6

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

Li, Xin, Cheng, Qing, Ding, Yu, Li, Qun, Yao, Ruen, Wang, Jian, Wang, Xiumin

Journal:

Year:

2019

File:

PDF, 1.28 MB

2019

7

Accelerated and Severe Lupus Nephritis Benefits From M1, an Active Metabolite of Ginsenoside, by Regulating NLRP3 Inflammasome and T Cell Functions in Mice

Lin, Tsai-Jung, Wu, Chung-Yao, Tsai, Pei-Yi, Hsu, Wan-Han, Hua, Kuo-Feng, Chu, Ching-Liang, Lee, Yu-Chieh, Chen, Ann, Lee, Sheau-Long, Lin, Yi-Jin, Hsieh, Chih-Yu, Yang, Shin-Ruen, Liu, Feng-Cheng, Ka

Journal:

Frontiers in Immunology

Year:

2019

Language:

english

File:

PDF, 5.40 MB

english, 2019

8

Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

Yao, Ruen, Yu, Tingting, Xu, Yufei, Li, Guoqiang, Yin, Lei, Zhou, Yunfang, Wang, Jian, Yan, Zhilong

Journal:

BMC Medical Genomics

Year:

2018

Language:

english

File:

PDF, 722 KB

english, 2018

9

Tris DBA ameliorates IgA nephropathy by blunting the activating signal of NLRP3 inflammasome through SIRT1â and SIRT3âmediated autophagy induction

Wu, ChungâYao, Hua, KuoâFeng, Yang, ShinâRuen, Tsai, YiâShan, Yang, ShunâMin, Hsieh, ChihâYu, Wu, ChiaâChao, Chang, JiaâFeng, Arbiser, Jack L., Chang, ChizâTzung, Chen, Ann, Ka, Shuk

Journal:

Journal of Cellular and Molecular Medicine

Year:

2020

File:

PDF, 2.24 MB

2020

10

Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children

Yao, Ruen, Wang, Lili, Yu, Yongguo, Wang, Jian, Shen, Yiping

Journal:

The Journal of Dermatology

Year:

2016

Language:

english

File:

PDF, 369 KB

english, 2016

11

Xenon blunts NF-ÎºB/NLRP3 inflammasome activation and improves acute onset of accelerated and severe lupus nephritis in mice

Yang, Shin-Ruen, Hua, Kuo-Feng, Chu, Lichieh Julie, Hwu, Yeu-Kuang, Yang, Shun-Min, Wu, Chung-Yao, Lin, Tsai-Jung, Weng, Jui-Chun, Zhao, Hailin, Hsu, Wan-Han, Liu, Feng-Cheng, Liaw, Wen-Jinn, Ma, Daqi

Journal:

Kidney International

Year:

2020

File:

PDF, 4.56 MB

2020

12

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

Yu, Yongguo, Yao, RuEn, Wang, Lili, Fan, Yanjie, Huang, Xiaodong, Hirschhorn, Joel, Dauber, Andrew, Shen, Yiping

Journal:

Year:

2015

Language:

english

File:

PDF, 1.66 MB

english, 2015

13

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

Li, Xin, Cheng, Qing, Ding, Yu, Li, Qun, Yao, Ruen, Wang, Jian, Wang, Xiumin

Journal:

Year:

2019

Language:

english

File:

PDF, 1.28 MB

english, 2019

14

The complete mitochondrial genome of grey plover Pluvialis squatarola (Charadriiformes, charadriidae)

Ding, Jingjing, Qian, Ruen, Tai, Deyun, Yao, Wenjia, Hu, Chaochao, Chang, Qing

Journal:

Mitochondrial DNA Part B

Year:

2020

File:

PDF, 771 KB

2020

15

Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure

Yu, Tingting, Chang, Guoying, Cheng, Qing, Yao, Ruen, Li, Juan, Xu, Yufei, Li, Guoqiang, Ding, Yu, Qing, Yanrong, Li, Niu, Shen, Yiping, Wang, Xiumin, Wang, Jian

Journal:

Molecular and Cellular Endocrinology

Year:

2018

Language:

english

File:

PDF, 4.42 MB

english, 2018

16

Psychomotor development and attention problems caused by a splicing variant of CNKSR2

Zhang, Yi, Yu, Tingting, Li, Niu, Wang, Jiwen, Wang, Jian, Ge, Yihua, Yao, Ruen

Journal:

BMC Medical Genomics

Year:

2020

File:

PDF, 1.23 MB

2020

17

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature

Li, Niu, Chang, Guoying, Xu, Yufei, Ding, Yu, Li, Guoqiang, Yu, Tingting, Yao, Ruen, Li, Juan, Shen, Yiping, Wang, Xiumin, Wang, Jian

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 859 KB

english, 2017

18

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene

Ding, Yu, Li, Niu, Chang, Gouying, Li, Juan, Yao, Ruen, Shen, Yiping, Wang, Jian, Huang, Xiaodong, Wang, Xiumin

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.20 MB

english, 2018

19

TRPS1 mutation detection in Chinese patients with Trichoârhinoâphalangeal syndrome and identification of four novel mutations

Wang, Chen, Xu, Yufei, Qing, Yanrong, Yao, Ruen, Li, Niu, Wang, Xiumin, Yu, Tingting, Wang, Jian

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 1.17 MB

2020

20

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development

Fan, Yanjie, Zhang, Xia, Wang, Lili, Wang, Ruifang, Huang, Zhuo, Sun, Yu, Yao, Ruen, Huang, Xiaodong, Ye, Jun, Han, Lianshu, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Gu, Xuefan, Yu, Yongguo

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 420 KB

english, 2017

21

Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1

Li, Niu, Xu, Yufei, Yu, Tingting, Yao, Ruen, Chen, Jing, Luo, Chengjuan, Wang, Jian

Journal:

Year:

2020

File:

PDF, 493 KB

2020

22

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Yao, Ruen, Zhang, Cheng, Yu, Tingting, Li, Niu, Hu, Xuyun, Wang, Xiumin, Wang, Jian, Shen, Yiping

Journal:

Molecular Cytogenetics

Year:

2017

Language:

english

File:

PDF, 1.02 MB

english, 2017

23

[ACM Press ACM SIGGRAPH 2013 Posters - Anaheim, California (2013.07.21-2013.07.25)] ACM SIGGRAPH 2013 Posters on - SIGGRAPH '13 - Emerging images synthesis from photographs

Jian, Mao-Fong, Chu, Hung-Kuo, Lee, Ruen-Rone, Ku, Chia-Lun, Wang, Yu-Shuen, Yao, Chih-Yuan

Year:

2013

Language:

english

File:

PDF, 1.89 MB

english, 2013

24

Cutis laxa in a patient with 1p36 deletion syndrome

Zhang, Zhen, Wang, Jian, li, Niu, Yao, Ruen, Chen, Ji

Journal:

The Journal of Dermatology

Year:

2018

Language:

english

File:

PDF, 358 KB

english, 2018

25

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children

Yao, Ruen, Yu, Tingting, Xu, Yufei, Yu, Li, Wang, Jiwen, Wang, Xiumin, Wang, Jian, Shen, Yiping

Journal:

Year:

2019

Language:

english

File:

PDF, 694 KB

english, 2019

26

Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children

Yao, Ruen, Yu, Tingting, Xu, Yufei, Yu, Li, Wang, Jiwen, Wang, Xiumin, Wang, Jian, Shen, Yiping

Journal:

Year:

2019

File:

PDF, 694 KB

2019

27

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

Jiang, Yanrui, Sun, Huizhen, Lin, Qingmin, Wang, Zengge, Wang, Guanghai, Wang, Jian, Jiang, Fan, Yao, Ruen

Journal:

BMC Medical Genetics

Year:

2019

Language:

english

File:

PDF, 594 KB

english, 2019

28

Tris DBA Ameliorates Accelerated and Severe Lupus Nephritis in Mice by Activating Regulatory T Cells and Autophagy and Inhibiting the NLRP3 Inflammasome

Wu, Chung-Yao, Hua, Kuo-Feng, Chu, Ching-Liang, Yang, Shin-Ruen, Arbiser, Jack L., Yang, Sung-Sen, Lin, Yu-Chuan, Liu, Feng-Cheng, Yang, Shun-Min, Ka, Shuk-Man, Chen, Ann

Journal:

The Journal of Immunology

Year:

2020

File:

PDF, 4.27 MB

2020

29

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay

Schilit, Samantha LP, Currall, Benjamin B, Yao, Ruen, Hanscom, Carrie, Collins, Ryan L, Pillalamarri, Vamsee, Lee, Dong-Young, Kammin, Tammy, Zepeda-Mendoza, Cinthya J, Mononen, Tarja, Nolan, Lisa S,

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

30

Superparamagnetic iron oxide labeling of spinal cord neural stem cells genetically modified by nerve growth factor-β

Deqiang Lei, Hongyang Zhao, Xingli Deng, Ruen Liu, Fangcheng Zhang, Dongxiao Yao

Journal:

Journal of Huazhong University of Science and Technology -- Medical Sciences --

Year:

2009

Language:

english

File:

PDF, 487 KB

english, 2009

31

Accelerated, severe lupus nephritis benefits from treatment with honokiol by immunoregulation and differentially regulating NFâÎºB/NLRP3 inflammasome and sirtuin 1/autophagy axis

Yang, ShinâRuen, Hsu, WanâHan, Wu, ChungâYao, Shang, HungâSheng, Liu, FengâCheng, Chen, Ann, Hua, KuoâFeng, Ka, ShukâMan

Journal:

The FASEB Journal

Year:

2020

File:

PDF, 2.09 MB

2020

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