Publications:

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: NPHS1: E447K; rs28939695

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 3
• can-22-2224_table_s8_suppst8.xlsx, sheet 13

View BVdb publication page

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The efficacy of coenzyme Q10 treatment in alleviating the symptoms of primary coenzyme Q10 deficiency: A systematic review.

Journal Of Cellular And Molecular Medicine

Wang, Ying Y; Hekimi, Siegfried S

Publication Date: 2022-09

Variant appearance in text: NPHS1: E447K

PubMed Link: 35985679

Variant Present in the following documents:

• JCMM-26-4635-s001.pdf

View BVdb publication page

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Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.

Frontiers In Immunology

Papadatou, Ioanna I; Marinakis, Nikolaos N; Botsa, Evanthia E; Tzanoudaki, Marianna M; Kanariou, Maria M; Orfanou, Irene I; Kanaka-Gantenbein, Christina C; Traeger-Synodinos, Joanne J; Spoulou, Vana V

Publication Date: 2021

Variant appearance in text: NPHS1: 1339G>A; E447K; rs28939695

PubMed Link: 33679784

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases

Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY

Publication Date: 2020-12

Variant appearance in text: NPHS1: E447K; rs28939695

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.xlsx, sheet 1

View BVdb publication page

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Case Report: CMV-Associated Congenital Nephrotic Syndrome.

Frontiers In Pediatrics

Jacob, Anju A; Habeeb, Shameer M SM; Herlitz, Leal L; Simkova, Eva E; Shekhy, Jwan F JF; Taylor, Alan A; Abuhammour, Walid W; Abou Tayoun, Ahmad A; Bitzan, Martin M

Publication Date: 2020

Variant appearance in text: NPHS1: 1339G>A

PubMed Link: 33330277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.

Kidney International Reports

Schijvens, Anne M AM; van de Kar, Nicole C NC; Bootsma-Robroeks, Charlotte M CM; Cornelissen, Elisabeth A EA; van den Heuvel, Lambertus P LP; Schreuder, Michiel F MF

Publication Date: 2020-12

Variant appearance in text: NPHS1: Glu447Lys

PubMed Link: 33305107

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: NPHS1: E447K; rs28939695

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: NPHS1: E447K

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Analysis of 14 Patients With Congenital Nephrotic Syndrome.

Frontiers In Pediatrics

Chen, Yan Y; Zhang, Yanqin Y; Wang, Fang F; Zhang, Hongwen H; Zhong, Xuhui X; Xiao, Huijie H; Yao, Yong Y; Jiang, Yi Y; Ding, Jie J; Hou, Xinlin X

Publication Date: 2019

Variant appearance in text: NPHS1: 1339G>A

PubMed Link: 31456999

Variant Present in the following documents:

• Main text
• fped-07-00341.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: NPHS1: E447K

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 9
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 49

View BVdb publication page

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A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.

Bmc Medical Genetics

Zhuo, Ling L; Huang, Lulin L; Yang, Zhenglin Z; Li, Guisen G; Wang, Li L

Publication Date: 2019-06-19

Variant appearance in text: NPHS1: E447K; rs28939695

PubMed Link: 31216994

Variant Present in the following documents:

• Main text
• 12881_2019_Article_845.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: NPHS1: E447K; rs28939695

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Scientific Reports

Tong, Wenjia W; Wang, Yajian Y; Lu, Yun Y; Ye, Tongsheng T; Song, Conglei C; Xu, Yuanyuan Y; Li, Min M; Ding, Jie J; Duan, Yuanyuan Y; Zhang, Le L; Gu, Weiyue W; Zhao, Xiaoling X; Yang, Xiu-An XA; Jin, Danqun D

Publication Date: 2018-03-26

Variant appearance in text: NPHS1: 1339G>A; E447K; rs28939695

PubMed Link: 29581464

Variant Present in the following documents:

• 41598_2018_23503_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.

Medicine

Feng, Chunyue C; Wang, Qiong Q; Wang, Jingjing J; Liu, Fei F; Shen, Huijun H; Fu, Haidong H; Mao, Jianhua J

Publication Date: 2017-11

Variant appearance in text: NPHS1: E447K; rs28939695

PubMed Link: 29382012

Variant Present in the following documents:

• Main text
• medi-96-e8880.pdf

View BVdb publication page

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Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.

Intractable & Rare Diseases Research

Zhang, Hongwen H; Wang, Fang F; Liu, Xiaoyu X; Zhong, Xuhui X; Yao, Yong Y; Xiao, Huijie H

Publication Date: 2017-11

Variant appearance in text: NPHS1: 1339G>A; E447K; rs28939695

PubMed Link: 29259860

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.

Molecular Medicine Reports

Li, Yongzhen Y; Wang, Ying Y; He, Qingnan Q; Dang, Xiqiang X; Cao, Yan Y; Wu, Xiaochuan X; Mo, Shuanghong S; He, Xiaoxie X; Yi, Zhuwen Z

Publication Date: 2018-01

Variant appearance in text: rs28939695

PubMed Link: 29138824

Variant Present in the following documents:

• Main text
• mmr-17-01-1513.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: NPHS1: 1339G>A; Glu447Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: NPHS1: E447K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

Plos Genetics

de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Gilissen, Christian C; van Zelst-Stams, Wendy A WA; Spruijt, Liesbeth L; Kets, C Marleen CM; Zhang, Junxiao J; Venselaar, Hanka H; Vreede, Lilian L; Schubert, Nil N; Tychon, Marloes M; Derks, Ronny R; Schackert, Hans K HK; Geurts van Kessel, Ad A; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ; Kuiper, Roland P RP

Publication Date: 2016-02

Variant appearance in text: NPHS1: E447K; rs28939695

PubMed Link: 26901136

Variant Present in the following documents:

• pgen.1005880.s003.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28939695

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NPHS1: E447K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: NPHS1: E447K; rs28939695

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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