Works matching IS 14739542 AND DT 2020 AND VI 14 AND IP 1

Results: 45

The haplotypes of various TNF related genes associated with scleritis in Chinese Han.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00296-y

By:

Gao, Yingnan;
Du, Liping;
Li, Fuzhen;
Ding, Jiadong;
Li, Geng;
Cao, Qingfeng;
Li, Na;
Su, Guannan;
Kijlstra, Aize;
Yang, Peizeng

Publication type:

Article

Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00294-0

By:

Zhang, Linlin;
Gao, Jinshuang;
Liu, Hailiang;
Tian, Yuan;
Zhang, Xiaoli;
Lei, Wei;
Li, Ying;
Guo, Yaqing;
Yu, Haiyang;
Yuan, Erfeng;
Liang, Lisi;
Cui, Shihong;
Zhang, Xiaoan

Publication type:

Article

COVID-19 update: the first 6 months of the pandemic.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00298-w

By:

Novelli, Giuseppe;
Biancolella, Michela;
Mehrian-Shai, Ruty;
Erickson, Caroline;
Godri Pollitt, Krystal J.;
Vasiliou, Vasilis;
Watt, Jessica;
Reichardt, Juergen K. V.

Publication type:

Article

A rational approach to COVID-19.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00300-5

By:

Mehrian-Shai, Ruty

Publication type:

Article

KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00295-z

By:

Ying, Yuyi;
Lu, Lu;
Banerjee, Santasree;
Xu, Lizhen;
Zhao, Qiang;
Wu, Hao;
Li, Ruiqi;
Xu, Xiao;
Yu, Hua;
Neculai, Dante;
Xi, Yongmei;
Yang, Fan;
Qin, Jiale;
Li, Chen

Publication type:

Article

Microarray analysis identification of key pathways and interaction network of differential gene expressions during osteogenic differentiation.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00293-1

By:

Khodabandehloo, Fatemeh;
Taleahmad, Sara;
Aflatoonian, Reza;
Rajaei, Farzad;
Zandieh, Zahra;
Nassiri-Asl, Marjan;
Eslaminejad, Mohamadreza Baghaban

Publication type:

Article

Correction to: The social, economic, political, and genetic value of race and ethnicity in 2020.

Published in:

2020

By:

Mersha, Tesfaye B.;
Beck, Andrew F.

Publication type:

Correction Notice

Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00291-3

By:

Krupenko, Natalia I.;
Sharma, Jaspreet;
Pediaditakis, Peter;
Helke, Kristi L.;
Hall, Madeline S.;
Du, Xiuxia;
Sumner, Susan;
Krupenko, Sergey A.

Publication type:

Article

Human genetic factors associated with susceptibility to SARS-CoV-2 infection and COVID-19 disease severity.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00290-4

By:

Anastassopoulou, Cleo;
Gkizarioti, Zoi;
Patrinos, George P.;
Tsakris, Athanasios

Publication type:

Article

Mild dyserythropoiesis and β-like globin gene expression imbalance due to the loss of histone chaperone ASF1B.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00283-3

By:

Papadopoulos, Petros;
Kafasi, Athanassia;
De Cuyper, Iris M.;
Barroca, Vilma;
Lewandowski, Daniel;
Kadri, Zahra;
Veldthuis, Martijn;
Berghuis, Jeffrey;
Gillemans, Nynke;
Cuesta, Celina María Benavente;
Grosveld, Frank G.;
van Zwieten, Rob;
Philipsen, Sjaak;
Vernet, Muriel;
Gutiérrez, Laura;
Patrinos, George P.

Publication type:

Article

A miR-182 variant and risk of hepatocellular carcinoma in a southern Chinese population.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00289-x

By:

Qiu, Moqin;
Liu, Yingchun;
Lin, Qiuling;
Zhou, Zihan;
Jiang, Yanji;
Huo, Rongrui;
Liang, Xiumei;
Yu, Xiangyuan;
Cao, Ji;
Zhou, Xianguo;
Yu, Hongping

Publication type:

Article

The social, economic, political, and genetic value of race and ethnicity in 2020.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00284-2

By:

Mersha, Tesfaye B.;
Beck, Andrew F.

Publication type:

Article

Evaluation of a genetic risk score for severity of COVID-19 using human chromosomal-scale length variation.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00288-y

By:

Toh, Christopher;
Brody, James P.

Publication type:

Article

Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00280-6

By:

Di Maria, Emilio;
Latini, Andrea;
Borgiani, Paola;
Novelli, Giuseppe

Publication type:

Article

Aberration of the modulatory functions of intronic microRNA hsa-miR-933 on its host gene ATF2 results in type II diabetes mellitus and neurodegenerative disease development.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00285-1

By:

Islam, Abul Bashar Mir Md. Khademul;
Mohammad, Eusra;
Khan, Md. Abdullah-Al-Kamran

Publication type:

Article

Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00286-0

By:

Hou, Bo;
Jia, Xuewen;
Deng, Ziwen;
Liu, Xin;
Liu, Huitang;
Yu, Haichu;
Liu, Shiguo

Publication type:

Article

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00281-5

By:

Sapey-Triomphe, Laurie-Anne;
Reversat, Julie;
Lesca, Gaëtan;
Chatron, Nicolas;
Bussa, Marina;
Mazoyer, Sylvie;
Schmitz, Christina;
Sonié, Sandrine;
Edery, Patrick

Publication type:

Article

Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00282-4

By:

Sugino, Shigekazu;
Konno, Daisuke;
Kawai, Yosuke;
Nagasaki, Masao;
Endo, Yasuhiro;
Hayase, Tomo;
Yamazaki-Higuchi, Misako;
Kumeta, Yukihiro;
Tachibana, Shunsuke;
Saito, Katsuhiko;
Suzuki, Jun;
Kido, Kanta;
Kurosawa, Nahoko;
Namiki, Akiyoshi;
Yamauchi, Masanori

Publication type:

Article

Practicing precision medicine with intelligently integrative clinical and multi-omics data analysis.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00287-z

By:

Ahmed, Zeeshan

Publication type:

Article

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00279-z

By:

Novelli, Antonio;
Biancolella, Michela;
Borgiani, Paola;
Cocciadiferro, Dario;
Colona, Vito Luigi;
D'Apice, Maria Rosaria;
Rogliani, Paola;
Zaffina, Salvatore;
Leonardis, Francesca;
Campana, Andrea;
Raponi, Massimiliano;
Andreoni, Massimo;
Grelli, Sandro;
Novelli, Giuseppe

Publication type:

Article

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00278-0

By:

Tsang, Mandy H.Y.;
Kwong, Anna K.Y.;
Chan, Kate L.S.;
Fung, Jasmine L.F.;
Yu, Mullin H.C.;
Mak, Christopher C.Y.;
Yeung, Kit-San;
Rodenburg, Richard J.T.;
Smeitink, Jan A.M.;
Chan, Rachel;
Tsoi, Thomas;
Hui, Joannie;
Wong, Shelia S.N;
Tai, Shuk-Mui;
Chan, Victor C.M.;
Ma, Che-Kwan;
Fung, Sharon T.H.;
Wu, Shun-Ping;
Chak, W.K.;
Chung, Brian H.Y.

Publication type:

Article

Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00275-3

By:

Forrest, Alistair R. R.;
Repetto, Gabriela M.;
Reichardt, Juergen K. V.

Publication type:

Article

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00274-4

By:

Wang, Xiang;
Zhang, Zhu;
Zhang, Xueguang;
Shen, Ying;
Liu, Hongqian

Publication type:

Article

Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00276-2

By:

De Masi, Claudia;
Spitalieri, Paola;
Murdocca, Michela;
Novelli, Giuseppe;
Sangiuolo, Federica

Publication type:

Article

Genomics of COVID-19: molecular mechanisms going from susceptibility to severity of the disease.

Published in:

2020

By:

Mehrian-Shai, Ruty;
Novelli, Giuseppe;
Vasiliou, Vasilis;
Watt, Jessica;
Reichardt, Juergen K. V.

Publication type:

Editorial

Whole-genome sequencing of Chinese centenarians reveals important genetic variants in aging WGS of centenarian for genetic analysis of aging.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00271-7

By:

Shen, Shuhua;
Li, Chao;
Xiao, Luwei;
Wang, Xiaoming;
Lv, Hang;
Shi, Yuan;
Li, Yixue;
Huang, Qi

Publication type:

Article

A potential prognostic prediction model of colon adenocarcinoma with recurrence based on prognostic lncRNA signatures.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00270-8

By:

Jin, Lipeng;
Li, Chenyao;
Liu, Tao;
Wang, Lei

Publication type:

Article

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00268-2

By:

Liu, Yanhui;
Liu, Hailiang;
He, Yi;
Xu, Wanfang;
Ma, Qiulin;
He, Yuzhen;
Lei, Wei;
Chen, Guoquan;
He, Zheng;
Huang, Jiayi;
Liu, Jianan;
Liu, Yuanru;
Huang, Quanfei;
Yu, Fubing

Publication type:

Article

COVID-19 preclinical models: human angiotensin-converting enzyme 2 transgenic mice.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00272-6

By:

Lutz, Cathleen;
Maher, Leigh;
Lee, Charles;
Kang, Wonyoung

Publication type:

Article

Gene X environment: the cellular environment governs the transcriptional response to environmental chemicals.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00269-1

By:

Burman, Andreanna;
Garcia-Milian, Rolando;
Whirledge, Shannon

Publication type:

Article

COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00267-3

By:

Godri Pollitt, Krystal J.;
Peccia, Jordan;
Ko, Albert I.;
Kaminski, Naftali;
Dela Cruz, Charles S.;
Nebert, Daniel W.;
Reichardt, Juergen K.V.;
Thompson, David C.;
Vasiliou, Vasilis

Publication type:

Article

An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00264-6

By:

Okolicsanyi, Rachel K.;
Bluhm, Julia;
Miller, Cassandra;
Griffiths, Lyn R.;
Haupt, Larisa M.

Publication type:

Article

Identification of rare and common variants in BNIP3L: a schizophrenia susceptibility gene.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00266-4

By:

Zhou, Juan;
Ma, Chuanchuan;
Wang, Ke;
Li, Xiuli;
Jian, Xuemin;
Zhang, Han;
Yuan, Jianmin;
Yin, Jiajun;
Chen, Jianhua;
Shi, Yongyong

Publication type:

Article

Hydroxymethylation and tumors: can 5-hydroxymethylation be used as a marker for tumor diagnosis and treatment?

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00265-5

By:

Xu, Tianmin;
Gao, Haoyue

Publication type:

Article

A novel method to predict essential proteins based on tensor and HITS algorithm.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00263-7

By:

Zhang, Zhihong;
Luo, Yingchun;
Hu, Sai;
Li, Xueyong;
Wang, Lei;
Zhao, Bihai

Publication type:

Article

Reply to "Is the number of DNA repair genes associated with evolution rate and size of genomes?".

Published in:

2020

By:

Voskarides, Konstantinos

Publication type:

Letter

Is the number of DNA repair genes associated with evolution rate and size of genomes?

Published in:

2020

By:

Udroiu, Ion

Publication type:

Letter

Do epigenetic changes caused by commensal microbiota contribute to development of ocular disease? A review of evidence.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00257-5

By:

Nayyar, Ashima;
Gindina, Sofya;
Barron, Arturo;
Hu, Yan;
Danias, John

Publication type:

Article

Metabolomic profiling of metoprolol hypertension treatment reveals altered gut microbiota-derived urinary metabolites.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00260-w

By:

Brocker, Chad N.;
Velenosi, Thomas;
Flaten, Hania K.;
McWilliams, Glenn;
McDaniel, Kyle;
Shelton, Shelby K.;
Saben, Jessica;
Krausz, Kristopher W.;
Gonzalez, Frank J.;
Monte, Andrew A.

Publication type:

Article

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00262-8

By:

Luczkowska, Karolina;
Stekelenburg, Caroline;
Sloan-Béna, Frédérique;
Ranza, Emmanuelle;
Gastaldi, Giacomo;
Schwitzgebel, Valérie;
Maechler, Pierre

Publication type:

Article

TRPM3_miR-204: a complex locus for eye development and disease.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00258-4

By:

Shiels, Alan

Publication type:

Article

Identification and characterization of methylation-mediated transcriptional dysregulation dictate methylation roles in preeclampsia.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-0256-9

By:

Zhao, Shuyu;
Lv, Nan;
Li, Yan;
Liu, Tianyi;
Sun, Yuhong;
Chu, Xiaodan

Publication type:

Article

Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: implications for clinical pharmacogenomics.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-019-0254-y

By:

Koromina, Maria;
Koutsilieri, Stefania;
Patrinos, George P.

Publication type:

Article

Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-019-0253-z

By:

Ou, Zhanhui;
Chen, Zhiheng;
Yin, Minna;
Deng, Yu;
Liang, Yunhao;
Wang, Wenjun;
Yao, Yuanqing;
Sun, Ling

Publication type:

Article

Investigating diagnostic sequencing techniques for CADASIL diagnosis.

Published in:

Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-019-0255-x

By:

Dunn, P. J.;
Maksemous, N.;
Smith, R. A.;
Sutherland, H. G.;
Haupt, L. M.;
Griffiths, L. R.

Publication type:

Article