Literature DB >> 31306055

Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning.

Weicheng Chen1, Yuan Zhang2, Sunhu Yang3, Zhiwen Shi4, Weijia Zeng4, Zhouping Lu2, Xiangyu Zhou.   

Abstract

Entities:  

Keywords:  exome; genetics; heterotaxy; human; nuclear pore complex; situs inversus

Year:  2019        PMID： 31306055     DOI： 10.1161/CIRCGEN.119.002492

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  7 in total

1.  Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.

Authors:  Weicheng Chen; Feifei Wang; Weijia Zeng; Xinyan Zhang; Libing Shen; Yuan Zhang; Xiangyu Zhou
Journal:  Hum Genomics       Date:  2022-10-22       Impact factor: 6.481

Review 2.  Nucleoporins in cardiovascular disease.

Authors:  Ryan D Burdine; Claudia C Preston; Riley J Leonard; Tyler A Bradley; Randolph S Faustino
Journal:  J Mol Cell Cardiol       Date:  2020-03-21       Impact factor: 5.000

3.  Biallelic DNAH9 mutations are identified in Chinese patients with defective left-right patterning and cilia-related complex congenital heart disease.

Authors:  Weicheng Chen; Yuan Zhang; Libing Shen; Jialiang Zhu; Ke Cai; Zhouping Lu; Weijia Zeng; Jianyuan Zhao; Xiangyu Zhou
Journal:  Hum Genet       Date:  2022-01-20       Impact factor: 5.881

4.  Biallelic loss of function NEK3 mutations deacetylate α-tubulin and downregulate NUP205 that predispose individuals to cilia-related abnormal cardiac left-right patterning.

Authors:  Yuan Zhang; Weicheng Chen; Weijia Zeng; Zhouping Lu; Xiangyu Zhou
Journal:  Cell Death Dis       Date:  2020-11-23       Impact factor: 8.469

5.  Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.

Authors:  Dinu Antony; Elif Gulec Yilmaz; Alper Gezdirici; Lennart Slagter; Zeineb Bakey; Helen Bornaun; Ibrahim Cansaran Tanidir; Tran Van Dinh; Han G Brunner; Peter Walentek; Sebastian J Arnold; Rolf Backofen; Miriam Schmidts
Journal:  Front Genet       Date:  2022-04-13       Impact factor: 4.772

6.  High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.

Authors:  Maryam Najafi; Korbinian M Riedhammer; Aboulfazl Rad; Paria Najarzadeh Torbati; Riccardo Berutti; Isabel Schüle; Sophie Schroda; Thomas Meitinger; Jasmina Ćomić; Simin Sadeghi Bojd; Tayebeh Baranzehi; Azadeh Shojaei; Anoush Azarfar; Mahmood Reza Khazaei; Anna Köttgen; Rolf Backofen; Ehsan Ghayoor Karimiani; Julia Hoefele; Miriam Schmidts
Journal:  Front Pediatr       Date:  2022-09-22       Impact factor: 3.569

Review 7.  Xenopus as a platform for discovery of genes relevant to human disease.

Authors:  Valentyna Kostiuk; Mustafa K Khokha
Journal:  Curr Top Dev Biol       Date:  2021-04-23       Impact factor: 4.897
  7 in total

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