Literature DB >> 32256295

Mutated NUP188 and Other Nucleoporins as Gateways to Developmental Syndromes.

Martin Poot.   

Abstract

Entities:  

Year:  2020        PMID： 32256295      PMCID： PMC7109414          DOI： 10.1159/000506410

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  23 in total

Review 1.  The structure of the nuclear pore complex.

Authors:  André Hoelz; Erik W Debler; Günter Blobel
Journal:  Annu Rev Biochem       Date:  2011       Impact factor: 23.643

2.  Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Authors:  Anas M Alazami; Nisha Patel; Hanan E Shamseldin; Shamsa Anazi; Mohammed S Al-Dosari; Fatema Alzahrani; Hadia Hijazi; Muneera Alshammari; Mohammed A Aldahmesh; Mustafa A Salih; Eissa Faqeih; Amal Alhashem; Fahad A Bashiri; Mohammed Al-Owain; Amal Y Kentab; Sameera Sogaty; Saeed Al Tala; Mohamad-Hani Temsah; Maha Tulbah; Rasha F Aljelaify; Saad A Alshahwan; Mohammed Zain Seidahmed; Adnan A Alhadid; Hesham Aldhalaan; Fatema AlQallaf; Wesam Kurdi; Majid Alfadhel; Zainab Babay; Mohammad Alsogheer; Namik Kaya; Zuhair N Al-Hassnan; Ghada M H Abdel-Salam; Nouriya Al-Sannaa; Fuad Al Mutairi; Heba Y El Khashab; Saeed Bohlega; Xiaofei Jia; Henry C Nguyen; Rakad Hammami; Nouran Adly; Jawahir Y Mohamed; Firdous Abdulwahab; Niema Ibrahim; Ewa A Naim; Banan Al-Younes; Brian F Meyer; Mais Hashem; Ranad Shaheen; Yong Xiong; Mohamed Abouelhoda; Abdulrahman A Aldeeri; Dorota M Monies; Fowzan S Alkuraya
Journal:  Cell Rep       Date:  2014-12-31       Impact factor: 9.423

Review 3.  Nucleoporin genes in human diseases.

Authors:  Valeria Nofrini; Danika Di Giacomo; Cristina Mecucci
Journal:  Eur J Hum Genet       Date:  2016-04-13       Impact factor: 4.246

4.  Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

Authors:  Rasim Ozgur Rosti; Bethany N Sotak; Stephanie L Bielas; Gifty Bhat; Jennifer L Silhavy; Ayca Dilruba Aslanger; Umut Altunoglu; Ilmay Bilge; Mehmet Tasdemir; Amanda D Yzaguirrem; Damir Musaev; Sofia Infante; Whitney Thuong; Isaac Marin-Valencia; Stanley F Nelson; Hulya Kayserili; Joseph G Gleeson
Journal:  J Med Genet       Date:  2017-03-09       Impact factor: 6.318

5.  The Nup155-mediated organisation of inner nuclear membrane proteins is independent of Nup155 anchoring to the metazoan nuclear pore complex.

Authors:  Kiran Busayavalasa; Xin Chen; Ann-Kristin Östlund Farrants; Nicole Wagner; Nafiseh Sabri
Journal:  J Cell Sci       Date:  2012-06-20       Impact factor: 5.285

6.  The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex.

Authors:  Gandhi Theerthagiri; Nathalie Eisenhardt; Heinz Schwarz; Wolfram Antonin
Journal:  J Cell Biol       Date:  2010-06-21       Impact factor: 10.539

Review 7.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

8.  Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.

Authors:  Noriko Miyake; Hiroyasu Tsukaguchi; Eriko Koshimizu; Akemi Shono; Satoko Matsunaga; Masaaki Shiina; Yasuhiro Mimura; Shintaro Imamura; Tomonori Hirose; Koji Okudela; Kandai Nozu; Yuko Akioka; Motoshi Hattori; Norishige Yoshikawa; Akiko Kitamura; Hae Il Cheong; Shoji Kagami; Michiaki Yamashita; Atsushi Fujita; Satoko Miyatake; Yoshinori Tsurusaki; Mitsuko Nakashima; Hirotomo Saitsu; Kenichi Ohashi; Naoko Imamoto; Akihide Ryo; Kazuhiro Ogata; Kazumoto Iijima; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2015-09-24       Impact factor: 11.025

9.  NUP155 insufficiency recalibrates a pluripotent transcriptome with network remodeling of a cardiogenic signaling module.

Authors:  Claudia C Preston; Saranya P Wyles; Santiago Reyes; Emily C Storm; Bruce W Eckloff; Randolph S Faustino
Journal:  BMC Syst Biol       Date:  2018-05-30

10.  Nup50 is required for cell differentiation and exhibits transcription-dependent dynamics.

Authors:  Abigail L Buchwalter; Yun Liang; Martin W Hetzer
Journal:  Mol Biol Cell       Date:  2014-06-18       Impact factor: 4.138
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