Literature DB >> 36158058

The Expanding Phenotypic Spectrum of NUP188 Variants Points Toward Multiple Biological Pathways.

Martin Poot.   

Abstract

Entities:  

Year:  2022        PMID： 36158058      PMCID： PMC9421690          DOI： 10.1159/000525275

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


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  12 in total

1.  Nucleoporin Nup188 is required for chromosome alignment in mitosis.

Authors:  Go Itoh; Shiro Sugino; Masanori Ikeda; Mayumi Mizuguchi; Shin-ichiro Kanno; Mohammed A Amin; Kenji Iemura; Akira Yasui; Toru Hirota; Kozo Tanaka
Journal:  Cancer Sci       Date:  2013-05-02       Impact factor: 6.716

Review 2.  Structural Genome Variations Related to Craniosynostosis.

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2018-07-07

Review 3.  Genetic Causes of Craniosynostosis: An Update.

Authors:  Jacqueline A C Goos; Irene M J Mathijssen
Journal:  Mol Syndromol       Date:  2018-08-15

4.  NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?

Authors:  Anna Sandestig; Karolina Engström; Alexander Pepler; Ingela Danielsson; Per Odelberg-Johnsson; Saskia Biskup; Anja Holz; Margarita Stefanova
Journal:  Mol Syndromol       Date:  2019-12-10

5.  Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

Authors:  Alison M Muir; Jennifer L Cohen; Sarah E Sheppard; Pavithran Guttipatti; Tsz Y Lo; Natalie Weed; Dan Doherty; Danielle DeMarzo; Christina R Fagerberg; Lars Kjærsgaard; Martin J Larsen; Patrick Rump; Katharina Löhner; Yoel Hirsch; David A Zeevi; Elaine H Zackai; Elizabeth Bhoj; Yuanquan Song; Heather C Mefford
Journal:  Am J Hum Genet       Date:  2020-04-09       Impact factor: 11.025

6.  Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.

Authors:  Florencia Del Viso; Fang Huang; Jordan Myers; Madeleine Chalfant; Yongdeng Zhang; Nooreen Reza; Joerg Bewersdorf; C Patrick Lusk; Mustafa K Khokha
Journal:  Dev Cell       Date:  2016-09-01       Impact factor: 12.270

7.  Global genetic analysis in mice unveils central role for cilia in congenital heart disease.

Authors:  You Li; Nikolai T Klena; George C Gabriel; Xiaoqin Liu; Andrew J Kim; Kristi Lemke; Yu Chen; Bishwanath Chatterjee; William Devine; Rama Rao Damerla; Chienfu Chang; Hisato Yagi; Jovenal T San Agustin; Mohamed Thahir; Shane Anderton; Caroline Lawhead; Anita Vescovi; Herbert Pratt; Judy Morgan; Leslie Haynes; Cynthia L Smith; Janan T Eppig; Laura Reinholdt; Richard Francis; Linda Leatherbury; Madhavi K Ganapathiraju; Kimimasa Tobita; Gregory J Pazour; Cecilia W Lo
Journal:  Nature       Date:  2015-03-25       Impact factor: 49.962

Review 8.  The Genetic and Environmental Factors Underlying Hypospadias.

Authors:  Aurore Bouty; Katie L Ayers; Andrew Pask; Yves Heloury; Andrew H Sinclair
Journal:  Sex Dev       Date:  2015-11-28       Impact factor: 1.824

Review 9.  New frontiers on the molecular underpinnings of hypospadias according to severity.

Authors:  Coriness Piñeyro-Ruiz; Horacio Serrano; Marcos R Pérez-Brayfield; Juan Carlos Jorge
Journal:  Arab J Urol       Date:  2020-05-24

Review 10.  Genetics of Congenital Heart Disease.

Authors:  Kylia Williams; Jason Carson; Cecilia Lo
Journal:  Biomolecules       Date:  2019-12-16
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