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Literature DB >> 27071718

Nucleoporin genes in human diseases.

Valeria Nofrini¹, Danika Di Giacomo¹, Cristina Mecucci¹.

Abstract

Nuclear pore complexes (NPCs) are large channels spanning the nuclear envelope that mediate nucleocytoplasmic transport. They are composed of multiple copies of ~30 proteins termed nucleoporins (NUPs). Alterations in NUP genes are linked to several human neoplastic and non-neoplastic diseases. This review focuses on NUPs, their genes, localization, function in the NPC and involvement in human diseases.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2016 PMID： 27071718 PMCID： PMC5027676 DOI： 10.1038/ejhg.2016.25

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

70 in total

1. NUP98/11p15 translocations affect CD34+ cells in myeloid and T lymphoid leukemias.

Authors: Barbara Crescenzi; Valeria Nofrini; Gianluca Barba; Caterina Matteucci; Danika Di Giacomo; Paolo Gorello; Berna Beverloo; Antonella Vitale; Iwona Wlodarska; Peter Vandenberghe; Roberta La Starza; Cristina Mecucci
Journal: Leuk Res Date: 2015-05-07 Impact factor: 3.156

2. Nuclear architecture dictates HIV-1 integration site selection.

Authors: Bruna Marini; Attila Kertesz-Farkas; Hashim Ali; Bojana Lucic; Kamil Lisek; Lara Manganaro; Sandor Pongor; Roberto Luzzati; Alessandra Recchia; Fulvio Mavilio; Mauro Giacca; Marina Lusic
Journal: Nature Date: 2015-03-02 Impact factor: 49.962

3. Knock-in of a FLT3/ITD mutation cooperates with a NUP98-HOXD13 fusion to generate acute myeloid leukemia in a mouse model.

Authors: Sarah Greenblatt; Li Li; Christopher Slape; Bao Nguyen; Rachel Novak; Amy Duffield; David Huso; Stephen Desiderio; Michael J Borowitz; Peter Aplan; Donald Small
Journal: Blood Date: 2012-02-08 Impact factor: 22.113

4. Relocation of the carboxyterminal part of CAN from the nuclear envelope to the nucleus as a result of leukemia-specific chromosome rearrangements.

Authors: M Fornerod; J Boer; S van Baal; M Jaeglé; M von Lindern; K G Murti; D Davis; J Bonten; A Buijs; G Grosveld
Journal: Oncogene Date: 1995-05-04 Impact factor: 9.867

5. Tumor marker nucleoporin 88 kDa regulates nucleocytoplasmic transport of NF-kappaB.

Authors: Nozomi Takahashi; Jeroen W J van Kilsdonk; Benedikt Ostendorf; Ruben Smeets; Sophia W M Bruggeman; Angel Alonso; Fons van de Loo; Matthias Schneider; Wim B van den Berg; Guido W M Swart
Journal: Biochem Biophys Res Commun Date: 2008-07-11 Impact factor: 3.575

6. Loss of p53 accelerates the complications of myelodysplastic syndrome in a NUP98-HOXD13-driven mouse model.

Authors: Haiming Xu; Silvia Menendez; Brigitte Schlegelberger; Narae Bae; Peter D Aplan; Gudrun Göhring; Tony R Deblasio; Stephen D Nimer
Journal: Blood Date: 2012-08-27 Impact factor: 22.113

7. 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

8. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Authors: Derek E Neilson; Mark D Adams; Caitlin M D Orr; Deborah K Schelling; Robert M Eiben; Douglas S Kerr; Jane Anderson; Alexander G Bassuk; Ann M Bye; Anne-Marie Childs; Antonia Clarke; Yanick J Crow; Maja Di Rocco; Christian Dohna-Schwake; Gregor Dueckers; Alfonso E Fasano; Artemis D Gika; Dimitris Gionnis; Mark P Gorman; Padraic J Grattan-Smith; Annette Hackenberg; Alice Kuster; Markus G Lentschig; Eduardo Lopez-Laso; Elysa J Marco; Sotiria Mastroyianni; Julie Perrier; Thomas Schmitt-Mechelke; Serenella Servidei; Angeliki Skardoutsou; Peter Uldall; Marjo S van der Knaap; Karrie C Goglin; David L Tefft; Cristin Aubin; Philip de Jager; David Hafler; Matthew L Warman
Journal: Am J Hum Genet Date: 2009-01 Impact factor: 11.025

9. Modulation of chromatin position and gene expression by HDAC4 interaction with nucleoporins.

Authors: Izhak Kehat; Federica Accornero; Bruce J Aronow; Jeffery D Molkentin
Journal: J Cell Biol Date: 2011-04-04 Impact factor: 10.539

Review 10. Nuclear pore proteins and the control of genome functions.

Authors: Arkaitz Ibarra; Martin W Hetzer
Journal: Genes Dev Date: 2015-02-15 Impact factor: 11.361

41 in total

1. Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Authors: Ginevra Zanni; P De Magistris; M Nardella; E Bellacchio; S Barresi; A Sferra; A Ciolfi; M Motta; H Lue; D Moreno-Andres; M Tartaglia; E Bertini; Wolfram Antonin
Journal: Cerebellum Date: 2019-06 Impact factor: 3.847

Review 2. Causes and consequences of nuclear gene positioning.

Authors: Sigal Shachar; Tom Misteli
Journal: J Cell Sci Date: 2017-04-12 Impact factor: 5.285

Review 3. The roles of the nuclear pore complex in cellular dysfunction, aging and disease.

Authors: Stephen Sakuma; Maximiliano A D'Angelo
Journal: Semin Cell Dev Biol Date: 2017-05-12 Impact factor: 7.727

4. Mutated NUP188 and Other Nucleoporins as Gateways to Developmental Syndromes.

Authors: Martin Poot
Journal: Mol Syndromol Date: 2020-02-15

5. Integrative structure and functional anatomy of a nuclear pore complex.

Authors: Seung Joong Kim; Javier Fernandez-Martinez; Ilona Nudelman; Yi Shi; Wenzhu Zhang; Barak Raveh; Thurston Herricks; Brian D Slaughter; Joanna A Hogan; Paula Upla; Ilan E Chemmama; Riccardo Pellarin; Ignacia Echeverria; Manjunatha Shivaraju; Azraa S Chaudhury; Junjie Wang; Rosemary Williams; Jay R Unruh; Charles H Greenberg; Erica Y Jacobs; Zhiheng Yu; M Jason de la Cruz; Roxana Mironska; David L Stokes; John D Aitchison; Martin F Jarrold; Jennifer L Gerton; Steven J Ludtke; Christopher W Akey; Brian T Chait; Andrej Sali; Michael P Rout
Journal: Nature Date: 2018-03-14 Impact factor: 49.962

6. Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.

Authors: Rini Rossanti; Akemi Shono; Kenichiro Miura; Motoshi Hattori; Tomohiko Yamamura; Keita Nakanishi; Shogo Minamikawa; Junya Fujimura; Tomoko Horinouchi; China Nagano; Nana Sakakibara; Hiroshi Kaito; Hiroaki Nagase; Naoya Morisada; Katsuhiko Asanuma; Masafumi Matsuo; Kandai Nozu; Kazumoto Iijima
Journal: J Hum Genet Date: 2019-04-23 Impact factor: 3.172

Review 7. Nuclear pore complexes - a doorway to neural injury in neurodegeneration.

Authors: Alyssa N Coyne; Jeffrey D Rothstein
Journal: Nat Rev Neurol Date: 2022-04-29 Impact factor: 42.937

8. Linking Nucleoporins, Mitosis, and Colon Cancer.

Authors: Richard W Wong; Maximiliano D'Angelo
Journal: Cell Chem Biol Date: 2016-05-19 Impact factor: 8.116

Review 9. Oncogenic potential of nucleoporins in non-hematological cancers: recent update beyond chromosome translocation and gene fusion.

Authors: Adhiraj Roy; Gopeshwar Narayan
Journal: J Cancer Res Clin Oncol Date: 2019-10-25 Impact factor: 4.553

10. Obesity-associated gene TMEM18 has a role in the central control of appetite and body weight regulation.

Authors: Rachel Larder; M F Michelle Sim; Pawan Gulati; Robin Antrobus; Y C Loraine Tung; Debra Rimmington; Eduard Ayuso; Joseph Polex-Wolf; Brian Y H Lam; Cristina Dias; Darren W Logan; Sam Virtue; Fatima Bosch; Giles S H Yeo; Vladimir Saudek; Stephen O'Rahilly; Anthony P Coll
Journal: Proc Natl Acad Sci U S A Date: 2017-08-15 Impact factor: 11.205