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Select item 93247621.

Prenatal Diagnosis of Neu–Laxova Syndrome

Adriana Serrano Olave, Alba Padín López, María Martín Cruz, Susana Monís Rodríguez, Isidoro Narbona Arias, Jesús S. Jiménez López

Diagnostics (Basel) 2022 Jul; 12(7): 1535. Published online 2022 Jun 23. doi: 10.3390/diagnostics12071535

PMCID:: PMC9324762

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Select item 62771602.

Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency

Takuya Takeichi, Yusuke Okuno, Akane Kawamoto, Takeshi Inoue, Eiko Nagamoto, Chiaki Murase, Eri Shimizu, Kenichi Tanaka, Yuichi Kageshita, Satoshi Fukushima, Michihiro Kono, Junko Ishikawa, Hironobu Ihn, Yoshiyuki Takahashi, Masashi Akiyama

J Lipid Res. 2018 Dec; 59(12): 2413–2420. Published online 2018 Oct 22. doi: 10.1194/jlr.P087536

PMCID:: PMC6277160

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Select item 59525463.

A New Case of Neu–Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia

Behzad Barekatain, Alireza Sadeghnia, Elham Rouhani, Ghazaleh Jamalipoor Soofi

Adv Biomed Res. 2018; 7: 68. Published online 2018 Apr 24. doi: 10.4103/abr.abr_143_17

PMCID:: PMC5952546

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Select item 41571444.

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Rocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniene, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Hülya Kayserili, Nursel Elcioglu, Siavash Ghaderi-Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia Curry, Malcolm G. MacKenzie, Kym M. Boycott, Christian Gilissen, Andreas R. Janecke, Alexander Hoischen, Martin Zenker

Am J Hum Genet. 2014 Sep 4; 95(3): 285–293. doi: 10.1016/j.ajhg.2014.07.012

PMCID:: PMC4157144

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Select item 41214795.

Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Ranad Shaheen, Zuhair Rahbeeni, Amal Alhashem, Eissa Faqeih, Qi Zhao, Yong Xiong, Agaadir Almoisheer, Sarah M. Al-Qattan, Halima A. Almadani, Noufa Al-Onazi, Badi S. Al-Baqawi, Mohammad Ali Saleh, Fowzan S. Alkuraya

Am J Hum Genet. 2014 Jun 5; 94(6): 898–904. doi: 10.1016/j.ajhg.2014.04.015

PMCID:: PMC4121479

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Select item 39391586.

Prenatal diagnosis and postmortem findings of Neu-laxova syndrome

Ebru Tarim, Filiz Bolat

J Turk Ger Gynecol Assoc. 2010; 11(4): 225–227. Published online 2010 Dec 1. doi: 10.5152/jtgga.2010.44

PMCID:: PMC3939158

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Select item 38702197.

A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Deren Özcan, Murat Derbent, Deniz Seçkin, Yunus Emre Bikmaz, Muhteşem Ağildere, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Berkan Gürakan

Ann Dermatol. 2013 Nov; 25(4): 483–488. Published online 2013 Nov 30. doi: 10.5021/ad.2013.25.4.483

PMCID:: PMC3870219

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Select item 23951778.

Nuclear Localization Sequences in Cytomegalovirus Capsid Assembly Proteins (UL80 Proteins) Are Required for Virus Production: Inactivating NLS1, NLS2, or Both Affects Replication to Strikingly Different Extents

Nang L. Nguyen, Amy N. Loveland, Wade Gibson

J Virol. 2008 Jun; 82(11): 5381–5389. Published online 2008 Mar 19. doi: 10.1128/JVI.02697-07

PMCID:: PMC2395177

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Select item 10490559.

Additional manifestations of the Neu-Laxova syndrome.

S B Turkel, A J Ebbin, J W Towner

J Med Genet. 1983 Jun; 20(3): 227–229. doi: 10.1136/jmg.20.3.227

PMCID:: PMC1049055

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Select item 8899510.

Prenatal diagnosis of Neu-Laxova syndrome: a case report

Halil Aslan, Ahmet Gul, Ibrahim Polat, Cihan Mutaf, Mehmet Agar, Yavuz Ceylan

BMC Pregnancy Childbirth. 2002; 2: 1. Published online 2002 Feb 19. doi: 10.1186/1471-2393-2-1

PMCID:: PMC88995

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Select item 1045995911.

Contribution of the Nuclear Localization Sequences of Influenza A Nucleoprotein to the Nuclear Import of the Influenza Genome in Infected Cells

Nhan L. T. Nguyen, Wei Wu, Nelly Panté

Viruses. 2023 Aug; 15(8): 1641. Published online 2023 Jul 28. doi: 10.3390/v15081641

PMCID:: PMC10459959

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Select item 1045235512.

Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization

Francesco Marchesani, Annalisa Michielon, Elisabetta Viale, Annalisa Bianchera, Davide Cavazzini, Loredano Pollegioni, Giulia Murtas, Andrea Mozzarelli, Stefano Bettati, Alessio Peracchi, Barbara Campanini, Stefano Bruno

Biomolecules. 2023 Aug; 13(8): 1219. Published online 2023 Aug 4. doi: 10.3390/biom13081219

PMCID:: PMC10452355

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Select item 968446113.

RNA-controlled nucleocytoplasmic shuttling of mRNA decay factors regulates mRNA synthesis and a novel mRNA decay pathway

Shiladitya Chattopadhyay, Jose Garcia-Martinez, Gal Haimovich, Jonathan Fischer, Aya Khwaja, Oren Barkai, Silvia Gabriela Chuartzman, Maya Schuldiner, Ron Elran, Miriam I. Rosenberg, Shira Urim, Shubham Deshmukh, Katherine E. Bohnsack, Markus T. Bohnsack, Jose E. Perez-Ortin, Mordechai Choder

Nat Commun. 2022; 13: 7184. Published online 2022 Nov 23. doi: 10.1038/s41467-022-34417-z

PMCID:: PMC9684461

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Select item 915706814.

Dual targeting of Saccharomyces cerevisiae Pso2 to mitochondria and the nucleus, and its functional relevance in the repair of DNA interstrand crosslinks

Shravanahalli C Somashekara, Kalappa Muniyappa

G3 (Bethesda) 2022 Jun; 12(6): jkac066. Published online 2022 Apr 28. doi: 10.1093/g3journal/jkac066

PMCID:: PMC9157068

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Select item 744431615.

A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1

Amy Sirr, Russell S. Lo, Gareth A. Cromie, Adrian C. Scott, Julee Ashmead, Mirutse Heyesus, Aimée M. Dudley

J Inherit Metab Dis. Author manuscript; available in PMC 2021 Jul 1.

Published in final edited form as: J Inherit Metab Dis. 2020 Jul; 43(4): 758–769. Published online 2020 Feb 27. doi: 10.1002/jimd.12227

PMCID:: PMC7444316

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Select item 729621316.

The Human DNA Mismatch Repair Protein MSH3 Contains Nuclear Localization and Export Signals That Enable Nuclear-Cytosolic Shuttling in Response to Inflammation

Stephanie S. Tseng-Rogenski, Koji Munakata, Daniel Y. Choi, Paul K. Martin, Supal Mehta, Minoru Koi, Wei Zheng, Yang Zhang, John M. Carethers

Mol Cell Biol. 2020 Jul; 40(13): e00029-20. Prepublished online 2020 Apr 13. Published online 2020 Jun 15. doi: 10.1128/MCB.00029-20

PMCID:: PMC7296213

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Select item 712563217.

Peptide domains involved in the localization of the porcine reproductive and respiratory syndrome virus nucleocapsid protein to the nucleolus

Raymond R.R. Rowland, Paula Schneider, Ying Fang, Sarah Wootton, Dongwan Yoo, David A. Benfield

Virology. 2003 Nov 10; 316(1): 135–145. Published online 2003 Oct 29. doi: 10.1016/S0042-6822(03)00482-3

PMCID:: PMC7125632

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Select item 711409518.

Nuclear/nucleolar localization properties of C-terminal nucleocapsid protein of SARS coronavirus

Khalid Amine Timani, Qingjiao Liao, Linbai Ye, Yingchun Zeng, Jing Liu, Yi Zheng, Li Ye, Xiaojun Yang, Kong Lingbao, Jingrong Gao, Ying Zhu

Virus Res. 2005 Dec; 114(1): 23–34. Published online 2005 Jun 29. doi: 10.1016/j.virusres.2005.05.007

PMCID:: PMC7114095

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Select item 701723819.

PlexinB1 Promotes Nuclear Translocation of the Glucocorticoid Receptor

Magali Williamson, Ritu Garg, Claire M. Wells

Cells. 2020 Jan; 9(1): 3. Published online 2019 Dec 18. doi: 10.3390/cells9010003

PMCID:: PMC7017238

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Select item 626953920.

Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins

Teruaki Iyama, Mustafa N. Okur, Tyler Golato, Daniel R. McNeill, Huiming Lu, Royce Hamilton, Aishwarya Raja, Vilhelm A. Bohr, David M. Wilson, III

Sci Rep. 2018; 8: 17490. Published online 2018 Nov 30. doi: 10.1038/s41598-018-36027-6

PMCID:: PMC6269539

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