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Items: 15

1.
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Davor Lessel, Ayse Bilge Ozel, Susan E. Campbell, Abdelkrim Saadi, Martin F. Arlt, Keisha Melodi McSweeney, Vasilica Plaiasu, Katalin Szakszon, Anna Szőllős, Cristina Rusu, Armando J. Rojas, Jaime Lopez-Valdez, Holger Thiele, Peter Nürnberg, Deborah A. Nickerson, Michael J. Bamshad, Jun Z. Li, Christian Kubisch, Thomas W. Glover, Leslie B. Gordon
Hum Genet. Author manuscript; available in PMC 2019 Jul 24.
Published in final edited form as: Hum Genet. 2018 Dec; 137(11-12): 921–939. Published online 2018 Nov 19. doi: 10.1007/s00439-018-1957-1
PMCID:
PMC6652186
AbstractArticlePDF–645K
2.
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
Karine Choquet, Diane Forget, Elisabeth Meloche, Marie-Josée Dicaire, Geneviève Bernard, Adeline Vanderver, Raphael Schiffmann, Marc R. Fabian, Martin Teichmann, Benoit Coulombe, Bernard Brais, Claudia L. Kleinman
J Biol Chem. 2019 May 3; 294(18): 7445–7459. Published online 2019 Mar 21. doi: 10.1074/jbc.RA118.006271
PMCID:
PMC6509492
AbstractArticlePDF–2.5M
3.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
Jennifer A. Wambach, Daniel J. Wegner, Nivedita Patni, Martin Kircher, Marcia C. Willing, Dustin Baldridge, Chao Xing, Anil K. Agarwal, Samantha A. Schrier Vergano, Chirag Patel, Dorothy K. Grange, Amy Kenney, Tasnim Najaf, Deborah A. Nickerson, Michael J. Bamshad, F. Sessions Cole, Abhimanyu Garg
Am J Hum Genet. 2018 Dec 6; 103(6): 968–975. Published online 2018 Nov 7. doi: 10.1016/j.ajhg.2018.10.010
PMCID:
PMC6288318
AbstractArticlePDF–1.0M
4.
The Largest Subunit of Human RNA Polymerase III Is Closely Related to the Largest Subunit of Yeast and Trypanosome RNA Polymerase III
Setareh Sepehri, Nouria Hernandez
Genome Res. 1997 Oct; 7(10): 1006–1019. doi: 10.1101/gr.7.10.1006
PMCID:
PMC310672
AbstractArticlePDF–667K
5.
Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2
Claudia Mertens, Ilse Hofmann, Zhengxin Wang, Martin Teichmann, Setareh Sepehri Chong, Martina Schnölzer, Werner W. Franke
Proc Natl Acad Sci U S A. 2001 Jul 3; 98(14): 7795–7800. Published online 2001 Jun 19. doi: 10.1073/pnas.141219498
PMCID:
PMC35421
AbstractArticlePDF–554K
6.
Whole exome sequencing in a child with acute disseminated encephalomyelitis, optic neuritis, and periodic fever syndrome: a case report
Pablo A. Ledesma, Juan Carlos Guerra, Manuel Burbano, Patricio Procel, Luis Alberto Pedroza
J Med Case Rep. 2019; 13: 368. Published online 2019 Dec 14. doi: 10.1186/s13256-019-2305-3
PMCID:
PMC6911267
AbstractArticlePDF–716K
7.
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic
SERGIO ALEJANDRO RODRÍGUEZ-QUIROGA, MARTA CORDOBA, DOLORES GONZÁLEZ-MORÓN, NANCY MEDINA, PATRICIA VEGA, CECILIA VAZQUEZ DUSEFANTE, TOMOKO ARAKAKI, NÉLIDA SUSANA GARRETTO, MARCELO ANDRES KAUFFMAN
Genet Res (Camb) 2015; 97: e10. Published online 2015 May 4. doi: 10.1017/S0016672315000087
PMCID:
PMC6863640
AbstractArticlePDF–106K
8.
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report
Shuiyan Wu, Zhenjiang Bai, Xingqiang Dong, Daoping Yang, Hongmei Chen, Jun Hua, Libing Zhou, Haitao Lv
BMC Pediatr. 2019; 19: 289. Published online 2019 Aug 22. doi: 10.1186/s12887-019-1656-7
PMCID:
PMC6704677
AbstractArticlePDF–1.7M
9.
Effects on prostate cancer cells of targeting RNA polymerase III
John L Petrie, Caroline Swan, Richard M Ingram, Fiona M Frame, Anne T Collins, Hélène Dumay-Odelot, Martin Teichmann, Norman J Maitland, Robert J White
Nucleic Acids Res. 2019 May 7; 47(8): 3937–3956. Published online 2019 Mar 1. doi: 10.1093/nar/gkz128
PMCID:
PMC6486637
AbstractArticlePDF–6.9M
10.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Brain. 2017 Jun; 140(6): 1561–1578. Published online 2017 Apr 27. doi: 10.1093/brain/awx095
Correction in:
Brain. 2018 Mar; 141(3): e21.
PMCID:
PMC6402316
AbstractArticlePDF–1.1M
11.
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Front Neurol. 2018; 9: 981. Published online 2018 Dec 4. doi: 10.3389/fneur.2018.00981
PMCID:
PMC6289125
AbstractArticlePDF–1.2M
12.
The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies
Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng
Sci Rep. 2016; 6: 35936. Published online 2016 Oct 25. doi: 10.1038/srep35936
PMCID:
PMC5078786
AbstractArticlePDF–661K
13.
Gene expression profile of whole blood cells differs in pregnant women with positive screening and negative diagnosis for gestational diabetes
Rafael B Gelaleti, Débora C Damasceno, Daisy M F Salvadori, Iracema M P Calderon, Roberto A A Costa, Fernanda Piculo, David C Martins, Marilza V C Rudge
BMJ Open Diabetes Res Care. 2016; 4(1): e000273. Published online 2016 Oct 13. doi: 10.1136/bmjdrc-2016-000273
PMCID:
PMC5073650
AbstractArticlePDF–884K
14.
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description
Roberta Battini, Silvano Bertelloni, Guja Astrea, Manuela Casarano, Lorena Travaglini, Giampiero Baroncelli, Rosa Pasquariello, Enrico Bertini, Giovanni Cioni
BMC Med Genet. 2015; 16: 53. Published online 2015 Jul 25. doi: 10.1186/s12881-015-0203-0
PMCID:
PMC4557838
AbstractArticlePDF–2.4M
15.
Human Cord Blood Derived Immature Basophils Show Dual Characteristics, Expressing Both Basophil and Eosinophil Associated Proteins
Jeanette Grundström, Jenny M. Reimer, Sofia E. Magnusson, Gunnar Nilsson, Sara Wernersson, Lars Hellman
PLoS One. 2012; 7(10): e48308. Published online 2012 Oct 31. doi: 10.1371/journal.pone.0048308
PMCID:
PMC3485157
AbstractArticlePDF–1.1M

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