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Select item 94106181.

Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister

Hengzhou Bai, Dingming Li, Yi Zheng, XiaoHui Jiang

Medicine (Baltimore) 2022 Aug 26; 101(34): e30350. Published online 2022 Aug 26. doi: 10.1097/MD.0000000000030350

PMCID:: PMC9410618

Abstract Article PDF–847K

Select item 90823812.

Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan

Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Ruriko Kitao, Takehiko Morimoto, Takaki Taniguchi, Mika Takeuchi, Jun Takei, Yu Hiramatsu, Yusuke Sakiyama, Akihiro Hashiguchi, Yuji Okamoto, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima

Ann Clin Transl Neurol. 2022 May; 9(5): 747–755. Published online 2022 Apr 28. doi: 10.1002/acn3.51555

PMCID:: PMC9082381

Abstract Article PDF–1.3M

Select item 90146053.

Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

Mostafa Saghi, Kolsoum InanlooRahatloo, Afagh Alavi, Kimia Kahrizi, Hossein Najmabadi

BMC Med Genomics. 2022; 15: 89. Published online 2022 Apr 18. doi: 10.1186/s12920-022-01237-5

PMCID:: PMC9014605

Abstract Article PDF–1.9M

Select item 78207224.

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

Djurdja Djordjevic, Maxime Pinard, Marie-Soleil Gauthier, Constance Smith-Hicks, Trevor L. Hoffman, Nicole I. Wolf, Renske Oegema, Ellen van Binsbergen, Berivan Baskin, Geneviève Bernard, Sébastien Fribourg, Benoit Coulombe, Grace Yoon

Am J Hum Genet. 2021 Jan 7; 108(1): 186–193. Published online 2021 Jan 7. doi: 10.1016/j.ajhg.2020.12.002

Correction in:: Am J Hum Genet. 2022 Apr 7; 109(4): 759–763.

PMCID:: PMC7820722

Abstract Article PDF–1.5M

Select item 73186435.

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

Eline A. Verberne, Lotje Dalen Meurs, Nicole I. Wolf, Mieke M. van Haelst

Am J Med Genet A. 2020 Jul; 182(7): 1776–1779. Published online 2020 Apr 22. doi: 10.1002/ajmg.a.61600

PMCID:: PMC7318643

Abstract Article PDF–856K

Select item 55671466.

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

Jamal Ghoumid, Florence Petit, Odile Boute-Benejean, Frédéric Frenois, Maryse Cartigny, Clémence Vanlerberghe, Thomas Smol, Roseline Caumes, Nicolas de ROUX, Sylvie Manouvrier-Hanu

Eur J Hum Genet. 2017 Aug; 25(8): 1011–1014. Published online 2017 Jun 7. doi: 10.1038/ejhg.2017.73

PMCID:: PMC5567146

Abstract Article PDF–902K

Select item 51896737.

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies

Mary R. Richards, Lacey Plummer, Yee-Ming Chan, Margaret F. Lippincott, Richard Quinton, Philip Kumanov, Stephanie B. Seminara

J Med Genet. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: J Med Genet. 2017 Jan; 54(1): 19–25. Published online 2016 Aug 10. doi: 10.1136/jmedgenet-2016-104064

PMCID:: PMC5189673

Abstract Article PDF–634K

Select item 45200208.

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel Á. Martos-Moreno, Luan T. Tran, William Benko, Marjo S. van der Knaap, Rosalina M. L. van Spaendonk, Nicole I. Wolf, Geneviève Bernard

Orphanet J Rare Dis. 2015; 10: 69. Published online 2015 Jun 5. doi: 10.1186/s13023-015-0279-9

PMCID:: PMC4520020

Abstract Article PDF–1.2M

Select item 32134039.

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

Am J Hum Genet. 2011 Nov 11; 89(5): 652–655. doi: 10.1016/j.ajhg.2011.10.006

PMCID:: PMC3213403

Abstract Article PDF–526K

Select item 484423710.

Diffuse hypomyelination is not obligate for POLR3-related disorders

Roberta La Piana, Ferdy K. Cayami, Luan T. Tran, Kether Guerrero, Rosalina van Spaendonk, Katrin Õunap, Sander Pajusalu, Tobias Haack, Evangeline Wassmer, Dagmar Timmann, Hanna Mierzewska, Bwee T. Poll-Thé, Chirag Patel, Helen Cox, Tahir Atik, Huseyin Onay, Ferda Ozkınay, Adeline Vanderver, Marjo S. van der Knaap, Nicole I. Wolf, Geneviève Bernard

Neurology. 2016 Apr 26; 86(17): 1622–1626. doi: 10.1212/WNL.0000000000002612

PMCID:: PMC4844237

Abstract Article PDF–362K

Select item 424846111.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik Sistermans, Coriene Catsman-Berrevoets, Johan M. Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S. van der Knaap, Geneviève Bernard

Neurology. 2014 Nov 18; 83(21): 1898–1905. doi: 10.1212/WNL.0000000000001002

PMCID:: PMC4248461

Abstract Article PDF–703K

Select item 395483212.

A Regulatory Effect of INMAP on Centromere Proteins: Antisense INMAP Induces CENP-B Variation and Centromeric Halo

Tan Tan, Zhe Chen, Yan Lei, Yan Zhu, Qianjin Liang

PLoS One. 2014; 9(3): e91937. Published online 2014 Mar 14. doi: 10.1371/journal.pone.0091937

PMCID:: PMC3954832

Abstract Article PDF–920K

Select item 321339213.

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

Hirotomo Saitsu, Hitoshi Osaka, Masayuki Sasaki, Jun-ichi Takanashi, Keisuke Hamada, Akio Yamashita, Hidehiro Shibayama, Masaaki Shiina, Yukiko Kondo, Kiyomi Nishiyama, Yoshinori Tsurusaki, Noriko Miyake, Hiroshi Doi, Kazuhiro Ogata, Ken Inoue, Naomichi Matsumoto

Am J Hum Genet. 2011 Nov 11; 89(5): 644–651. doi: 10.1016/j.ajhg.2011.10.003

PMCID:: PMC3213392

Abstract Article PDF–889K

Select item 915191214.

A cancer-associated RNA polymerase III identity drives robust transcription and expression of snaR-A noncoding RNA

Kevin Van Bortle, David P. Marciano, Qing Liu, Tristan Chou, Andrew M. Lipchik, Sanjay Gollapudi, Benjamin S. Geller, Emma Monte, Rohinton T. Kamakaka, Michael P. Snyder

Nat Commun. 2022; 13: 3007. Published online 2022 May 30. doi: 10.1038/s41467-022-30323-6

PMCID:: PMC9151912

Abstract Article PDF–3.0M

Select item 782322815.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Luan T Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M L van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L Bonkowsky, Coriene Catsman-Berrevoets, Pedro S Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak-Bialek, Ingeborg Krägeloh-Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atik, Brenda Banwell, William S Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klara Brozova, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice Fletcher, Maria Eugenia Garcia Garcia, Paolo Gasparini, Janina Gburek-Augustat, Dolores Gonzalez Moron, Aline Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M Hobson, A Micheil Innes, Marcelo Kauffman, Susan M Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, William McClintock, Meriel McEntagart, Fiona McKenzie, Serge Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando I Monton, Sebastien Moutton, Raymond P J Murphy, Miriam Nickel, Hüseyin Onay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Helio Pedro, Sandra Pekic, Mercedes Pineda Marfa, Amy Pizzino, Barbara Plecko, Bwee Tien Poll-The, Vera Popovic, Dietz Rating, Marie-France Rioux, Norberto Rodriguez Espinosa, Anne Ronan, John R Ostergaard, Elsa Rossignol, Rocio Sanchez-Carpintero, Anna Schossig, Nesrin Senbil, Laura K Sønderberg Roos, Cathy A Stevens, Matthis Synofzik, László Sztriha, Daniel Tibussek, Dagmar Timmann, Davide Tonduti, Bart P van de Warrenburg, Maria Vázquez-López, Sunita Venkateswaran, Pontus Wasling, Evangeline Wassmer, Richard I Webster, Gert Wiegand, Grace Yoon, Joost Rotteveel, Raphael Schiffmann, Marjo S van der Knaap, Adeline Vanderver, Gabriel Á Martos-Moreno, Constantin Polychronakos, Nicole I Wolf, Geneviève Bernard

J Clin Endocrinol Metab. 2021 Feb; 106(2): e660–e674. Published online 2020 Oct 1. doi: 10.1210/clinem/dgaa700

PMCID:: PMC7823228

Abstract Article

Select item 431205416.

INMAP Overexpression Inhibits Cell Proliferation, Induces Genomic Instability and Functions through p53/p21 Pathways

Yan Zhu, Yan Lei, Baochen Du, Yanbo Zheng, Xiangfeng Lu, Tan Tan, Jingting Kang, Le Sun, Qianjin Liang

PLoS One. 2015; 10(1): e0115704. Published online 2015 Jan 30. doi: 10.1371/journal.pone.0115704

PMCID:: PMC4312054

Abstract Article PDF–2.0M

Select item 360522417.

Genome-wide association study of Tourette Syndrome

Jeremiah M. Scharf, Dongmei Yu, Carol A. Mathews, Benjamin M. Neale, S. Evelyn Stewart, Jesen A Fagerness, Patrick Evans, Eric Gamazon, Christopher K. Edlund, Susan Service, Anna Tikhomirov, Lisa Osiecki, Cornelia Illmann, Anna Pluzhnikov, Anuar Konkashbaev, Lea K Davis, Buhm Han, Jacquelyn Crane, Priya Moorjani, Andrew T. Crenshaw, Melissa A. Parkin, Victor I. Reus, Thomas L. Lowe, Martha Rangel-Lugo, Sylvain Chouinard, Yves Dion, Simon Girard, Danielle C Cath, Jan H Smit, Robert A. King, Thomas Fernandez, James F. Leckman, Kenneth K. Kidd, Judith R. Kidd, Andrew J. Pakstis, Matthew State, Luis Diego Herrera, Roxana Romero, Eduardo Fournier, Paul Sandor, Cathy L Barr, Nam Phan, Varda Gross-Tsur, Fortu Benarroch, Yehuda Pollak, Cathy L. Budman, Ruth D. Bruun, Gerald Erenberg, Allan L Naarden, Paul C Lee, Nicholas Weiss, Barbara Kremeyer, Gabriel Bedoya Berrío, Desmond Campbell, Julio C. Cardona Silgado, William Cornejo Ochoa, Sandra C. Mesa Restrepo, Heike Muller, Ana V. Valencia Duarte, Gholson J Lyon, Mark Leppert, Jubel Morgan, Robert Weiss, Marco A. Grados, Kelley Anderson, Sarah Davarya, Harvey Singer, John Walkup, Joseph Jankovic, Jay A. Tischfield, Gary A. Heiman, Donald L. Gilbert, Pieter J. Hoekstra, Mary M. Robertson, Roger Kurlan, Chunyu Liu, J. Raphael Gibbs, Andrew Singleton, John Hardy, Eric Strengman, Roel Ophoff, Michael Wagner, Rainald Moessner, Daniel B. Mirel, Danielle Posthuma, Chiara Sabatti, Eleazar Eskin, David V. Conti, James A. Knowles, Andres Ruiz-Linares, Guy A. Rouleau, Shaun Purcell, Peter Heutink, Ben A. Oostra, William McMahon, Nelson Freimer, Nancy J. Cox, David L. Pauls

Mol Psychiatry. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Mol Psychiatry. 2013 Jun; 18(6): 721–728. Published online 2012 Aug 14. doi: 10.1038/mp.2012.69

PMCID:: PMC3605224

Abstract Article PDF–1.0M

Select item 274730118.

RNA Polymerase III Detects Cytosolic DNA and Induces Type-I Interferons Through the RIG-I Pathway

Yu-Hsin Chiu, John B. MacMillan, Zhijian J. Chen

Cell. Author manuscript; available in PMC 2010 Feb 7.

Published in final edited form as: Cell. 2009 Aug 7; 138(3): 576–591. Published online 2009 Jul 23. doi: 10.1016/j.cell.2009.06.015

PMCID:: PMC2747301

Abstract Article PDF–697K

Select item 387861619.

RIG-I dependent sensing of poly(dA-dT) via the induction of an RNA polymerase III transcribed RNA intermediate

Andrea Ablasser, Franz Bauernfeind, Gunther Hartmann, Eicke Latz, Katherine A. Fitzgerald, Veit Hornung

Nat Immunol. Author manuscript; available in PMC 2014 Jan 2.

Published in final edited form as: Nat Immunol. 2009 Oct; 10(10): 10.1038/ni.1779. Published online 2009 Jul 16. doi: 10.1038/ni.1779

PMCID:: PMC3878616

Abstract Article PDF–1.6M

Select item 199560820.

Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham study

Sudha Seshadri, Anita L DeStefano, Rhoda Au, Joseph M Massaro, Alexa S Beiser, Margaret Kelly-Hayes, Carlos S Kase, Ralph B D'Agostino, Sr, Charles DeCarli, Larry D Atwood, Philip A Wolf

BMC Med Genet. 2007; 8(Suppl 1): S15. Published online 2007 Sep 19. doi: 10.1186/1471-2350-8-S1-S15

PMCID:: PMC1995608

Abstract Article PDF–377K

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