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Select item 54379081.

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

Simon Edvardson, Laurence Prunetti, Aiman Arraf, Drago Haas, Jo Marie Bacusmo, Jennifer F Hu, Asas Ta-Shma, Peter C Dedon, Valérie de Crécy-Lagard, Orly Elpeleg

Eur J Hum Genet. 2017 May; 25(5): 545–551. Published online 2017 Mar 8. doi: 10.1038/ejhg.2017.30

PMCID:: PMC5437908

Abstract Article PDF–1.0M

Select item 45131262.

The Levels of a Universally Conserved tRNA Modification Regulate Cell Growth

Diego Rojas-Benitez, Patrick C. Thiaville, Valérie de Crécy-Lagard, Alvaro Glavic

J Biol Chem. 2015 Jul 24; 290(30): 18699–18707. Published online 2015 Jun 10. doi: 10.1074/jbc.M115.665406

PMCID:: PMC4513126

Abstract Article PDF–1.8M

Select item 20624973.

Systemic inactivation and phenotypic characterization of two-component systems in expression of Streptococcus mutans virulence properties

C.M. Lévesque, R.W. Mair, J.A Perry, P.C.Y. Lau, Y.-H. Li, D.G. Cvitkovitch

Lett Appl Microbiol. Author manuscript; available in PMC 2008 Apr 1.

Published in final edited form as: Lett Appl Microbiol. 2007 Oct; 45(4): 398–404. doi: 10.1111/j.1472-765X.2007.02203.x

PMCID:: PMC2062497

Abstract Article PDF–449K

Select item 149304.

Luv1p/Rki1p/Tcs3p/Vps54p, a Yeast Protein That Localizes to the Late Golgi and Early Endosome, Is Required for Normal Vacuolar Morphology.

Michael J. Conboy, Martha S. Cyert

Mol Biol Cell. 2000 Jul; 11(7): 2429–2443. doi: 10.1091/mbc.11.7.2429

PMCID:: PMC14930

Abstract Article PDF–635K

Select item 107236225.

A clinically-relevant residue of POLR1D is required for Drosophila development

Ryan J. Palumbo, Alana E. Belkevich, Haleigh G. Pascual, Bruce A. Knutson

Dev Dyn. Author manuscript; available in PMC 2023 Dec 15.

Published in final edited form as: Dev Dyn. 2022 Nov; 251(11): 1780–1797. Published online 2022 Jun 16. doi: 10.1002/dvdy.505

PMCID:: PMC10723622

Abstract Article PDF–2.4M

Select item 105795166.

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard

J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223

PMCID:: PMC10579516

Abstract Article PDF–669K

Select item 101833707.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Kelly Smallwood, Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P. Adam, Amber Begtrup, Debora R. Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, Maria J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussmann, Roger Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol J. Saunders, Rhonda Schnur, Matej Skorvanek, Susan L. Sell, Anne Slavotinek, Bonnie R. Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, K. Nicole Weaver

Am J Hum Genet. 2023 May 4; 110(5): 809–825. Published online 2023 Apr 18. doi: 10.1016/j.ajhg.2023.03.014

PMCID:: PMC10183370

Abstract Article PDF–4.3M

Select item 99279368.

Mandibulofacial dysostosis with alopecia results from ET_AR gain-of-function mutations via allosteric effects on ligand binding

Yukiko Kurihara, Toru Ekimoto, Christopher T. Gordon, Yasunobu Uchijima, Ryo Sugiyama, Taro Kitazawa, Akiyasu Iwase, Risa Kotani, Rieko Asai, Véronique Pingault, Mitsunori Ikeguchi, Jeanne Amiel, Hiroki Kurihara

J Clin Invest. 2023 Feb 15; 133(4): e151536. Published online 2023 Feb 15. doi: 10.1172/JCI151536

PMCID:: PMC9927936

Abstract Article PDF–2.7M

Select item 98855259.

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman

Genet Med. Author manuscript; available in PMC 2023 Jan 30.

Published in final edited form as: Genet Med. 2023 Jan; 25(1): 143–150. Published online 2022 Oct 19. doi: 10.1016/j.gim.2022.09.005

PMCID:: PMC9885525

Abstract Article PDF–1.0M

Select item 935135610.

Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development

Karla T. Falcon, Kristin E. N. Watt, Soma Dash, Ruonan Zhao, Daisuke Sakai, Emma L. Moore, Sharien Fitriasari, Melissa Childers, Mihaela E. Sardiu, Selene Swanson, Dai Tsuchiya, Jay Unruh, George Bugarinovic, Lin Li, Rita Shiang, Annita Achilleos, Jill Dixon, Michael J. Dixon, Paul A. Trainor

Proc Natl Acad Sci U S A. 2022 Aug 2; 119(31): e2116974119. Published online 2022 Jul 26. doi: 10.1073/pnas.2116974119

PMCID:: PMC9351356

Abstract Article PDF–3.4M

Select item 925040011.

新生儿常见小耳畸形相关综合征的遗传特征

马竞, 周文浩

Zhongguo Dang Dai Er Ke Za Zhi. 2022 Jun 15; 24(6): 614–619. Chinese. doi: 10.7499/j.issn.1008-8830.2203008

PMCID:: PMC9250400

Abstract Article PDF–565K

Select item 847085212.

Treacher Collins Syndrome: Genetics, Clinical Features and Management

Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Krzysztof Dowgierd, Robert Śmigiel

Genes (Basel) 2021 Sep; 12(9): 1392. Published online 2021 Sep 9. doi: 10.3390/genes12091392

PMCID:: PMC8470852

Abstract Article PDF–20M

Select item 752129113.

Broad‐spectrum next‐generation sequencing‐based diagnosis of a case of Nager syndrome

Jue Zhao, Liwei Yang

J Clin Lab Anal. 2020 Sep; 34(9): e23426. Published online 2020 Jun 14. doi: 10.1002/jcla.23426

PMCID:: PMC7521291

Abstract Article PDF–711K

Select item 720205414.

Loss-of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome

Amanda Barone Pritchard, Stanley M. Kanai, Bryan Krock, Erica Schindewolf, Jennifer Oliver-Krasinski, Nahla Kahlek, Najeah Okashah, Nevin A. Lambert, Andre L.P. Tavares, Elaine Zackai, David E. Clouthier

Am J Med Genet A. Author manuscript; available in PMC 2021 May 1.

Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1104–1116. Published online 2020 Mar 5. doi: 10.1002/ajmg.a.61531

PMCID:: PMC7202054

Abstract Article PDF–2.2M

Select item 705664215.

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gatinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean-Francois Deleuze, Robert Olaso, Walton Nephi, Hermann-Josef Lüdecke, Joke B. G. M. Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean-Baptiste Rivière, Jean-Louis Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève

Genet Med. 2020; 22(3): 547–556. Published online 2019 Oct 24. doi: 10.1038/s41436-019-0669-9