PMC Articles for MedGen (Select 1638633) - PMC

Select item 76433901.

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report

Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian, Wen-Xiong Chen

BMC Med Genet. 2020; 21: 217. Published online 2020 Nov 5. doi: 10.1186/s12881-020-01149-0

PMCID:: PMC7643390

Select item 107077302.

Molecular Analysis of Dihydropteroate Synthase Gene Mutations in Pneumocystis jirovecii Isolates among Bulgarian Patients with Pneumocystis Pneumonia

Nina Tsvetkova, Rumen Harizanov, Iskra Rainova, Aleksandra Ivanova, Nina Yancheva-Petrova

Int J Mol Sci. 2023 Dec; 24(23): 16927. Published online 2023 Nov 29. doi: 10.3390/ijms242316927

PMCID:: PMC10707730

Article PDF–3.3M

Select item 84120833.

Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing

Carola Hedberg‐Oldfors, Ulrika Lindgren, Swaraj Basu, Kittichate Visuttijai, Christopher Lindberg, Maria Falkenberg, Erik Larsson Lekholm, Anders Oldfors

Brain Pathol. 2021 May; 31(3): e12931. Published online 2021 May 27. doi: 10.1111/bpa.12931

PMCID:: PMC8412083

Article PDF–1.5M

Select item 76852074.

CD38 deletion of human primary NK cells eliminates daratumumab-induced fratricide and boosts their effector activity

Meisam Naeimi Kararoudi, Yuya Nagai, Ezgi Elmas, Marcelo de Souza Fernandes Pereira, Syed Abbas Ali, Philip Hollingsworth Imus, Darren Wethington, Ivan Marques Borrello, Dean Anthony Lee, Gabriel Ghiaur

Blood. 2020 Nov 19; 136(21): 2416–2427. Prepublished online 2020 Jun 30. doi: 10.1182/blood.2020006200

PMCID:: PMC7685207

Article

Select item 59867105.

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

Markus M. Rinschen, Markus Gödel, Florian Grahammer, Stefan Zschiedrich, Martin Helmstädter, Oliver Kretz, Mostafa Zarei, Daniela A. Braun, Sebastian Dittrich, Caroline Pahmeyer, Patricia Schroder, Carolin Teetzen, HeonYung Gee, Ghaleb Daouk, Martin Pohl, Elisa Kuhn, Bernhard Schermer, Victoria Küttner, Melanie Boerries, Hauke Busch, Mario Schiffer, Carsten Bergmann, Marcus Krüger, Friedhelm Hildebrandt, Joern Dengjel, Thomas Benzing, Tobias B. Huber

Cell Rep. 2018 May 22; 23(8): 2495–2508. Published online 2018 May 22. doi: 10.1016/j.celrep.2018.04.059

PMCID:: PMC5986710

Article

Select item 58862886.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Caterina Garone, Aaron R D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk

Hum Mol Genet. 2017 Nov 1; 26(21): 4257–4266. Published online 2017 Aug 25. doi: 10.1093/hmg/ddx314

PMCID:: PMC5886288

Article PDF–1.0M

Select item 39519407.

A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity

Juan R. González, Alejandro Cáceres, Tonu Esko, Ivon Cuscó, Marta Puig, Mikel Esnaola, Judith Reina, Valerie Siroux, Emmanuelle Bouzigon, Rachel Nadif, Eva Reinmaa, Lili Milani, Mariona Bustamante, Deborah Jarvis, Josep M. Antó, Jordi Sunyer, Florence Demenais, Manolis Kogevinas, Andres Metspalu, Mario Cáceres, Luis A. Pérez-Jurado

Am J Hum Genet. 2014 Mar 6; 94(3): 361–372. doi: 10.1016/j.ajhg.2014.01.015

PMCID:: PMC3951940

Article PDF–1.7M

Select item 32602898.

Interleukin-1 Receptor-Associated Kinase-3 Is a Key Inhibitor of Inflammation in Obesity and Metabolic Syndrome

Maarten Hulsmans, Benjamine Geeraert, Dieuwke De Keyzer, Ann Mertens, Matthias Lannoo, Bart Vanaudenaerde, Marc Hoylaerts, Nora Benhabilès, Christos Tsatsanis, Chantal Mathieu, Paul Holvoet

PLoS One. 2012; 7(1): e30414. Published online 2012 Jan 17. doi: 10.1371/journal.pone.0030414

PMCID:: PMC3260289

Article PDF–566K

Select item 30615219.

Transcriptional Profile Analysis of RPGRORF15 Frameshift Mutation Identifies Novel Genes Associated with Retinal Degeneration

Sem Genini, Barbara Zangerl, Julianna Slavik, Gregory M. Acland, William A. Beltran, Gustavo D. Aguirre

Invest Ophthalmol Vis Sci. 2010 Nov; 51(11): 6038–6050. doi: 10.1167/iovs.10-5443

PMCID:: PMC3061521

Article PDF–1.3M

Select item 272489410.

On the timing and the extent of clonal expansion of mtDNA deletions: evidence from single-molecule PCR

Alexander Nicholas, Yevgenya Kraytsberg, Xinhong Guo, Konstantin Khrapko

Exp Neurol. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Exp Neurol. 2009 Aug; 218(2): 316–319. Published online 2009 May 6. doi: 10.1016/j.expneurol.2009.04.029

PMCID:: PMC2724894

Article PDF–50K

Select item 171613911.

Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes.

S K Bidooki, M A Johnson, Z Chrzanowska-Lightowlers, L A Bindoff, R N Lightowlers

Am J Hum Genet. 1997 Jun; 60(6): 1430–1438. doi: 10.1086/515460

PMCID:: PMC1716139

Summary Page Browse PDF–1.6M

Select item 14104312.

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

Vamsi K. Mootha, Pierre Lepage, Kathleen Miller, Jakob Bunkenborg, Michael Reich, Majbrit Hjerrild, Terrye Delmonte, Amelie Villeneuve, Robert Sladek, Fenghao Xu, Grant A. Mitchell, Charles Morin, Matthias Mann, Thomas J. Hudson, Brian Robinson, John D. Rioux, Eric S. Lander

Proc Natl Acad Sci U S A. 2003 Jan 21; 100(2): 605–610. Published online 2003 Jan 14. doi: 10.1073/pnas.242716699

PMCID:: PMC141043

Article PDF–423K

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