PMC Articles for MedGen (Select 1775535) - PMC

Select item 113771051.

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

Alaa Abu Diab, Ala’a AlTalbishi, Boris Rosin, Moien Kanaan, Lara Kamal, Anand Swaroop, Itay Chowers, Eyal Banin, Dror Sharon, Samer Khateb

Acta Ophthalmol. Author manuscript; available in PMC 2024 Sep 5.

Published in final edited form as: Acta Ophthalmol. 2019 Sep; 97(6): e877–e886. Published online 2019 Mar 29. doi: 10.1111/aos.14095

PMCID:: PMC11377105

Abstract Article PDF–874K

Select item 113102052.

Trim47 prevents hematopoietic stem cell exhaustion during stress by regulating MAVS-mediated innate immune pathway

Fang Chen, Yukai Lu, Yang Xu, Naicheng Chen, Lijing Yang, Xiaoyi Zhong, Hao Zeng, Yanying Liu, Zijin Chen, Qian Zhang, Shilei Chen, Jia Cao, Jinghong Zhao, Song Wang, Mengjia Hu, Junping Wang

Nat Commun. 2024; 15: 6787. Published online 2024 Aug 8. doi: 10.1038/s41467-024-51199-8

PMCID:: PMC11310205

Abstract Article PDF–5.1M

Select item 112265993.

Genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies disease models

Jun Wang, Meng Wang, Ala Moshiri, R. Alan Harris, Muthuswamy Raveendran, Tracy Nguyen, Soohyun Kim, Laura Young, Keqing Wang, Roger Wiseman, David H. O’Connor, Zach Johnson, Melween Martinez, Michael J. Montague, Ken Sayers, Martha Lyke, Eric Vallender, Tim Stout, Yumei Li, Sara M. Thomasy, Jeffrey Rogers, Rui Chen

Nat Commun. 2024; 15: 5658. Published online 2024 Jul 5. doi: 10.1038/s41467-024-49922-6

PMCID:: PMC11226599

Abstract Article PDF–2.7M

Select item 90375554.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

Abstract Article PDF–2.0M

Select item 84876855.

Mitochondrial DNA Copy Number Variations and Serum Pepsinogen Levels for Risk Assessment in Gastric Cancer

Mehdi Alikhani, Samaneh Saberi, Maryam Esmaeili, Valérie Michel, Mohammad Tashakoripour, Afshin Abdirad, Arezoo Aghakhani, Sana Eybpoosh, Massoud Vosough, Mohammad Ali Mohagheghi, Mahmoud Eshagh Hosseini, Eliette Touati, Marjan Mohammadi

Iran Biomed J. 2021 Sep; 25(5): 323–333. Published online 2021 Aug 22. doi: 10.52547/ibj.25.5.323

PMCID:: PMC8487685

Abstract Article PDF–838K

Select item 82356406.

Aedes albopictus diversity and relationships in south-western Europe and Brazil by rDNA/mtDNA and phenotypic analyses: ITS-2, a useful marker for spread studies

Patricio Artigas, Marta Reguera-Gomez, María Adela Valero, David Osca, Raquel da Silva Pacheco, María Goreti Rosa-Freitas, Teresa Fernandes Silva-do-Nascimento, Claudia Paredes-Esquivel, Javier Lucientes, Santiago Mas-Coma, María Dolores Bargues

Parasit Vectors. 2021; 14: 333. Published online 2021 Jun 26. doi: 10.1186/s13071-021-04829-9

PMCID:: PMC8235640

Abstract Article PDF–3.0M

Select item 64121237.

Matching tRNA modifications in humans to their known and predicted enzymes

Valérie de Crécy-Lagard, Pietro Boccaletto, Carl G Mangleburg, Puneet Sharma, Todd M Lowe, Sebastian A Leidel, Janusz M Bujnicki

Nucleic Acids Res. 2019 Mar 18; 47(5): 2143–2159. Published online 2019 Jan 30. doi: 10.1093/nar/gkz011

PMCID:: PMC6412123

Abstract Article PDF–5.4M

Select item 63473688.

Medieval mummies of Zeleny Yar burial ground in the Arctic Zone of Western Siberia

Sergey Mikhailovich Slepchenko, Alexander Vasilyevich Gusev, Evgenia Olegovna Svyatova, Jong Ha Hong, Chang Seok Oh, Do Seon Lim, Dong Hoon Shin

PLoS One. 2019; 14(1): e0210718. Published online 2019 Jan 25. doi: 10.1371/journal.pone.0210718

PMCID:: PMC6347368

Abstract Article PDF–7.4M

Select item 63239049.

MitoMiner v4.0: an updated database of mitochondrial localization evidence, phenotypes and diseases

Anthony C Smith, Alan J Robinson

Nucleic Acids Res. 2019 Jan 8; 47(Database issue): D1225–D1228. Published online 2018 Nov 6. doi: 10.1093/nar/gky1072

PMCID:: PMC6323904

Abstract Article PDF–904K

Select item 582221210.

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Ewen W. Sommerville, Yi Shiau Ng, Charlotte L. Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte Knowles, Sophie L. Chin, Andrew M. Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marianne de Visser, Laurence A. Bindoff, John M. Rawles, John C. S. Dean, Richard K. Petty, Maria E. Farrugia, Tobias B. Haack, Holger Prokisch, Robert McFarland, Douglass M. Turnbull, Claudia Donnini, Robert W. Taylor, Gráinne S. Gorman

JAMA Neurol. 2017 Jun; 74(6): 686–694. Published online 2017 Apr 10. doi: 10.1001/jamaneurol.2016.4357

PMCID:: PMC5822212

Abstract Article

Select item 529695011.

Morphological and molecular description of Ixodes woyliei n. sp. (Ixodidae) with consideration for co-extinction with its critically endangered marsupial host

Amanda Ash, Aileen Elliot, Stephanie Godfrey, Halina Burmej, Mohammad Yazid Abdad, Amy Northover, Adrian Wayne, Keith Morris, Peta Clode, Alan Lymbery, R. C. Andrew Thompson

Parasit Vectors. 2017; 10: 70. Published online 2017 Feb 7. doi: 10.1186/s13071-017-1997-8

PMCID:: PMC5296950

Abstract Article PDF–2.9M

Select item 423962412.

Biochemical Characterization of Pathogenic Mutations in Human Mitochondrial Methionyl-tRNA Formyltransferase

Akesh Sinha, Caroline Köhrer, Michael H. W. Weber, Isao Masuda, Vamsi K. Mootha, Ya-Ming Hou, Uttam L. RajBhandary

J Biol Chem. 2014 Nov 21; 289(47): 32729–32741. Published online 2014 Oct 6. doi: 10.1074/jbc.M114.610626

PMCID:: PMC4239624

Abstract Article PDF–2.8M

Select item 198672813.

Pleiotropic Effects and Compensation Mechanisms Determine Tissue Specificity in Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Yelena Bykhovskaya, Emebet Mengesha, Nathan Fischel-Ghodsian

Mol Genet Metab. Author manuscript; available in PMC 2008 Jun 1.

Published in final edited form as: Mol Genet Metab. 2007 Jun; 91(2): 148–156. Published online 2007 Mar 19. doi: 10.1016/j.ymgme.2007.02.006

PMCID:: PMC1986728

Abstract Article PDF–131K

Select item 168370314.

Friedreich ataxia in Italian families: Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15

Massimo Pandolfo, Giorgio Sirugo, Antonella Antonelli, Leonor Weitnauer, Luca Ferretti, Maurizio Leone, Ivano Dones, Antonella Cerino, Ricardo Fujita, Andre Hanauer, Jean-Louis Mandel, Stefano Di Donato

Am J Hum Genet. 1990 Aug; 47(2): 228–235.

PMCID:: PMC1683703

Summary Page Browse PDF–1.0M

Select item 679651815.

Salsalate, but not metformin or canagliflozin, slows kidney cyst growth in an adult-onset mouse model of polycystic kidney disease

Wouter N. Leonhard, Xuewen Song, Anish A. Kanhai, Ioan-Andrei Iliuta, Andrea Bozovic, Gregory R. Steinberg, Dorien J.M. Peters, York Pei

EBioMedicine. 2019 Sep; 47: 436–445. Published online 2019 Aug 28. doi: 10.1016/j.ebiom.2019.08.041

PMCID:: PMC6796518

Abstract Article PDF–2.1M

Select item 306263216.

Friedreich’s ataxia: Pathology, pathogenesis, and molecular genetics

Arnulf H. Koeppen

J Neurol Sci. Author manuscript; available in PMC 2011 Apr 15.

Published in final edited form as: J Neurol Sci. 2011 Apr 15; 303(1-2): 1–12. doi: 10.1016/j.jns.2011.01.010

PMCID:: PMC3062632

Abstract Article PDF–4.4M

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