PMC Articles for MedGen (Select 1806598) - PMC

Select item 107077301.

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

Abstract Article PDF–3.3M

Select item 105995722.

Haplotypic analysis of cox1 from Toxocara canis demonstrates five distinct clades that are not geographically defined

Katy A. Martin, Jeba R. J. Jesudoss Chelladurai, Abrha Bsrat, Cassan Pulaski, Alice C. Y. Lee, Lindsay A. Starkey, Matthew T. Brewer

PLoS Negl Trop Dis. 2023 Oct; 17(10): e0011665. Published online 2023 Oct 25. doi: 10.1371/journal.pntd.0011665

PMCID:: PMC10599572

Abstract Article PDF–1.1M

Select item 97153633.

Exosome‐shuttled mitochondrial transcription factor A mRNA promotes the osteogenesis of dental pulp stem cells through mitochondrial oxidative phosphorylation activation

Jia Guo, Feng Zhou, Zhi Liu, Yuan Cao, Wanming Zhao, Zheru Zhang, Qiming Zhai, Yan Jin, Bei Li, Fang Jin

Cell Prolif. 2022 Dec; 55(12): e13324. Published online 2022 Aug 26. doi: 10.1111/cpr.13324

PMCID:: PMC9715363

Abstract Article PDF–3.7M

Select item 87764654.

Effect of Combined Endurance Training and MitoQ on Cardiac Function and Serum Level of Antioxidants, NO, miR-126, and miR-27a in Hypertensive Individuals

Yaser Masoumi-Ardakani, Hamid Najafipour, Hamid Reza Nasri, Soheil Aminizadeh, Shirin Jafari, Daruosh Moflehi

Biomed Res Int. 2022; 2022: 8720661. Published online 2022 Jan 13. doi: 10.1155/2022/8720661

PMCID:: PMC8776465

Abstract Article PDF–738K

Select item 84555425.

Characterization of SSBP1-related optic atrophy and foveopathy

Isabelle Meunier, Béatrice Bocquet, Sabine Defoort-Dhellemmes, Vasily Smirnov, Carl Arndt, Marie Christine Picot, Hélène Dollfus, Majida Charif, Isabelle Audo, Hélèna Huguet, Xavier Zanlonghi, Guy Lenaers

Sci Rep. 2021; 11: 18703. Published online 2021 Sep 21. doi: 10.1038/s41598-021-98150-1

PMCID:: PMC8455542

Abstract Article PDF–1.5M

Select item 82975376.

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

Isabelle Meunier, Béatrice Bocquet, Majida Charif, Claire-Marie Dhaenens, Gael Manes, Patrizia Amati-Bonneau, Agathe Roubertie, Xavier Zanlonghi, Guy Lenaers

Retina. 2021 Aug; 41(8): 1771–1779. Published online 2020 Dec 14. doi: 10.1097/IAE.0000000000003054

PMCID:: PMC8297537

Abstract Article PDF–623K

Select item 81754487.

Football and team handball training postpone cellular aging in women

Marie Hagman, Bjørn Fristrup, Rémi Michelin, Peter Krustrup, Muhammad Asghar

Sci Rep. 2021; 11: 11733. Published online 2021 Jun 3. doi: 10.1038/s41598-021-91255-7

PMCID:: PMC8175448

Abstract Article PDF–1.4M

Select item 76132198.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

The 100,000 Genomes Project Pilot Investigators

N Engl J Med. Author manuscript; available in PMC 2022 Aug 9.

Published in final edited form as: N Engl J Med. 2021 Nov 11; 385(20): 1868–1880. doi: 10.1056/NEJMoa2035790

PMCID:: PMC7613219

Abstract Article PDF–570K

Select item 66251339.

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsumoto, Hirotomo Saitsu, Atsuo Nakayama

Mol Genet Genomic Med. 2019 Jul; 7(7): e00698. Published online 2019 May 20. doi: 10.1002/mgg3.698

PMCID:: PMC6625133

Abstract Article PDF–1.0M

Select item 641449210.

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

Hannah Hayhurst, Irenaeus F. M. de Coo, Dorota Piekutowska‐Abramczuk, Charlotte L. Alston, Sunil Sharma, Kyle Thompson, Rocio Rius, Langping He, Sila Hopton, Rafal Ploski, Elzbieta Ciara, Nicole J. Lake, Alison G. Compton, Martin B. Delatycki, Aad Verrips, Penelope E. Bonnen, Simon A. Jones, Andrew A. Morris, David Shakespeare, John Christodoulou, Dorota Wesol‐Kucharska, Dariusz Rokicki, Hubert J. M. Smeets, Ewa Pronicka, David R. Thorburn, Grainne S. Gorman, Robert McFarland, Robert W. Taylor, Yi Shiau Ng

Ann Clin Transl Neurol. 2019 Mar; 6(3): 515–524. Published online 2019 Feb 17. doi: 10.1002/acn3.725

Correction in:: Ann Clin Transl Neurol. 2019 Apr; 6(4): 821.

PMCID:: PMC6414492

Abstract Article PDF–616K

Select item 548236211.

Mitochondrial genetic haplogroups and depressive symptoms: A large study among people in North America

Nicola Veronese, Brendon Stubbs, Marco Solmi, Alberto Vaona, Jacopo Demurtas, Andre F. Carvalho, Ai Koyanagi, Trevor Thompson, Mario Zoratti, Stefania Maggi

J Affect Disord. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: J Affect Disord. 2017 Aug 1; 217: 55–59. Published online 2017 Apr 4. doi: 10.1016/j.jad.2017.03.069

PMCID:: PMC5482362

Abstract Article PDF–367K

Select item 536525612.

Molecular Phylogenetics of Centrocestus formosanus (Digenea: Heterophyidae) Originated from Freshwater Fish from Chiang Mai Province, Thailand

Chalobol Wongsawad, Pheravut Wongsawad, Kom Sukontason, Worawit Maneepitaksanti, Nattawadee Nantarat

Korean J Parasitol. 2017 Feb; 55(1): 31–37. Published online 2017 Feb 28. doi: 10.3347/kjp.2017.55.1.31

PMCID:: PMC5365256

Abstract Article PDF–809K

Select item 502469713.

Warburg effect linked to cognitive-executive deficits in FMR1 premutation

Eleonora Napoli, Gyu Song, Andrea Schneider, Randi Hagerman, Marwa Abd Al Azaim Eldeeb, Atoosa Azarang, Flora Tassone, Cecilia Giulivi

FASEB J. 2016 Oct; 30(10): 3334–3351. Published online 2016 Jun 22. doi: 10.1096/fj.201600315R

PMCID:: PMC5024697

Abstract Article

Select item 494021714.

Association Between Mitochondrial DNA Haplogroup and Myelodysplastic Syndromes

Jenny N. Poynter, Michaela Richardson, Erica Langer, Anthony J. Hooten, Michelle Roesler, Betsy Hirsch, Phuong L. Nguyen, Adina Cioc, Erica Warlick, Julie A. Ross

Genes Chromosomes Cancer. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Genes Chromosomes Cancer. 2016 Sep; 55(9): 688–693. Published online 2016 Jun 21. doi: 10.1002/gcc.22370

PMCID:: PMC4940217

Abstract Article PDF–77K

Select item 429804615.

Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases

Manish Datt, Amit Sharma

BMC Genomics. 2014; 15(1): 1063. Published online 2014 Dec 4. doi: 10.1186/1471-2164-15-1063

PMCID:: PMC4298046

Abstract Article PDF–5.2M

Select item 395194016.

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

Abstract Article PDF–1.7M

Select item 302668417.

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Maciej Pronicki, Tamara Szymańska-Dębińska, Agnieszka Karkucińska-Więckowska, Joanna Jakóbkiewicz-Banecka, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Magdalena Pajdowska, Piotr Socha, Jolanta Sykut-Cegielska, Grzegorz Węgrzyn

J Appl Genet. 2011; 52(1): 61–66. Published online 2010 Nov 16. doi: 10.1007/s13353-010-0008-y

PMCID:: PMC3026684

Abstract Article PDF–142K

Select item 168370318.

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

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