PMC Articles for MedGen (Select 1799164) - PMC

Daniel de la Nava, Iker Ausejo-Mauleon, Virginia Laspidea, Marisol Gonzalez-Huarriz, Andrea Lacalle, Noelia Casares, Marta Zalacain, Lucía Marrodan, Marc García-Moure, Maria C Ochoa, Antonio Carlos Tallon-Cobos, Reyes Hernandez-Osuna, Javier Marco-Sanz, Laasya Dhandapani, Irati Hervás-Corpión, Oren J Becher, Javad Nazarian, Sabine Mueller, Timothy N Phoenix, Jasper van der Lugt, Mikel Hernaez, Elizabeth Guruceaga, Carl Koschmann, Sriram Venneti, Joshua E Allen, Matthew D Dun, Juan Fueyo, Candelaria Gomez-Manzano, Jaime Gallego Perez-Larraya, Ana Patiño-García, Sara Labiano, Marta M Alonso

Neuro Oncol. 2024 Aug; 26(8): 1509–1525. Published online 2024 Mar 30. doi: 10.1093/neuonc/noae066

PMCID:: PMC11300018

Abstract Article PDF–47M

Select item 70046364.

A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations

Xueli Chang, Yaxin Wu, Jie Zhou, Huaxing Meng, Wei Zhang, Junhong Guo

Medicine (Baltimore) 2020 Jan; 99(5): e18634. Published online 2020 Jan 31. doi: 10.1097/MD.0000000000018634

PMCID:: PMC7004636

Abstract Article PDF–213K

Select item 67674415.

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

B. Balint, G. Charlesworth, M. Stamelou, L. Carr, N. E. Mencacci, N. W. Wood, K. P. Bhatia

Eur J Neurol. 2019 Sep; 26(9): 1240–1243. Published online 2019 Apr 20. doi: 10.1111/ene.13956

PMCID:: PMC6767441

Abstract Article PDF–262K

Select item 64084436.

Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins

Xeni Miliara, Takashi Tatsuta, Jamie-Lee Berry, Sarah L. Rouse, Kübra Solak, Dror S. Chorev, Di Wu, Carol V. Robinson, Stephen Matthews, Thomas Langer

Nat Commun. 2019; 10: 1130. Published online 2019 Mar 8. doi: 10.1038/s41467-019-09089-x

PMCID:: PMC6408443

Abstract Article PDF–2.3M

Select item 61704367.

Pathogenic variants in glutamyl-tRNA^Gln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Jr., Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove

Nat Commun. 2018; 9: 4065. Published online 2018 Oct 3. doi: 10.1038/s41467-018-06250-w

PMCID:: PMC6170436

Abstract Article PDF–2.8M

Select item 59739488.

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility

Yeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, Wahiba Ouahioune, Mahmut Balkan, Sajid Malik, Aslıhan Tolun

Eur J Hum Genet. 2018 Jun; 26(6): 876–885. Published online 2018 Mar 26. doi: 10.1038/s41431-018-0121-7

PMCID:: PMC5973948

Abstract Article PDF–1.4M

Select item 58862889.

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

Abstract Article PDF–1.0M

Select item 583047810.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E. W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porcelli, Silvy J. M. van Dooren, Pascal Lennertz, Benjamin Nota, Jose E. Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc Nuoffer, Branka Polic, René Santer, Natalie Weinhold, Britton Zuccarelli, Ferdinando Palmieri, Luigi Palmieri, Gajja S. Salomons

J Inherit Metab Dis. 2018; 41(2): 169–180. Published online 2017 Dec 13. doi: 10.1007/s10545-017-0106-7

PMCID:: PMC5830478

Abstract Article PDF–2.1M

Select item 550008011.

Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report

Xiaoyan Yang, Jing Shi, Haihong Lei, Bin Xia, Dezhi Mu

Medicine (Baltimore) 2017 Jun; 96(26): e7365. Published online 2017 Jun 30. doi: 10.1097/MD.0000000000007365

PMCID:: PMC5500080

Abstract Article PDF–544K

Select item 539839812.

DNA Methyltransferase Gene Polymorphisms for Prediction of Radiation-Induced Skin Fibrosis after Treatment of Breast Cancer: A Multifactorial Genetic Approach

Salvatore Terrazzino, Letizia Deantonio, Sarah Cargnin, Laura Donis, Carla Pisani, Laura Masini, Giuseppina Gambaro, Pier Luigi Canonico, Armando A. Genazzani, Marco Krengli

Cancer Res Treat. 2017 Apr; 49(2): 464–472. Published online 2016 Aug 23. doi: 10.4143/crt.2016.256

PMCID:: PMC5398398

Abstract Article PDF–608K

Select item 716330813.

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock

eBioMedicine. 2020 Apr; 54: 102730. Published online 2020 Apr 16. doi: 10.1016/j.ebiom.2020.102730

Correction in:: EBioMedicine. 2020 Nov; 61: 103072.

Correction in:: EBioMedicine. 2021 Apr; 66: 103295.

PMCID:: PMC7163308

Abstract Article PDF–520K

Select item 506637014.

Mitochondrial dysfunction in myofibrillar myopathy

Amy E. Vincent, John P. Grady, Mariana C. Rocha, Charlotte L. Alston, Karolina A. Rygiel, Rita Barresi, Robert W. Taylor, Doug M. Turnbull

Neuromuscul Disord. 2016 Oct; 26(10): 691–701. doi: 10.1016/j.nmd.2016.08.004

PMCID:: PMC5066370

Abstract Article

Select item 461894515.

Delayed Onset of Symptoms and Atovaquone-Proguanil Chemoprophylaxis Breakthrough by Plasmodium malariae in the Absence of Mutation at Codon 268 of pmcytb

Beatrix Huei-Yi Teo, Paul Lansdell, Valerie Smith, Marie Blaze, Debbie Nolder, Khalid B. Beshir, Peter L. Chiodini, Jun Cao, Anna Färnert, Colin J. Sutherland

PLoS Negl Trop Dis. 2015 Oct; 9(10): e0004068. Published online 2015 Oct 20. doi: 10.1371/journal.pntd.0004068

PMCID:: PMC4618945

Abstract Article PDF–551K

Select item 402885416.

Antioxidant activity of Coriandrum sativum and protection against DNA damage and cancer cell migration

Esther LH Tang, Jayakumar Rajarajeswaran, Shin Yee Fung, MS Kanthimathi

BMC Complement Altern Med. 2013; 13: 347. Published online 2013 Dec 9. doi: 10.1186/1472-6882-13-347

PMCID:: PMC4028854

Abstract Article PDF–768K

Select item 384655917.

Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P. Steel, Ramin Badii, Paolo Gasparini

PLoS One. 2013; 8(12): e80323. Published online 2013 Dec 2. doi: 10.1371/journal.pone.0080323

PMCID:: PMC3846559

Abstract Article PDF–1.5M

Select item 371942518.

Targeted exome sequencing of suspected mitochondrial disorders

Daniel S. Lieber, Sarah E. Calvo, Kristy Shanahan, Nancy G. Slate, Shangtao Liu, Steven G. Hershman, Nina B. Gold, Brad A. Chapman, David R. Thorburn, Gerard T. Berry, Jeremy D. Schmahmann, Mark L. Borowsky, David M. Mueller, Katherine B. Sims, Vamsi K. Mootha

Neurology. 2013 May 7; 80(19): 1762–1770. doi: 10.1212/WNL.0b013e3182918c40

PMCID:: PMC3719425

Abstract Article PDF–703K

Select item 327360019.

Combination Effects of Cigarette Smoke Extract and Ambient Ultrafine Particles on Endothelial Cells

Yiqun Mo, Rong Wan, Lingfang Feng, Sufan Chien, David J. Tollerud, Qunwei Zhang

Toxicol In Vitro. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Toxicol In Vitro. 2012 Mar; 26(2): 295–303. Published online 2011 Dec 8. doi: 10.1016/j.tiv.2011.12.001

PMCID:: PMC3273600

Abstract Article PDF–1.8M

Select item 326036020.

A/ASP/VAL allele combination of IGF1R, IRS2, and UCP2 genes is associated with better metabolic profile, preserved energy expenditure parameters, and low mortality rate in longevity

Michelangela Barbieri, Virginia Boccardi, Antonietta Esposito, Michela Papa, Francesco Vestini, Maria Rosaria Rizzo, Giuseppe Paolisso

Age (Dordr) 2012 Feb; 34(1): 235–245. Published online 2011 Feb 22. doi: 10.1007/s11357-011-9210-z

PMCID:: PMC3260360

Abstract Article PDF–181K

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